I was approached today and asked if I would talk about PTSD in caretakers of children with Rare Diseases. Would I mind or was it too personal or too difficult? Immediately, I said 'yes, I would do so' quite willingly even though doing so is a bad trigger and I know ahead that I will have to stop and walk away from this then come back to try and explain some more. Yes, It is very personal, quite personal in fact. And as with all things in my life it is difficult. Yet, here I am typing furiously away and here you are reading. Quite often when one hears the term PTSD one thinks of combat veterans. Well I can't compare myself with that as I've never been in the military. But I am fighting. I am fighting for my son, I am fighting for his childhood. I am fighting so that others after me don't have to feel they way I've felt. My enemy is my son's diagnosis of a rare genetic condition. I will try to make this as general as possible because I think that...
WOW how crazy is that? it's been 5 years since I posted here. I have on occasion thought about posting but never actually did. I am definitely the queen of procrastination. So, here I am once more...now officially BACK! I'm sure no one missed me as I have barely been here often enough for even Me to miss Me. I won't attempt to play catch up right now but will talk about what we are currently involved with. Nate is in Grade 8 and will be starting High School in the fall. I will as always be writing my own curriculum. One year ago in April we were coming back to Vermont from our big "van tour" of the Eastern and Mid-Central tour of the United States. that in itself is a story for another day. Let me tell you about our new home. We are back in vermont and now live in a renovated 100+year old brick schoolhouse in the greater Barre/Montpelier Area. the two most favorite things about our place that I simply love are the original hardwood floors and the 3 original bui...
My son Nathaniel has POMC he is the ONLY known person in the USA with it.... (there are less than 50 cases known in the world) Pro-opiomelanocortin Deficiency Disorder is Rare, it is considered a 'Rare/Orphan Disease' POMC affects the second chromosome = 2p 23.3 Molecular Location on chromosome 2: base pairs 25,383,721 to 25,391,558 to be exact Not every person that has POMC will or does have all the same issues. BUT This is what Nathaniel deals with because of POMC = extended linear growth and congenital hyperphagia (insatiable hunger)~a life threatening issue and congenital secondary adrenal insufficiency ~considered rare~another life threatening issue and congenital hypothyroidism~considered rare~ and yet another life threatening issue and congenital hyopituitaryisum~considered the 'brain' of all endocrine glands and congenital hypothalamus disorder~he is unable to control his body temperature~an yes, another life threatening issue and Early...
Comments
Post a Comment