If you think my hands are full... you should see my heart
Hello!! it's me...The POMC Momma..I am a 50+ yr. old raising my super rare son. I have a grown daughter she is 31 and Nate is 6. yes!!... 25 years and 2 days apart.
Nate had issues about the time he was 4 weeks old. He did not sleep longer than 3 hours. ever. he screamed in pain almost the whole time he was awake for the first 6 months but we did not get a Dx until he was almost 2.
At this time he is the only person in the USA with POMC (pro-opiomelanocortin deficiency disorder -2p23.3) he has a possible second Dx of SIM1 -6q13.3
So this story; this blog is how we were not so elegantly dropped onto a RARE and deserted Island that I named 'POMC Island' I am sure even though our stories are different there will be many things the same.
I dived in and searched and researched to find everything I could about this super RARE enemy that I found myself fighting. alone. in the dark. with no help.
Our doctors had to be educated (by me)
the nurses and the EMTs all get a quick rundown on his issues.
this is the info they get from me:
Nate has several life threatening conditions...and to think it only takes one
1) Congenital Adrenal Insufficiency (a rare condition that can cause a quick death if untreated crisis happens). He has to be on steroids for the rest of his life
2) Congenital Hypothalamic Disorder He cannot control his body temperature and so cannot go out in the heat. He has gotten heat stroke just being outside for a few hours and he went into Adrenal Crisis anything over 85 he wears a 'cooling vest' he also cannot go out in the cold. (not really an issue here in Florida)
3) Hyperphagia the doctors believe that his Vargus(sp?) nerve does not work and thus he was born hungry, he wakes hungry, is hungry all day even as he eats he worries about his next meal. and he goes to bed hungry. this too is a life threatening issue as he could eat until his stomach burst if I did not control his food intake
4) Congenital Hypothyroidism ...he takes Syntroid but I have to watch the medication to make sure the pharmacy never gives him the generic form because he is allergic.
5) Anterior and Posterior Pituitary disorder the 'Main' endocrine gland has been found to be small and abnormal. and that is why non of his endocrine glands work.
6) Autoimmune Deficiency because of the aforementioned issues
7) He has Hypotonia and wears DAFOs and uses a wheelchair because of the fatigue and pain of walking far.He also has GI issues because of his low tone. He did not walk until he was 3.
8) Autism but unlike some on the Spectrum he is very social, but ridged as regards routine. we MUST do certain things.CHANGE is bad and OCD rules his daily life.
9) SPD sensory processing disorder means to him that music is painful as is laughter and clapping. we have ear mufflers that he wears often to block out unwanted sounds.
10) Obstructive Sever Sleep Apnea. He has had 3 sleep studies and had his tonsils and adenoids removed and tubes put in his ears. right now he is on Oxygen at night only via canula as we are awaiting another sleep study to see if he needs a C-Pap or Bi-Pap.
11) Extented Linear Growth means He is a very very large boy. he started to over-grow starting at 8 months. He was always off the top of the growth charts for his age in height and in weight he has always been in the 95-99% or higher area. He also has 'Macrocephaly' his hat size is larger than mine. his metabolisum is almost non functional and so is on a exceedinly limited diet. 600 calories a day is what we aim for!!!!
12) He needs OT/PT/SpeechTherapy. He has moderate developmental delays.
So with all this I keep him as healthy as possible. This year he started Kindergarden. We homeschool.
Oh, a little 'back story' Our Car broke down back in November last year and was towed to our mechanic. sometime in late August early Sept. the mechanic closed shop and took our car with him. so we walk to all our errands.
On the sunny side we live in a wonderful housing complex. with many amenities and we make use of the pool almost daily.
On top of all this I run a online support page and awareness page both on Facebook and I have finally after years of searching been contacted by 3 other families that have children with POMC. they are all in Europe.
I am not sure if I left anything out...there is just so much going on.
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