Medical papers posted

I've posted a link to several journal articles here on Emma's site (see the Helpful Links section on the right hand side; it's the first link) on the following topics:

1. People with TAR Syndrome and cerebellar malformations (2 papers)
2. People with rhombencephalosynapsis and hand abnormalities or cerebral palsy (2 papers)
3. Gomez-Lopez-Hernandez Syndrome (4 papers)

All of the papers are in PDF format.

What is "normal" anyway?

Just thinking about the word "normal", because I was wishing (for her sake) that Emma could be....

But then I remembered that blog "Better Than Normal" about the "differently-abled" little boy named Daniel who's near Emma's age....I love that title! :)

Here is a link to Daniel's blog: Better Than Normal

And I think about Emma, how she frequently wakes up singing "I love you, you love me...." or "Twinkle, twinkle little star". How affectionate and cuddly she can be, and how incredibly SMART she is sometimes!

Then I realize that Emma is who she is, and she's a wonderful little human being. Sure it would make life easier for her if she didn't have all of the issues and disabilities that she does, but I have to believe that she will be OK anyway.

Syndromes and more syndromes.....

I was doing more research on the Internet about Emma's latest diagnosis, rhombencephalosynapsis (aka RS), and one paragraph mentioned that there is a rare syndrome whereby all those afflicted by it are born with RS. The long medical name of the syndrome is cerebellotrigeminaldermal dysplasia, but it's also known by the names of the doctors who first described it: Gomez-Lopez-Hernandez Syndrome.

Paul says it sounds like a Tijuana law firm.... :)

In any case, of course I HAD to go look it up. It turns out that it's incredibly rare....only nineteen cases reported in the literature so far (as of February 2008). I found the major papers, with descriptions and pictures of the children, and downloaded them.

And now I'm absolutely convinced that Emma has this syndrome.

Some of the major distinguishing characteristics of GLH Syndrome are:

1. rhombencephalosynapsis
2. partial scalp alopecia (distinctive bald spots on the sides and bald strip in the back)
3. trigeminal anesthesia (no sensation or diminished sensations in the face)
4. craniosynostosis or asymmetric skull (turricephaly)
   
5. Hypertelorism (wide-set eyes)
6. Midface hypoplasia (flattened mid-facial region)
7. small nose
8. smooth philtrum
9. thin lips
10. high arched palate
11. low-set, rotated ears
12. strabismus
13. intellectual impairment
14. ataxia
15. seizures
16. short stature and/or HGH deficient

Emma exhibits ALL of these except for 3, 10, 13, and 15. Many of those who have been diagnosed with GLH Syndrome don't exhibit all of the characteristics either....the major constant features are the RS, the bald spots, and the "cone-head" skull (turricephaly). And of course Emma had eye surgery to correct strabismus (#12).

Here are some pics from medical journal articles I downloaded which show the bald patches and the other features ("wide-set eyes", oddly-shaped skulls, etc.):







And here is Emma from the back, taken today (she's got braids today, so you can see the bald spots):







Here are a few other Emma pics taken some time ago:






It's amazing to me how the pictures of those babies from the medical articles resemble Emma....the same tiny nose, the same wide-set eyes, the same pattern of bald spots. It's not easy to see in these pics of Emma, but she does have the long, oddly-shaped skull as well. They tried to re-shape it using a DOC helmet but it didn't work.

I'm planning to send copies of these articles to Emma's doctors so that they are prepared for a discussion about the possibility that Emma has GLH Syndrome when next we meet.

But I just don't understand this....how can Emma have TWO very rare syndromes at once?? TAR Syndrome AND Gomez-Lopez-Hernandez Syndrome together? Isn't that like lightning striking in the same place twice? Or are the two syndromes somehow genetically related to each other and no one has ever noticed this before?

All I know is that I want answers! I want to understand all of this!!

I suppose that my insatiable drive to understand is just an attempt to "control" the situation, even though I know that I cannot really control anything about Emma's conditions.

I would gladly take her illnesses on myself, if it would free her to be "normal". I wish I could.

Visit with Dr. Imbus....and confirmation of a new diagnosis

Last Wednesday we took Emma to see her neurologist. We gave him the MRI CD and the printed reports with the findings from Dr. Nelson (the neuroradiologist at Children's Hospital of Los Angeles).

Dr. Imbus had never heard of rhombencephalosynapsis, which isn't surprising given its rarity. He had to look it up in his big pediatric neurology book, and even that only had 2 sentences on it! But he looked at the images, and said that he saw the same things described by Dr. Nelson. When I asked him why no one had ever spotted this problem before, Dr. Imbus just smiled and said, "Because Emma's MR images were never read by Nelson before." Then he explained that Dr. Nelson is one of the best neuroradiologists in the world (possibly THE best in the world).

So...the bottom line is that Emma definitely does have rhombencephalosynapsis. I asked Dr. Imbus if this explains Emma's tone issues and he said yes, absolutely, because people with damage to the cerebellum are generally "floppy", as he put it.

He asked if there were any articles in the literature about TAR Syndrome and cerebellar anomalies. I couldn't remember any, but sure enough, when I got home and Googled "TAR Syndrome cerebellum" I did find some. So it's possible that this cerebellar malformation is just another TAR Syndrome thing. I'm planning to write an email to Dr. Judith Hall (the doctor who coined the name "Thrombocytopenia Absent Radii Syndrome") to ask her what she knows about brain anomalies and TAR Syndrome.

Emma's long-awaited MRI results

We got the results from Emma's recent MRIs at CHLA today. I say that they are "long-awaited" because we've wanted her to have a brain MRI for a long time. We felt that it might shed a little light on some of Emma's problems, but we were always told that we had to wait until she was somewhere between the ages of 2 and 3.

On September 29th they imaged her chest and spine (because of the cyst in her chest) and her brain (because of her neurological symptoms and microcephaly). Since Emma had an appointment to see the pediatric surgeon at CHLA, the one who had ordered the chest MRI, we decided that we would go down to radiology and pick up a CD of the MR images and the reports while we were there.

Emma's new neurologist, Dr. Imbus, wants to see the brain images of course. He surprised us at her first appointment with him when he told us that she DOESN'T have spastic diplegia! So I asked why she couldn't walk yet, and he said that part of the problem was that she's hypertonic in her legs and she can't straighten them out very well. But I guess that begs the question....WHY is she hypertonic in her legs? And WHY is she hypotonic in her trunk?

Anyway....back to the MRI results. I was absolutely floored when I read the results of the brain MRI. The "Findings" section says:

"The cerebellum is malformed with the central white matter continuous across the midline. The ventricles are normal in size and configuration. The brain parenchyma is of normal signal intensity on all sequences without focal abnormality. Myelination is appropriate for the patient's age."

The "Impression" (is that a formal diagnosis or just a WAG??) section says: "Rhombencephalosynapsis, a malformation in cerebellar development."

I Googled "rhombencephalosynapsis" and found out that it's SO incredibly rare, they think that fewer than 1 person in a million has it. Only ~50 cases have been reported in the literature. And the same literature reports that most of those who have it die in childhood, although I found a few references to adults, mostly in their 20s and 30s but one woman who was 48 years old.

I'm really, really freaked out right now. Holly, I know that you know EXACTLY how I'm feeling. :(

I tell myself that we haven't heard this "officially" from Emma's neurologist yet. And if rhombencephalosynapsis is so rare, how many times can the doctors at CHLA have seen it? What if they're wrong? Also, if it's so rare, then the odds are that Emma DOESN'T have it....right?

And we have the Great Physician on our side....I must remember that too.