Stephanie & Luke

MMA, Mut 0

Our daughter Stephanie was born 7 weeks early. She weighed 3lbs 5oz. I had preeclampsia. She stayed in the hospital for a few weeks, until she could eat and grow. Several pediatrician visits were noted that her growing was very slow. The doctors reassured me it was because she was premature. Her diet was Similac and I was starting to introduce some cereal as well. She spit up a lot and we thought a little cereal might help with that.
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At 6 months old she woke with what seemed like the flu, vomiting and sleeping a lot. That evening she was brought to our local ER and then transferred to a children’s hospital by ambulance. Her blood results were too much for them to handle. The helplessness I felt seeing my baby leave in the ambulance being taken away is one I will never forget. I can tell you the exact events of that night as if it were yesterday. Two weeks later she was diagnosed with MMA Mut O. During that time she may have had a seizure, was in a comatose state and also received a blood transfusion. She had a NG tube which she came home with but only needed for 1 day. I remember going to the library to try and find any info on MMA and found nothing, although that was before internet.

When she was a child we struggled with her eating and using more calories than she was taking in. We had her in a small private school to try and protect her from germs. She has had some hospital stays lasting 2-3 days and 1 or 2 that lasted 4-5 days. She has ADHD that we treat with Concerta and anxiety that we treat with Lexapro. Most of her anxiety comes from hospital stays and blood draws. She also takes 6ml of Carnitor (generic) 3x’s a day and I give her a multi-vitamin. She is a Junior in public High School in a LD class. After puberty she became an excellent eater and I cannot keep enough food in the house. Her most recent labs showed she needs more protein. Many days she craves protein and I am teaching her to choose her protein wisely. She also takes 2 oz of Propimex-2 a day that we mix with oatmeal. She gets to skip her Propimex one day a week. She tries to snack every 2 hours because when she gets to hungry she doesn’t feel good. With all of our devotion to Stephanie, we were not sure about another child. But Stephanie wanted a brother or sister.

Her brother Luke was born a beautiful healthy 8lb baby. I had a very healthy pregnancy. Our genetic doctors informed us of genetic testing but did not push the subject which I really appreciate. After Luke was born the nurses were watching his ketones and did lab work that indicated he did have MMA Mut O. I have to say Luke’s care was somewhat easier because we were more prepared and experienced. He strived faster and he never had to get really sick before we knew how to care for him.
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He is on about 2 oz. of Propimex-2 a day that he eats mixed with French Onion chip dip. We dip his favorite cheese chips and he likes it. He knows he needs it and does not resist. He also takes 6 ml of Carnitor (generic) 3x’s a day and also a multi-vitamin. We have had some trouble just recently with his growing. His recent labs showed he needed more protein and that may be why he is not growing well.

He is starting 4th grade in a regular public school classroom. He has an IEP to cover his medical issues. I work close with the school nurse and she calls me almost daily to keep me updated with what viruses are going around. She even calls parents, who have a child from his class home sick and asks them to keep the child home an extra day. She is wonderful. He has had several hospital stays. Sometimes just a fever or ear infection will bring him in and sometimes he has been quite sick and was able to get better at home. He does very well in school and is very intelligent.

Everything we do as a family is done at a slower pace. When we vacation we take many breaks for snacks and to rest and try not to overdo things. In September Stephanie will be granted her Make A Wish, which was to go to California. We will visit Disney, Universal Studios, Sea World the beach and go horse back riding. Though I am nervous about it I will remind myself to take a deep breath and enjoy it.
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Someone once said to me, I don’t know how you do it. It must be so hard. I told her it is all I know and it becomes a lifestyle. We are thankful for the blessings in our life.

Dan & Lori
McHenry, Illinois

From the Fall 2010 OAA Newsletter