symbrachydactyly: a word few know

Symbrachydactyly
From Wikipedia, the free encyclopedia
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or, rarely, foot. In many cases, bones will be missing from the fingers and some fingers may be missing altogether. The ends of the hand may have "nubbins"—small stumps where the finger would have developed, which may have tiny residual nails.
Symbrachydactyly has been reported to appear without other combined limb anomalies in 1 in 30,000 births.
The cause of symbrachydactyly is unknown; doctors theorize that it results from a failure of blood flow in the affected arm, causing the fingers, hand, or part of the arm itself to cease development.
In most cases, children born with symbrachydactyly are able to adapt to their physical limitations and experience a fully functional life with no treatment. Possible treatment includes surgery or a routine of regularly stretching the fingers.


Fiona's story:
When my twin daughters were born over three years ago, the furthest thing from my mind was that anything would be physically wrong with either of them. I had had so many ultrasounds that I figured everything would be "normal," or as normal as can be for a premature birth.
Not long after I was wheeled into the recovery room, my ob/gyn gently told me that Fiona was a beautiful girl who had a slight problem with her right foot. She pulled Fiona's foot out of her receiving blanket and showed me: her foot was small, and where her toes should be, there were only little tiny "toes," nubbins that looked all squeezed together.
I was so doped up from morphine and exhaustion that my response was rather subdued. I still don't feel that Fiona was dealt a cruel hand. Not at all, but it will be a problem for her at times.
I was thankful she didn't have anything major wrong. I mean, I knew people who had babies with holes in their hearts and such. Fiona was otherwise perfect. No, she is perfect.
As soon as I could, I took Fiona to the best orthopedic specialists in the Tristate area. A local and renowned hand surgeon, Dr. Peter Stern, was the one who diagnosed Fiona. Turned out, she had an extremely rare condition known as symbrachydactyly, which most often affects the hand.
I educated myself as best as I could, but really, there was and is virtually nothing available on this condition. All we can do at this point is treat her so she can do as many things as other kids her age are doing.
She can run and walk as well as any kid, and you really wouldn't know she had this condition unless you saw her barefoot.
At only three years old, she is completely un-self conscious. But this will change, and her dad and I talk about it from time to time. Cosmetically, she may want to do something about it. Physically, she may need some amputation later on. It remains to be seen, and she continues to see a specialist at Cincinnati Children's Hospital on an at-least annual basis.
She also gets an orthotic/insert made annually at JF Rowley's, a prosthetic specialist in Cincinnati. This insert allows her to wear the same size shoe on both feet, albeit with some restrictions. She is limited to gym shoes and shoes with "closed" toes. She can't wear Mary Janes or sandals. Her only pair of "dress" shoes are actually for boys, since all girls' dress shoes are Mary Janes. Very frustrating but all in all, hasn't posed a large problem for her...yet.
Fiona will want to dance, play sports and be stylish, like any girl. And I want to ensure that she has no limitations.
"Why did this happen?"
We don't know. I wondered if I drank too much water from the water fountain at work--"did it have too many harsh chemicals?" Or did I eat too unhealthily? Was it from being over 30?
Thankfully, my husband would hear none of this. We move forward--that's our only option. And his greatest strength. Whenever I want to wallow--in making myself feeling bad--he pulls me out of it, quick.
And besides, my daughter is so amazingly, beautifully perfect. When she's older, I'll tell her how I grew up and remain deaf in one ear. It didn't stop me from anything.
I've never called her "normal" foot normal. I tell her she has one little foot and one big foot. That's the truth. And then I kiss her little toes, her big toes and hold her tight. And then she's on her way.

In Sickness...

OK; it's been over two years since I blogged...
I had every intention of doing this more often at the start, but frankly, I got too busy, too tired and too desirous of not looking so inward for a while. A novelty for me, I know.
I need to write again now.
A lot has happened since 11-2006.
My son is ten and a half weeks old, for example.
Another crazy surprise for me and Josh--more love, more worry...
Since Finn was born last November 17, we as a family have had at least 2-3 colds, and Fiona has had pneumonia. In fact, in the last 12 months, we've been sick 6-7 times with colds, bugs, etc.
I haven't been this sick, this often, since grade school. Chalk it up to the fact that the girls started preschool last September, too, but whatever the case, all this run-of-the-mill sickness is exhausting. Probably mostly for me--the mother.
That's the thing I wasn't really expecting--in between all the normal tough days of motherhood and wifery (ha!), there are the extra challenges, like your child or children being sick. You don't sleep at night, you worry, you take temperatures and you call the doctor. And then you get sick, too. But no days or even hours off--it's always "go time" when you're a parent.
With my husband working a lot at his job, I am the one at home the most. And I am certainly more controlling, so even when I can get some help or time off, I rarely accept or want it. So I get more run down than the rest of the family on a regular basis.
I can't imagine what life would be like if my husband expected me to lose all the "baby weight," cook dinner every night and have a well-kept house 24/7. I got lucky. He never pressures me--but I certainly pressure myself.
So here I am, two weeks post-cold, now with some kind of residual sinus infection from hell. What else is new? If it's not something, it's something else. I panic sometimes when I realize I won't rest until--unless--I am much older. Ahhh, learn to love the here and now. Right?
My mom is always telling me that she thinks we're here to be happy--with who we are and what we have. She's experienced real loss. She lost her dad when she was five and her sister at age 29. Her best friend died in a flood when they were six. I mean, what kind of tragedies have shaped my mindset?
Only imagined ones, I guess. I wish that were enough, 'cause I know that if I live long enough, they will come.
In the meantime, it's sleep deprivation and the endless cycle of viruses to contend with. This, I guess, I can handle.