In 1982, Nick Lovrin and his mother and father flew from California to Indiana to attend the very first MSUD Symposium. Nick was only 3 years old, and I remember him as a cute pleasant, healthy-looking, little boy. He is now a young man, still living in California. His mother, Karen Silva, wrote this history. Nick has contributed his own story under the Sharing section on the next page. Nick had his 21st birthday since these articles were submitted for this issue of the Newsletter.
It's been a very long, rough road, but we made it. On May 3, 2000, Nick will be 21 years of age. I haven't written about him since he was very young. Nick does not have classic, intermittent or intermediate MSUD. He has a variant type all his own and has made medical history. The amount of protein he can tolerate is minimal, like in classic MSUD, yet he displays the clinical symptoms of the intermittent type.
He wasn't diagnosed until he was almost 11 months old. After six weeks in the hospital for diagnosis, diet control, and physical therapy he was released to parents who were quite unsure of what life would hold for them and their baby. It was scary. We had entered a world which we had never thought much about.
We were home just two weeks when Nick became ill again. He was hospitalized for several days until his fever came down. So it went for the next five years - so many hospitalizations we lost count. Nick, on several occasions, had hallucinations, convulsions and lapsed into a coma. I remember him vomiting blood once. I always stayed with him night and day, leaving only for short walks to stretch my legs.
I realized early on that the local doctors and nurses really didn't know how to handle this very rare disease, and I had to become the onsite expert. Oh, they did their job, administering medicine and IVs, but beside that, they really didn't know what to do.
Several times serious mistakes were made by doctors and nurses. It's scary when you can tell the doctor is panicking. Once a doctor became angry because I called another physician for a second opinion. I told him he didn't get my trust simply because he was a doctor; he had to earn it.
We live 150 miles from the University of California, San Francisco (UCSF) where Nick's metabolic specialist practices, but we couldn't always get there. Most of the time Nick needed immediate care, and it was easier to handle the hospitalization locally.
Nick was sick often when he was little, even when we were on vacation. We went to Minnesota for a week and spent half of it in the hospital there. Nick had caught a flu bug. The staff was great though and made it easy for us to be there. Since then, we've handled most illnesses at home with only a few hospitalizations. Nick drinks apple juice when he is sick and I think it is a major factor in his avoiding hospitalization in the last 6 years. When he was small we used Pedialyte, but as Nick got older, he didn't like the taste of it.
At 5 years of age, Nick went off to kindergarten. While other mothers cried because their babies were leaving home, I celebrated because my son had made it that far.
Nick graduated from high school and attends the local junior college. He also works part time in a department store. In some ways Nick is like the average person. He could walk by you on the street, and he would just blend in with everyone else. Yet if you took the time to look further, you would see the frustration he deals with daily.
Don't get me wrong, you would also see a wonderful, compassionate person. Nick doesn't share his feelings with many people, and it isn't easy for him to talk even to me about how he feels. He sees other people understanding situations and gets frustrated, because he doesn't comprehend what is going on. He wonders why he can't do the things others his age can.
This disease and the limitations that come with it are not too difficult to accept as a child.But as Nick enters adulthood, he understands more fully the limitations MSUD places on his life. He doesn't let many people get close to him. He doesn't like to let them know about MSUD. I think that when he is more comfortable with the disease he will be happier and let more people get close.
Nick doesn't like eating when he is not necessarily hungry and doesn't like going to bed early just to make sure he gets plenty of rest. He doesn't like the headaches or the constant tiredness. Most of all he doesn't like his Mom constantly reminding him of all these things.
In many ways, we are lucky that we live in California. While Nick was growing up he always had private medical insurance.He will no longer have private insurance when he quits school. Along with this, he had California Children's Services (CCS) which acted as his secondary insurance plan. He will no longer have CCS after he turns 21.
Luckily, California has a plan called the Genetically Handicapped Persons Plan (GHPP), and we have begun the necessary paper work to apply for it. Unfortunately, it does not cover anything unrelated to MSUD, such as dental work, vision problems or injuries like a broken bone. We have also started the process of applying for Social Security for Nick. I don't feel he is going to be able to work full time and earn enough to support himself.
This lack of medical coverage greatly concerns me. If he does qualify for Social Security, he will also be able to get Medi-Cal. We are currently checking into some counseling to help Nick in the transition from a child with MSUD to an adult with MSUD.
I have many things to be thankful for. Having a child with a medical problem makes us so much more aware of our immortality. It has helped me to see that there may not be a tomorrow. Be the person and parent you want to be now. Don't wait. I pray a lot. When things are out of our control, all we have left is faith.That keeps me going. Until the next time . . . .
- Karen Silva