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.