Sam's health care was really a wonder to us. NF is not a well known disorder so finding specialists was a struggle. Every book we read told us to develop a team of specialists; neurologists, opthamologists, pediatric neurosurgeons, pediatric occuloplastic specialists and so on. There is no one like that here in Ocala, that is for sure.
So our closest place was Shands @ UF. We found some great eye specialists there. Dr. Kuddus was one of the first to see Sam. From there we saw other doctors at Shands. Eventually that is where we went through some genetic counseling and had blood drawn from Sam which was sent off to UAB. We should have seen that back then that UAB was the place to go.
We were then made aware of the Bascom-Palmer Eye Institute and Jackson Memorial Hospital and Miami Children's Hospital. So our next round of "outings" was down to Miami. We met Dr. Tse there while we were looking for a second opinion about a surgery, one that a doctor at Shands said he "had done a few." We were very skeptical about that surgeon. A "few" of any surgeries to not enough for our son.
We met several doctors in Miami and fell in to the care of a glaucoma specialist. Sam's orbit pressures were followed closely. I think when Sam was 3 he had a surgery to relieve his high eye pressures. We later learned that his deformed eyeball was due to the glaucoma, not any tumors. Personally I think we waited too long for his first surgery but hindsight...blah blah.
I can't remember how we learned about the NF Clinic at UAB. It may have been through Grandma's efforts and tireless letter writing. We eventually made it to Birmingham and fell in love with the team care. When we say team, I mean team.
Some of the worlds leading NF researchers are at UAB. There are nine NF Clinics in the US and UAB is the hub for the southeastern region. For us, it takes about 8 hours to get from Ocala to Birmingham and we go there about every 6 months or so. Their follow up is amazing.
Besides driving through Georgia I don't mind the trip. Sometimes our stay in Birmingham is too short so the driving there and back is a hassle. Cost is another issue but whatever it takes.
Thursday, June 25, 2009
Thursday, June 18, 2009
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!
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!
Wednesday, June 17, 2009
Just Ask
It is Neurofibromatosis. My son Sam has NF1.
Neurofibromas, the most common tumors in NF, are benign growths which typically develop on or just underneath the surface of the skin but may also occur in deeper areas of the body. Neurofibromas, which are composed of tissue from the nervous system (neuro) and fibrous tissue (fibroma), usually develop around puberty although they may appear at any age. The tumors are not contagious. Nodule-like surface tumors are known as dermal neurofibromas. Plexiform neurofibromas grow diffusely under the skin surface or in deeper areas of the body.
Sam was diagnosed with NF1 at the age of 9 months. Next week he turns 5 years old.
This blog will be an effort to help us journal his life.
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