Wednesday, September 23, 2009

Diagnosis - disappointment

After almost a year and a half of doctor's appointments and blood tests they finally found something. Joe has been diagnosed with "a mosaic deletion of the 13th chromosome". It is a rare mutation on his DNA where part of the 13th chromosome is missing on some of his cells. This particular chromosomal abnormality puts him at risk for retinoblastoma (tumors in the eye). He will need his eyes checked regularly for the first 10-15years of his life. The risk for these tumors lessens as he gets older. We found this out over the phone a few weeks ago and were under the impression that this diagnosis was "it" - the answer that we had been looking for all this time. In the event of a tumor studies show that survival rates are very high when caught early. If you want more info on Joe's diagnosis please check out this link.
However when we went to our appointment at Riley with the genetic counselor she explained that this diagnosis does not actually explain Joe's dramatic delays. Because there is no family history of anything like this we believe Joe's to be a random occurrence and not something that one of us has passed on to him, therefore we have chosen not to get tested ourselves at this point. One more blood test is being done checking for Angelman's Syndrome. But after much discussion we think we are nearing the end of our search. If we wanted to continue it would be muscle biopsies and other more invasive procedures that we would be considering. All for what? At this point no matter what name is given to Joe's problems the course of treatment will most likely stay the same: more therapy. We do not feel that there would be much benefit to Joe if we continued pursuing a diagnosis.
This has been a roller coaster of a ride. There is so much uncertainty surrounding Joe's future. He has brought us so many joys and challenges already. We have no idea what to expect him to grow up to do or achieve. We don't know if he'll ever "catch up", or if I'll be changing his diapers for the rest of his life. There is such a broad spectrum of possibilities.
Joe is continuing to work hard during his therapy and making progress. He is showing more of an opinion about things which is a good thing (though I have to remind myself that when he's throwing a tantrum). Its becoming increasingly difficult communicating with Joe as he is still mostly non-verbal (though he does use a couple signs). Through all this we still remain hopeful that he will continue to progress. And whatever happens we know God will provide for Joe and for us. As always we covet your prayers concerning our special little guy.


5 comments:

Mandy said...

Thank you for sharing your journey with us all...one that at times can be hard to understand but your sense of hope and faith is obvious just as your love for Joe is also. Hang on in there mighty MUM!

Megan Paschal said...

I love Joe and I love you! Thankful to have you as we take parts of this journey together. Praying for you...

forgetfulone said...

He's a beautiful boy! I will keep you in my prayers. God knew what he was doing when He placed him in your hands.

therextras said...

I'm glad you are reading at 5m4sn - a very good support site. There are many bloggers with children with special needs.

You seem to have a good understanding of the usefulness of a diagnosis.
Best, Barbara

Janice (5 Minutes for Mom) said...

I am so sorry that you didn't get the clear answers you wanted. I can't imagine how agonizing this must all be for you!!!

I am glad to hear though that you are not letting "diagnosis" rule you and that you are focusing on the positives and therapy.

{{{HUGS}}}