I've been meaning to post something about this for DAYS but have been very ill (I may have bronchitis evolving into pneumonia at this point). In any case, here is my attempt at reporting on our visit to Baltimore last week.
On April 17th, Emma was finally seen for the first time by Dr. Dror Paley, of the Rubin Institute for Advanced Orthopedics in Baltimore, MD. We live in Southern California, so just taking Emma to the appointment cost a significant amount of money. But we had heard that Dr. Paley is one of the best surgeons around for the type of surgery that Emma needs on her arms.
It took a little while to get into a room after we signed Emma in at the receptionist's desk, but we were told that Dr. Paley had 14 new patients scheduled for that day, so he was running behind. After a while a young man came in to talk to us about Emma....we went over my "cheat sheet" on her more serious issues and diagnoses that I give to all medical professionals.
Emma was then x-rayed and we waited in a different room. I powered my computer on and popped in a Teletubbies DVD for Emma....she was becoming very bored and fussy but Teletubbies always work! :-)
Finally Dr. Paley and 4 other people came into the room. He was very interested in everything about Emma. He seemed quite skeptical about the possible diagnosis of cerebral palsy....I certainly hope he's right that Emma DOESN'T have CP!! He was interested in her head; we talked about whether or not she might have craniosynostosis.
We discussed possible surgery for Emma's arms, and he confirmed to us that (so far) with more than two dozen ulnarizations (Dr. Paley's own procedure) performed to date, he has never seen a reversal occur. We were very favorably impressed, and ended up setting a date for surgery: 30 June 2009. Because of Emma's multiple diagnoses and her complicated neurological issues (global developmental delays, microcephaly, and possible spastic diplegic cerebral palsy), Dr. Paley wants to wait until she is 2 1/2 or 3 years old to do the surgery. I think perhaps he wants to have the cerebral palsy confirmed or ruled out prior to surgery.
Dr. Paley gave us two wonderful (and astonishing) news items about Emma:
1. As far as he can tell, she has no lower limb issues at this time...her knees are fine, which is wonderful! (frequently people with TAR Syndrome have knee or leg problems)
2. Emma has a partial radius bone in her left arm! (Astonishing! ) Even stranger.... this remnant is NOT near the elbow, but instead is in the wrist area. And it has its own growth plate! Dr. Paley says that this opens up other options for the surgery on her left arm that he doesn't have with the right arm, which is missing the radius entirely. So this is wonderful, too!
But I just don't understand why NO ONE has ever told us this before! How could they have missed it?? Maybe they saw it but didn't feel that it was important??!?
As far as I can tell, going by Dr. Judith Hall's online summary of TAR Syndrome, this means that Emma does NOT have TAR Syndrome! So what on Earth does she have??
From Dr. Hall:
"The consistent feature of TAR is absence of the radius but presence of the thumb. One hundred per cent (or as close as you can get to a hundred per cent) of individuals with TAR have bilateral absence of the radius. For practical purposes the diagnosis shouldn't be considered unless there is complete absence of the radius bilaterally. "
I've sent email Dr. Hall asking her this question directly, since she is the person who originally defined TAR Syndrome and gave it that name back in 1969. I'm very interested in what she will think about this!
In the meantime, I sent out a plea for information on the Yahoo TAR Support site asking if anyone else with a diagnosis of TAR Syndrome was born with a partial radius in one or both arms. So far there have been two replies in the affirmative.
I will post more in the near future...about what the surgery will do and our options for where we will stay during the immediate post-surgical period.