Nurses,Doctors,and Researchers

extra alanines to the polyalanine tracts in the PHOX2B protein. This type of mutation is called a polyalanine repeat expansion.


What the heck does this mean??? OK so I do know what the above two sentences mean. However 11 years ago I wouldn't have, and neither would have anyone else at the time.


 In 2003 independent research efforts in France, the US and Italy confirmed the key role of a de novo mutation of the PHOX2B gene in over 90% of CCHS cases.


This is truly what happens when you have a special needs child. You find yourself in your spare time researching, researching and researching.Without formal education, we could become board certified in neurology, endocrinology, and pulmonary.

Why you ask?? Why do we do all of this hard work when we all have tons of specialist? I mean what is spare time really when you spend most of your time trying to keep your kid alive?

Because, to us our special children are indeed "special" to us, and we see ability when the world just sees the "DIS" 


It does not matter how hard we work, how many sleepless nights we have, how many social engagements we will never go to.  WE will do what ever it takes to make sure we get what our children need to survive, and to flourish

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Royal Mail pushing the envelope part II

I know I have been talking about Mighty Z starting desogestrel as a possible cure for CCHS (Congenital Central  Hypovenitlation Syndrome) and how that I am excited yet nervous to start the drug.

We have been working towards this for well over a year and every step closer we get the more excited and yes nervous I get


I have been having "issues" with being able to get it. Not that my doctors have not been supportive of it just that it is hard to physically get.


I first asked my Aunt who has family in Canada to help me. She was very excited to be part of helping Mighty Z get the medicine, but we found out that you can not get it in Canada so back to trying to figure out who to go to for help.

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So after much prayer and thought I remembered my sweet sweet friend in England. I sent her the prescription and her doctor had it filled for Mighty Z. God truly works in crazy was.


So whats next you ask? well so I emailed both Endocrinology and Pulmonary and told them I have the drug and so we need set up a time to do a baseline on Mighty Z. I don't know if they want to do this as an outpatient or an inpatient so we wait and see. Hopefully the doctors will get back to me on a date tomorrow.


UGH I hope I can sleep tonight..................

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