Liam's Doctor's Visit

So, a few days ago I posted an article on birthmarks just because they were on my mind. I started doing some research and when I came to the research on cafe' au lait spots, those slightly darker random shaped markings, I realized that Liam has several of them. Many of the pages suggested contacting your pediatrician if your baby has more than 5. When I stripped Liam down, he had 14 in all so, I was worried out of my mind. The next morning I called the dr. and scheduled an appointment for this afternoon. Cory came home to take Liam and I stayed home with the monkey. It turned out that the little stinker had a sore throat and an ear infection!! Just like Josiah, Liam rarely cries these days and has become a mellow happy baby so, it is impossible to tell if he is sick unless he is coughing or snotty. Josiah constantly had ear infections as an infant until he got tubes put in his ears a little after a year old, but we often had no idea he even had one until going to a check-up. My boys are just like their Papa in that aspect- never complaining and happy go lucky. Also, the doctor confirmed that Liam exhibited several symptoms of neurofibromatosis. There are several signs and symptoms of neurofibromatis in addition to the cafe' au lait birthmarks:

Sleeping soundly through his brother's loudness

 (There is one cafe au lait spot to the left of his belly button, right on the side.)

1. two or more neurofibromas (they are like cysts that grow on the skin and on nerve endings)
2. freckling in the area of the armpit or the groin
3. two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas);
4. a tumor on the optic nerve (called an optic nerve glioma)
5. abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin);
6. a parent, sibling, or child with NF1.

The doctor found that he had the freckling in his armpit and I am pretty sure there is a spot on his groin, too. His head also measures big, in the 90th percentile, though the rest of his body is much smaller.
Although neurofibromatosis is a genetic disorder, in 50% of cases it occurs when no known relatives have had it. No one in our family had it before, but that apparently means nothing. I also had an amniocentisis when I was 15 weeks pregnant, but I don't believe they tested any genetic disorders, only chromosomal. I will definitely find out tomorrow.
Nothing is definitive yet, but all signs point towards Liam having this genetic disorder so far. Liam has beaten the odds so many times already that it's hard to believe he really has it so, only time will tell. When I had my first ultrasound I was told Liam's neck (or nuchal translucency) thickness was well above average, a very good indicator of Down's Syndome or other chromosomal issues or a heart defect. After weeks of waiting, seeing a specialist and finally getting an amnio, results showed that Liam was just fine. What a relief that was! So, after thinking I was miscarrying, thinking something could be wrong,  having placenta previa, then having a placental abruption and delivering early, Liam's lungs not being fully developed and having to be intubated, and him showing signs of hearing loss and being just fine, I have to believe in miracles. My little man has been through so much already that even if he has this I know he will be just fine. We will support him in any way possible. If he has learning disabilities, other disorders, cancerous growths, or any other possible symptoms of neurofibromatosis, we will deal with them. I'm just happy he's here with us today and am thankful for each and every moment I get to spend with my boys. All of this definitely makes me rethink the possibility of returning to work in the near future! We'll revisit that thought this fall.
Anywho, I'll keep everyone updated on the prognosis. We were given a list of neurologists today and I will make an appointment in the morning. Hopefully we can get the genetic testing done asap! I don't think I'll sleep a wink until I know for sure.

In his jumparoo for the first time this week! He didn't know what to think!