The Answer

A few weeks after Dylan came home we visited the Institute of Basic Research (IBR) and met with a very nice Geneticist and Genetics Counselor. They were incredibly professional and compassionate and listened to all of our concerns and tried to answer our many questions as best as they could. They asked for an entire biological family history from my wife and I. They asked for any history of genetic disability in our families. I had a distant cousin with Aspergers' Syndrome and Melissa had an aunt who had mysteriously died at 3 years of age in the late 1940's (more on this relative in a future post).

They took Dylan's blood as well as our own. They were going to perform a Fluorescence In Situ Hybridization exam (abbreviated as FISH test). They were going to examine his chromosomal structure to see if there were any possible defects.

It would take quite few days before we got an answer as to what could be wrong with Dylan. In the meanwhile, my entire family was busy looking online for a possible answer. Nothing that we found really matched what Dylan had.

There were some close ones like DiGeorge Syndrome which held out a possibility of a semi-normal life and then there were others like Spinal Muscular Atrophy (SMA) which would have led to a horrible death within a few years. When I read up on SMA, there were some similarities to what Dylan had and the thought of that happening to him terrified me. I broke down and cried for a few minutes after I finished reading about SMA. Thankfully I was alone when that happened.

About ten days after they took our blood IBR called us to come back in. I remember sitting there happy to know that we were finally going to get an answer to this mystery. Then the Genetics Counselor and Geneticist walked in and right away I knew it was not going to be good news.

They were trying to be stoic and professional, but they were human beings and they couldn't keep from having such looks of pity for us on their faces.

They told us he had Emanuel Syndrome. Obviously neither Melissa nor I had ever heard of it. In all the dozens of hours of online research, I had never come across any mention of Emanuel Syndrome (otherwise known as a 22q11 partial translocation). They told us that genetically his 11th strand of his 22nd chromosome had been damaged and parts of it had broken off to form a 47th chromosome.

They told us his outlook was bleak, he would in all likely hood never walk or talk. He would be classified as either severely or profoundly mentally retarded. I found out later that this would put his possible maximum IQ at 34. He showed us a rare syndromes textbook that had some information on Emanuel Syndrome including photographs. Unfortunately, the description of the syndrome mirrored much of what Dylan had. This fit what he had much more than anything else that I had found online.

The child pictured had some definite facial similarities to Dylan. The adult pictured there looked horrible. Was the geneticist telling me that my son would look like that when her grew up?

I was sitting there with a blank look on my face. My wife had tears in her eyes. What they were telling us was simply not sinking in for me. This couldn't possibly be happening to me, to us, to my family.

I asked them if there were any other Emanuel Syndrome kids who had surpassed the diagnosis, who could walk and talk?

The Geneticist told us no, from all of his research all of them were severely or profoundly disabled. I then sat there in stunned silence.

He then told us that Emanuel Syndrome was inherited from a parent.

Either mine or Melissa's DNA had done this to Dylan. Which of us was it....