Thursday, June 25, 2015

Goober Fish of #POMCIsland


#POMCIsland
Welcome to the Island!
Well, we'll tour the island anyway.





My nephew Nate is truly one in a million. His extremely rare genetic disorder isolates him as the one and only person diagnosed with POMC Deficiency in the United States.


"Technical" info I posted previously that I wanted to pull forward again. Please bear with me... 


 
POMC is a genetic disorder.  Nathaniel is actually missing half a gene R236G. (2P23.3 )  Other missing gene disorders more commonly recognized are Downs Syndrome and Prader Willis.  Prader Willis is closer to POMC in characteristics since they both exhibit hyperphagia.  This means that they are always hungry... Always!  Since it is genetic, there is no cure for it.  The symptoms are treated and a lot of attention, dedication, and love are needed to allow Nater to live his life.

Because of the POMC, Nater has many other problems including: Adrenal Insufficiency (AI), which means he has to take steroids for the rest of his life.  If he is sick, his dose is doubled, if he has a fever it is tripled, and if he vomits or passes out he needs an injection.  Another issue is hypothyroidism, meaning his thyroid doesn't work.  The problem here is that he is allergic to the thyroid medicine, causing dehydration and upset stomach... resulting in vomiting and a needed injection of steroids.

A third major problem is called hypothalamic.  The 'thalmus' regulates body temperature.  His doesn't work, so he can't tolerate either temperature extreme.  Summer months are difficult for him, making his beloved trips to the beach only possible from October through May due to the heat - even with the two specialized vests, donated to him, that help cool him.

One more major issue this four year old lives with is anterior & posterior pituitary disorder.  The pituitary gland is in the brain and controls the endocrine gland.  An MRI showed that his pituitary is small and abnormally shaped.  This essentially means that if his pituitary gland was normal, he wouldn't have any of the problems listed above.

What does this mean?

What you'd expect from a "normal" healthy and happy little boy. This doesn't damage his spirit though. He's such a happy, sweet and funny child. His infectious laugh can be heard through the many videos shared.

POMC Deficiency has isolated this kind-hearted, fun-loving boy on POMC Island, but his ocean of friends continues to grow as awareness spreads and people send the support and encouragement they have.

Show your support and donate to help Nate with his daily needs. Just click the ribbon. 

My sister, Nate's mom, goes this alone. She stands strong as a single mom. I'm proud of her and her strength as she also faces health issues of her own on top of caring for her amazing son.

So, this list of what Nate deals with is also a list of what his mom deals with from the other side.


P.O.M.C. can lead to life threatening complications.

Nate deals with:
1)Hyperphagia (insatiable HUNGER) *A LIFE THREATENING ISSUE
2)Hypothyroidism *A LIFE THREATENING ISSUE
3)Adrenal Insufficiency *A LIFE THREATENING ISSUE
4)Hypothalamic Disorder *A LIFE THREATENING ISSUE
5) Hypotonia~Low muscle tone
6) Developmental Delays 
7) Increased linear growth (he is tall and big) 
8) Anterior/Posterior Pituitary Disorder
9) PDD/NOS~ Many Autistic tendencies
10) Sensory Processing Disorder (SPD)
11) Low metabolism~ his diet must be 60% less than the average 
12) Severe Obstructive Sleep Apnea (OSA)
13) Megalencephaly 
14) Trichotillomania 

Join the community and show your support by clicking on the picture.
You can also get your own band for a small donation.


Every day with Nate, affectionately called "Goober Fish" by his mom, is a struggle, a blessing and an inspiration. This is why I'm writing a book:

Goober Fish of POMC Island

In this book, we'll meet the goober fish and join him on his adventures of learning and life, one of the few souls among us that overcomes all odds with humor and a contagious smile & laugh.





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