Thursday, March 6, 2008

Spare Ribs, (Ginneh) Williams Syndrome and other punny genetic anomalies...

Amina at 29 weeks:
From the womb we knew Amina was going to be a special child, but we had no idea just how special. For the past 6 or 7 months, just about every month Amina is diagnosed with something different. It started off with colic - she would scream for 3-4 hours per night and there was no consoling her. The only thing that got us through was the vacuum cleaner. About 2 1/2 months through, her pediatrician told us that colicky babies are soothed by white noise. We went through a vacuum cleaner and 2 blow dryers playing white noise for hours at a time. I was happy that it calmed her screaming, but white noise is still...well, noise, so to me it was just as annoying, but Amina slept so it was ok. At the moment of conception my sanity was no longer a priority.

Anyway, after the colic week by week the issues came rolling in:
  • Torticollis
  • Low muscle tone
  • High muscle tone
  • Fine motor, gross motor & cognition delay
  • Fourth Nerve Palsy
  • Pulmonary Stenosis
  • Chiari I Malformation

(Notice how the sh*t gets harder and harder to pronounce?)

And to top it all off, we found out that Amina has 13 pairs of ribs instead of the regular 12 that most of us have.

We are fortunate to live in Philadelphia and have access to the Children's Hospital of Philadelphia, fondly known as "CHOP" for all of you out-of-towners. People come from across the country to access the state of the art facilities and omniscient doctors. Amina has 2 physical therapists, a special instructor, a neurologist, a neuro-opthamologist, a cardiologist and a pediatrician. I mean these guys are supposed to be really friggin' smart. Look at her opthamologist Dr. Liu:

I don't mean to be culturally insensitive but as Thembi noted, who wouldn't trust an Asian in a bow-tie? He just reeks of 1600 on the SAT's. Model Minority for god's sake. My problem is this, every doctor we go to says the same line, "Amina has (fill in the blank with random disorder) but as far as (random disorder) goes its not that bad." Not that bad? Are you kidding? My daughter's heart's not pumping right, her brain's crowded in the back of her head and she has double vision, but its "not that bad"?!?!?! Sometimes I wonder if any of them have children because I don't know what makes them think that they can talk about the prospect of a "simple" heart, brain or eye surgery, and think that any parent would say, "You know you're RIGHT Dr. Liu! Its not that bad!" Bowtie or no bowtie, I'm not buyin' it.

The intellectual in me realizes that from a medical standpoint, these docs see the worst of the worst with kiddies that are far worse off than Amina. But the parent in me is pissed that they minimize every issue. And, for those of you that are parents, you know that sometimes the parent in you trumps all rational thinking. (For those of you that aren't parents, think of that bad ass kid in your elementary school class whose mom always came up to the school all ready to cuss the teacher out cuz she just KNEW her kid wasn't actin up like the school said...same concept).

We are going for genetic testing within the next few weeks so the doctors can determine if there is some sort of genetic condition or syndrome that is causing all of her problems. Williams' syndrome is one possibility that the cardiologist mentioned. It's sometimes called the "pixie" or "elf" syndrome because the kids have elf-like features. Some people have remarked that she looks sort of elfish and could possibly have Williams'. Judge for yourself:

I don't know. I don't really see it. Maybe its just that parental denial. I'll keep you posted on what the genetic docs say.


mofo said...

Didn't we go to high school with the doctor?

Dealing with doctors who see things everyday is so frustrating, they sometimes don't get that for you it is scary, severe and life changing. They are, sadly, used to dealing with syndromes, anomalies and other scary things.

I am glad to see you are keeping your sense of humor.

Mama Frog said...

Ginneh, I just stumbled on your site after stumbling off of facebook...SO much I didn't know and many prayers to pray but first, I had to laugh! Love the photo!!! - Robin

Ginneh Akbar said...

I'm waiting for the Williams Syndrome advocates to shut my site down...gotta laugh to keep from crying!