Friday, February 12, 2010

Welcome to Holland

When Maddie was born and problems started arising (there's no worry like the worry you feel for your child) I was thrown into a WHOLE new world.... doctor's, physical therapy, feeding therapy, occupational therapy, hospitals, counting calories, lab tests, ultrasounds, MRIs, EEG's (you get the point) For a first time mom it was all very overwhelming....

A friend posted this on her blog and when I read it... I had to read it again, This is what it's like!!!

Welcome to Holland
By: Emily Perl Kingsley

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo. David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy. But after you've been there for a while and you catch your breath, you look around... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But your friends are busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things... about Holland.

Holland isn't so bad, In fact, It's beautiful... stressful, but beautiful! We still don't know what Maddie's test results mean. My pediatrician is working on our insurance to approve a referral to meet with a geneticist at UC Davis. The geneticist there has been reviewing Maddie's medical file and thinks it's possible to get Maddie's medical funded for 'research'. The bloodwork for George and I would also be funded to see if the duplication was inherited. Maddie's micro array was $4500, so that would be a HUGE HUGE HUGE help if they would fund it!

I emailed and they were able to find another child with a similar duplication. They have 7400 members registered with them, 46 of them have duplications on the 5th chromosome, one of them is in the same segment as Maddie's. They have no one matching Maddie's more distal duplication. I have an email out to the little girls mom and can't wait to talk to her! Wow... our life feels like a soap opera at the moment!

Tuesday, February 9, 2010

Chromosomal Significance

What is the importance of a chromosome that has a duplicated segment? What happens if that same chromosome has two segments that have duplicated? These very questions have tormented me for the last 24 hrs. Dr. D. called saying Maddie’s chromosomal micro array results came back. I’d been waiting for the results… I started to get antsy last Thursday when they weren’t in yet. I think she could sense my anticipation because she just cut to the chase… “the results were abnormal” My heart started racing… It was beating so fast and so hard I felt it in my head. I was waiting for the punch…this is indicative of _______ syndrome…., but Dr. D wasn’t able to deliver a punch … she didn’t know what it meant. I was referred to another one of Maddie’s doctors, Dr. K, who’s more versed in the world of genetics. Unfortunately it was 4pm and I wasn’t able to get in touch with Dr K. I spent all night waiting for today, and it was a looooong night! Maddie was in an incredibly happy mood both last night and this morning... I needed her smiles. For anyone who hasn’t met her yet, her smiles make you forget about the world around you…. but still, after I got to work I psycho dialed Dr K to no avail. (She really should put her office hrs on the message machine). I did however receive a phone call from the neurologist (Yes, the one I fired.) For some reason he was copied on the lab results. He didn’t have any answers for me either… he referred me to a geneticist at Stanford. I asked him to fax me a copy of the lab paperwork. I was going to figure this out…

4.18 MB Duplication of 5Q14.3-Q15
13.9 MB Duplication of SQ21.1-Q22.2
The considerable size, number or annotated genes in the intervals and the low percentage of known variant region overlap all strongly suggest that these gains do not represent normal familial variation.
distal segments: RGMB, CHD1, PST, SLC04C1, PAM, HISPPD1, CUDT12, EFNA5, FER, MAN2A1, SLC25A46, TSLP, WER36, CAMK4, STARD4, C5orf13, EPB41L4A

That's a little sample of the 2 page report. Uggh… why can’t they talk in laments terms? Google is overrated too! I googled for hrs and hrs! A friend helped interpret some of the jargon, but we still don’t know what the whole picture means. Dr. K finally called me back this afternoon… she informed me she has an email out to someone at the M.I.N.D institute at UC DAVIS and a phone call into her contact at Stanford. She wasn't as versed as we thought... but she has resources!  Hopefully we’ll have more definitive answers tomorrow.
I had amazing support today. I can’t tell you what kind of emotional state I’d be in without the girls on my BBC board. Maddie, George, and I… we’ll be okay. If it’s big, we’ll get through it, but I have a feeling it isn’t going to tell us anything we don’t already know. Maybe it’ll give it all a name, maybe not… but IT CAN’T CHANGE MADDIE, she’ll still be the smiley little peanut who has me wrapped around her little finger … nothing can change the way my heart feels for her. I’ve learned what true unconditional love is. Hopefully I’ll learn the meaning of two duplicated segments on the 5th chromosome tomorrow.

Changing the World: One Doctor's Office at a Time

I received a phone call from the manager of our neurologist’s office regarding the letter I had written (see below). She said that she started to draft a letter back to me, but decided a phone call would be more personal. To be honest, I liked her. I liked that she apologized profusely was able to admit they dropped the ball. More then that, I liked that she promised this wouldn’t happen again to ANYBODY. Apparently she had a long conversation with the Dr. about what happened and they decided it was now her responsibility to make sure all patients are notified of test results. The Dr had taken for granted that patients usually call to follow-up…. my situation enlightened them. I could tell she was truly sorry, the tone in her voice spoke volumes! She said if I ever needed anything to call her…. even if it’s for advice or a referral to a new neurologist haha. I couldn’t be happier about the outcome… it might be a minor change in a small office, but it’s good change that might save another mom big heartache!