My Family's Greatest Gift

March 1, 2017

Like most families, we fill our calendar with all types of celebrations--birthdays, anniversaries, holidays. But the previous Children’s Memorial has given our family one more milestone to celebrate this year. On our calendar, December 11 will be celebrated as the day we began healing our children.

Last year, our youngest daughter, Celia, at 1-year-old, was falling behind in her milestones, falling off the weight chart, and slowing down in every aspect. For any parent this is terrifying, but for us, we feared the worst because we suspected where it was leading.

Our oldest child, Benjamin, has significant special needs. At 5-years-old, he was non-verbal and was unable to play, bathe, dress or eat without assistance. He developed a seizure disorder at 2 and had significant cognitive delays. His hypotonia and balance issues made it difficult for him to play for any period of time without getting fatigued or injured.

We had sought a diagnosis for Benjamin before we had subsequent children, but had never come close to an answer. We had MRIs, EEGs, and scores of blood tests, only to have them come out inconclusive. Right around his 3rd birthday, we stopped looking for a diagnosis and began focusing on treating Benjamin’s current issues. We then came to Children’s to seek the best treatment for his seizures. In no time, Dr. Sookyong Koh, from the Children’s Epilepsy Center, had Benjamin on the right combination of medication for seizure control.

Our second child, Mae, developed typically and we breathed a sigh of relief. It was a joy to have such a beautifully diverse family. And then our third child, Celia, was born. Around 6 months of age, it was apparent to us that she was lagging in her development. She seemed to be going down the same exact path as her brother. It was one of the most difficult times for our family. Raising one special-needs child was difficult enough, could we do it with two? How could this happen twice? Could we make it through this again?

Despite previous genetic testing that yielded no results, our pediatrician recommended taking both children in for an evaluation with another geneticist. We made an appointment to see Dr. Brad Angle and Katherine Kim in the Division of Genetics, Birth Defects and Metabolism on Nov. 6, 2009. We met with the doctor and the counselor and they did their examinations and ordered numerous tests. We were hopeful that they would find something so we could formulate a plan.

On November 18, we received a call from the genetic counselor. She said that one of the tests came back suggestive of a particular disorder. That moment is one of the most defining in my life. She uttered seemingly foreign words that would quickly become familiar to us: “Guanidinoacetate methyltransferase deficiency,” or GAMT deficiency for short. She went on to explain that it is a very rare genetic metabolic disorder--at the time, less than 100 diagnosed cases worldwide. This disorder, when left untreated, damages the brain and muscles. She also explained that there is a treatment regimen. The treatment has many facets and has led to many challenges for our family, but part of being a parent is blindly accepting the inconvenient and the burdensome, especially when it is for your children.

We began treatment on December 11, 2009. Benjamin was 5 and Celia was just 14-months-old. As we near the one year anniversary of that date, that family from a year ago is almost unrecognizable to me. The biggest changes are the clinical changes in the children. Benjamin has made significant gains in his physical abilities, his communication, and his cognition. And he has been seizure free for over a year. It is as if he has emerged from a fog. Celia shows little signs of the disorder. She no longer receives physical or occupational therapy. She is back on track developmentally. Her speech is slow to develop, but we are working on it daily and we are optimistic that she will find some way to communicate successfully. Having been able to arrest the damage earlier in Celia has been an advantage.

Though she is not cured necessarily, she is making incredible progress and we are hopeful. And while the scope of Benjamin’s recovery remains unclear, we are overjoyed to be able to help his body function more effectively and to maximize his true potential. We feel that although the disorder is rare and the cases are few, the limitations are few, as well.

A year ago, our family was lost. We looked to Children’s for help and answers. They gave us more than they could imagine. They gave us a name for our children’s disorder, they gave us a treatment, they gave us control, they gave us the opportunity to witness a miracle, and most of all, they gave us a support system that has lifted our family out of a darkness we were in a year ago.

On our calendar, December 11 has become a milestone celebration for us. Without a diagnosis, this disorder would have claimed the bodies and minds of two of our children. I don’t know if they know it, or if they will ever be able to understand, but the doctors and staff at Children’s have given us an invaluable gift of peace and hope.

Thank you to Dr. Koh, Dr. Angle, Katherine Kim and Heather Bausell.

Story submitted in November 2010.