Pinetops, North Carolina

Rachel & sister Sarah
As of Saturday July the 14th, this will be a 15 year journey for our family.

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
We were like all of you I’m sure, totally stunned by this weird sounding disease. Because of the late diagnosis (our state did not test at that time) Rachel suffered irreversible brain damage. She is physically handicapped. She was delayed in all areas of gross and fine motor development. She finally started crawling after her little brother came along and he started to crawl. She soon followed suit with the walking as well. Today she uses crutches to walk and a wheelchair for long distances.

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
Seth had a few hospitalizations when he would get a virus. He would do crazy things like hallucinate or appear to have gotten into a wine bottle because he couldn’t stand up or walk straight. These were usually quickly resolved and we would return home. On 12/26/05, shortly before his 12th birthday, Seth became quite ill. He was vomiting, extremely pale and extremely thirsty. We started our routine, the cake icing, the high calorie fluids etc. We were not going to resolve this at home, so off to the hospital we went. In the ER, the usual fluids were started, Lactated Ringers and D10. The staff reported a high blood sugar but was pretty sure it was not correct. They pulled out their glucometer on the floor and checked it again. It registered “HI”. The doc had the lab redraw a stat glucose and it was still high, over 900. We had just gotten to our room and then we were off to the ICU. We stayed over a week in ICU. Seth now had diabetes too! Like you, my reaction to the doctor on the way to ICU was “it can’t be diabetes, what will he eat?” We were stunned, again! The doctor told us later that she could only find one other case of a both MSUD and diabetes. For the first time Seth ask “why me”? He’d always had such a great attitude about MSUD and dealt with it like an adult…. or better. After the first 2 days in ICU, our nerves began settling a bit, so we could comprehend what was going on and how this would all work out. Seth’s attitude totally changed and he was back to his old self with all the confidence that he’d ever had and more. He told me before discharge that this had all happened to him for a reason and that GOD knew what he was doing. Wow, I was thankful.

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.

My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

Read More

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

Read More

Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

Read More

Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

Read More

Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates