A Mother's Diary - Is This Autism? What is Niemann-Pick?

See Gabrielle on Fox 35 http://www.myfoxorlando.com/myfox/pages/Home/Detail;jsessionid=C0A93F018E2AF5...
http://www.GabrielleLaVerde.com The first eighteen months or so of her life were wonderful. She was a happy, sweet, smiling little girl, with big, sparkling eyes and she had the best belly laugh we'd ever heard. She started walking later than most, but was toddling around by 15 months. At 18 months we began to notice that she was not quite keeping up with other kids her age. By her second birthday, we knew something was wrong. Her pediatrician thought she was "perfect" and she would "catch up" at the the age three. By her third birthday, it was even clearer to us that she was having difficulty with her speech and gait. Her balance and coordination were not what they should be. Her fine and motor gross skills, speech, sight and hearing were tested. Mild Cerebral Palsy was mentioned. A new doctor mentioned that she had connective tissue issues, hyperflexible joings and nearly flat feet. He scheduled a Behavioral Pediatrician, a Geneticist, and a Neurologist. The Behaviorial Pediatrician worked with us for 1 year, and ruled out Autism. The Geneticist and Neurologist after 2 years, and countless blood tests, EEGs, MRIs and CT scans, everything was negative, except that Gabrielle was having "absence seizures". Seizure medications were discontinued after Gabrielle could no longer hold a fork or sit up. We tried the best doctors in Orlando, when finally we went to Jacksonville and met a Neuro-Muscularist. Her Geneticist thought she had mitochondrial disorder. 4 months later, everything was negative. After insisting for answers, he recommended the Kennedy-Krieger Institute at John Hopkins. Gabrielle was seen the Movement Disorders Department & the Neurology Dept. This was 2007, and Gabrielle was 5. The opinion was a progressive degenerative disease. That was a huge blow for us. We then went to a specialist in Brandon, Florida who did a skin biopsy to rule out Niemann-Pick. Six weeks later, the results were positive, and our answer was daughter's death sentence.

Category:

Nonprofits & Activism

Tags:

• autism
• autistic
• niemann-pick
• Type
• neimann
• Gabrielle
• LaVerde
• Florida
• movement
• disorder
• kennedy
• krieger
• cerebral

[gabrielle824]

Kalevala87 I do agree, though, that most of the time doctors should be more aggressive when a parent is telling them that something is wrong with their child. The pediatrician we switched to when she was 4 did it instantly. We love her. I guess one of the lessons learned is to keep looking for an answer when you know something is wrong. We were fortunate to have so many doctors working so hard on her behalf & who didn't give up on helping us.

[Kalevala87]

It is truly appalling that in 2011 it should take so long to get a diagnosis of a relatively known condition. Paediatricians should ALWAYS refer parents to a neurologist first thing whenever developmental delay or regression is suspected. It should become routine.

[gabrielle824]

@Kalevala87 Trouble is, her condition is not well known, and is classified by the CDC as "ultra-rare". To futher complicate her diagnosis, Gabrielle didn't have either of the two signs typically associated with NPC - an enlarged liver &/or an enlarged spleen. For her, all of her symptoms have been neurological, which does make it more difficult. And usually, when you hear hoof prints, it's a horse. Every once in a blue moon, it's a zebra. Gabrielle is a unicorn.

[ZoeyK86]

This sounds like Rett Syndrome.

[gabrielle824]

@ZoeyK86 Gabrielle was tested for Rett's, but the test came back negative. She was thereafter positively diagnosed with Niemann-Pick Type C. I'm not sure if Rett's is progressive, like Niemann-Pick, but the symptoms are very similar. Thank you for watching.

[macguyvergirl]

What a beautiful video. Thank you for sharing your story. I'll do what I can to post it on other sites to help raise awareness.

If you would like to see my little guy, who has yet to receive a diagnosis other than "Developmental Delay", watch "Tristan In NM Rain" on my channel.

They said he has hyperflexibility in every joint, low muscle tone, and "Functional flatfoot". Your video reminded me of that trip to the neurologist. I wish you only the best :)

Aryca ("macguyvergirl")

[gabrielle824]

@macguyvergirl Thank you. I will definitely check out your son's viedo. I'm so sorry to hear of his difficulties. I know all too well how exhausting and frustrating it is to search and search and not find any answers, but don't give up. Do everything you have the opportunity to do for him. Go to bed each night knowing you did all you could for him that day. It's the only way I can sleep at night. I pray you will find the answer soon, and that he will be okay. Thanks for watching.

[Stolenmyheart28]

The things that you write about at 5:58 will not matter. She will teach you more about love, patience and kindness than you ever knew. You will love her more than you ever could love a child. My niece has Rett Syndrome and she cannot walk or talk, but she brings so much beauty to this world. Good Luck and God bless!

[gizington]

Her litle face at 6:03 speaks a 1000 words. She is very sweet. I have a friend whos son has autism. My heart goes out to you and your daughter. xxx

[JessWuvs2laf]

@gabrielle824

AZproductions told me they didn't write that negative comment, this person was hacked and someone else wrote that comment. I'm sorry for this and they wanted me to ask if you could unblock them

Thank you

[JessWuvs2laf]

@gabrielle824 I really hope she gets better. My mom told me about the fundraiser, and when I read about Gabrielle, I just wanted to tell my friends so they could help. I hope she gets better and it kills me inside to know what happened. :C

[JessWuvs2laf]

I'm so sorry this happened. My mom told me about her and the fundraiser, I would be so happy to help by going to the fundraiser. I'm almost crying right now, typing this. It just hits me over and over & it hurts to think about what she's missing. I really hope from the bottom of my heart that she gets better, and I want to try and make a difference for her. I want you all to be able to see her walk again, to her wedding day and on.

Shedding tears, Jesse (Jesswuvs2laf)

[andymission]

Mother Creator

~~ Loves You ~~

[LeslieDMartin]

*Big Hugs* to you and your family from ours <3

Thank you for sharing your story. You all are in my thoughts and prayers