A Little History...

Sam was three months old when we first heard the word "tumor" from a local opthamologist. I can remember the day like it was this morning. It was terrible. A routine 90 visit with our pediatrician turned into a day of worry, panic and unknowns.

We got Sam up to Shands at UF to start seeing specialists eventually heard the term "NF" and then "NF1."

The internet can be very helpful and hurtful as you tend to learn a lot that may or may not apply to you. Regardless, we take it all in and then try to throw out what doesn't make sense. Unfortunately, it was all making sense. Sam had some of the primary markers for NF1, but not quite enough for us to know for sure.

Genetic testing proved everything. Sam has NF1.

This is from the Children's Tumor Foudation (www.ctf.org) website and I use it a lot when I describe what NF is:

"Neurofibromatosis 1 (NF1): also known as von Recklinghausen NF or Peripheral NF. Occurring in 1:3,000 births, web characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. "

Re-read that second sentence... 1 in 3,000 births.

Here is another CTF tidbit:

"The Neurofibromatoses are genetically-determined disorders which affect more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined."

That is a lot of people with NF.

We feel that we were given Sam for a reason. Fortunately we have been able to afford the best healthcare for him. He is seen at Bascom-Palmer Eye Institute in Miami (The #1 Eye Center in the US) and we travel to Birmingham, AL to go to the NF Clinic at UAB. At UAB he sees a team, a real team, of doctors. They communicate with each other about Sam's care and we are frequently surprised to go to an appointment to hear the doctor say "I was just talking with Dr. Soandso about your son." For those of you had been in the care of multiple doctors, you know how good this feels.

That is it for now.

I'd like to journal more about Sam's progression of care, since the diagnosis. There are a lot of notes to read and edit.

I'll try to be shorted winded... right!