Re: vaccines--Gloria

[Guest guest]

Gloria,

This is sort of off topic, but who gave your daughter the Optiz dx? The

reason I ask is that the developmental pediatrician says that she thinks

that might fit unto the Optiz Trigoncephaly syndrome but there is not

a specific test for that? I am hoping maybe you have some more information

than that?

Crossing my fingers,

[Guest guest]

Hi !

She was given the diagnosis mostly through elimination of other

syndromes with similar characteristics. The chromosone study for one

of the markers was negative, not surprising it usually is, but it

fits best. There is a web site at

www.opitznet.org and an e-group. It is very informative and the

parents are terrific!

Thea has hypertelerism, epicanthus folds, flat nose bridge,

hemifacialmicrosomia, low-set protruding ears, a crease in her head

where a cleft started, a crease in her lip, dysphagia, failure to

thrive, resolved umbilical hernia, resolved bilateral hip dysplasia,

improved cranial scoliosis, mixed tone CP, SID, global dyspraxia,

strabismus, she was born at 38 weeks induced due to IUGR and fetal

distress, scoliosis, widow's peak, she has had Botox injections 2X

each adductor muscle and achilles tendon lengtenings, 2x ear tubes,

aquired neurosensory hearing loss and she has an extra case

of " cutes " and is extremely stuborn and tough. She is non-verbal and

only recently began " babbling " , but she has terrific reseptive

language skills. Her fine motor skills are a mixed bag, she has a

tripod grip on a pen, but she can not do the simplest puzzle and just

started to stack blocks. She just started walking and wears AFOs,

but the spasticity in her legs is continuing to increase. She falls

constantly and tires quickly. She is asymetrical in her growth as

well as her muscle tone and strength. Her arms and legs have

spasticity and her trunk is hypotonic, especially her abdomen and

pelvis.

We have seen just about any kind of doctor for tests and

recommendations. The metabolic specialist the we use felt strongly,

the first time she saw her, that it was Opitz G/BBB and her

pediatrician, neurologist, ENT and orthopedist concurred. The

genetics specialist was way off track and tested her for ,

Lemly, Opitz by mistake and then wouldn't admit her mistake. When we

went back to her, she agreed that she appeared to have Opitz G/BBB.

I think she brushed up on her Opitz syndromes.LOL

My push when she was an infant to find a diagnosis was to insure that

we didn't miss any treatable/curable disease and unfortunantly we

will probably never be 100% sure exactly what syndrome she has, but

that seems to be par for the course with a lot of syndromes. We have

been so much luckier than most in that some of the more horrific

aspects of Opitz did not progress. So many of the children have many

medical issues, brain malformations and autism.

We are now revisiting the metabolic diseases, because of some crisis

that may point to this. I was hoping that we had passed that

possibility. Also, we are going to put together a team of doctors at

NY Hospital to go over everything and see if we can figure out why

she is not progressing in some areas and why her muscle tone issues

seem to be progressive.

I had a pediatric neurologist for my older son that was one of those

gifted diagnosticians. He was always being called in to take a look

at undiagnosed children and he could often see what others were not

seeing. I keep hoping we will hit that kind of doctor with her and

you might want to ask around to see if such a doctor in your area

exisits. Sometimes it seems to be luck that a doctor just saw a

child with your exact syndrome and it is fresh in their mind. Also,

some parents use developmental pediatricians that are able to

recognize different syndromes and a physiatrist is also helpful.

I hope I have given you some information that is helpful and I wish

you the best in your search.

Gloria