Palm Trees & Dragonfly Dreams

you know, we all have heard that phrase... but what does it mean? Doctors brainstorming ideas? lots of technicians in lab coats bent over their studies?! yes. Fundraisers and Walks and hundreds of people wearing matching t-shirts? Ribbons on your shirts, wristbands for all?! yea, sure it means all that..... but what does it mean to us on POMC Island????? Well for me as Mommay it means going to The National Institute of Health (NIH) to have Nate participate in a clinical study. We will see quite a few doctors and technicians and he will be poked and prodded and have x-rays and they will draw some of his blood. Am I looking for answers to and about POMC...sure. I always am...after all THAT is my life, my heart, my reason for looking. BUT I am hoping that Nate will PROVIDE some answers...who knows...there may be something so very simple in his gene structure that someone will see and think...HEY! look at that! THIS is why such and such happens. and there ya go......

when do you know your at the end of the proverbial rope? when do you tie your knot? When do you wake up in the morning with tears already formed in your eyes. What is your breaking point? Have you been there? how do you rise up? how do you pull yourself up by the bootstraps and take that next step? Me???? I really have NO idea. because I live on this island I now call those things my 'waves' you all have seen my posts about riding the waves that come my way...well here is another wave.... I am secretly glad you cannot see my crazy face as I am crying away madly when I type and pour my heart out.... think back to when you were a child and someone pushed you high and fast on the swings...OH how your heart raced and your blood pumped and you were scared! and yet you dealt with it and did it again. wow how brave you were! What about the first time you rode a roller coaster? that first dip took your heart right up into your mouth didn't it?? then the ...

When babies are born they cry to be nursed (and nurtured) Nate was no different in that respect. Nate cried because he was HUNGRY . and I tried and tried to make that painful cry stop. you know that cry. I know you do. the cry when a newborn is hungry the cry when you toddler wakes up and is hungry that deep in my belly because I am starving mommay.... the hungry cry Nate has fought this and other battles his whole life. And sometimes I can only just 'ride the wave' of pain I feel in my heart This month is a new milestone. and I am torn, do I celebrate or do I cry? This month my child that has been HUNGRY FROM BIRTH STARVING yes UNSATISFIED HUNGER is  NOW ABLE TO  TELL ME!! 'MOMMAY, I HUNGREE, I WEEAWLY WEEAWLY HUNGREE." *tears, as my already broken heart cracks again from the pain of the word.... HUNGRY

Hypothalamic–pituitary–adrenal axis From Wikipedia, the free encyclopedia Basic hypothalamic–pituitary–adrenal axis summary (corticotropin-releasing hormone=CRH, adrenocorticotropic hormone=ACTH)The hypothalamic-pituitary-adrenal axis ( HPA or HTPA axis ), also known as the limbic -hypothalamic-pituitary-adrenal axis (LHPA axis) and, occasionally, as the hypothalamic-pituitary-adrenal- gonadotropic axis , is a complex set of direct influences and feedback interactions among the hypothalamus , the pituitary gland (a pea-shaped structure located below the hypothalamus), and the adrenal (also called "suprarenal") glands (small, conical organs on top of the kidneys). The interactions among these organs constitute the HPA axis , a major part of the neuroendocrine system that controls reactions to stress and regulates many body processes, including digestion , the immune system , mood and emotions, sexuality and energy storage and expenditure. It is the common m...

  in Genetics Using genome-wide analysis, investigators at the Sainte-Justine University Hospital Research Center and the University of Montreal have potentially eliminated a lifetime drug prescription that two children with a previously unknown type of adrenal insufficiency had been receiving for 14 years. Over a lifespan, the adjustment in treatment represents an approximate saving of $10,000 in drug and test costs per patient. Moreover, the less invasive treatment regime can potentially reduce the lifetime risk of hypertension in the patients. "This is a real case of personalized medicine made possible today through the use of novel techniques in genomics," stated Dr. Mark Samuels, lead author of a paper published on the subject in January 2013 in the Journal of Clinical Endocrinology and Metabolism. Dr. Johnny Deladoëy was the senior author of the article. Fourteen years ago both children were diagnosed with adrenal insufficiency, a con...

I have kept this news close to me because it hurts but I have yet to fully to process it...... I now want to share with you all some not so good news. As many of our fans themselves deal with a RARE of their own they may be familiar with the group "Unique" out of the UK. it is a great group and very informative. They have families from all over the globe register their RARE chromosomes and it's a great way to find other families that share the same issues. (I am not a spokesperson for them...) That being said, as was suggested quite a few times  I too send in our info, in the hopes that we may finally connect with SOMEONE. ANYONE. that has POMC. they ask for the basic info which I sent, as well as a picture of the Goober-fish. this is the first e-mail I got back: Dear Karen Many thanks for your email and telling me about Nathaniel – including the gorgeous photo! If at all possible, would you be able to send a copy of his lab report? Or copy ou...

Allelic variants.0001 PROOPIOMELANOCORTIN DEFICIENCY POMC, GLU79TER In a 3-year-old German girl with early-onset obesity, adrenal insufficiency due to ACTH deficiency, and red hair (609734), Krude etal. (1998) identified compound heterozygosity for 2 mutations in exon 3of the POMC gene. A 7013G-T transversion in the paternal allele resulted in a glu79-to-ter (G79X) substitution. Truncation of the POMC protein atcodon 79 predicted complete absence of ACTH, alpha-MSH, andbeta-endorphin, encoded further downstream. In the maternal allele, a1-bp deletion (nucleotide 7133) caused a frame shift predicted to disrupt the structure of the receptor-binding core motif of ACTH and alpha-MSHand introduced a premature termination at codon 131. Compound heterozygosity for these 2 mutations was found not only in the proband,the second-born daughter of the family, but also in the first-born son who died at 7 months of age of hepatic failure following severe cholestasis...