Kristie Lee & Johnny

(3-MCC) 3-Methylcrotonyl-CoA Carboxylase Deficiency

This is an update on my children Kristie-Lee who is now 13 and Johnny who is now 8. Johnny was born September 20, 2000. He seemed to be a normal. We were told to make an appointment with a specialist at a Metabolic Clinic as soon as possible. We met with Dr. Paige Kaplan at Children’s Hospital of Philadelphia on Oct. 1, 2000. After 4 hours of testing and consultation, our son’s diagnosis was confirmed. We were told how fortunate we were that because of the advanced newborn screening tests this disorder was diagnosed early and if we followed a diet consisting of little or no protein, he could probably lead a normal life without any major complications. We were also asked to bring in our daughter, Kristie, to be tested to see if she was a carrier. On Oct. 23, we received the results of Kristie’s tests, she also tested positive for 3-MCC. This was quite a shock, as along with our son, Kristie has never showed any signs of illness, aside from the usual colds and flu.

I still didn’t understand it fully so I looked online where I found the OAA support group which I thought was great I learned a lot from there and also met a few families whose children also had 3-MCC. Since my last update in the OAA newsletter, my daughter has never needed to be hospitalized for her 3-MCC and Johnny had one problem when he was about 3 when he got a stomach virus and needed to be kept over night at the hospital for IV fluids. Today if he still gets sick it seems to wipe him out and he takes a little bit longer then his sister to feel back to himself, but never needed any more hospital time. Luckily my children have done excellent they are on no special meds, they don’t follow any certain diets eat what they want, and we follow up at Children’s Hospital with Dr. Kaplan about once a year.

The OAA website was a great site when I needed someone to talk to and to learn about their disorder.
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Kerri
Philadelphia, PA
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(Previous article written in the January 2001 OAA Newsletter)