Rachel & sister Sarah
What a ride it has been. Our first child, Sarah, was born 8-13-90, healthy and without MSUD (not that we cared at that point). On 7-14-92, after a normal pregnancy, Rachel was born, a healthy beautiful baby girl. She quickly became ill, fed poorly, cried all the time and was very irritable. At 10 days old, she quit breathing and I had to do rescue breathing at home. She was hospitalized at out local hospital and soon after discharged with a diagnosis of apnea and poor feeding.
Rachel came home on an apnea monitor; it alarmed all the time. She continued to eat poorly and cried almost non-stop. At 3 months old, she took a turn for the worse. She became quiet, was having focal seizures and would not eat at all. She was taken back to the hospital and from there was sent to a bigger medical facility where she stayed for about a month. She was there for 2 weeks before they knew what was wrong with her. They then gave us the grave diagnosis of MSUD.
Sarah, the cheerleader
In kindergarten she was taken out of regular classes for remediation, but it was soon found that she did not need this. She has been in regular classes in school ever since. She is not an academic achiever but she does well and usually brings home B’s and C’s, with occasional A’s and D’s. We’re proud of her! She has a gift for socialization, she is almost always happy in spite of her situation. She takes on new challenges without hesitation. She tried out for cheerleading in the 7th grade but didn’t make it. That didn’t stop her from trying out the next year, and she did make it. She went on to be voted as the cheerleading rep for the squad. She has already tried out for high school this fall and will be on the JV squad. Rachel still doesn’t like her formula but drinks it without any problem. She follows her diet well. She has had very few hospitalizations due to crisis. Last year was the first time in about 4 1/2 years.
On 1/19/94, Seth was born. When I became pregnant, I had an amniocentesis done to test for MSUD. It came back positive. We were devastated. To think that you could possibly have 2 of these children and afford the formula was a dilemma in and of itself. The pregnancy was completely normal as well as the delivery, (all except everyone was freaking out at the little local hospital because they knew he had MSUD. I had to beg to hold him.) The next day he was transferred to Duke where he was stuck and examined over and over. Oh, if I knew then what I know now! We came home after about 10 days. He did well, fed well and had a good appetite. Even though he was started at birth with the formula, to this day he still doesn’t like it, but drinks it without being forced.
Seth & sister Sarah
Since that time it has been quite a journey. It is indeed a daily challenge to keep it all in balance. Basically, Seth continues to follow his MSUD diet and counteracts his carbohydrate intake with insulin. He takes a minimum of 4 shots a day plus any extras for when he wants to snack on protein free (sugar-loaded) candy or other low protein snacks. He does all his glucose testing and injections himself. He has done so remarkably well with it; I can still hardly believe it. He has had more hospitalizations due to his MSUD since this than before. We are still not sure if there is any relation between the 2 that has caused this. Seth has also been treated for ADD for about 4 years. He is extremely active, plays all the time and has been on the ball team at school and in town. He performs average in school, although he has the ability to be above average. I’m convinced that his imbalances with both MSUD and diabetes have a direct impact on his day to day performance at school. Seth follows his diet well and is keenly aware of what makes him feel bad.
Both Rachel and Seth take 90gms of Ketonex-2 daily and count protein grams for an allotment of 15-19gms everyday. Though they are not classic MSUD, they do not eat any meat or dairy products.
Our oldest daughter, Sarah, deserves the “Best Sibling Ever Award”. She has been most supportive and patient with all the extra time and energy that must go into special needs children.
Our health care for the past 13 years has been phenomenal. We have the best Health Care Team in the country. (No bias here). We go to UNC- Chapel Hill in Chapel Hill N.C. From day one they were all on board, quick to respond, always listening to us and made us feel more like family than patient/ doctor. Our doctors are Joseph Muenzer and Mugu Calikoglu. Our dieticians are Dr. Diane Frazier and Dr. Sureka. Without them I dare to think where we might be today.
First and foremost, Christ has been our saving grace. He has led us through these years of uncertainty and given us the strength to carry on. He has blessed us with a wonderfully supportive family and friends. For that we are so thankful. We hope that in some way our story will help someone else to cope or feel encouraged.