Thursday, June 04, 2015

What's New

I’ve gotten so many questions about Kate lately, I figured it would be easiest to just put all of the info in a note. A lot of the questions come from just wanting to understand more of what is going on and what it’s like. I hope this helps bring anyone interested up to speed. I had a very long talk with Kate’s immunologist last week and feel we are just starting to get a grasp on what’s going on. I’ve also found some support groups online that have been a wealth of information. Hearing from an adult what it is like has been so helpful! Writing this will also help me process things more “out loud”. I can’t guarantee it will be short though and will not be offended if you don’t read it all. J Also, I don’t feel like we had much info going into this ordeal and I hope and pray that we can share with other families going into something similar. God gave us two families locally to lean on and several from afar and it’s been unbelievably helpful. I hope that we can do the same at some point.

INFUSIONS: Kate has had 4 IVIG infusions to date. These infusions are specific antibodies pulled from 10,000 to 50,000 plasma donors (per infusion) and given to her through an IV. These antibodies are to give her body something it is not creating properly on its own, specifically IGG. It is similar to being low in say vitamin D and taking a supplement to add to what your body creates. With IVIG, these antibodies are metabolized in about 3 to 4 weeks, meaning they have to be replaced that often. Her body gets a big “peak” dose at infusion with the goal being her “trough” numbers, or her counts 3 to 4 weeks post infusion, will stay within a “normal” range. Kate has doubled her IGG numbers since starting infusions, but they still aren’t high enough. We are constantly tweaking her doses to get her just the right amount. This is a lot of guess work, as every individual metabolizes the antibodies differently. Her infusions have been every 4 weeks, but the next one will be after only 3 weeks. They are trying to see if they can’t help increase her trough numbers. The doctor (and I) will be out of town at the 4 week mark, so it works out well for our schedules too. Unfortunately, the higher the amount we give her gets, the worse the side effects get.

SIDE EFFECTS: The IVIG infusions have a very high viscosity. This causes the meninges, or lining of the brain, to get irritated. Some patients have no side effects from IVIG infusions, some have mild symptoms like tiredness, and yet others have horrible ones. It’s very tricky, from what I understand, to find the right balance to controlling these side effects. The reaction is different for every single person, with some having issues during infusion and some after. For Kate, she feels fine during infusion and for at least 24 hours after. Typically between the 30 and 40 hour mark, Kate’s side effects hit. She will go from being completely fine to completely horizontal in a split second. It is very frightening how fast it comes on and how out of the blue it seems. For Kate, she gets aseptic meningitis. Her head hurts incredibly bad and feels like it’s on fire (to her and to the touch). She can’t sit up, let alone walk, even to go to the restroom or throw up. She is achy all over and feels like she’s been hit by a truck. She can’t focus her eyes on anything and talks nonsense. She cries, whimpers, and giggles in her sleep. She won’t eat for 24 hours and can’t handle light or sound. Unfortunately, there is nothing we can do when it hits other than simply treating her symptoms. It’s pretty miserable for me and I can’t even imagine what it’s like for her. We give her Benadryl and Tylenol every 4 to 6 hours around the clock and Zofran for the vomiting as needed. We learned through the support group that ice packs on the head help and she’s found some relief with those. Unfortunately, the amount of heat she’s radiating causes them to go warm within 30 minutes leaving us changing them out constantly. The first few times it happened I was sure that it was because she didn’t take it completely easy after infusion, but her doctor has assured me that this probably isn’t the case. As quick as it comes on, it goes away. Usually she has 24 hours of miserable and then headaches and a hot head off and on for a week or so. Thankfully, we haven’t had to be hospitalized for the symptoms. This mommy does NOT like hospitals and will do whatever it takes (ice packs every 30 minutes, timers all night for meds, etc) to avoid them. Sometimes you can prevent side effects by premedicating, over hydrating, and slowing down the speed at which she gets the infusion. We’ve tried most all of them. This next time, we will be adding a steroid before infusion. I really didn’t want to do this because of the side effects of steroids and because she has been on so many steroids already in her life. If this doesn’t work, we will have to switch to a different “brand” of infusion and different technique where she will get smaller doses, just under the skin on her tummy (called SCIG or subcutaneous immunoglobulin), once a week instead of the IV every 4 weeks. Basically it just breaks the dose down into four smaller doses. Some patients tolerate this better, but it’s harder to make adjustments to get a patient’s trough levels up to normal this way. This may be an option we look into after her trough levels come up because we can eventually do them at home.

C-DIFF: Kate was diagnosed with C-Diff, an intestinal infection, back in January. She was having some stomach issues at the time and I think it may have been an unrelated finding on one of her samples. It is basically an overgrowth of bad bacteria in her gut, often caused by antibiotic use. With her having been on more than a hundred rounds of antibiotics, it’s not surprising. Ironically, the treatment is a very strong antibiotic that kills off the good bacteria, like other antibiotics, but also kills off the bad bacteria, giving the gut a clean slate again. We’ve treated for this 3 times now since January with no luck in killing it, despite enormous amounts of probiotics to help populate the good guys. The nasty antibiotics did kill off all sorts of things leaving her with a bad case of thrush each time. We then had to treat that with an antifungal, all 3 times. In the end, we’ve come to the conclusion that the C Diff is colonized, or has set up residency in her gut. Kate does not currently and never has had the symptoms of C Diff. In the end, when faced with the decision of leaving it or a fecal transplant (yes, for real... no, don’t Google it), we decided to leave it. More than likely it will create an issue at some point, but for now we are leaving it be. There have also been some studies on drinking the IVIG solution to treat the gut. We may look more into that versus the number 2 option……

IS IT WORKING: This has been one of my biggest questions, too. With all of the “sick care” during these meningitis periods, it hasn’t felt like she’s been well. On top of that, the treatments and meds for C Diff, followed by treatment and meds for thrush, hasn’t felt like much of a break. We still seem to be at the doctor and pharmacy a LOT still. THAT SAID, when reviewing her history for the last 4 months, she has only been truly sick one time. That is huge! She had bronchitis, croup, and a sinus infection all at the same time, BUT it cleared up with just 1 round of antibiotics for 14 days. That is also huge! She hasn’t had any other infections, stomach bugs, or other viruses since starting infusions. So while it certainly doesn’t always feel like it, I think it truly is making a difference. The good news is it will only get better from here. This week I asked Kate if she thought it was helping. Keep in mind she has to endure the infusion and THEN meningitis and the horrible side effects, knowing that it is coming. She said she feels much better and feels happier. I don’t know that any of us, including her, know how bad she’s felt every day prior to. I do know that she has a ton more energy (not always a good thing!). She calls IVIG her “go go juice” (thank you, Karen L! -G) and some days I wish I could have just a shot of it. Glenn and I noticed that we have not ever heard her laugh as much as we have in the last few weeks. This gives us a little more patience in dealing with the ugly of it for now.

DIAGNOSIS: If you’re reading this, you have no doubt heard that our heart’s desire has been to have a diagnosis for Kate for many years. I’ve believed that it would help us in caring for her and finding a treatment that would work. While there is truth to that, I put far too much weight in the idea that “I” could do anything about any of this. With some gentle prodding, I’ve come to realize that I need to get over that. A few weeks ago I reached a point, after entering in to a place of anger, that I suddenly didn’t want a diagnosis. Honestly, the thought of one felt like it would box us in. On Wednesday I talked at length with our doctor and asked a lot of questions, as I needed to have a better picture of what things would look like past the next 4 weeks. There is benefit in just focusing on the now, but with increasing bills and decisions to make, it’s hard to plan life 4 weeks at a time. When I asked about a diagnosis, the doctor said, “Well, of course we do. We wouldn’t be doing this without one.” Ha, so typical. For us, we never really heard anything specific about a diagnosis. Sure we heard, “this number is low” and “such and such is off”, but none of that meant much to us. They continued to run test after test and were obviously searching for something. To the doctor, she had found the WHAT, but is still looking for the WHY. She has two diagnoses to date and has some pending labs from 2 months ago that we are waiting on results for which are looking further at whys. After those results are in, they really have nothing else they can test for at this time. They still take 3-15 vials of labs at every visit, though that may decrease after this. She has been diagnosed with hypogammaglobulinemia and Specific Antibody Deficiency or SAD for short. I’m not sure why they couldn’t come up with an abbreviation of the first. J Hypogammalobulinemia means her immunoglobulin levels are low, specifically IGG for Kate. Specific Antibody Deficiency means the antibodies she does create on her own, don’t function the way they are supposed to. This means her body doesn’t mount the proper response to viruses and bacteria. This became apparent by the fact that her immune system doesn’t retain knowledge of a response to vaccines. In the case of vaccines, it leaves her with major gaps in protection. Worse yet, her body can’t retain knowledge of viruses and infections she’s been exposed to. So every virus and infection she’s exposed to, her body has to learn to fight over and over again, as if it were the first time she was exposed to it. Both are genetic issues that have been there since birth. Both are treated by IVIG infusions. It blows my mind how it all works, but the 10,000-50,000 donors give Kate’s immune system the knowledge of how to fight based off of illness the donors have been exposed to and immunizations they’ve received. It is mind boggling, for sure! It’s like downloading an immune update to her system every few weeks.

WHERE DOES THAT ALL LEAVE US: Basically we are just trying to hang on for the ride. Knowing that this will be a long term thing leaves me feeling like I need to settle in to a new norm and get “used” to it. However, this has been WAY more disruptive than we expected. I can’t believe how fast 4 weeks goes by. It seems like for now our weeks roll by like this: We have infusion day which involves a minimum of 7 hours at the med center. The stress level is high that day, but Kate has handled it like a champ the last two times. We have been having Leah go to a friend’s house, which usually means a midweek sleep over to avoid more stress that morning. We all spend the next day recovering and trying to take it easy and prepping for the inevitable. I have to make sure that we have Gatorade, groceries, and medicines on hand, and any other errands done, as there is no running out to get them once things hit and there is no telling when it will hit. The day after seems too easy and it’s easy to forget she’s going through anything. Then, the meningitis hits at an unexpected time and we try to control symptoms and not freak out. With every four hour medicines, not much sleep is gotten in these days. She, then, starts feeling better and we tiptoe hesitantly back into normal life, praying she doesn’t overdue it. About a week later she’s feeling great and full of energy. We carry on with normal for 2 weeks, just long enough to forget the bump ahead. The days prior to infusion, Kate starts feeling down again. We haven’t pinpointed if it’s the levels wearing off so that she physically feels worse or if she’s just anxious and sad about the next infusion, knowing what it brings. Then it’s rinse and repeat…. We will continue homeschooling for next year. I cannot imagine what it would be like to have either one of the girls in school during all of this. Thank God for that blessing as exhausting as it is.

Kate is an absolute rock star. I don’t know that she could handle all of this better. She amazes the nurses, doctors, child life specialists, and everyone else, every time. She is tough, brave, smart, and keeps a sense of humor through it all. She always puts up a fight for her IV and I don’t mind that she does. She is never disrespectful about it and always responds obediently. I don’t ever want her to get to the point that she doesn’t want to fight it. Yes, she’s getting used to it and knows what to expect. But I want her to have that little bit of fight in her always.

Glenn and I are doing fairly well. Overall, it feels like a mechanical bull ride. Who knows what way is up and what direction we are going, just avoid hitting the mat. Our communication has much improved, Glenn has gotten much more involved in Kate’s care, and we seem to be in step with each other. I can’t speak for him, but for me it’s been an uncomfortable season. I’ve had to start learning to ask for help and even texted a friend regarding chicken nuggets the other night. If you know me well, you know that is some serious desperation. J I’ve spent a lot of time thinking out loud and have found myself in a place of beautiful, uncomfortable anger. I think my inability to do anything in this season has left me alone with my thoughts and feelings. I’ve had to follow my thoughts of “if God______, then _____” through to the end instead of finding a way to fit ME in there. It’s left me sorting through feelings, looking for the roots, and trying to learn to point those in the right direction. I’ve become angry about Kate’s health and the path that has been handed to me, but instead of shutting it up because that “feels wrong”, I’ve been able to follow that all the way through to the fact that I am mad that Satan has ruined this world and damaged my innocent daughter in that. It absolutely sucks to walk this path and that is okay to say. I just have to constantly watch that my anger and disappointment stay towards Satan and not God. Trying to find God’s truths in this broken place can be so difficult and Satan would love for me to turn that anger towards the Creator of all perfect things. I still struggle to find a place that I can honestly say “It Is Well” with me, deep down in my soul.

PRAYER REQUESTS: We absolutely covet your prayers. To know that we are being lifted up and covered by so many people’s prayers, is the coolest part of this whole journey. I don’t know how people handle life without faith and friends like you all. Thank you from the bottom of our hearts!
-         Obviously, the biggest one is for healing for Kate. We’d love for her the infusions to give her system a break and a chance to restart. We pray that God will heal her completely. While we wait for healing, we pray for protection for Kate, spiritually, physically, and emotionally. It’s no shocker that something like this comes with huge risk in all these areas. We pray that this whole ordeal will not negatively affect her relationship with God and that we will be able to nurture that. Often she hits us with loaded questions and it leaves us feeling like we are traversing a field of landmines.
-         We would love to find the perfect balance of having her numbers where they need to be without side effects. We know that He is more than able to do that and pray that He guides that process.
-         Glenn and I are faced with so many decisions every day regarding all of this. Please pray for wisdom for us, for protection for Kate in our decisions, that we will have wisdom beyond today, that we will have unity, and that we will follow His leading. Also, that we will stand firm in our decisions and not let doubt creep in. It is so easy to second guess every single decision that we make. Pray that God would use this to strengthen our identity in Him, both individually and as a couple. The logistics of everything that having a chronically sick kid involves can be crushing sometimes. We’d love prayers for wisdom in finances, time management, balance of priorities, and knowing how to take care of and serve ourselves and each other well. Pray that we would all choose joy in every step of this journey.
-         It’s been heavy on my heart that Leah doesn’t get lost in the mix of this all. We have tried to make this a priority all along, but as a mom I still worry about it. She seems to be doing great. I pray that if she is struggling or begins to, that God will show me that clearly and that he will show me how to better minister to her. I pray that as only He can, he will use this to grow her character and testimony.

Thank you friends and family for doing life with us, even when it gets messy. We are blessed by you all!

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!