You can search the internet for all sorts of site containing information on Muscular Dystrophy or narrow it down to Myotonic Muscular dystrophy (MMD) and you'll all find the same information. I thought that it would be helpful for the people out there who find this and are going through the same thing wondering "is this normal", or "will she be able to do this or that?" I had and do have all the same questions that I expect every parent who has a child with congenital MMD to have. So I wanted to share Dallas's story of her start at life living with congenital MMD.
She is almost 1yr old now. She'll be one on August the 9th 2011. She was born 8/9/10. I'll start with the pregnancy....while she was in- utero she didn't move a whole lot. I felt her kick every now and then but she was my first child so I didn't know what was normal and what was not. Come to find out what I thought were mostly kicks and punches were actually just the hiccups! I think she was mostly in the same position during the whole pregnancy because i never felt her kicks any other place up top and her punches down low. I now here other ladies who are pregnant complain of how uncomfortable they are and how much their child moves and it surprises me because I never experienced that. My pregnancy was sooo each because she hardly moved, she never kept me up at night moving and since she was relatively still most of the time it wasn't that uncomfortable. All though they may stay those thing i think that is a blessing telling the mother that you're baby is all right. You don't have to worry that your child may possibly not still be alive because you can't feel it moving, even though for her it is normal.
She was born on her due date, 40 weeks to the day, 6lbs 6oz. After delivery and during the next two days in the hospital I saw many many doctors. They all came to visit me telling me, a first time mother, "there is something wrong with her" or "she has some sort of syndrome." They were determined she had a syndrome. She was born hypotonic with clubbed feet and a fussed suture in her skull which is later found to be call craniosynostosis. Any mother with a congenital MMD child will hear the word hypotonic often. I believe it is low muscle tone, and weakness. She didn't move hardly at all. Even being newborn they could tell by her lack of movement and lethargy that something was wrong. She wasn't even premature so they couldn't blame it on that. They brought in a geneticist and thought it was Prader-willie syndrome. Took our history and my grandmother was diagnosed with Charcot-Marie-Tooth disease (wich I think may be a misdiagnosis) and I don't think they even considered that because they didn't even test for it which made me a little angry. She was put into the NICU for 10 days because she wasn't feeding well, she didn't have the sucking reflex so they have to gavage feed her, to feed through a nasal tube. They introduced the bottle slowly once a day twice then every other feeding. She only got upgraded if she ate two ounces without falling asleep. If she didn't finish the two ounces in 15 min. to a half hour they would feed the rest through the tube. They did this every two hours. They only release her from the hospital after a trial night of eating from the bottle only for a 24 hour period. It took her 10 days from birth to accomplish this. I've read on other sites that more severe cases of congenital MMD babies will be on respirators, ventilators and gavage feedings for months. I don't think in fact I know that Dallas is not a severe case. I know she has it and is struggling with it. It took us 4 mo. to find a diagnoses for her. I think we were very fortunate that we didn't have to wonder for much longer what was "wrong" with her.
My brother who is 4 years older than me was diagnosed around Thanksgiving week in 2010 with have the adult onset of Myotonic Muscular Dystrophy. The following January of 2011, so not long ago, Dallas had an appt with a neurologist. She was actually referred there by her pediatric orthopedist for her clubbed feet. We saw Dr. Ai Sakonju at Primary Children's Medical Center in Salt Lake City, UT. She is a pediatric neurologist. When we saw her for the first time she told us as soon as she walked into the room she could tell just by looking at me I have MMD. That fact that Dallas had it and she was my daughter confirmed it. Only the mother can pass on the congenital form. Apparently I've have the adult onset form of MMD and never even knew. My brother's had progressed so far it was interfering with his every day life and needed some answers. We all though it was Charcot-Marie-Tooth (CMT) which I guess is similar in many ways. We got her genetically tested and my brother got genetically tested and they were both confirmed with MMD. I believe the tests run upwards of $4000 without insurance or without a reason. She was found to have about 636 mutated repeats and my brother was around 336 give or take a few. Her neurologist said that a lot of congenital babies are found to have over 1000 repeats, but the number shouldn't be used as a prediction of how they will turn out.
So finally we had a diagnoses, immediately after leaving our lives had changed it seemed so bizarre thinking "oh my gosh, I have a disease." Just the word "disease" is a scary thing. I like to think of it more as a syndrome. Unfortunately the initial outcome is not very pretty and I am scared. I'm not going to lie, I don't like the thought of what it will probably be like when I'm 5, 10, 20 years older. Probably wheelchair bound and unable to take care of myself. So, I don't think about it, I live day to day. I talked to my family physician who's been treating me during my pregnancy, delivery and afterwards. I see him as Dallas' pediatrician. He has two little boys with Autism so he knows what it's like to have children with disabilities. I saw him a few weeks after the diagnoses with chest pains that we kind of diagnoses as anxiety and we talked it out. He said something general but insightful. He said why dwell on the future, why let it bother you. That's in the future we may die today or tomorrow. As unsympathetic as that sounds unfortunately that is the truth. That's why I only try to live day to day and just plan for the future a month or so at a time. I've also found that doing this my anxiety level has decreased considerably.
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