My son, Ali, was born about three weeks early because I had symptoms of preeclampsia at my 37 week OB appointment. When he was born I noticed his tongue would stick out when he slept and he had an awful latch for breastfeeding. (I started pumping and ended up exclusively pumping after he came home) He also had reddish marks on his forehead and the back of his head. I hadn't picked a pediatrician yet and so he saw three pediatricians on staff during our stay. They all assured me that his birthmarks were just stork bites and that they'd fade with time.
I picked a permanent pediatrician before we were discharged and we saw them for jaundice followups for his first week. The second time we visited the office we saw a new pediatrician who thought his birthmarks could be port wine stains and he wanted us to follow up with a dermatologist. On a different visit another pediatrician recommended we do an ultrasound (which we had done the following day) because she couldn't palpate his spleen.
I consulted Dr. Google and realized that they suspected Sturge-Weber and my heart dropped. I couldn't wait to see their dermatologist and I made an appointment a day later at an independent dermatologist's office. He assured me he didn't think the birthmarks were port wine stains but asked if I wanted him to send the photos to his colleague at Children's Hospital for a second opinion. I consulted Dr. Google about disorders associated with stork bites and first heard of Beckwith-Wiedeman syndrome. Of course I said I wanted a second opinion. We also saw the dermatologist his pediatrician recommended and she told us that this might just a be a "zebra" diagnosis but she wanted us to follow up with genetics in about three months.
The first dermatologist's colleague suggested we follow up with genetics and the optometrist because of the location of his birthmarks. Genetics at Children's Hospital was able to fit us in in June, otherwise we'd have to wait until August and I was too riled up to wait.
The geneticist asked us questions about our family history and then she took out a tape measure and started measuring the circumference and length of his limbs. She told us that she was giving him a clinical diagnosis of Beckwith-Wiedemann syndrome. My head started to spin. Some of the information I read said 25% of kids with it would die. She began pointing out the features consistent with the diagnosis; his height for his age, his steadily increasing weight (I knew he was a bit big, he was over 7 pounds at 37 weeks but I just thought breastfeeding was going well), little pits on the backs of his ears, his umbilical hernia, and his constellation of birth marks, and apparently the limbs on his left side were a little thicker than his right. I couldn't really focus, I was worried about everything and anything. Would he get sick? Is he sick already? What did we have to do? We were given a prescription for blood work so they could run genetic tests to confirm the diagnosis and to measure his alpha fetal protein levels--that would tell them if they should check him further for cancer.
I was a wreck. We struggled for three years to conceive him and I had a normal pregnancy but I worried the entire time about something going wrong. I thought the preeclampsia was the other shoe dropping but apparently not.
The genetic results came back and showed that he did have the error on chromosome 11 but in a place that lowered his cancer risk to 3%. His geneticist is incredibly nice and stayed on the phone with me for close to 40 minutes explaining the results to us and what they mean for him. She reassured us that the mortality rates online are from outdated information.His diagnosis won't have any impact on his mental development, although whenever we tell someone that he has a genetic disorder, that's what they assume. She told us that he's going to be a big kid. Even now he's above the 95th percentile for height and weight. He's the size of some two or 3 year olds at 11 months.
His AFP levels have been consistently dropping (as they should) and his ultrasounds have been coming back clear. Sometimes I forget about it until his next tests are due. It doesn't matter how healthy he is, whenever you're having him tested to see if he's sick, you start to worry that maybe this will be the time they tell you that you're right and there is something wrong. I'm grateful that everything has been coming back clear so far and I dutifully take him to have his blood drawn every six weeks and every twelve weeks for an abdominal ultrasound.
It's not part of our every day but it's something that doesn't actually go away.
They tell us that he won't need the blood tests after he turns 4 or the ultrasounds after he turns 8. We can't wait.
To read more about Ali and follow his blog, please visit: http://www.justiceofthepeas.net/bws/
Part of the reason I started this blog is that I wanted to record the baby gear, clothes, etc. that worked for Ali because I didn't have any guidance about raising a kid who doesn't follow the growth chart. Hopefully this will help someone else in the boat of having a big bubba baby.