Sarah

This is my daughter, Sarah. She just turned twenty years old. She was born with a rare genetic disorder called Infantile Refsum Disease. It's a metabolic thing, a peroxisomal biogenesis disorder if you want big words, LOL. At one time it was called phytanic acid storage disease. She is deafblind and has had a stroke and seizures and is mentally retarded.

To look at her you would never think about her disease. She is so happy and full of laughter and life. I hardly think about it either unless I'm dolling out the medicine or get a rude awakening when she has a seizure or something. We just live our day to day lives and don't worry about the future too much.

Let me get serious for a moment. This is a devastating disease. Most children don't survive to adulthood. In all the years that Sarah has lived with this disease, the prognosis has not changed. Second decade. Sometimes I just stare at those words and wonder about Sarah's future. "IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond." So some children will survive into their teens and twenties, and possibly even beyond. It has a much bigger impact when you apply it to your child, and your child is in the second decade of life. Or how about this one, "the prognosis for individuals with IRD is poor; death generally occurs in the second decade of life." How can this even apply to my wonderful child?

For years I was a member of an email list for children like Sarah. Initially is was a very small group with about four or five families. (This is a very rare condition.) Over the years as more was known about these disorders we gained more members. As time went by patterns developed. Sad patterns. A family with an infant/toddler would join the list. They would be all excited to meet other families and to find out more information. As time went on the child would start to lose skills, slowly. After a while they would no longer walk or crawl, or talk, or eat. Like a light growing dimmer and dimmer. Then they die. After seeing this heartbreaking scenario play out over and over and knowing what was going to happen to the children, I left the email list. I couldn't bear to watch it anymore.

So now Sarah and I just get on with life and do our thing. Nothing I read about is going to change her life. I could take her to do all kinds of labs and things and find out that it was this branch of that gene that did something or other to cause this, but is that going to make a difference to her? No. We did participate in the studies at the Kennedy Krieger Institute at Johns Hopkins in Baltimore, when she was first diagnosed. I gave her the DHA and had blood drawn at regular intervals. I hope that helped in the research that they were doing for kids like Sarah in the future.

My goal for Sarah is that she live a happy life doing things that she enjoys and that she can participate in activities where she can feel successful. It isn't a lot to ask. Is it?