Our son spent his first five weeks in the NICU. I can't tell you how many trips I made to and from the hospital during that time. Sometimes they let me touch him, sometimes kiss his sweet face, sometimes hold him between the tests they were running on him. I often sat outside his bed as he lie underneath the bilirubin lights since he was so jaundiced, holding his tiny fingers. I remember the first time they allowed me to hold him skin to skin, his little body on my chest. He fell asleep on me. And when they had to take him away, he cried and cried and cried. I remember tears filling my eyes as the nurse put him back in his bed.
They ran so many tests on him during that time. There were a number of other anomalies they had found and the doctors were avidly searching for an answer. With every possible test, there was a possible diagnosis. Daniel had to finally ask the doctors to only report to us concrete findings, no more "hypotheticals", as it was too much for my mind and heart to handle. I ached with every possible diagnosis.We finally were able to take him home. We were so relieved... until the reality hit. We tried every bottle possible and no matter what we tried, our baby wasn't able to take more than an ounce down at a given time, most of the time he didn't make it that far. So we learned how to tube feed him, sometimes we could leave the tube down, sometimes we had to put it down every feeding. The older he got, the more challenging feeding was. Sometimes I still get a bit jealous when I watch a baby take a bottle or breastfeed.
I took my baby in for his 3 month check-up with Dr. Bravo on April 7th. It was then that we received the news that he has an extremely rare syndrome - Simpson Golabi Behmel Syndrome (SGBS). There are currently less than 120 known cases of this syndrome. It often goes undiagnosed as it can be mild to severe in form. The more severe cases are the most studied. In most of the severe cases babies with Simpson Golabi Behmel Syndrome (SGBS) die prior to reaching two years of age, most often from heart failure or kidney tumors. We still have yet to find out the extent of what we're dealing with. My heart aches most days with the unknown.
Simpson Golabi Behmel Syndrome (SGBS) is an X-recessive syndrome. While I'm not entirely sure what this means, I know I'm the carrier of it. And this carries with it a heavy weight. I live each day knowing I gave my son a syndrome he has to live with the rest of his life, however short or long that life is. And I also live knowing he may be all I get, my one chance at biological children. I have a 25% chance of giving any other children this syndrome. I don't know if I can logically make that decision. We're not at that point yet, and honestly, it's too much for me to bear at this time.
Now keep in mind these were taken right before I went into the hospital at 32.5 weeks! Right before the C-section, my doctor wanted to take a fundal height measurement to see how big I was. (For those of you who didn't know, I had excess amniotic fluid, also known as polyhydramnios. And excess was no understatement.) Typically, a woman measures 40cm at 40 weeks. At 34 weeks, I measured 55cm - the size of a woman having triplets. Crazy. And, honestly, not very cute. (At least in my estimation.)
