Tuesday, October 30, 2012

22q11.2


When Ella was born, she had multiple defects that prompted genetic testing.  She had heart defects, kidney defects, skin tags, and funny, floppy ears.  The genetic test gave no indication there was any underlying problem.

Major advances in genetic testing have been made, apparently, in the past five years.  Her doctor sent her off to the lab again, where the technician failed to find a good vein in her right arm but found success in the left.  Ella screamed and pleaded and cried and a good time was had by all.  Therapy has helped everyone involved.

Last Wednesday, the doctor called to tell me Ella had a genetic anomaly:  Deletion 22q11.2 syndrome, also called Velocardiofacial syndrome or DiGeorge syndrome.  Velocardiofacial syndrome affects about 1 in 4000 babies.  (Comparatively: Downs syndrome affects about 1 in 800.)

The most common symptoms of Velocardiofacial syndrome include heart defects, cleft palate/ feeding problems, kidney problems, immune system abnormalities, small stature, characteristic facial features, learning disabilities, hypocalcemia, thyroid issues, oh the list goes on.  There are about 180 presentations of this syndrome.

No one wants to hear their kid has a syndrome.  Syndrome is such a negative term.  Nothing good ever came from a syndrome.

The doctor answered my questions the best she could and referred me to the geneticist.

“Will she always have learning problems?” I asked.

“She will always need support in school, yes.”  was the reply.  “And be careful what you read on the internet.  There’s a lot of scary information there, but not all of it will apply to Ella.  Wait until you talk to the geneticist before forming any conclusions.”

Naturally, as soon as I got off the phone, I spent the next two hours combing the internet.  And there were some scary things about the syndrome.  Increased chances of seizures, infection, and an increased chance of psychological diseases like schizophrenia in adulthood.

100% of people with VCF have learning disabilities.

I found foundations for VCF and even a celebrity, Cubs player Ryan Dempster, who has a daughter with DiGeorge.  Riley Dempster can’t swallow and spent the first 18 months of her life in the children’s hospital.
Ella, thankfully, has never had any feeding problems and her heart defects never required surgery.  We were lucky.

Ryan Dempster and his wife had a foundation that raised thousands of dollars for kids with DiGeorge.  I was filled with warm fuzzies reading about them.  Then, I clicked on a suspicious link.

Ryan Dempster and his wife are getting a divorce and Dempster is, perhaps not coincidentally, off to play for the Rangers!  What about their kids?  What about Riley?  What about their foundation?

I became depressed.  John came home to find me curled up on the couch reading survivors' testimonies about the holocaust.  This is a true story.

A week later, I’m still coming to terms with this diagnosis.  While I feel relieved to have an answer to the mystery that is Ella, I am of course sad that she will have to face these physical and psychological challenges for the rest of her life.  

No one wants their child to have a syndrome.  Yet, it is who she is.  It has always been who she is.  And I love who she is.

I will always love who she is.

6 comments:

Carey Jayne said...

Holly, I am so sorry, my sister went through something slightly similiar when her son was diagnosed with autism. Praying for you and hopefully you can now get the help and resources that Ella needs to succeed!

MGBR said...

Wishing I had some witty, wise, wonderful words to offer. All I can say is that Ella is a fantabulous kid and I feel lucky to know her...and her parents.

Jessica said...

Wish i could lighten the load of this news...(((hugs)))

Janet said...

I love you and I love Ella! She is a great kid and all who know her are blessed! You are a great mom and she is blessed to have you! There is a purpose in everything and I know that God will lead and guide you through this journey! He is faithful - even when our kids have syndromes! It's not always fun or easy - but if I know Ella, she will make it as fun as possible and you both will grow from all you learn and experience!
xoxoxo

Elizabeth said...

Ella is one in million however you look at it. I am sending you hugs through the ether and wishing you, Ella and all the fam, a lifetime of contentment.
Ex

Empty Refrigerator said...

Beautifully written....am so sorry you are going through this.