Palm Trees & Dragonfly Dreams

September 17, 2014 at 8:59pm This is a 'little Note' for all of our new followers... 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...

February 2, 2014 at 1:11pm Nate Update: today is a VERY difficult day. Nate has been extremely vocal about his food seeking. I have been checking the clock. He teases for food EVERY 10 MINUTES! I have to stop looking at the clock! stop looking! It does not help. It does not change. I try my hardest..day in and day out, I TRY to be positive and upbeat and look for the slimmest of silver linings. and THEN there are days like today. *TEARS AND HEART-ACHE!! I have to force myself to be firm, almost yelling at him...NO....No....no.....no, sorry...nope....not yet....not now....no...later...soon buddy....no....and if I get too loud...the TEARS COME!!! and the 'can I get a HUG Mommay?' OF COURSE you can get a hug buddy. :'( and I hear: is it wunch time mommay??? is it snack? but mommay...I NEED...I hungwy mommay....mommay my tummy is grummbly...can you hear it mommay??? is it time to eat??? can I have an apple mommay, how about some raisins??? is it s...

     Island life   I really don’t know how much I truly have to offer someone, how much comfort can a struggling, broken, single mother really give?!?!? But I keep sharing our journey and I keep writing because I must. But you see we live on an island. It is called a rare genetic disorder, it is called a genetic mutation, it is called an orphan disease because there are less than 50 in the whole world. It is dangerous. It is my life.  I call it POMC Island.  I landed here in 2010 May 6 … flat on my face. At first I was numb I did not feel anything I did not think about what this all really meant. I did not research anything I did very little reading. But then the storms came… Oh how the storms ravaged, and for oh so long I could only cry and mourn. Then ever so slowly and cautiously I reached out… I went thru the stages of loss and grief of denial and acceptance. It was not easy. And I still have all of these feelings and...

Dear Karen,   My apologies for not responding sooner. I am working in Leiden University Medical Centre as clinical biochemist. I have been involved about 10 years before in one case of complete POMC deficiency. I will forward your great initiative to some of our pediatricians, who have been involved in the past with that patient. I am not sure whether these parents want to be in contact. They were not from Dutch origin and did not speak Dutch very well. They no longer visit our hospital anymore. I  think they now irregularly see a pedeatrician in Rotterdam or The Hague. Maybe our pediatrician can help you passing on this information to the parents through her colleague in Rotterdam.   I think Patricia's daughters are not being treated in Leiden University Medical Centre, because otherwise I would have noticed their laboratory results.   Best regards and good luck with your crusade to spread as much information on this subject amo...

Just the other day I was talking to a good friend of mine and I said something that reminded me that I was going to blog about what has been going on here on our 'Island' or in this case, NOT happening.... Then end of August saw Nate pretty sick, in fact last year he was sick almost all the time. It was horrible for both of us. I am very please to say that for the last 4 months Nate has NOT been sick! wow!! It is wonderful, but how is this??? Nate no longer goes to the daycare center (this is with mixed emotions for sure!!!) He is home with Mommay 24/7 When Nate went in for his T&A and tubes in his ears he was still fighting off his chronic ear infection and after the operation he spent 2 rough nights in the PICU. He went into crisis right after the operation as I feared he would. Then when we got home he fought for his health for another 2 weeks. It was the longest stretch of being sick to date..over 26 days straight of sick Goober-Fish and stress d...