Sep 23, 2008 Latest post:
Sep 24, 2022
Welcome, my name is Noah. I was 6 mths in my moms' tummy when I was dx by ultrasound and x-ray with a genetic disorder called Rhizomelic Chondrodysplasia Punctata. Around 75% of kids with RCDP survive the neonatal period. I am one of the 10% of those kids that have lived past 10yrs.
I don't look like it but I am 13 years old! At the time I was born very little was known about RCDP. My family was told I would die at birth or close after. But, when I was born I surprised everyone with a short 1 week stay in the NICU. My biggest problem was learning to eat and breath at the same time. I went home with a nasogastic tube (a tube in my nose that went to my belly) for my parents to give me milk through. It took a few years but I finally learned to eat all I needed by myself. Now I eat pediasure on demand by a bottle. I only use the NG tube when I am sick. Sometimes I have to use it to get yucky medicines that I refuse to take and will spit out! Typical to RCDP, I have not grown much since I was born. I am now approximatly 18lbs and 27 in long.I have shortening in my upper arms and upper legs. I use to be able to use my hands and feet but that stopped when I was 3 and having lots of seizures. I also use to be able to babble mama and started to make the dada sound.That stopped at 3 yrs also. At that time I was diagnosed with C-spine stenosis and it was discovered that my vertebrae would occasionaly slip over eachother and temporarliy occlude my spinal cord, causing my spastic seizures. Dad and mom opted not to have corrective surgery due to the fact that our Dr. felt he would most likely cause more harm than good. Those episodes stopped happening as suddenly as they had started. We think it was prayer! Over the last 2 yrs I have started haveing infrequent short seizures. I have had other surgeries, for cataract correction, hernia repair, ear tubes, and tooth extractions. I contiue to have ongoing MRSA infections in my right ear. I get sick often with respiratory and viral infections. I have had RSV, collapsed lungs and pneumonia several times. Due to the stenosis (we think) I have problems regulating my body temperature so I tend to overheat quickly. This year I started having pain in my lower back. I have medicine patches that help relieve it. Certain positions help also. I had reflux for my first couple of years but I have since grown out of that. My skin is very sensitive and I tend to break out easily. I use to have dermatologic allergies but those too seem to have gone away. I spend my days with my family at home or with my school family. I have a younger brother Isaiah and a younger sister Alayna and a puppy LouLou. I have my own "set of wheels" and ride the school bus to our state school where I hang out doing cool stuff with my teacher Ms. Trisha and the other great staff. At school and home I like to listen to music, watch light up toys, balloons,and people and being held and kissed. I am happy most of the time but I can cry when I need something. I have a beautiful laugh and smile and love to share it.