Family Stories;
Christopher Anderson

Methlymalonic Acidemia, mut 0, Age 2 1/2

Christopher Patrick was born on February 18, 1998. His delivery went well and he was considered healthy on his first day, he ate well. On the second day he didn't seem to have an appetite and "spit up" a lot, but was sent home. Since he had a circumcision before he left the hospital, we were told to expect him to have a deep sleep for several hours. He did sleep well that day, we told. However, through the night he would not wake up to eat. At 4AM after several attempts to feed, I called a nurse on the "well baby" unit. I told her that he would not eat, had lost his sucking reflex, was groggy and his eyes were rolling back somewhat. While on the phone, my husband, Brett yelled to me that Christopher had stopped breathing! I ran to the bedroom, shook him and pressed on his chest. He started breathing again, but it was labored. We rushed to Wilford Hall Medical Center .

The nurse examined Christopher carefully. At that point, he was flaccid and unresponsive. The doctors were called in and ran labs. After running labs twice, to verify that indeed his ammonia level was in the 1200's. (normal range is 50 to 100) and rushed him to the NICU.

Christopher was put on a ventilator, and had several catheters placed. There were so many healthcare workers around our little baby, that we could not even see him. And being a registered nurse myself, I didn't want to see what Christopher would endure. Though it seems strange, now, Brett and I returned home, feeling very helpless.

While at home, Dr. Heiman (the neonatologist) called and said they had an idea of Christopher's diagnosis of Methylmalonic Acidemia (MMA). He wanted to try an experimental procedure —– hemodialysis. Brett, my mother and I went back to the hospital after praying that the dialysis would work.

Dr. Heiman and Dr. McLean (the geneticist) explained the speculated diagnosis of MMA. Since Christopher's ammonia level was in the 1600's at that time, it was thought that his chances were slim—but hoping for recover and minimal brain damage, they started the procedure quickly.

At the start of the hemodialysis Christopher's ammonia level maxed to about 2400. By the end of that day, the ammonia dropped and hovered at about 800.

The next morning, his level still had not changed. Throughout the day the level gradually dropped into the 200's. Thankfully! His hemodialysis was then stopped. Though he had experienced seven seizures when his ammonia levels were high, they did not reoccur.

In the days following, Christopher managed to wean himself off the ventilator and become stable. It took several days for him to open his eyes and a week for him to cry, but what a joyous sound that was!

After 6-1/2 weeks in the NICU, he reached his birthweight of 7 lbs. and 11 oz. He had an outpatient blood transfusion and weekly follow-ups, but was doing well. He had Phenobarbital, B12 shots and Carnitine for meds. His formula was a mix of Similac, Propimix-1 and Prophree.

Everything went well. However the metabolic specialist at Santa Rosa Hospital who oversaw his care were not optimistic that his immune system would handle even his first cold. Waiting to see how Christopher would do being sick was very difficult. I wanted to treasure every day with Christopher, yet protect myself from being hurt if he did not make it. Thankfully, he made it through his first cold easily and several since.

Over the last 2-1/2 years, Christopher had a g-tube placed and has been hospitalized about 12 times with various minor illnesses. Having IV fluids with bicarb added, and IV Carnitine, he does very well bounding back to health.

He now takes Carnitine (16cc daily) and Zyrtec and Flonase for allergies. His formula is a mix of Propimix-1, Prophree and ProVimin. Since he had testing to show he has type mut0 of MMA, he B12 shots were discontinued, as was the Phenobarbital.

We are so thankful to the staff at Wilford Hall and Santa Rose Hospital . Dr. Heiman and Dr. McLean have earned a reward for the first hemodialysis of an MMA patient recorded in the medical journals.

Since this is the first time I have written Christopher's story for OAA, I will just briefly mention his progress since his initial diagnosis.

Christopher raised his head at 4 months, crawled at 1 year,

and has just begun walking. We are so excited! He has speech, occupational and physical therapy.

Though he does not talk, Christopher is very social and expressive. He is an affectionate and loving child. He loves to hug, clap, give high-fives and climb everything. Christopher's relaxed personality goes well with his younger sister's spunky personality.

Katie, who is now 1-1/2 years old, has been diagnosed as "healthy". It is amazing to see how accepting they are of one another, just as they are.

We would like to thank OAA for such valuable information and support from other families. We welcome hearing from other families with metabolic disorders, who face similar challenges.

Our phone and email sites are as follows:

Our prayers are with all families of children with metabolic disorders. May God bless you and take care.