Answers.

We have a diagnosis. Spencer has Say Barber Biesecker Young-Simpson type Ohdo Syndrome. His test results came back today and everyone was surprised they came back conclusive. While we can finally stop looking for a diagnosis, we're not really sure how to accept the news.

On paper, Spencer will be disabled for the rest of his life. He will always struggle in school and have either mental retardation or severe learning disabilities. He will always have motor problems. He will always have speech and eating problems. He will never go to college, marry, or give me grandchildren.

But that is on paper.

I refuse to accept what is written down as generalizations in research articles. They just found the gene. Most of the kids who have been lopped into having Ohdo will be excluded now. While Spencer is the poster child for Ohdo, he also defies the research. He is clearly smart. While we can't rule out any mental disabilities, he is clearly not severely mentally disabled. He has been in therapy since he was two days old and is thriving.

It's my hope that with more kids being excluded and genetically confirmed as having Ohdo, that the range of abilities will vary greatly and appear more optimistic. From the parents that I know who kids likely have Ohdo, their kids have problems but are still able to learn and communicate, whether it's verbal, computer generated, or signed. Even in our little community, the range of abilities vary.

And even if the generalizations are right, Spencer is an amazing person. I have no doubt he'll grow into an amazing man. All we can do is help him any way we can and to hope.

While this diagnosis is bittersweet, it's still an answer. We can stop looking for one. We are taking it as good news!