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MMA, Mut 0

Eric Daniel was born September 20, 1988 in Chambersburg, PA. Just another boy who entered the world that day, but he was special, and going to be special in many different ways.

I was not going to have any children, possibly adopt I thought, but decided in my late twenties to have a baby. I was sooo excited getting the nursery ready, taking childbirth classes, living, eating and breathing, taking perfect care of my unborn child. No alcohol, plenty of rest, proper diet, I did not smoke and prayed every night for a healthy baby. The first red flag came when I had my last prenatal check up and the doctor said I need to prepare for a c-section….I said “C-Section!”?? You must be kidding; I have been practicing my breathing every week! I can look back now and laugh at how traumatic I thought that would be! I sat in the table and cried, but started to look forward to knowing exactly when I would give birth. I never dreamed I would plan it down to the minute.

The surgery went well, and at 8:00 PM, a 9-3/4 oz baby boy arrived with all of his fingers, toes and looked absolutely beautiful! I thought my prayers had been answered! I had no idea that was the beginning of a long road ahead…..

Eric got sick almost immediately, but it wasn’t the hospital that even noticed. We saw him taking in a very little formula or mild, it seemed to be all running down his chin. We called for a doctor and he was put on an IV in the hospital a week after I went home. They sent him home thinking he was stable, but the poor feeding continued and development was very slow. Eric would spit-up once in awhile and cry once in awhile, but I thought he was a ‘good baby’. When I went to the pediatrician, he told me to try some other formulas that some babies just didn’t feed well, and it would maybe take some time to find a formula that would work for him. At 10 months of age, and all nutrition options were exhausted, the doctor ordered some blood and urine tests. He called us back and told us Johns Hopkins would be giving us a call because the results were a little far off from his experience.

I suddenly got very scared, and patiently waited by the phone and when he called, I will never forget those words “Mrs., Coldsmith, we do not want you to get into an automobile accident, but we want you to pack you and your baby’s bags and get to the hospital as soon as possible!” We did just that! We spent 3 hours in the middle of the night talking to the doctors about some ‘acid’ thing that they knew a lot about, but didn’t have all the answers for. They told us that special formula that was available, pending all the tests results. But what was the most devastating to me was the possible damage this high acid level can do to the brain and kidneys. If only someone would have thought of testing earlier! It was all coming together now; I had been feeding Eric everything he couldn’t metabolize! I suddenly became ill and wished I would have visited more doctors and pushed to have something checked. He was taking enough in to maintain, but not to flourish; therefore, he never got into crisis mode. This is why he was so difficult to diagnose. We stayed at Hopkins for three weeks, and soon after Eric was put on his ‘special formula’. I walked into the room and saw him actually sitting up in the crib! I didn’t have to tell you how happy I was at that moment! After all the testing, he was actually diagnosed with “Methylmalonic Acidemia, Mut 0”.

The years that followed were most difficult. All milestones were missed, of course, and some would never be obtained. We stated occupational and speech therapy immediately to try to catch up, but really never got too far. Soon Eric stated pre-school and went into special education. He is now 17 years ‘young’ and in the life skills class at the senior high in Shippensburg, PA, and only functions at a 1st grade level academically. However, it is still hard for Eric to understand why he is in the class he is in sometimes. He wants to be like the other ‘cool boys’ doing what they do, and going where they do, but they are all busy with their own lives, so Eric doesn’t hand with a lot of friends. He was hospitalized a lot through those early years. Viruses, pneumonias, even common colds got the best of him. He had a hernia surgery as an infant and later on, a cataract implant. He also developed dystonia in both feet, which required three surgeries to straighten them and was also found to have “Legg-Perthes” disease, which required still another surgery to mend his hip. Needless to say, we knew the hospital very well, that is probably why Eric is till hooked on videos. Behavior issues also became apparent. It became so bad; he had to be admitted to the psychiatric ward for an evaluation. He has been diagnosed with anger problems and pervasive development disorder (PDD). He takes a small dosage of medications for that along with his MMA medications. We still follow-up with counseling. So depending on Eric’s mood swings and how he is feeling, there are good days and there are bad days! Through it all, Eric is fairly stable now, and I would say ‘slowly maturing’ enough to understand why he will never have a driver’s license, but can run his own go-cart. Because of his mental retardation, he doesn’t understand the severity of his disease and would not eat a low protein diet and take care of himself if not watched very carefully. Thus, there has been a lot of ‘food fights’ over the years and it makes if difficult for him to go anywhere. I do keep him involved in swimming and moderate exercise, but also must see that his fluids are kept replenished from his slowly progressive kidney disease. He is on the Special Olympics swim team and does very well.

We still doctor at Johns Hopkins and visited Dr. Venditti once at the NIH last year. As you all know, there is no prognosis for this disease and no ‘cure’, only maintenance so ‘everyday is a gift’! There is not a day that goes by that I don’t worry for my son, but we try to live as normal a life as possible and I think positively. I could always be worse….Eric’s creatinine is my guide.

But today is a ‘good day’. Eric is well and is home. As for me, I have resolved myself into providing the very best care I can for Eric, to live as long and healthy life as possible. I continue to pray for him just as I did before he was born. We will continue to hope that Dr. Venditti will not only help the unborn and the newborns, but also find something that will help the lives of all the others.

I look forward to chatting with you all on the OAA listserv from time to time. It is nice to know that I am not alone.

Very sincerely yours,

Mom 4ever to Eric
Methylmalonic Acidemia, with renal failure, PDD
Shippensburg, PA

From the Summer 2006 OAA Newsletter

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