« Monthly Newsletter: Month Three | Main | Roll Over! Roll Over! »
October 20, 2005
The Day The World Fell Apart
Wednesday was the follow-up with the geneticist, who took blood from Dashiell last month for testing.
Sadly, it's bad news. Dashiell has what is known as Cri du Chat Syndrome ("Cat's Cry"). It's an extremely rare genetic disorder (1 in 15,000 - 1 in 50,000) caused by a partial deletion of the 5th chromosome. For a breakdown of what the disorder is, this page has some info:
http://www.criduchat.asn.au/criduchat/what.htm#Cri%20du%20Chat%20Syndrome.
Dashiell has some, but not all of the symptoms of this syndrome. He doesn't have the most characteristic one, the cry that sounds like a cat. The geneticist did say that his cry is more highpitched than most babies. Of the other symptoms that he does have, smaller head, slow weightgain, wider spacing between the eyes, he has mild versions thereof. However, we really have no idea how severely or mildly this disorder is going to affect him.
Some of the major things that happen with this syndrome can be severe retardation, mental and physical. Low muscletone occurs often, problems with language etc.
So that doctor's visit was a nice kick to the guts. In a way it didn't entirely surprise me. As I read on someone's website, a parent with a CdCS child, I kind of knew something was off at birth. He just looked different to other babies. However, even though I'd already had some inkling that something might be wrong, the news is still devastating.
While I was with the geneticist I also spoke to a social worker. She'll be contacting the New York State Department of Health and they then will get in touch with us. NY State has a program called Early Intervention which is for kids from birth until 3 years old who have physical and mental developmental problems (it's a free programme, or for a nominal fee if you earn a certain amount, apparantly). Based on Dashiell's diagnosis, he'll automatically be included in their programme. The programme offers all kinds of support as well as physical, speech and occupational therapy. The reasoning behind it being that these therapies will help him reach his full potential.
PreZ and I will both be getting our blood drawn for genetic testing too. Most of the time CdCS occurs as a random incident, but in some cases it's due to Chromosomal Translocation (http://en.wikipedia.org/wiki/Translocation), knowing which one it is will be helpful if we decide to have other children.
Other than that, we have no idea what's in store for us. We won't know how Dashiell is affected, and we'll just have to monitor his progress with the usual developmental milestones as a marker. I think this is the hardest part for me so far, just not knowing and having to wait and see what happens with him.
There's a sick irony in the fact that this month my cat died, and then Dashiell was diagnosed with "Cat's Cry" syndrome.
Posted on 02:21 AM to: Cri du Chat , Dashiell
Comments
Hi Marieke and Prez. My names Louise and I post on Goth.Net as Morbid Soulshine. I have been following this site since before Dashiell was born and was hoping that I could offer some positive words at this difficult time.
I have a daughter called Charlotte who will be 6 next month. In June of last year she was diagnosed with autism. She is in a mainstream school and is doing ok so far. Anyway I have read and researched a fairly large amount on autism and the one thing I know is that any kind of Early Intervention is an absolute gift. Unfortunately Charlotte wasn't dignosed until she was 4 1/2. But her school are great and we are doing everything we can to ensure she is coping and is happy. You should definitely try and make a positive out of the fact that you found out so early while he is still a baby. This will give you plenty of time to prepare yourselves. Us on the other hand had to learn about Charlotte's condition while taking care of her and trying to meet her needs.
I have a book called "The boy who loved windows" It is an extremely positive real life story of a mother (Patricia Stacey - the author) who realises that there is something not right with her baby and suspects he might be autistic. Anyway they intervene from 6 months old and by five he is given a clean bill of health. I understand that Dashiell's condition is different because it is genetic but it is worth reading this book because it focuses on how much can be done when you intervene from early on.
Sorry for this long winded comment. Please take care. I wish you and your family all the best.
Posted by: Louise at October 20, 2005 05:13 AM
Thoughts with you both....
Posted by: WauloK at October 21, 2005 09:25 PM