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.