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.

Circling



It was quite the week.  There was a death, a birth, and a wedding.  And I climbed a mountain. 

 

"Was there much color?" my grandmother asked me today.  I have been spending Tuesday afternoons with Grandma, who has just recently relocated from the mountains to the suburban hell that is Greece, NY.

 

"You could write a book about your time spent with Grandma," my dad said.  "You know what you could call it?"

"Tuesdays with Grandma?"

 

"Yes!"

 

He thinks he's very clever.

 

I told Grandma we arrived just a few days past peak color.

 

"You people think you have color around here, but it's not like the Adirondacks," she stated, bluntly.  "You people" is us "city folk."  According to Grandma, we drive too fast, talk too fast, use too much technology, and our grocery stores... well.  They are just obscene.  How is one supposed to make choices in a Wegmans?  And now our leaves are just not colorful enough.  I didn't have the heart to tell her we hadn't reached our "peak" yet.  (Admittedly, brightly colored leaves displayed dramatically on a looming mountain is visually more satisfying than the splash of color from the paltry woods behind her apartment building.)

 

All in all, Grandma is holding up well, disappointing fall foliage notwithstanding.

 

My friend Lydia and I headed north to hike Cascade Mountain, which is the "easiest" climb out of the 46 Adirondack high peaks.  Cascade was chosen because we both have a horrific fear of hiking down rocky mountains in the dark.  Also, Lydia is afraid of black bears.  She will probably refute this, but there was a brief moment where she was considering NOT bringing Snickers bars because they might attract black bears.  I may have to find someone else to hike Yellowstone with. 

 

We made it down with plenty of daylight to spare. 

 

Here is a conversation I heard on the way down the mountain:

 

"Look, when it gets to be 4:00, we'll turn around."

 

"Or maybe someone could just plan better next time."

 

This is why I don't go hiking with my husband.  Lydia would never talk to me that way.

 

We made it up and down in about 5 1/2 hours.  Some seven year olds made it up and down much faster than that; I know because they passed us, unapologetically. As did a black lab named Spike.   

 

Don't even get me started on the Boy Scouts.

 

The trail was crowded, rocky, and very muddy, but ultimately worth it for the view.  I'm a sucker for a good view. 

 

We also went shopping and sightseeing in Saratoga Springs, Lake George, and Lake Placid.  Rather, we ate in Lake Placid and ogled the Olympic sites that dominate the small village as we drove through.  I went into two different Eddie Bauer stores in the course of two days.  The insanity of it all.

 

 

View from atop Cascade Mountain:

 

 

 

View of Mt. Marcy, which is the only mountain I can definitively recognize. 

My bangs- blowing unceremoniously in the wind. 

It smells so unbelievably good there.  In the mountains, not in Eddie Bauer.

As per the death, the birth, and the wedding:

John's grandmother, "Nana,"  died at the age of 93.  We had a family graveside service Wednesday.  She was a sweet lady and, honestly, I can't believe she's gone.  We will be having a larger memorial service later this month.

My stepbrother got married in Colorado, where he lives.  I'm sorry to have missed the wedding.

John's little sister, Mary, had a baby girl just yesterday.  The circle of life! Seriously.  It's all circling like crazy around here. Soon, the kids will get off the bus and I will rush them off to dance class and piano lessons.  They'll probably all grow an inch just this evening.

Sigh.

Life's too fast. Go ahead and climb a mountain.  Preferably not on a holiday weekend.