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!

1 comment:

Amy said...

I am constantly praying for all of you. Will be praying for patience for you as well as God's intervention for quicker answers. We love you guys and would love to help any way we can.