This blog is dedicated to differently-abled children, particularly those diagnosed with a radial ray defect, hematological issues, Failure to Thrive, developmental delays, microcephaly, cerebellar dysgenesis or cerebral palsy.

Sunday, April 27, 2008

More on Emma's latest diagnosis: microcephaly

When the neurosurgeon pronounced Emma "definitely microcephalic" on 19 March 2008, I couldn't understand why no one ever said that Emma was microcephalic before....she's constantly being poked and prodded and measured by medical personnel. Why wouldn't they see this earlier??

So I went back through Emma's old medical records, looking for measurements of her head, and then I measured her head myself (I couldn't remember the exact measurement from the neurosurgery appointment). I measured her HC at 17 3/8 inches, which is 44.1 cm. I plotted the data on a copy of the Microcephaly Head Circumference Chart that I downloaded from the Yahoo Microcephaly site. Here are the results:



The red dashed line is before zero months, because Emma was born about 5 weeks early. So all of the plotted "ages" are adjusted ages (subtract 5 weeks from her real age).

It's pretty clear that when she was very young (less than six months old), Emma's head circumference was within "normal" limits. I'm missing some measurements, but it looks as though she probably started to fall below the curve by the time she was approaching her first birthday. The last few measurements have been below the 2nd percentile (more than 2 standard deviations below the mean), and now she is approaching 3 SD below the mean.

So I guess that lets the doctors off the hook....I was getting a bit upset at the fact that no one had EVER used the word "microcephalic" when describing Emma before 19 March '08!

From what I've been able to gather from the Yahoo microcephaly group, Emma is exhibiting a fairly common pattern of head growth (or lack thereof) in that her head growth seemed normal at first, then slowed, and now seems to have (almost) stopped.

Of course, we're still trying to understand what this means for Emma....microcephaly seems to be different for different people, as far as the severity and the actual impact on one's life.

The Lord is still in control!

Recent milestones.....Emma in action

The video below was created 6 April...until very recently, Emma could not sit without support! Now she can sit for several minutes if we put her "in position" first.

video

It's very hard to catch Emma with a camera while she's counting, because every time I pull out my camera she sees it and stops. Below is a very brief (and very amateur video) of Emma counting on the evening of 21 March:

video

For some reason she used to leave out the number seven on a regular basis! :-) She does say "seven" most of the time now....in fact, lately she has been counting all the way up to twenty, but I haven't managed to get video of that yet.

Email correspondence with doctors moved

I've created a new set of links on the right-hand side that lead to the various emails I had posted earlier. They are rather long, and people shouldn't have to slog through those unless they REALLY want to! :-)

The emails that are currently available are those between me and Dr. Hall, and center around TAR Syndrome.

Wildfire in the hills less than three miles from our home

We are watching a huge fire on the hillside above our home tonight...we can see it clearly from our bedroom window and we smell the smoke, too. It's about 2 and 1/2 miles from us at this point, and it doesn't have much of a chance of reaching us, because there's a freeway, and a mall, and the Arboretum and hundreds of homes in between.

But it's not comfortable trying to go to sleep with a fire that close!

I found another blog that shows some pictures.....

Of course, Emma and Matthew are sleeping peacefully.

Monday, April 21, 2008

Emma's appointment with Dr. Paley

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.

Wednesday, April 16, 2008

Here we are, in Baltimore

And I'm REALLY sick! I have a cold....or something. Anyway, we flew out today from Los Angeles to Baltimore to see Dr. Dror Paley, who is an eminent orthopedic surgeon who has worked on many of the people who post on the Yahoo TAR Support Group. All of his patients have wonderful things to say about him, and when I emailed him about his particular surgical technique (ulnarization) for straightening radial club hands, he told me that he has NEVER seen a single reversal! This is miraculous, because the other "tried-and-true" techniques, centralization and radialization, both have significant rates of reversal. In other words, the surgeries "come undone". But a repair done using his technique does not reverse itself....which is why we are flying more than 2,500 miles to see him.

I have to get ready for bed, but just wanted to post our whereabouts, and that Emma's appointment is tomorrow morning at 10:30am (Eastern Daylight Savings Time).

Good-night, all! :-)

Saturday, April 12, 2008

First post

This is not my first or only blog, and my other blogsites do contain a lot of information about my 22-month-old adopted daughter, Emma. But they are geared for friends and family and include lots of other things which just distract from Emma's story.

This site will be exclusively for and about Emma, and I intend to (ultimately) make it public. I have gleaned SO much at times from various blogs and websites written by other parents about their children with medical challenges, that I feel compelled to try to give back something to the community of parents of differently-abled children, if I can.

And I want to celebrate Emma, her beauty of face and of spirit, her strength, determination and sense of fun. I want to record how we, as her biological grandparents and adoptive parents, deal with the many complex issues that arise as her medical diagnoses have evolved and multiplied.

More soon....