John Jr.
This is a personal story shared by a family whose child has Methylmalonic Aciduria (MMA).

Our first and only son, Johnny, was born on January 20, 2000 after a normal pregnancy and delivery. However, the night of his birth, he was slow to nurse and was panting at the effort. His billirubin was elevated so he was placed under the lights and given formula. We expected no complications and simply waited for him to bounce back. He only got worse. He was breathing rapidly, his tiny chest was caving in with every breath. No one could explain why, maybe dehydration. We started to worry. He was moved to the NICU where "they could take better care of him." Five days later after watching him struggle in the NICU, it was discovered he had a metabolic disorder, MMA (Methylmalonic Acidemia). He was transported to the Children's Hospital in Philadelphia for treatment by a wonderful team of specialists.

Thanks to the newborn screening, our son is not only alive, but also has a chance to have a normal life. Every feed, every day is given with the help of a G-tube with small amounts of food taken normally. No doubt this is a serious disease. But, without the newborn screening, there is a very good chance that our son would have suffered metabolic decomposition, which usually results in some type of permanent brain damage, or even death. We are eternally grateful that our hospital conducted the supplementary newborn screening, even though our state does not mandate. Had our son been born at another hospital just a few miles away, the outcome would have been tragically different. Here he is at one year old, with his Mom. 

To think of the special care and expenses that parents and insurance agencies have to endure as a result of the complications that occur due to undetected inborn errors of metabolism, like MMA, not to mention the pain and suffering of the children, is unimaginable. Much of today's world is driven by costs/profit, however, it's our obligation to prove to those in power that the expenses up front can never compare to the expense of caring for undetected cases where irreparable damage has already taken its toll. 

Visit Johnny's website.

Sincerely, 
John & Lourdes Tate
Written March 2002 by John & Lourdes Tate
Parents of John Jr. MMA 

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