Sunday, October 13, 2013

I need your help...

Social media is an incredibly powerful thing.  This weekend alone, I've watched prayers and kind thoughts for a former co-worker's grandson spread through our area and even other parts of the country like wildfire, all because of Facebook. It's a wonderful, wonderful way to spread knowledge, ask for help, share love and caring for one another. So, I'm putting it out there. I need help.

Here's how this idea started. I was bored last night and looking through Netflix for something to watch. One of the TV shows caught my eye--it was a TLC special that I'd heard of but never watched.  It's called "The Tiniest Girl in the World", and it chronicles the life of a little girl with severe primordial dwarfism. At the time of the video, she was two years old and weighed in at seven pounds. SEVEN POUNDS.  Amelia is tiny; she's not close to that tiny.  The show was so interesting though, and I learned a lot. The word "primordial" means that the small size showed up before birth--so technically, Amelia DOES have primordial dwarfism. At 32 weeks gestation, she was the size of a 24 weeker.  Interestingly enough, this girl was much bigger than Amelia when she was born--this child was born at 36 weeks and weighed 1 pound, 11 ounces. Amelia was a mere 1 pound, 1 ounce. Amelia now tops the scale at a whopping 20 pounds--she will be five on February 10th.  This particular story took place in England, and it was high stress because they were trying to determine which kind of dwarfism she had--one type meant that she'd only live to be about three years old, and the other meant she could live into her thirties.  Fortunately, they determined she had the latter--the show had a happy ending.  It got me thinking though...thinking about the thought that is always, ALWAYS in the back of my mind.

Amelia is undiagnosed.

She's seen two geneticists--one at UK, one at Cincinnati--and they've run the common tests for all possible diagnoses, all of which have come back negative.  Essentially, they look at her, measure her head circumference, take pictures of her dysmorphic features (clinodactyly, triangle-shaped face, small eyes, wide nose...I could go on and on), and tell me that they still don't know.  Which wouldn't be a big deal, except that I want to be like the mom on the TLC special. I want to KNOW something about her life expectancy. Most days, the not knowing doesn't bother me. But it's always there, a nagging thought in the back of my mind. Will she be around in her teens? Her twenties?  She is healthy enough now, but will the Dandy-Walker be affected when her head grows? Will her echogenic kidneys get worse? Will her small size somehow impact her growing organs? No idea, because nobody knows what's going on with her.

Here's where you come in. I've asked repeatedly at Cinci if there is a specialty clinic somewhere in the country that I can visit, somewhere with someone who might know more about what could be going on.  They always insist that they don't know of any. So....I want you to share this post--share her story. Re-post it to Facebook. Send it to friends, to ANYONE who might know any specialists in the field of dwarfism/small stature. Send it to the news--I don't care! I just want help in finding someone--anyone--who would be willing to take a look at her (more than just her head circumference and body) and try to figure out what is going on with her. We will gladly travel anywhere in the country that has someone who would be willing to see us.

Please...if you think you or any of your Facebook friends could be of help, please consider sharing this post or sending them an email.  If you have ideas and want to send me an email, my address is wrw7728@gmail.com. After watching that show, I really want to pursue this. We appreciate any and all help you can offer.

Some pictures of Amelia from birth until now, for anyone who might want to see her dysmorphic features:

I mean, who wouldn't want to help that little face?

Thanks so much...

19 comments:

  1. A friend shared your post on Facebook. Have you considered Nemours / Dupont Children's?

    http://www.nemours.org/service/medical/skeletaldysplasia.html

    I think this is where Jennifer Arnold, from TLC's The Little Couple, and her husband, take their child with dwarfism, and went there herself as a child, as they are experts in the field.

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    1. Thank you--that's exactly what I'm looking for. Not totally sure if she has a form of skeletal dysplasia but I will definitely contact them and see what I can find out. Thank you...

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    2. This is a great website. Thanks so much for sharing.
      I understand your desire for a diagnosis & hope you find it. I have a 19 year old son with Achondroplasia & Downs Syndrome. Knowing the diagnosis was important to me when he was younger due to all the possible health risk & required treatment. Please know that the journey does get easier once you get past all the health issues & can focus on what a wonderful child that God has given you. We wish you & your beautiful daughter a life of happiness.

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  2. Here is a link to Dr. Jennifer Arnold's contact info. I think she could be a very valuable resource.
    http://www.texaschildrens.org/Locate/Doctors/Arnold,-Jennifer/

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  3. http://en.wikipedia.org/wiki/Russell-Silver_syndrome

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    1. Actually, we thought that she had RSS for about a year. However, both geneticists decided against that diagnosis...she's apparently too small for RSS, and she doesn't have enough of the characteristics. Thank you, though...

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  4. How about http://isdr.csmc.edu/ We had our doctors send our medical information for our daughter there. Hope it helps.

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  5. The International Skeletal Dysplasia Registry is the link I just posted.,,thought I had that written there.

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  6. http://rarediseases.info.nih.gov/research/pages/27/undiagnosed-diseases-program

    Another great place for undiagnosed(although this takes alot longer to get into, and I am not certain that they are taking any new cases at this time).

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  7. You should also check out Dr. Michael Ain at John Hopkins in Baltimore, MD. I'm a dwarf and I've seen him several times. He is fantastic, and he's also a dwarf!

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  8. Have you tried John Hopkins in Maryland? Someone out there has to know of somebody who can help you!!! Even if all they can give you is a name...John Hopkins would be a great start!!!

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  9. I also recommend Dr. Michael Ain at John Hopkins in Baltimore, MD! He is fantastic as is Dr. Julie Hoover-Fong at Johns Hopkins. My daughter is a little person and we travel to Baltimore to see both of them from Massachusetts. Good Luck and God Speed.

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  10. Have you seen an endocrinologist?

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  11. http://isdr.csmc.edu/contact-us/ I see that somebody else posted the ISDR link. We live in Central CA and we wanted to get everything scheduled all nice and convenient to take a trip down there over summer vacation. Their administrative ladies are super helpful, and once they get all the records/scans/xrays/mris then can arrange for a phone consult with a geneticist. So while it would be awesome to come to LA and have a big fancy appointment, it can also be done remotely.

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    1. We actually ended up not going down there for the appointment, because we were able to do so much by email and over the phone. We'll go eventually, just not super urgent right now.

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  12. We LOVE Dr. Bober and Mackenzie at AI DuPont Children's Hospital (Skeletal Dysplasia Clinic) in Wilmington, DE, and have been seeing them since our daughter's diagnosis. They are also on the Board with Little People of America, and where Jen and Bill (The Little Couple) recently brought their son!

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  13. I also have a daughter with a rare form of dwarfism who sees Dr. William Mackenzie (orthopedic) and Dr. Bober (genetics) at AI dupont in Wilmington Delaware. Dr. Mackezie is on the LPA medical board and is phenomenal. Can't say enough good things about him. I wish you luck. I know how much it means to have a diagnosis. Even though my daughter has a rare form and there isnt a lot of info out there, it still made a huge different kmowing what we were dealing with.

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  14. Have you heard of Russell-Silver Syndrome? My mom had me look into it. My daughter was born at 36 weeks too and weighed 1 lb 11 oz. At 2, she is 17 pounds. We are in and out of doctors to include the endocrinologists. Her bone scans were "normal," so they are now recommending growth hormones. We're not ready yet though.
    By the way, your daughter is beautiful. I wish you the best of luck.

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