Too Blessed to be Stressed; Adventures with 1p36 Deletion Syndrome.: Trying the blog thing out.. Again.

My second attempt at being a blogger, now that life has settled down for us all. My last attempt started with the news that our second son, Colt, was facing some health problems during my pregnancy. He has had a whirlwind first 6 months of life, complete with close to 10 different diagnoses, with only 1 that has held true.

During my pregnancy, he was termed "Small for Gestational Age" and I was monitored weekly via sonograph. Then, with a closer look at his heart, he was thought to have TGA (Transposition of the Great Arteries). A day later and a better look, doctors thought that his ductus arteriosus was closing prematurely, causing his heart to enlarge. With this, we were relieved because doctors informed us that inducing me was the solution and days later he'd be just fine. After birth, Colt perplexed all his doctors and developed PPHN. He was intubated for a little over a week, and was hooked to many different medications. The condition of his heart came back into play, and he was diagnosed with Non-Compaction Cardiomyopathy.

When we finally left the NICU a month after his birth, on 4 medications, we thought that we were leaving with a sweet little boy who needed a little extra attention to his heart. However, at 2 months, Colt had his first set of seizures. We were rushed to Kosair Children's Hospital and monitored for close to a week, with no answers when we left and a new medication to his list. At four months, the seizures returned and we were yet again monitored at Kosair. This time, his seizures were harder to stop, after many loading doses of his medication Keppra, he was given a dose of a more powerful anti-convulsant, Phenobarbital. This, in combination of the many seizures he had, knocked him out for over 12 hours. Very scary moment for us as parents. Before we left, he had many labs of bloodwork drawn.. And thankfully we found our answer to all his problems. In late October, Colt was formally diagnosed with 1p36 deletion syndrome. We were so relieved to finally have a straight answer as to why our baby was so sick. A portion of Colt's first chromosome was missing, or "deleted" and was to blame for his heart condition, his seizures, and his developmental delay.

After finding the true component to Colt's troubles, we were seen by a geneticist who tested our oldest son, Andy to see if he was a carrier for the deletion. As they predicted, nothing in our family line has anything to do with the abnormality.. Just a weird, medical fluke that happened during development.

Now, we have a whole list of things to look for, other things that could affect Colt in the future. So far, he is better than ever :) Although delayed in development as far as rolling over, sitting up, head control, muscle tone.. He is the happiest baby I have ever seen. He starts phyical and occupational therapy this week and I have heard that this will make all the difference! He is our little gift from God, given to our family for a distinct reason. He is going to do great things, we all know that Colt will soar in life!