We just saw our geneticist today and they told us the results of our FISH. it was just a confirmation of the previous dx.  Isabella has a 11.26mb deletion from 4p16.3-4p15.33.  It falls under the classical group (there are 3 categories mild-classical-severe) .  He printed out an article for us that is very informative, it’s titled “On the Nosology and Pathogenesis of Wolf Hirshhorn Syndrome” .  It’s an analysis of 80 WHS patients.  It talks about the WHS critical regions, clinical categories of WHS, deletions, deletions size possible effects, translocations, prognostic factors for mental disabilities and a bit more.  There are a lot of medical terms and things that i don’t really understand but it’s informative.

A few parts that were really interesting was where they talked about seizures being a prognostic factor to mental disability, as there were some cases with smaller deletions but severe mental delay due to status seizures in infancy.  Another point made by the article is on deletion sizes that are carried out with a single molecular probe falling within the critical region,  they say that sometimes a presence of extra chromosome material on the deleted 4p can cause large 4p deletions to be mistaken as small deletions.

Many large words and medical terms…I read the whole thing, but i think my brain only processed 30% >.<**

But one thing our happy go lucky and awesome geneticist said to us,  is that he saw a change in my husband and I and that we were more relaxed and happy (quite obvious as the last time I saw him he just gave us the dx) ;)But it was a very nice thing to say because at that moment i realized that all this mumbo jumbo, yet informative 😉 WHS facts and prognosisis are just what is on paper. As many doctors say, WHS is a spectrum syndrome…and the spectrum is huge and unknown.  I know my Isabella and I know that she is an unbelievable fighter, I know that she will be ok, and i know that she will thrive.  I know that she is chubby and can chew, and i know that her smile melts my heart.  And i also know that she is delayed, and i know that our road isn’t smooth.  And i know, for a fact, on paper, in my heart, in my soul and in my being… that i love love love her unconditionally for who she is…x

Here are some recent pics of her….and i sincerely send my love to all of you for being such strong and inspiring parents…x

My First Two Teeth at 14m

 

Eating Pizza…atleast trying too 😉 on Her Birthday!!!

 

Her Baptism!

 

Going for a walk…hopefully no pram soon!!!

 

Play time plus fine motor skill training…:)

 

5 Responses to What I know…

  1. Latosha says:

    She is simply beautiful!

  2. Anonymous says:

    Isabella is darling and her progress is awesome! Thanks for the informative post. Ava has the exact same region of deletion only a little bigger (12.3 mb). They seem to have a lot of similarities which gives me a lot of hope for Ava’s development. Even the reflux issues that Isabella has (mentioned on the Discussion page) describes Ava to a “T”. I wouldn’t mind getting a copy of that article. Any way you could scan it and email it to me? clc_1122@yahoo.com Thanks!

  3. letty says:

    Your baby girl is lucky to have you as are you. She’s soooooo precious.

  4. Tamara says:

    Thank you for posting on my story. I am glad to hear that Isabella is doing great, especially eating well. I am really interested in reading this article. Please email it to me at tamaracarter1987@yahoo.com. Thank you!

  5. Ecaterina says:

    I have a boy with the same deletion. Is is possible to send me the article? Thank you very much. Adress is adya_r@yahoo.com

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