BEYOND THE DIAGNOSIS

An original version of this essay was written by Ian's mother Mary and published on this website in August 1998. Two years later it was discovered by two people, Dr Stanley Klein and Kim Schive, who were in the process of compiling and editing a book of just such essays - the personal stories of parents of children with disabilities. They wrote to Mary asking her permission to include it in their planned book. She readily agreed and then rewrote the original for publication.

The following is as appears in the book:

You Will Dream New Dreams
Edited by Stanley Klein PhD and Kim Schive
Kensington Publishing Company, New York City
First printing: April 2001
http://www.kensingtonbooks.com

BEYOND THE DIAGNOSIS

Our son Ian was born in March 1993. He was a full-term baby born with no complications. His pediatrician did note that Ian had some vague physical characteristics sometimes associated with genetic abnormalities; she also mentioned the possibility that he might have some learning difficulties. But since everything else seemed to be pretty normal, we easily dismissed the foreshadowing of tthe doctor's words.

When Ian was four months old, he had an intercranial bleed resulting from a shortage of vitamin K in his sytem. Thanks to the skills of some wonderful doctors the blood clot in Ian's brain was removed with what we believed was a minimum of brain damage. He left the hospital about two weeks later. The doctors had been unable to determine why he had been depleted of vitamin K and all the other fat-soluble vitamins. Still, they expressed guarded optimism that with careful monitoring, he would be fine.

But when Ian was a year old, a metabolic specialist at Oregon Health Sciences University diagnosed him with infantile Refsum's disease (IRD), " a peroxisomal disorder that results in hearing and visual abnormalities, as well as low myelination of the brain." At that time Ian was not yet crawling, and a hearing test showed a moderate hearing loss in one ear. Within a six-month period, his hearing loss plunged to the severe level - a ninety-decibel loss in both ears.

IRD is considered a fatal disease, but since it is a relatively "new" disease - first diagnosed only about twenty-five years ago - the life expectancy of affected individuals is open to debate.

If the objective reality of having a child dignosed with a rare, incurable disease is profound, the subjective reality is overwhelming.

For starters, the time we spent waiting for test results was hellish. The doctors didn't exactly tell us what they were testing for; they used terms I didn't understand. I didn't know if they were going to tell me my son would be dead within a few weeks or perfectly normal.

Suddenly my life anxiously revolved around waiting for phone calls, consulting with specialists, and getting the much-dreaded test results. I remember feeling a great deal of animosity - which, even at the time, I knew to be irrational - toward "the doctors."

We've dealt with many wonderful doctors during the past six years, but at the  time of Ian's diagnosis, I could see them only as the enemy. First "they" - the doctors, the enemy - told me my son would be blind or was already blind. Then "they" told me my son would be deaf or was already deaf. Finally "they" told me my son would die. I felt as though "they" were systematically
stripping pieces of my son away from me.

Living with the diagnosis of IRD means learning everything we can about Ian's rare and remarkable illness. Try looking up "peroxisome" in the average dictionary; the closest thing you'll find is "hydrogen peroxide." After Ian's diagnosis, we pored over medical journals and searched the Internet in an attempt to demystify our son's prognosis.

Living with the diagnosis of IRD means discovering the world of the  congenitally deafblind. Helen Keller, right? But where does one find an Annie Sullivan? Who will teach my child?

Living with the diagnosis if IRD means searching and advocating for an appropriate educational placement - interviewing school districts, pre-school programs, and teachers, sifting until you find the gems. We discovered early intervention, went to IEP (Individualized Education Program) meetings, learned the meaning of IDEA (Individuals with Disabilities Education Act) and lots of other acronyms.

It seems as though when you are handed a child with a rare disease, the rest of your life should fall into place; the little things shouldn't matter so much. Well, let me dispel that thought right now. Relationships go right on being relationships - with all the good days and all the bad ones. Money is still tight; days are still too short; the Cubs are never going to win the pennant but are always going to try.

Living with the diagnosis of IRD is not the same as living with Ian.

Living with Ian means waking up every morning to the sound of a child singing even though he hears very little. Living with Ian is watching his face light up when he puts his fingers in my mouth to verify through touch that I am his mom and receiving his very wet open-mouth kisses. My child is not a label, not a diagnosis. He's just sweet, happy little Ian.

I am not thinking about IRD when Ian is sitting in my lap, giggling over our turn-taking games. I am not thinking about
educational politics when we are roughhousing in the living room. Ian is a child first and foremost. He needs what all children need - love, security, and encouragement.

That is the reality of our lives. In the years since Ian's birth, I've changed, some for the better, some for the worse. I know more about some things than I ever wanted to know, but I also know more about love - the love I feel for Ian and the love that he shows me.

Mary Stephens

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Created 8/8/98; updated 09 July 2001