dyspraxia and Kabuki syndrome

[Guest guest]

Dear list mates,

eventually, after 7 years and a half, three different NP, enth pediatricians and hospitals, months and months of battles against idiotic comments and suggestions and wrong therapies, my daughter Alison got the right diagnosis: she is affected by Kabuki syndrome, a rare genetic condition. I pass this information along, in case it may be useful to anyone, since it is a rare syndrome but also very rarey detected.

My suggestion to everybody is: if you feel doctors are clueless, are treating you unfairly, and so on: do not give up, you know your child best. I put Alison on speech therapy privately and without the NHS NP knowing; went to see another fourth NP in another hospital in spite of the threatens of the NHS NP; had Alison hearing checked, when nobody believed me; the same with her eyes, the third oculist eventually got the right diagnosis; put Alison on EFA against NP opinion and got good results, and I could carry on for pages.

Alison was born preemie with a stenosis of a ureter; was impossible to feed, never sucked; has a cleft palate, now has odd teeth; had cancer (wrongly diagnosed as well), managed to survive to 7 operation and chemio; is hypotonic and dyspraxic (oral and developmental); has a hearing loss; has retinitis pygmentosa, has SID (getting better). All this, as a matter of fact, is related to Kabuki syndrome.

I feel a lot better knowing what the matter is, very angry at the thought if I had not spent nights researching on the web and reading English and American books on dyspraxia, on SID, on EFA, etc. nobody would have helped my child. I have also been treated badly, just because the doctors got disturbed by the fact I knew things they ignored.

If anybody is interested, here is the Kabuki site:

http://www.dlcwest.com/~kabuki/

I want to thank you all for the great support and information I have been getting from you all. Thanks and do not give up.

Simonetta, mom of Alison, Kabuki syndrome (at least is shorter then: dyspraxia, hearing loss, SID; etc.etc.!!), Milan, Italy

[Guest guest]

In a message dated 05/18/2001 10:07:17 AM Pacific Daylight Time,

spolengh@... writes:

> after 7 years and a half, three different NP, enth pediatricians and

> hospitals, months and months of battles against idiotic comments and

> suggestions and wrong therapies, my daughter Alison got the right

>

Way to hang in there, Mom! And who else would hang in there like that but

mom, right?