Saturday, January 29, 2011

It Runs In the Family--Part I

On Nov 19, 2010, my oldest daughter Emma (11.5) was diagnosed with a rare eye disorder called Macular Dystrophy.  On Dec 22nd, the retinal specialist informed me that he thought what Emma had was a rare, recessive genetic disorder.

"She has four younger siblings.  What are the odds that one of them has this?" I remember asking.

"Zero.  Nil.  She's the only one."

"Lucky me," Emma grumbled tearfully.

But I took enough biology in high school and college to know that that's not how this works.  Each child gets a 25% chance of having the disease.  Every one.  So I gathered up my courage and set doctor's appointments for Anson (10), Nathan (8.5) and Annika (4.8).  I left Beck home, because he's three and that seemed reason enough.

Dr. Lloyd (my friend Mike, from high school) seemed happy to see us.  He also has a 10, 8, and 4-year-old, so it was really fun for him to see my kids who are the same ages as his.

"Are you here because of Emma?" Mike wanted to know.

"Partly," I admitted.

I explained about Anson's squinting and other visual concerns, including, an eye doctor saying that he saw something in Nathan's eye a year and a half ago.

"OK," Mike said.  "Let's run a scan on him."  He went out of the treatment room and a few moments later came back in.   "You know what?" he ventured.  "If these were my kids, I'd want to scan them all."

"Great," I confirmed. "Let's scan them all."

Nathan's scan came up first.  The right eye was affected.  But so was the left.  Over the year and a half since the other doctor saw Nathan, his left retina had gotten a lot worse.

"This is like Emma's right eye," Dr. Lloyd explained.  "The difference is it's low in his field of vision so it doesn't bother him."

Anson's scan was next. Beautiful, flat retinas.  It looked almost concave compared to the pictures I had seen of Emma's eye recently.

Then Annika's scan.  It came on the screen.  Dr. Lloyd's shoulders slumped.  His hand came to his forehead momentarily.

"Do you see these?" he asked quietly.

"I do."

"I'm so sorry."

Both of Annika's retinas have fluid under them, too.  Three kids with the same rare disorder.  And we haven't even tested the baby yet.

3 comments:

Nicole said...

I am so so sorry! Thank goodness you had them all tested. Hopefully Beck's scan will be clear too.

Keryn said...

Oh, Jenna. That is so hard! I know that you will all have the strength to deal with this, but it's okay to take a little breather and grieve for a while. I think you and your family are wonderful. We'll be praying for you.

Emma said...

Jenna, I'm so, so sorry. I can't imagine the stress and worry you're experiencing right now. I'm thinking of you and your family and you're all in my prayers,