Our Tough Little Guy

Sorry it has been so long since I last wrote. Spence has been using his camera at work lately and so I don't have any up to date pics of Stone, besides some really cute ones on my camera phone. For those of you who don't know at nine days old Stone was diagnosed with C.A.H. The acronym stands for Congenital Adrenal Hyperplasia. I wrote a long blog all about how we found out and our experience at Primary Children's and I thought I saved it but I didn't. To make a long story short we had no signs of Stone being in "adrenal shock" that we knew of at the time. We were contacted by the utah department of health about a abnormal blood test that showed up when they screen for a bunch of different disorders. We "hoped" it would be a false positive so they asked us to go and get another test. No call back that day, which we should have. After a very persistent husband we were able to contact our doc after hours, he said he didn't know too much about the disorder but that we could check his sodium and postassium levels the next day. Spence and his dad gave him a blessing that night that Stone would be okay, not necessarily that he would not have this disorder. Anyhow that night I had little sleep and I was pretty much a wreck watching my newborn get poked and prodded a billion times. In his foot twice in his arm once and finally from a vein in his head (after they poked his head three times). Anyhow his potassium was high, sodium very low and he lost over 1.5 pounds and was dehydrated. So we rushed him to Primary Children's Hospital N.I.C.U. I was all cried out by that time, and we knew we were in great hands. We had about 10 docs, nurses, etc around our baby. We felt like we were on an episode of house. There they told us that he did in fact have this disorder. Oh, he also had jaundice, so the poor little guy had to be under the bili lights and wear little sunglasses which he took off about every five minutes. Luckily we were only in the n.i.c.u. for less than two hours. We felt so calm and positive and were even joking around with the docs and nurses. I felt so bad for all these babies who have probably been in the n.i.c.u. for a while. It broke my heart, and here our baby is outta there so fast. We met with our endriconologist and she broke the disorder down for us in english. In a nutshell, our bodies produce three different hormones cortisol, aldosterone and testosterone. We need cortisol and aldosterone to survive. Stone's body blocks the production of cortisol and aldosterone which leads to a mass production of testosterone. Years ago people did not find out until there kids hit puberty at a super young age like 8 or 9, and they ended up being very short and could have other problems like being sterile, severe acne, excess body hair, moodiness, and anxiety. And unmedicated they couold go into adrenal shock and die. So when Stone was born the extra testosterone lead to him being hyperpigmented (darker) on his nipples, scrotum, and armpits. We had some med students come marvel at our sons bodyparts, so they can see the signs at birth...it's sort of rare one in 15,000. Anyhow Spence and I were both carriers of the disorder. We have a 25% chance of everytime we get pregnant our baby could have C.A.H. Girls have more issues so I am so glad we had a boy first. I can get amniocentesis next time I get pregnant to test for the disorder and begin treatment from the womb.
Stone is doing very well now. He has to be on medication for life, but it is totally manageable. He can live a long healthy life. He was getting blood draws twice a week and now it is down to one and then every two weeks. He has never cried during his blood draws and he is really good at taking his medicine. He is such a fighter and has such a strong spirit and body already. We are so blessed. He almost weighs 11 pounds now. I love his chubby cheeks. Anyhow probably noone read this because it is so long, so I will just try to post more updated pics with minimal to no commentary from now on.