Friday, September 03, 2010

Second Hit

It is without a doubt one of the best decisions we made - to go to the WSA convention this past summer. That decision led to us sitting in on one of Dr. Morris' lectures on the ABCs of WS and where kids should fall in their development. Brady has always been behind the WS kids his age and we just assumed he was on the other end of the spectrum. But when asked, Dr. Morris suggested we look into having the chromosomal micro array testing - where basically all chromosomes are looked at, not just chromosome 7 which is owned by WS.

That decision led to our appointment with Dr. Pober, WS geneticist expert extraordinaire, who examined the boy. She acknowledged his consistent progress, albeit slow; his good health, and our good attitudes. Then she ordered the tests.

Two weeks later, we have been hit.

The micro array showed Brady has a larger deletion than his WS counterparts, it extends beyond chromosome 7 and includes additional genes. There is also a second change in another location down by chromosome 11, where part of the chromosome is missing but no genes are missing. The typical deletion for WS is a loss of 26-28 genes. Brady's micro array showed he is missing an additional 75, a total of 100 genes missing.

More genes missing means there will be more interference with normal growth and development. Dr. Pober said she needs to research the genes missing since they didn't know how they contributed to a person, and they may not even be able to find out what each one does. The idea is to follow medically anything that they could help with, but that is about it.

For example, she did note that one particular gene they knew that was missing would put Brady at a higher risk of seizures. Seizures that went untreated would cause a person not to learn as well. While we have never witnessed Brady having a seizure, she is setting up a consult with a pediatric neurologist for a brain scan. The "autism 2" gene is also missing, but Dr. Pober discounted that he had autism. She felt it was more of an association that he didn't have that one particular gene.

The second tiny chain of missing chromosome was down by chromosome 11, where no genes were missing. She felt it was likely irrelevant and thought it was a more of a "fingerprint" of his DNA and wanted Tom and I to give bloodwork to see if it was hereditary. We will visit with Dr. Pober in about four to six weeks once they have done more research on the missing genes.

I am typing this watching Brady... he was sitting in the middle of the floor, pulled himself up independently, walked to me and peered over the table to see the computer monitor. Uninterested, he turned, walked into the living room to the coffee table, grabbed a couple Fruit Loops, climbed on top of the table, ate them, got off the table and walked back into the kitchen to check out the CD playing ("Almost Famous" soundtrack, incidentally, fabulous). I smile.

How far he has come... yet now I know for sure he is 100 genes less. So easy to slip into that black hole cycle... but how can I possibly, seeing his progress? Seeing his quirky smile, upon which I am reminded all the time it took 14 months to get, yet is here all day now? Just another deep breath, I am sure this is not the last of news I don't want to hear. But the news I do enjoy getting, I am reminded daily.

12 comments:

Noel said...

First off...sending my love and hugs to you guys! I am so proud of you for being so quick to find out what exactly is missing...me I am a slacker and have not followed through yet. Now you have inspired me to go ahead and see if I can even get the microaray test done here. HUGS and enjoy Brady because he is great just the way he is :)

Laura said...

Hugs to you....I'm here anytime you want to chat.

I'm so glad you saw Dr. Pober.

Brady is an amazing kiddo!

Angela said...

You're strength is amazing and it looks like that quality is hereditary!

Michelle said...

kerry....my friend... love love love... I am sure it's a second hit for you all over again... I am here...xoxoxo

Anna P said...

I can't even begin to grasp all the emotions you are going through right now, hugs to you my friend! xox

Tara said...

Kerry, I feel awful. I'm just now reading this.
I'm thinking of you and sending many hugs your way. I just love your family - and was so impressed with you and your hubby both. Brady is so incredibly lucky to have you as parents!

Joanne said...

Kerry,
As the mom of a 43 year old boy with varying challenges - and the grandma of a very spunky 3 year old (Sawyer)- I have weathered so many "tests". It is great that we can now test for so many things and hopefully repair weaknesses. However, sometimes "tests" just bring more concern and fears and questions. One thing tests should never do is construct barriers to what may be possible in the future. Brady is the same little guy he was before the tests were done. He will fail at some tasks but he will SUCCEED in oh so many more! Our children are amazing and will continue to baffle medical science with their determination to do what tests say they should not accomplish! God Bless!

The Septic Tank Blog said...

a heart warming blag from The Sewage Treatment Man

Anonymous said...

inspiring from The Sewage Treatment Man

Erick said...

You're strength is amazing and it looks like that quality is hereditary!

self hypnosis

Grzegorz Laskowski said...

Masz piękny uśmiech, Kerry!

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