Wednesday, September 10, 2014

Eyes Wide Opened

It's been a long time since I've blogged.  I got tired of journaling nothing but medical updates, which seemed to be my season, so I gave up on it.  Ironically, it's what's brought me back to the blog.

For those of you who have followed the girls health sagas, not a lot has changed.  Kate still is sick all of the time and Leah still has muscle and fine motor issues.  Praise God, Leah is in a very stable season and is doing fantastically.  We seem to have found a good schedule and regiment for her and we are so grateful for that!  Hopefully, someday soon, we will be able to say the same for Kate.

In April, I took Kate in for her 6 year old well check.  I updated the pediatrician on where we were at with Kate's stuff.  Basically it was the same place as always; 12+ antibiotics a year (for the last 6 years), many daily meds, specialists wanting to do more surgeries (she's had 6 already), etc.  The only improvement we've seen in 6 years is a decrease in frequency of oral steroids.  While this is terrific, it is at the cost of high dose daily inhaled steroids.

After discussing where we were at, I mentioned a wart on K's toe.  We'd treated it with OTC products on and off without much success.  I asked him to go ahead and take care of it.  He and our favorite male nurse, who is Kate's honorary big brother, went to work cutting and freezing the spot on her big toe.  They spent 45 minutes working on it, while she spent 45 minutes pinned to the bed screaming.  When they finished, her pediatrician recommended we see an immunologist again.  This was on a Monday and when we left, we had an appointment at TCH immunology clinic for that Wednesday.  Our doctor is wonderful, but I should've known, you never get an appointment with TCH that quickly.

We went to the appointment and spent hours going over history.  The doctor had already met with K's pulmonologist and the immunologist she saw as an infant.   She was very thorough and VERY concerned with the wart.  Apparently, unbeknownst to me, they had cut somewhere around 14 spots out of that one wart we saw.  To me this was a bit of a shock, as you could only see one little spot, but nothing too worrisome.  To the immunologist, it said a lot.  I hadn't put together that warts are indeed a virus.  So is the mulloscum she has had on her skin for the last two years.  To the immunologist, this spoke loudly to what was going on inside Kate's body.

We spent the whole day there and then got up the next morning to go back for more testing and history.  She had a full allergy work up and somewhere around 10 vials of blood drawn again.  We have been back many, many times for visits and labs and will continue to work with this immunologist to try and find a treatment plan that will work for Kate and, Lord willing, a diagnosis.

In the meantime, we had a huge issue come up.  At the very end of May, I was doing the traditional Saturday night scrub down on Kate and went to cut her toenails.  I noticed something on her foot that hadn't been there a few days prior.  Kate immediately melted down and tried to convince me it was sand, despite having just exited the shower.  She insisted she had, "stepped in something sticky and then some sand".  I was shocked at what I saw.  I freaked out, Glenn came in and he freaked out and Kate was hysterical at the thought of having to get this frozen off.  I got her to bed and texted a friend asking for prayers.  She asked if another friend could call me.  She is a mutual friend from church, who had spoken to me before about Young Living essential oils.  I had gone to a class a few weeks prior, but wasn't really buying all the claims they made.  I met with the teacher afterwards and asked about Kate's health since she too had a daughter who had been sick a lot.  I got the expected answer of, "Oh my daughter wasn't that bad".  I didn't put much weight in oils doing anything for Kate.  So this mutual friend called and offered to bring some oils to church for us to try.

 This is what her poor foot looked liked the next day when it finally donned on me to take a picture of it.  The spot under her middle toe changed and spread hour to hour literally.  Since it was Sunday and she was having trouble walking on it at this point, I decided to give the oil a try.  I called the pediatrician first thing Monday and they immediately got busy getting her the first available appointment with dermatology.  They then called with that information.  Issue is, that first available appointment?  18 months out.....EIGHTEEN MONTHS out....while I'm literally watching this stuff take over her foot.  It was to the point she couldn't walk on it because it hurt and felt like she was "walking on marbles".  I had just confirmed plans and tickets for an upcoming trip to Africa (hopefully I'll get around to posting about that amazing trip) and was panicked and looking at backing out quickly.  We finally found a dermatologist that could see her in two weeks.  So we decided to give the oils a try while we waited.  The doctor was pretty sure they would have to inject the area with chemo to kill it all off.  Apparently, the external part of the wart is only a tenth of what is really under there.  We reached out for prayer, had the elders pray over her and began putting Frankincense oil on her toe twice a day.

She was excited to try ANYTHING other than going to the doctor.

We noticed some minor changes, but couldn't really tell if they were for the better or worse.  This next picture was taken on Thursday night at bedtime.  All of a sudden, we were becoming believers in YLEO.  You could definitely see changes happening and she was back to walking normally.  This was also the night that we found something on her sheets and spent way too long at bedtime with our microscope trying to decide what it was.  :)

 We continued applying the frankincense morning and night through Sunday.  Monday afternoon, we went to the pool with friends and then stopped by my folks house to pick something up.  While we were there, Nana asked to see K's foot.  She commented that it was looking good and that it looked like things were about to fall off.  I responded something like, "Yeah, we are starting to notice some changes", when she said, "No, really.  I think it's about to fall off!".  What happened next was like a Sci-Fi horror film.  Kate flipped her foot over and began pulling clumps of blood vessels out of her foot.  I use the term "pulling" loosely, as they were  more just falling off.  There was no effort to it.

They literally all popped off!  She had one last, little spot that came off that night.  I could not believe how healthy the skin looked underneath.  The OTC's we'd used were acids that literally burn all the tissue, good and bad.  The freezing and cutting definitely damaged the surrounding skin.  The oil left perfect, healthy skin.  This was absolutely amazing to me.  This picture was Tuesday morning.

Kate's foot is still perfectly clear!  8 days, 15 applications and she was back to normal.  We kept the appointment with dermatology just so we would be able to get in sooner if we needed to in the future.  We had to take pictures of what was wrong with her now perfectly healthy foot, as well as the baggie of "parts" she insisted on keeping.  I am so glad that God found a way to open my eyes to other possibilities despite my stubbornness.  I truly believe there is a time and place for modern medicine, I work in a pharmacy, for crying out loud, but I am so excited to see the results we are getting with oils and to be learning more about them.

What does this mean for Kate?  Since we are in the beginning stages of testing for immune deficiencies, we are being very careful with what we do right now.  We would love to oil her all up and watch what happens.  However, we feel it is very important to get a clear diagnosis for her.  The doctors don't seem to think the oils will effect her blood levels.  After watching what they did to her skin, from the inside out, I am not so convinced they won't.  On one hand, that is great news as we would LOVE to effect everything inside of her.  On the other hand, we don't want all of her labs to have false or manipulated numbers and have her dismissed as normal.  So for now, we wait.  If we reach a point where they don't offer us any more options or diagnosis, we will be treating everything with oils to see what happens.  How exciting to finally have an option for a plan B and a wonderful one at that!

The rest of the family is using them often and we are all in love with what they are doing for us!  If you have any questions about YLEO, please feel free to contact me.  I'd love to be able to share more of the testimonies that we, personally, have seen. 

Monday, March 26, 2012

"Normal" By Now

I'm going to rant and I apologize in advance. I know it's ridiculous to put something out there for everyone to see and ask "everyone" to keep things confidential, but I am going to anyways. Please keep these matters in your prayers, but please be sensitive to the feelings of my sweet daughter too.

I should be used to this by now, but I'm not certain I ever will be. The waiting, the doctors, the uncertainties, the tests, the questions, the tests that lead to more questions and more doctors, the doctors who won't simply say "I don't know", the waiting rooms, the copays and deductibles, the endless prayers, the explaining to my kids when there aren't any explanations, and so on and so forth. When does it end? How far do we go? Do we keep trying or do we quit?

We got Leah's biopsy final report today and everything was "normal". The only problem is things aren't normal. Leah still struggles with muscle weakness. She's made great strides in some ways, she's learned to ride a bike 2 wheeled. In many other ways she still deals with weakness though. She's had lab after lab run to the tune of $50,000 and everything is "normal" in the end. She still struggles with putting on weight and despite eating more that she ever has this year, growing is still slow going for her.

She's 7 and on a BiPAP machine every night because her muscles aren't working well enough for her to breath enough to really sleep. We know she needs it. She couldn't have faked or skewed the tests. We see the difference in her emotionally and physically when she does use it and so does she. When your CHILD tells you, "I like how my BiPAP works because I don't have to be afraid I'm going to run out of energy when I use it. I can just keep going and going" it kind of breaks your heart and gives you peace at the same time. Still, it's not "normal". We are on our 7th mask in 2 months to try and find the perfect fit for her sweet face. I've even gone to the extreme of cutting up one of Glenn's silk shirts to make soft liners for her mask so they would be more comfortable. She's gone to school on many occasions with marks on her face from the BiPAP masks rubbing her raw. Worth it? YES Normal? NO Every night she asks, "why do I have to do this again?" and I fumble for an answer that makes sense. The truth is I don't know.

Then there are the BIG issues. The pain that is so intense at times that she is on the verge of vomiting. You never know when it's going to hit or what will set it off. Nine months ago she started having accidents. They were very sporadic and seemed to us like a possible UTI or just waiting too long and being too distracted to go. Sometimes it was an issue with not being to work zippers or buttons on her clothing so we've modified what she wears. We've been in for many urinalysis and they are all "normal". But here's the thing. It's not normal. It's getting worse. It happens at home, it happens in public. I'm not talking a little trickle, oopsie accident. I'm talking about a full bladder in the shoes accident. It is absolutely humiliating. She is so embarrassed and angry about it. They've gotten more and more frequent and the urgency of her need to use the bathroom has increased greatly too. When she's gotta go, you've got seconds at most to get her where she needs to be or it's too late. We've talked about not waiting so long, about not ignoring the little signs, etc. until we are blue in the face.

It seems that if distraction or waiting too long were the cause, at her age, she would have caught on by now and would compensate for it. But they continue to get worse, not better. She has been fully potty trained since she was 2 and has never had any issue like this before. Is it psychological? Is it behavioural? Is it physiological? Despite the doctors lack of concern over it, I as her mother will tell you it's NOT "normal". What would cause a child this age to have a sudden onset of this? She is shy, timid and does not like to draw attention to herself. She is humiliated when it happens and becomes hysterical when I have to help her take care of the mess. It's been pretty rough on her and it's indeed not "normal". If it's psychological, fine, lets deal with it. We've spent hundreds of dollars on play therapy and been told it's not, but we can go back. If it's behavioural, fine, let's deal with that. But with all that's going on does it seem so far fetched that maybe it is physical?

I warned her teacher and the school nurse about what was going on and asked if we could come up with an emergency plan just in case this happened at school. This was one of my biggest fears as I can only imagine the humiliation that would occur. Last week I picked her up early for therapy and as she got in the car she told me that she had an accident at school. My heart sunk. She explained she had taken care of it with the spare clothes in her bag and that it was okay. I was surprised at how well she was handling it. Then I realized she had the same pants on. I sighed a sigh of relief realizing we were off the hook this time, it was just a little accident. When I asked about specifics she shared something that just about ripped my heart out.

She had been at PE and felt like she need to go potty. She went to tell the teacher and knew it was too late. She went away from the other kids and hid. She was too embarrassed to tell the teacher. Just then they paged her to the office because I was there to get her for therapy (Praise GOD!). She ran in and grabbed her bag and went to the bathroom to change before coming out. It was then that she told me it was her bowel, not her bladder. I honestly didn't know what to say or do so I went into "deal" mode. She was fairly confident that no one saw her or knew. I can only pray so. We got to therapy and I took her to the bathroom to make sure she was all cleaned up. The mess was bad despite her best efforts to do what she could with what she had. Once again this wasn't anything "minor" this was an entire accident. She was hysterical and on the inside so was I. She realized our "spare" clothes that we keep in the car weren't there because she had used them earlier in the week for a different accident. She kept crying, "please don't make me wear a diaper". I scrounged enough clothes together (thank God for that not growing part and a pair of 4T panties) and she went off to therapy. I on the other hand walked out into the woods and fell apart.

After a sobbing phone call to my mom, I called her pediatrician and her MD doctor. THIS is NOT normal. Or is it? What is normal? What isn't? How do you know where the line is? Leah has always had signs of some underlying muscular issues, but what now? What's next? Is this permanent? Is it a one time thing? What is going on? Is it too early to panic or is it too late? Should I have made a bigger deal out of the bladder issues? If so, to who? Two days later I heard from the pediatrician and he wants an MRI of her spine and brain done. He doesn't think it's "normal" but doesn't know what to make of it. Her MD doc finally called today, 5 days later, and said that since her biopsy was "normal" he'd do an MRI if that's what we wanted. He "wasn't ready to say that this had anything to do with anything muscular" whatever that means.

Is this normal? Quite honestly I don't care. I am so tired of the run around. I am tired of doctors who want to treat their "specialty" instead of MY DAUGHTER. I am tired of trying to wrap my mind around it all. I'm tired of worrying about what symptom is next. Or who I need to call to make sure they will schedule whatever needs to happen next. Or which doctor is going to care enough to do anything about it. My daughter is hurting, physically and emotionally and probably psychologically too. I want help for her. I want peace for her. I want comfort and rest for her. I want NORMAL for her. Is that abnormal for a mom to want? If so, I guess I'll just have to be abnormal.

God give me patience, strength and peace. Help me know when to push and when to back off. Help me comfort and guide my daughters through this "abnormal" world we live in and help us find and live in the "normal" your grace grants us. Give them both peace that passes ALL of our understanding.

Muscle Biopsy

Leah had her deep muscle biopsy done in January. They didn't give her anything to take the edge off until she was out of my sight. Apparently when the doors closed after we said goodbye, Leah wigged out. The anesthesiologist said she put up a good fight and refused to enter the room or get on the table. I don't know how they finally got her in, but the hand shaped bruises all over her upper arms the next day gave some indication. When she came out of surgery her oxygen dipped and she required some support. Because of this, they kept her 24 hours for observations. Of the 24 hours, we spent from 7 am to 10 pm in pre op and post op. Apparently when the are out of rooms in the hospital you get to just hang out in post op. This is less than favorable as post op is a very noisy, bright, hustle and bustle place. People come and go constantly, nurses holler orders to each other across the room of 50 patients in varying degrees of anesthesia. Kids wake up disoriented, nauseous and cranky. As soon as they settle in, they are discharged and you start over again. There are no rooms, you are all in there together. It's less than favorable conditions, but it could be worse, I know.

Leah wasn't allowed to have anything to eat or drink since the night before so by 2 o'clock she was starving and Popsicles weren't cutting it. I finally convinced a nurse to look the other way while daddy smuggled in some McDonalds for her. In the 15 hours of waiting we had at least 7 different nurses assigned to us, our favorite being a male who reminded us of a close friend. He had a dry sense of humor and Leah wasn't 100 percent sure about him but enjoyed the banter. She rarely complained of pain, but when I had to take her to the bathroom it was major drama (see: all out hissy fit, including punching mommy in the head over and over). I insisted that the nurses give her something for the pain and one of the nurses went to find something. When they returned they gave her a medicine cup and commented that this was "all they could find". When I asked about what it was, they told me Tylenol. Not prescription strength with codeine, but good old OTC Tylenol. I distinctly remembered the surgeon stating that Leah would have strong pain killers to go home on, so I found this odd.

By 8 o'clock there was no sign of a room although we had shut down the day surgery post op room and transferred to a different building's post op room. Leah's pain level was fine while she was laying flat in bed, but was horrible when she was forced to move. I pushed the pain medicine issue with the nurses and they finally decided they would check with the doctor. Indeed she was to be getting Lortab, not OTC Tylenol. BIG difference. By 9 o'clock we found out we were getting a room and by 9:30 the stars had aligned and it had been cleaned and we were ready to go. Then the nurse discovered Leah was supposed to have labs drawn at 7 o'clock and oops they forgot. We would have to wait for that to be done before we transferred so that the nurses wouldn't get in trouble. By this point I was exhausted and not very happy with our "stay" so far. We eventually got to our room, had labs drawn and got some real medicine. We both slept as best we could. They discharged us the next day around lunch time and we were on our way.

Leah spent the first day being carried around and perfected the "Leah shuffle", where she would wiggle her hips back and forth while sliding her feet across the floor to get around. It seemed more difficult to chase the pain since it had already been out of control the day before and she dealt some with the anxiety of pain. Some sweet friends let us borrow crutches and a wheel chair and that made things so much easier for her. Within a week she was getting around pretty well. She has had an abscess that has been a real persistent pain, but otherwise she's all healed up. She has a pretty dark scar on her thigh, but she is getting around as good as always. We are glad to have that all behind us.

Wednesday, January 25, 2012

Here We Are

I will blog again someday...
This will not just be a medical blog someday...
This will include precious pictures and funny stories of my darling children again someday...

But for now, here we are...

Tonight I've got two out of two kids on medicine for strep throat. I've got a bag partially packed for the hospital for Leah's surgery Friday. I've got a little sweetheart (6 months old) that I've been babysitting since I quit teaching in December, who has the worst case of chicken pox I (and the pediatrician and the nurses at the hospital) have ever seen. We've had multiple doctor's appointments, medicines, phone calls to warn those we've exposed to both illnesses and sick days spent in our pajamas this week. I'm tired and the "fun" hasn't started yet.

Leah had her second sleep study in November and we knew pretty quickly that she would need to be on a CPAP. Before they started the sleep study they let her try on the mask and feel the air pressure for about 10 minutes. When I saw them put the mask on her, I assumed she would freak out. Leah doesn't even like the feel of embroidered shirts and this mask is something else. Much to my surprise, she settled in on my lap and watched tv for 10 minutes totally peaceful. When they took it off, she made the comment that the mask "made her feel good". I thought that was really weird at the time and stored it in my "mention to the doctor later" file. By morning it was very apparent she slept better with the CPAP and she even asked to take the machine home. I was shocked and saddened by the fact that she had been sleeping that lousy.

The MD doctor called us and went over the results, which, once again, included that she needed to have her tonsils and adenoids removed. Since she had this done in January, he was concerned that there was something else causing an obstruction. He referred us to a pulmonoligist who specializes in pediatric sleep apnea. We contacted Kate's pulmo, since we have history with her and love her, and she also recommended we see Dr. K. The appointment was set for this week.

In December, I took Leah in for an eye check up since she failed her vision test at school. She has never complained of headaches, blurred vision or trouble seeing and we've never noticed any squinting. She has yet to get below a 95 on her report card and is an excellent reader so we had every reason to believe her vision was fine. Wrong again! She has an astigmatism in both eyes and 20/40 in one eye and 20/70 in the other. She is the proud owner of pink glasses. She hasn't complained about them once and wears them, without us asking, from the time she wakes up until she goes to bed. Apparently she knows she needs them. Again, I felt bad.

This Sunday Leah came down with strep throat, after her best friend had it last week. We called the pulmonoligist we had a 2:00 appointment with on Monday to see if they would prescribe her an antibiotic while we were there and they said it would be no problem. We got to the appointment and the doctor spent 4 minutes reading us the report summary from the last sleep study word for word. In that 4 minutes I learned that she has moderate Obstructive Sleep Apnea and needs a BiPAP machine that is set at 12/6 and that it would be delivered later this week. That was it. I drug the doctor through my questions and got a little extra information. Here are some of the things I learned from my questions, reading the sleep study and google.

- A CPAP machine gives constant pressure when you inhale while sleeping. Inhaling takes more work than exhaling. This is the most common treatment for Obstructive Sleep Apnea, OSA.

- A BiPAP machine gives you constant pressure when you inhale and exhale. Exhaling is usually tolerated well while sleeping. In Leah's case, she is not inhaling or exhaling fully, causing a disruption in her sleep, on average, every 6 minutes through the night. That is why she needs a BiPAP versus the CPAP.

- Leah has OSA, most likely because of having poor muscle tone in her chest, diaphragm and lungs. She also gets into patterns between the OSA episodes where she breathes way too shallowly. This is also because of muscle weakness.

I mentioned Leah's comment about liking the mask while being awake and the doctor didn't have a good answer. I pushed for doing a lung function study on her and the doctor finally agreed to do some basic studies on her. Those results came back showing that her lungs are not functioning well when she is awake either. When I expressed concern over this finding the doctor said she would check it at future visits to see if we could tell if she is getting sick or not. I understand that concept for peak flow meter users, but I don't think it has anything to do with Leah's case.

She also decided she didn't want to give Leah antibiotics, leaving us in a pinch to get her on meds quickly. On top of that, as I was pumping gas and reading the sleep study report, I found a page diagnosing Leah with obesity and a fatty liver, in addition to OSA. I was REALLY shocked at that until I noticed another patients name, date of birth and medical record numbers at the bottom. I still need to call them and make sure they didn't accidentally put those diagnoses on her chart. All in all I was unimpressed with this specialist. The positive is her BiPAP is arriving tomorrow and I received a copy of the lung function study and sleep study that I can take to her MD specialist. It is one more piece of the puzzle for him to see what is being effected.

On Friday, Leah goes in for a deep muscle biopsy. Three of the DNA labs they ran 4 months ago came back with abnormal results. This could be incidental or could be key to her diagnosis. In the muscle biopsy the surgeon goes into her thigh, almost to the bone and retrieves a small piece of muscle to send to the lab. In the lab, they can break down each fiber of the muscle and see where there is growth, damage and abnormalities. Apparently they start on a basic level and then spend several months staining and researching any abnormalities they find in each layer. We probably won't get results for several months, but at least it's getting done. From what I understand, this is the test that is most likely to provide answers towards a diagnosis and prognosis. As we've learned before, there are no guarantees, but we are hoping for some more pieces of the puzzle to be revealed.

We thought the procedure was a quick outpatient procedure, but it's a little more involved. We will be there for at least 24 hours. After the surgery the surgeon has to stitch up each layer from the inside out, resulting in 6 or 7 layers of stitches internally. Since there is a big chance of tearing and bleeding, Leah will not be allowed to go to recess or PE, play outside or take part in dance or any of her therapies for at least 3 weeks. After 3 weeks we return to hopefully get an "all clear". Leah is a little nervous about the procedure and is not looking forward to the recovery, but she is doing a great job of talking about it which is great.

As always, your prayers are much appreciated!

Sunday, September 25, 2011

Sleep Study, Heart Tests and PT

Monday was a very busy medical day with a lot of new "pieces" to the puzzle. Since neither of the girl's issues have been clear cut diagnoses, I've started looking at their medical stuff as a puzzle. Each test we get results for gives us another piece of the puzzle and eventually, I hope, there will be something recognizable there. We started the morning bright and early downtown for an appointment with a neurologist who specializes in sleep disorders. We reviewed the results of Leah's sleep study and she has sleep apnea. He ordered a second sleep study with a CPAP to take measurements and then they will order her the machine. He said that Leah's is not the typical sleep apnea where people hold their breath. Instead her body slips into these patterns where her breathing becomes slow and very shallow. This causes her to wake up (not where she knows it) and is causing her to have fragmented sleep. This could be why she seems tired often, wears out easily, requires more sleep and is so emotional, especially when she's tired. He doesn't think it is extremely serious or life threatening, but he does want her on the CPAP every night. He was not certain if this breathing pattern is because of whatever is going on muscularly or if it is a result of the way she was made (tiny airway, tiny mouth, etc). If it is muscular, it could improve as we work to get her stronger, but could worsen if her overall tone worsens. If it's structural, it could get better as she gets bigger. Either way he said to plan on the CPAP for the next few years, minimum.
After the appointment we went back down to the lab. With all of our insurance changes, we don't have the luxury to sit and wait for the DNA results to come back to know what tests we need to order next. The DNA takes 6-8 weeks and by then the new plan will be in effect with the new deductibles and policies. Our neurologist at the MDA clinic decided to go ahead and order the next round of tests so that we could get those covered on our current plan as well. This blood draw was no better than the last and was made more difficult by having Kate with us. Leah was in one corner screaming, kicking and hitting and Kate was in the other holding her ears and yelling at Leah to stop scaring her. After a few minutes of screaming, "the enforcer" came in. She remembered Leah from a few weeks ago and recognized her by her scream before entering the room. We were able to get the draw and will know the results of those in 6-8 weeks too.
From there it was off to the cardiology clinic for her echo and EKG. Since her muscle weakness is all over, there is good reason to suspect it will or can effect every muscle. She has been having occasional accidents and has very little ability to wait when she feels the urge to go. Despite living 2 miles from the school, we have to stop at the gas station on the way home quite often. I don't believe that this is an attention seeking act, especially after seeing how distraught she was the last time this happened in public. Back to the heart.... The MDA doctor wanted to get a good look at her heart just be sure the weakness wasn't affecting it. By this point Leah was exhausted. I think walking into the echo room scared her too because it looked similar to the sleep study room. She hated the sleep study. At it, she screamed every time they cleaned a spot to put the electrode on and taking them off was a nightmare. The tech had asked if she was always so difficult and frankly I was embarrassed by her behaviour. However, two days later she still had red marks all over her face and after talking to others who have had them, I think she had a reaction to the cleaner. When we walked into the echo room, she hid in a corner and was completely uncooperative. I finally carried her over to the bed, pinned her down and we got it done. She has such a hard time with so many of the tests and it is heartbreaking and so stressful to be the momma having to go through it with her. The last few months have been very reminiscent of the week she spent at the hospital as an infant.
From there, we went to physical therapy. Leah absolutely loves PT and her physical therapist Miss Kelly. I had discussed my concern with the discrepancies about the level of weakness that we've heard from doctors, therapists, etc. last week. As a result, she decided to schedule a specific evaluation for this session so that we could have something more tangible. This evaluation has a list of activities for Leah to try and then gives a percentile for her results. It showed she is in the 16th percentile for 5-6 year olds (she is 7). This is probably about what I would have guessed. Kelly did say she felt that this was higher than what it would have been months ago when we started therapy. It is great that we are making some improvement, but we still have a long ways to go. She said she would not be comfortable releasing her until she hit at least the 50th percentile. It is nice to have a number and a goal though.
I talked with the MDA neurologist on Friday night and he has an appointment set up for us to see the surgeon for the muscle biopsy. We will see if we can get that done before the insurance change (in 6 days....very slim chance) and if not, we will wait until we get all the DNA results back. We may put that off until after January 1st to get it in on the new deductible. I asked about the echo and EKG results and he thought they were all in. We had them done at the same time at the same place by the same tech which means that the same doctor read them both and reported on them. However, only the results for the EKG were in the system. He said the results for the EKG showed that the left side of her heart was enlarged (which is a sign of heart failure), but that this may or may not be true. The echo shows an actual picture of what is going on versus just the electrical activity. Trying to track down the echo report at 6:00 on a Friday seemed impossible and he said he would call first thing Monday morning to find it.
Both of my girls are excellent at situations like this. We constantly hear things like this. It's always for highly probable stuff too. If she had muscle weakness in her heart, there is a good chance that this is what it would look like on an EKG. We never get incomplete ridiculous answers like, "The lab work shows your 7 year old is really male" or "It appears your 3 year old is pregnant". It's not that I want to hear something bizarre like that. It's just it is always stuff like this where it makes too much sense and leaves you hanging over a weekend (usually a holiday weekend) trying to make sense of it. In theory if her heart is damaged, that could cause the tiredness and sleep issues and many other symptoms. Or it could be nothing. Who knows! I seriously think my kids are in a contest to see who can out do the other one and who can make my hair turn grey the fastest. Either way, the echo should clear up what is or isn't going on in there and will give us another piece to the puzzle. If there is an issue, the doctors know this is something that is effecting every muscle and it will help guide them in what to test for. If there is not an issue, we know that even though the weakness seems to be effecting everything, it is not severe enough to be effecting her heart. One piece at a time, Lord willing, we will figure out what is going on.

Out With the Old, In With the New

The last few weeks have been difficult at best around here. We've had all of Leah's many appointments and countless tests, physical therapy twice a week, dance once a week and interviews for play therapists. We've had all the little pieces of information from each of these things to chew on and the lack of answers to process. Kate had pneumonia, sinus infections and bronchitis all at the same time. Glenn has had a rough month at work. Leah started first grade and with that came some adjustments to her schedule and day so that she doesn't get so warn out. Kate started school for the first time. I started teaching two days a week to help pay for the above list of things. Our van was hit while parked in addition to having 4 current recalls on it, our camera was destroyed, a 35 foot limb fell out of a tree barely missing our house, the suv has been having issues, the dryer broke, our bank account got hacked and drained. Things at the shop have been ever so busy and we've had some very stressful situations out there. We switched companies for our auto and home insurance and have had some major difficulties with that. Our medical insurance was changed and we had two weeks notice on it. Not only will our premiums go up significantly, our deductible will run from October to January and then reset. On top of that, we will have to pay for ALL of Leah's therapies at 100% up front until we meet our very high deductible. This means her therapies will come to a halt from October to January and even after January we will have to cut them back significantly.
This week felt like it hit a peak. Monday I spent the entire day, 6:00 am to 5:30 pm, taking Leah to appointments, with Kate in tow. I was tired, cranky and so incredibly rude to my kids. My tone and attitude was horrible and I just wanted to crawl in a hole. By Tuesday, all of the strong facade I had faded away and I was a big bumbling mess. I haven't cried that hard in a long time and while it was extremely embarrassing, it was also cleansing. As a mother, I feel like I have to keep my cool and keep everyone else strong and together. I tend to bottle stuff up and I don't let myself go "there" very often. I know better, but it is too easy to slip back into the old habit. I think part of me is afraid if I go "there" that I will not be able to get out of "there".
The last few months I feel like Satan has hammered us with temptation, stress and heart ache. I feel like he's attacked our kids, physically and emotionally, he's attacked our marriage and he's attacked our stuff (cars, house, bank account, etc). By Wednesday morning, when I found out about the bank account, all I could do was laugh. I laughed because it seemed so obvious he would hit whatever we had left. I laughed because whoever drained the account picked the wrong account, as it was on it's way to empty already. I laughed because I didn't know what else to do.
With the exception of our kids and marriage, every single one of these things are little things involving material possessions that really don't matter. Normally I could handle any of them, but it seemed to have become a daily thing. For a while it felt like we were a sponge being rung out everyday. Eventually we'd soak up some more moisture only to be rung out again the next day. By Tuesday, I felt more like a dry sponge. Every ringing out brought tearing and cracking and it seemed each time hurt worse. At small group that night, we took turns praying over each other.
Wednesday morning is when we discovered the bank account, but as the day went on, blessings surrounded us. Glenn had some breakthroughs at work. A dear friend brought lunch (and dinner) over for us and visited for several hours. We received not one, but two financial blessings that we did not expect at all. Both were from sources unaware of the situations we were going through and both had been written previously, but not delivered until Wednesday. Had they arrived when they were written, they would have been stolen with the rest of our money. God is always faithful and His timing always perfect.
Being able to see these blessings has renewed both of our spirits. Nothing significant has changed about any of these issues, but it was enough to put something back in the sponges. God's blessings surround us, even when they are difficult to see. The van was hit, but is still drivable and no one was injured. Our cars need repairs, but we have not one, but two cars. Our insurance is all messed up, but we have insurance and live some place with top notch health care. Our house was not damaged by the tree. Our camera was replaced. We have the ability to see doctors and therapists and to buy medicine. I could go on and on. We are truly blessed even in the worst of weeks. Thank you God for your blessings and for fresh eyes to see them! Please help me focus on the blessings more and the daily stuff less.

Friday, September 09, 2011

MDA Clinic

Well, I guess I am getting good at being the squeaky wheel.
Sunday night, as is our family tradition, we attended the MDA Telethon. Since the year my brother, Jorge, was adopted, we have spent Labor Day weekend at the telethon. Leah has been to the telethon 6 out of 7 years of her life, including her first when she was barely 4 weeks old. She LOVES the telethon. If Labor Day is mentioned, she will ask about the telethon.
This year was no different and despite the telethon being much shorter, we packed up and headed down. We didn't plan to work at the telethon this year because we didn't know how the new format would effect or typical work and because Kate had been sick with bronchitis, sinus infections and pneumonia all week. Despite all this, the girls were not going to let us miss it. We ran around the studio and peek in on the set, ate lots of goodies and wreaked havoc for a few hours. As we were headed out the door to go home, I noticed a lady sitting by the door we were leaving out of. On her name tag I noticed "MDA Staff". I felt a tug inside and asked her about the specialist we were due to see in February. She informed us that they had just hired 2 new MD doctors and that she thought it was ridiculous to wait that long. She introduced us to another lady who was in charge of health services or something for MDA. She gave us her card and said to email her and she would get us in sooner. Tuesday morning I sent her an email and she called Tuesday night saying we had an appointment with the same specialist our February appointment was with, but for this Friday (today) at 1:00. WOW! We were all VERY excited and grateful for this much earlier appointment, but as it got closer, I think we all grew more nervous.
Leah, Glenn and I headed down to the appointment this afternoon. First off, we loved the doctor. He had the best bedside, a great sense of humor and was pretty thorough. He would say stuff to Leah like, "So these are your legs? Hmm...there's two of them." and the such to keep her laughing while examining her. He asked many, many questions about our family, history, Leah and ourselves. He didn't give much feedback during his evaluation, other than to say he didn't believe that she had facioscapulohumeral MD, which is what the last neurologist we saw thought she might have.
He then got into the nitty gritty. In short, he was not sure that she has MD, but was not sure that she didn't. He said their is a chance that she could be dealing with a different type of muscle disease or a metabolic disorder. He also is testing for Bethlem and Ullrich MD, as well as some liver disorders and DNA tests. He said that there is a good chance that we won't find a diagnosis or a "name" for what is going on. He said that each year they hope that they have gotten smarter, meaning there is a lot of unknowns still out there. He said that he is planning to continue to follow her in the future. He didn't feel that she needed to have a muscle biopsy yet. He did order an echo cardiogram and an EKG since muscle weakness all over will often effect the heart and lungs. We will schedule these soon. Some of the labs will be back in 1-2 weeks and some will take 6+ weeks.
When we asked about restrictions, he said he usually doesn't give his patients any, even in more severe cases. He believes in letting kids be kids. They know their bodies and how they feel better than we do. He did say that she needs to call the shots with physical activity. He told us that for any of the possibilities he could think of, we were doing everything he would recommend (physical therapy, equestrian therapy, procedures at school, etc.). The only thing he wanted to add was for us to see a child therapist. With Leah's tendency to extreme emotions, he wants to make sure she is well equipped to deal with pain, stress and change appropriately. He wants her to know how to communicate these things and be able to self soothe some. They gave some referrals and we will be looking into this soon. He acknowledged that she is having pain and some weakness, but felt like she/we could use some help in how to deal with it. He wants to see us again in February at our original appointment.
I can't say enough good things about the clinic. They were top notch from the time we came in until we left. We met with not only the doctor, but also the MDA health services person that got us in early, the nurse that I call weekly to see if there are any cancellations and a social worker that Leah now has access to anytime she needs anything. She thinks that is great since the social worker explained that she could get a note from the doctor saying that she needed less homework or more tv time. HA! And yes, she was joking! They were even nice enough to give Leah "magic cream" (numbing cream) for her lab draw. Only problem was that the tape they used to cover her arms hurt when they took it off. She was hysterical before they even got a needle out. The cream did work though, as she didn't even feel the poke. We then made our trip to the gift shop for a consolation/bribery prize. Then we met up with Jake and Amy, who were just finishing up with their appointment. We took a trip down to the trains to let the kids play and then made the journey home.
Glenn asked on the way home what I thought about the visit. Since he's walked through this with me, he is having some of the same struggles I've had in the past, especially with Kate. We both feel relieved that it isn't something horrifically obvious, but we don't really know where that leaves us. Is it real? Is it in our heads? Should we be happy it's not any worse? Upset that we still don't have an answer? Does she overreact? Do we under react? Are they missing something? There are a lot of thoughts swirling around in our heads.
A lot of this is just plain confusing. I hear the doctor say he's thinking she may not have MD, but he wants to continue following her and tests for some forms of it. I know how busy he is so if it wasn't a concern, why isn't he pushing us back to the general neurologist? Is Leah just seeking attention? When she is in "pain" all that she wants every single time is to go to her bed, where she cries herself to sleep. She has done this at home and elsewhere. I don't see how that is getting her attention. Everyone knows that she likes to fly under the radar, yet she has fully embraced the changes at school without any issue. She has no problem pulling out a cot in the middle of class when she is tired. If it didn't help her feel better, why would she do it and risk drawing attention to herself? And why would her behavior at home be so much more manageable when she takes her rests at school? I can tell when I pick her up if she has taken rests or not that day. It is making a HUGE difference. Why does the pain she feels seem so unbearable when it comes to her legs or a shot or even taking a bandaid off, but when she had her tonsils taken out she never once complained about pain or wanted her pain medicine? Is it because she can "see" some of the pains and not the others?
One of the biggest questions we have is regarding her strength. We notice a difference in her strength, endurance and ability. Her therapists who each work with her weekly feel there is an abnormality with it. The first neurologist noticed some weakness. The second saw it in some areas, but not too significantly all over. The doctor today said he noticed a mild weakness and a lot of loose tendons. Why the discrepancies? My uneducated guess is that it is hard to measure strength. They never use tools that would measure strength or grip. It is always pull my hand this way, push it that way, type tests. That being said, if you had several patients a day, how would you have a reference? How do you know what is "normal"? I don't know if I'm even making sense, but I don't know how some feel there is significant weakness and others don't really notice it. I plan on asking more about this at PT this week.
My basic feeling is blessed. While we would have LOVED to have more specific answers, I know that is out of my hands. Seeing as this is the second major time I've dealt with very similar issues dealing with the unknown with both of my kids, I think God is trying to teach me something. I realize more and more that my "unknowns" don't mean that HE doesn't know. More importantly, I don't always NEED to know. He does and that's what is most important. I am clinging to the few important things we learned.
1. So long as we don't push her past what she thinks she can do, we do not need to worry about causing damage. There is MUCH peace found in this!
2. Regardless of the specific name for what she is going through, we are doing everything that the doctor would be recommending following a diagnosis (except for the play therapy which we plan on getting in place ASAP). I can find peace in knowing there is nothing more I can do.
On top of that, we've got a great school with teachers and administrators that care deeply about our daughter. They are willing to let her make adjustments regardless of what we know or don't know. She is happy there and that makes us happy! I don't know that I will always feel this way, but for today this is enough to give me peace.

Wednesday, July 13, 2011

This Squeaky Wheel Got Greased

Tuesday morning I called the MD clinic to see if they had any openings come up. The scheduler did not have any openings, but assured me that I was on the list to call when something did come up. Less than 5 hours later, my new best friend called to tell me that they just happened to have an opening come up in the schedule for this morning. Praise God! We had SO many people praying that we would get in sooner and it was very apparent that God answered this prayer. I was seriously giddy the rest of the day. I don't know that I've ever felt that type of excitement, literally to the point of being nauseous. Leah was less than thrilled that she would be missing her 3rd day of dance camp and was even less impressed to find out it was for a doctor's appointment. None the less, we were going.

Leah has definitely been sensing our anxiety the last few weeks and has asked a lot of questions regarding why she was going, did she have to and the like, usually accompanied by lots of tears. When we got to the clinic we found out we were actually seeing the MD specialist's coworker, who was more of a general pediatric neurologist. We were told that they had talked about Leah's case and that this visit was not to replace the appointment in February, but rather to tide us over. We went over all of Leah's history and she did a full physical exam. There was a lot of pushing and pulling of hands, feet, legs, head, etc. The doctor was very friendly and thorough. When she finished the exam, she explained that she noted some general weakness, but that it wasn't too bad.

The area she found the most muscle weakness in was surprising to us all. Her neck, chest, shoulders and upper arms seem to have been affected the most. This is obviously an odd area for weakness and lead the doctor to believe that we probably are dealing with some form of Muscular Dystrophy. In addition to the weakness, Leah's tone is low. I asked for clarification on this and learned that this means she is "loose, overly flexible and floppy". Her muscles, ligaments and tendons don't do their job holding stuff in it's place. It surprised me because one of the things we've been working hard on, both in PT and at home, is her tightness. Her Achilles tendons and the ligaments/tendons behind her knees are super tight. The doctor showed us examples of her low tone (her fingers when spread can go much further than normal, her ankles roll inward, etc) and explained that ligaments and tendons that are tight are probably trying to compensate for the low tone and weakness. They try to counteract each other's problems. While it's neat that the body tries to fix itself, this is one of those cases that one problem leads to the next.

She then noted that while her reflexes are spastic, they are not pathological (I think that's what she said at least). Basically when they check her reflexes (rubber hammer to the knee), her feet spasm and she has what looks like an exaggerated response. My understanding is that her reflexes are still in the normal range, showing that her issues are most likely not nerve related. This is good news, especially since it means we don't have to have the elctromyography done, for now. She showed us some ways to check for muscle spasms when Leah is in pain. If she were having true spasms, then they would further evaluate for nerve problems.

We also discussed my grandpa, who was discharged from the Navy in the 40's with a muscle disease that they called MD, but were never able to pinpoint what was going on. They obviously didn't have the same technology and capabilities as they do now, but I did have a whole stack of papers from my grandpa to take with us. I spent sometime talking with my dad tonight and apparently grandpa had severe weakness in his neck, chest and upper body, as well. He was a part of several research studies and they told him he wouldn't live past 30 due to the severity of it. Despite this prognosis, he lived into his 60's, when cancer eventually took him. He was very successful and often hid his pain and disability. He wound up being one of the scientists working on the Manhattan project and the atomic bomb. He was a fascinating character, just like my dad. Dad told me that often grandma had to physically push him out of bed because he couldn't lift his head off of his pillow. All of this info would have been great to have today and I plan on conference calling him during our next appointment. :)

The doctor also reviewed all of these reports and labs. It's a huge blessing to have that history and information. Based off of the physical findings, Leah's history and our family history, the doctor feels it is quite likely that Leah does have a form of MD. She said that her symptoms don't fit any of the classic, well known MD's completely and suspects it will be a rare form or even possibly a new form. Looking at my grandpa's life, my dad (who also has had similar symptoms as my grandpa did) and Leah as of today, the doctor assured us that her prognosis was very good.

We had some blood drawn for some testing that the doctor didn't really specify and should have results on those next week. I am not expecting any big answers from it though. She did order a sleep study since Leah's legs often bother her at night (common in muscle disease), she still snores and she is still so tired despite getting 12+ hours of sleep a night. There is a small chance that she is having trouble supporting her airway while she sleeps, thus causing the snoring, possible apnea and tiredness. This probably wont happen for a few months. In February we will see the MD doctor and he will probably order a muscle biopsy, as well as some more tests.

Until then, we are to let Leah set the pace. The goal is to get her to the point that she can A) know when her body is tired or is on the verge of being in pain and B) voice this appropriately (see: without tears, screaming, drama, fits, etc.). This is going to be VERY important because there isn't much we can do for the pain when it gets bad other than heat, tylenol and massaging the afflicted area. Also, by the time she is in pain, she has already possibly done damage. If we can get her to recognize how she feels before she is in pain we can hopefully avoid the pain and damage all together. It's going to be imperative that she feels comfortable talking to someone at school about this so that they can help us avoid the afternoon meltdowns, pain and exhaustion that we dealt with all last year. This may mean she has to leave early or come late when she's having trouble. She will probably need to modify her PE time too. Hopefully they will work with us!

In addition to teaching her to recognize these warnings, she instructed us to be very careful about extraneous activities or anything that might damage her muscles. Normally when you attempt to get stronger, you exercise causing your muscles to break down so they can grow back stronger. In MD, the muscles do not regrow properly or at all. If she does indeed have MD and works on building her strength, she could do irreversible damage to her muscles, wasting away what good muscle is still there. This fact alone was so worth the visit and pushing to get in before February. We have been working hard on her strength in therapy and it scares me to think we could have done damage without knowing it. Our focus will now be strictly working on stretching out those tight areas and working on skills like balancing.

Leah has begged us to take ballet for a long time now and has been so cute going to dance camp this week. She LOVES it. I asked the doctor about continuing with a dance class and she said she could try it this fall as long as it didn't cause more issues. Unless it causes her pain, we will let her enjoy every minute of it. I'd hate to hold off on it only to find out she can't do it later. We've been blessed with the opportunity to have her take lessons at a small studio that a friend from church owns. It couldn't be a better fit for Leah.

So for now we will wait for the blood work to get back, get in for a sleep study, let Leah call the shots and take it a day at a time. We know that Leah is God's child and that He holds her in His hands. He loves her more than we do and His goals, dreams and aspirations far outweigh anything we could wish for her. We are so thankful that we got in early and that we have some answers to grasp and wrestle with.

We did talk to Leah on the way home and explained some of what is going on. We need her to be aware, but still want to protect her. We also wanted to be certain to get a clear diagnosis so that we don't mislead her. We have avoided using terms like Muscular Dystrophy and disease, as she is aware of what those are. After all, she knows Uncle Jorge and has "worked" at the MDA telethon almost every year since she was born. For now she knows what to watch for, that God made her exactly how He wanted her and that we love her. For now, we think that's enough.

I know this post is long, but here are just a few ways we've seen God at work in this:
- We had so many praying for a sooner appointment. Our therapist on Monday told me to call the MD clinic everyday if that's what it took. It only took one day. :) With appointments being scheduled 8 months out, I can't help but think we weren't the only ones on the wait list, nor were we first on the list. Also, my brother Jorge's, who passed away from MD (he was adopted), doctor is now the Chief of the clinic. So many little connections.
- The fact that we are already established with two therapies is awesome. Through recommendations from friends, we found two amazing, Christian therapy centers that truly love Leah and care about her best interest. When I called to tell them we got a sooner appointment, they were as excited as I was and sharing the news with each other before we hung up. They truly care. Both of these places have wait lists, often as long as a year, for therapy.
- While our insurance is not that great, they cover most all of the testing under our specialist copay. I can't tell you what a blessing this has been to have this insurance, at THIS exact time, with all we are having done. So much easier than our other 80/20 policy.
- As soon as we know for sure what Leah is dealing with, we will have Kate tested too. Obviously we need to know, but especially since Kate has had lung and heart issues. MD affects all muscles, including the heart and lungs. Praise God that we have a great cardiologist and pulmonologist already should we need them again!

Saturday, July 02, 2011

A New Phase of Specialists and Tests

I am, giddy... to report that Kate's lungs seem to be responding to the medicine she is on right now. She's had a few flare ups recently, but not near as often nor severe. To say it's been a nice break would be a major understatement. God is good!
While I've got a TON of catching up to do, still, I've got a lot on my mind that I need to get off, so bear with me. Leah graduated from kindergarten and overall had a wonderful year. She had absolutely no trouble learning everything she needed to, including how to read (and well) and how to tie her shoes. Her behavior was, as always in public, perfect. She made it through the whole year without having her clip moved a single time. She loved school, but often threw fits about getting up and going. She was tired and the constant going definitely took a toll on her. She was in bed between 7:45 and 8:00 every night and slept until 7:15 every morning. Even with 11-12 hours of sleep, she was still exhausted. I think she had over 20 absences for the year.
While Leah was an angel at school, from the moment I picked her up it was crying, drama, fighting, etc. I do, indeed, appreciate her being so good for others, but sometimes it is hard to be the "safe place", getting to deal with all of the negative. We've definitely noticed a link to her tiredness and behavior, but it seems even when she gets enough sleep, she's still an emotional mess.
Leah's self-imposed drive to be good or perfect has caused us great concern. Several times this year I picked her up in the carpool line, only to have her break down in tears as she approached the van doors. Twice she was running a temperature of 104 degrees with strep throat and once she had thrown up on the playground earlier that morning. Despite being obviously sick, she didn't let on to the teacher because she didn't want to "cause trouble". We talked at length about this with her and her teachers, but it didn't seem to make much difference.

A handful of times I picked Leah up, she was VERY upset and complained that her leg/side/hip hurt really bad. I know that Leah can be a drama queen, but this was pretty intense pain. She wasn't able to get in her car seat without me pulling over to help. The first time she was pretty hysterical and I thought for sure it was appendicitis's or something. By the time I researched it and learned it was on the wrong side, she had cried herself to sleep on the couch. Every time that it has happened since it has been a sudden onset of horrible pain that causes her to lay in the same position (curled up, partly on her hands and knees, partly on her side). Every time it happens she cries herself to sleep and when she wakes, usually within a few hours, she is fine. She has been pretty adamant about the pain really being that bad. We usually give her motrin and a heating pad. Every time it happens, I debate whether or not to spend the hundreds of dollars to take her to the ER or wait and see. It happens about every 6 weeks and is gone as quick as it comes. I kept thinking I need to get her in to the doctor, but when it's not hurting her, we don't think much about it. I often wondered if they were just attention seeking fits, but it didn't add up. She's had them at school before and even places like grandma's house and they are always the same.
After a family trip to the beach at the start of Spring, we decided the emotional problems where causing us all to be miserable and decided to take her in for a check up. It had gotten to the point that it is impossible to have fun as a family if she were around and in one of her moods. We discussed with the pediatrician what was going on. On physical evaluation, he informed us that the spot where this pain had been was right above the left hip where the tendons, ligaments and muscles connect to the hip bone. While examining it, she was very sensitive in that area despite not having a recent flare up. He also commented that her tone was very high and it was interesting to watch her little feet spasm as he checked her reflexes. He sent us in for a hip x-ray and also ordered a psychological evaluation, physical therapy evaluation, developmental evaluation and a referral for a neurologist here in town. We started the process of setting these up, after having no success going through the school district, and learned quickly that there would be nothing quick about this process. For the developmental evaluation we were told they would contact us in 6-8 months and schedule an appointment at that time. The physical therapy evaluation was going to be at least 2 months out, the neurologist a month out and I haven't gotten very far in finding a psychologist on our plan that is reputable yet.
We've always known that Leah is little and petite, but have began to notice so much more. Some of that is probably hypersensitivity knowing there may be an issue there. More and more she asks Kate (who is 3 and 1/2 years younger) for help with tasks such as opening doors, opening water bottles, carrying stuff, etc. At a recent birthday party we attended, they had the children line up by size to have a go at the pinata. It was interesting watching all the 2-3 year old's take their swings and watching Leah struggle to get the stick moving and in the right direction. Despite being one of the older little kids on the street she is the only one still using training wheels. She has a very hard time riding her bike even with the assistance. She has become more and more of a homebody preferring to stay inside rather than play outside with the neighbor kids. Being that she is the oldest in kindergarten (we kept her back last year because of her size, the fact she still napped every day and the fact that she made the cut off by 3 days) it has given us a pretty good indicator of the differences there as well.
After finding out how long things were going to take, we researched an equestrian therapy center near our home. It is run by some wonderful Christian people and it wasn't a week later we had an evaluation. Leah has been riding for therapy once a week since. She LOVES going and it is awesome to watch how the games they play on horseback cause them to stretch and work without them even knowing it. It has been a Godsend. Not only do they work on physical issues, the therapy is created to help with emotions, confidence, self-esteem and behavior as well.
The next appointment that came up was her physical therapy evaluation. The therapist she works with, Mrs. Kelly, is great. Upon evaluation she noticed some severe muscle weakness all over, both core muscles and fine motor. There were things she picked up on that we never have, such as Leah's ankles not resting above her heels showing that she us unable to support the weight of her tiny frame. She made the comment that she hopes to get Leah's strength up to the level of a 4 or 5 year old (Leah will be 7 in a few weeks). Mrs. Kelly noticed several places that her strength was not at level and said it would be wise to start weekly PT there as well.
Some background with Leah.....She was born at 35 weeks after a difficult pregnancy. She spent 8 days in the NICU with IV's and a NG tube and had a rough time learning to feed by nipple, both bottle and breast. She was the type of baby that if she was awake, she was screaming. I'm not talking just fussy, I mean screaming. I don't know that I left the house with her much at all her first 6 months and was scared to death to leave her with a sitter. I knew what her screaming did to me and I couldn't imagine what it would do to someone else. At her 4 month check up, she hadn't gained a single ounce nor grown in length since her 2 month check up. Leah's muscle tone also seemed very poor, as the doctor described her as "limp". The doctor gave us a week to work on it before putting her in Texas Children's with a diagnosis of Failure to Thrive. During that week, we met with the lactation consultant a handful of times to make sure she was getting enough milk and everything seemed fine there, but she still wasn't growing. We spent the week before her first Christmas receiving every test imaginable by every specialist in the hospital, or so it seemed. In one day alone, I counted 45 doctors/nurses/students through our room. They never came up with any clear answer. I had seen my baby tortured enough and made the call to switch her to formula, just to be sure. Within a few months she started growing and getting stronger. The doctor that admitted us said she was sure she would be diagnosed with Muscular Dystrophy or something of that sort. She commented that she didn't know who all had been praying for our baby, but it obviously worked. Apparently the difference was pretty drastic.
Leah has always been small. Right now she's holding steady below the 10th percentile and that is the highest she's ever gotten. She's typically below the chart. Since the time she was 2 she has complained about her legs hurting. Usually this complaint comes when she is tired. A few times since her toddlerhood she would be awaken at night by these leg pains and the doctor chalked it up to growing pains. When Leah gets tired and her legs hurt, she will simply sit down, complain that they hurt and that's the end. You can't get her to get moving again after that (not even at Disney World). Leah also has had a spot on her back that is like a little crack at the top of the crease in her bottom. I've looked it up before and it is the spot that remains open in people with Spinal Bifida. Hers is closed but is still pretty deep and large.
Being that Leah was born at 35 weeks, I have always known there was a chance that she had some mild Cerebral Palsy and assumed that was why she was the way she was. At the end of the physical therapy evaluation, I asked the therapist if she thought that's what her diagnosis would wind up being and she simply said she needed to evaluate her further, but that she wouldn't call it that. We had two more evaluation/therapy sessions before the appointment with the neurologist rolled around.
We showed up for the neurologist appointment and could tell immediately that he wasn't a pediatric neurologist. There were many stroke victims and Leah was probably less that 1/10th of everyone else's age. We went over some history, which the doctor seemed uninterested in and then he had her push and pull his hands and arms in different directions. He noted that there was muscle weakness and he felt that she should be seen downtown at the children's hospital. He said he knew exactly what doctor he wanted us to see and that he would pull some strings to get us in soon. He also mentioned that she would need an electomyography done, but that you only want to do that once and he would let the office downtown do it. After a brief recess thanks to a very loud fire alarm blaring in our ears, we came back in and he had left some lab work he wanted ran. When I told the nurse I hadn't had a chance to ask him my list of questions, she seemed put out and went to find him. Along with my list of concerns, I tried asking what he thought might be going on and every question I had was answered with, "You can try and pin me down, but I'm not going to give you an answer" and a "nice guy" smirk. The only question he answered outright was that this was definitely not Cerebral Palsy. They set up a followup appointment for about 8 weeks later to discuss the results of the testing that would happen with the doctor downtown and when I asked if they thought we would be done that quickly, I was assured with a "Oh yeah" from the assistant.
I left feeling a little frustrated. The blood work he ordered had to be done in the morning, so I did exactly what I know NOT to do....Googled every single test he ordered. There were two testing for muscle disease and two for endocrine issues. The next morning we went and had the blood drawn which was quite unpleasant. I called the office after a week and was told the lab results had been in but the doctor hadn't had a chance to review them. I finally received a call back and the nurse said that Leah's thyroid was at the very low end of normal and that we should recheck it in 3 weeks. This wouldn't effect her this way though. Everything else was normal and it showed she doesn't have muscle disease. I asked, "So those two tests tested for ALL muscle disease?". "I guess so! That's what it says here." the nurse assured me. When I asked if we should still see the neurologist, she didn't know anything about that. She put me on hold and asked the doctor who did want us to see the neurologist still. When I asked about a referral she assured me it had been done, despite the fact she didn't know we needed to see one.
After weeks of checking with the hospital to see that they got the referral and waiting for it to be processed, we finally received an appointment date. The scheduler explained that we were needing to be seen in the Muscular Dystrophy clinic and that our appointment is for February 2012. I was in total shock. By now the fact that whatever we are dealing with was not just CP, as I had originally suspected had sunk in a bit, but the words MD stung a little. I asked if there was anything sooner with another doctor and was told that was the soonest and that this was the doctor we needed to see. I panicked and called my mom in tears. As many of you know, I had an adopted brother, Jorge, who had Duchene's MD and lost his battle 5 years ago. I've worked the MDA telethons for 2o years. I know what MD is and never suspected it or anything like it lived in my house. My dad's dad was diagnosed in the 40's with rare muscle disease that they called MD, but they didn't have the science that they do now to diagnosis it specifically.
I immediately began researching MD, neuromuscular doctors and the such and every search I did brought up this same doctor's name. I am still in awe that a medical center and city this size has one doctor in this speciality. In my searching I did find that Jorge's doctor is now the chief of the department and in learning that my mom wrote him a letter asking for advice. I contacted MDA and received the same name. I contacted friends and received the same name. Literally this is THE guy to go to. That is great, as I always want the best doctor and care for my for my family, but 8 months away? EEEEKKKK!
I called back to the neurologist we saw here and left a message stating I had questions for the doctor, if he could please call me back. Of course it was a nurse that called me back. She started the conversation with, "If you have more than 2 questions, he's not going to answer them. You'll have to make an appointment to come in and talk with him". In other words, "Give us more money". When I brought up my concerns with the appointment being so far away, she was shocked. She talked to the doctor and called back to say he didn't really have any "strings to pull" and if we were concerned in the meantime, we could come back in for an appointment. Hmmm, another $50 for you to tell us you don't know what to do? I think I'll skip out on that one. I also asked for clarification on the lab work. If the test showed she didn't have muscle disease why are they sending us to an MD clinic? The doctor said that the labs tested for the more common forms of muscular diseases, but that it would take a bucket load of blood to test for them all. The doctor downtown would know what specific tests to run for her.
In my panic, my mind wandered all over the place. How will this affect school and what should I tell them? What do I do to help with her pain now? Could she really have something like this and we didn't know? Do we keep doing therapy or drop it? What should I do proactively? I keep reminding myself of two things: 1) She is mine on loan. She belongs to God and he somehow or another loves her MORE than I do. 2) She is still the same Leah she was last year. However as a mom, your heart breaks and you want to do everything in your power to help your kiddos.
Friday I called back to the scheduler and asked if we could see a general neurologist at the same hospital to get some answers while we wait for the appointment. She explained that all referrals to this clinic go through the chief of the clinic who assigns them to the specialist they need to see. This means the chief also felt we needed to see this specific specialist. If we got a second referral, the chief would look at the symptoms and route her to him again. I tried to explain that I am certain that everyone wants their appointment sooner that the 8 month wait, but I didn't know what to do for Leah in the meantime. I don't think they realized that we have yet to receive a diagnosis. She assured me that she would call if there were any cancellations or openings and I assured her that we would drop everything and be there in 45 minutes regardless of the day or time.
Leah wound up with pink eye this week and Kate with an ear infection so we went to the pediatrician's office. It was good to bring him up to speed on what all was going on and get his opinion on the situation. The plan for now is if we don't get in on a cancellation in 3 weeks, we will see a general neurologist at a different hospital and keep our appointment with the specialist. The pediatrician did explain that Leah does have a formal diagnosis of myopathy, which simply means a muscle disease causing muscle weakness. At least we have that to use to try and get some help through the school system. I have been in constant prayer since, that an opening would come up soon. I plan to call every week and make sure they haven't had any cancellations come up. The squeaky wheel gets the grease, right?
Part of this dance in life has been trying to keep Leah from worrying or feeling like there is something "wrong" with her. She has been asking a lot of questions and is way to observant for her own good. At this point she enjoys playing games and riding horses and that's good enough for me. For now, we will let her set the tone for how much is too much and answer the questions as they come. Last night she woke up with a cramp behind her knee that had us all awake from the screaming. I just wish we knew what to do. Personally I struggle with what to do and how to feel. I know God will "grow" us through this all if we let him, but I struggle with when to be patient and wait 8 months for the appointment and when to push and stand up for my baby. It's hard to know what He's trying to teach. No one ever said motherhood was easy, but man, I sure underestimated it!