Thursday, September 8, 2011

Contours of Fear: What do you know?

Day 28 of my 30-day challenge--inspired by a TED talk--to share on fear.

Chances are you have never heard of neurofibromatosis or NF. Perhaps you’ve seen someone with bumps on their face, head, skin, and body, bone abnormalities, loss of vision or hearing, or a droopy eyelid. The manifestations of NF are numerous, random, and scary. They also vary in each individual case. I wait for science. God waits for me.

NF affects populations worldwide and can occur in any family. In the U.S., over 100,000 Americans have NF, making it more common than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s Disease combined. NF has three main types: NF1, NF2, and Schwannomatosis. Separate genes on different chromosomes result in these distinct types of NF. The most common type, NF1, involves chromosome 17. “NF1 is the most common neurological disorder caused by a single gene; occurring in one in every 3,000 children born” (“Facts & Statistics,” Children’s Tumor Foundation). I wait for science. God waits for me.

NF affects the skin, bones, and nervous system. How so? “The NF1 gene codes for a protein called neurofibromin. Normally, neurofibromin interacts with and regulates the function of another protein called Ras, which promotes cell division. The NF1 gene is very long (8,454 bases to be exact!) so mutations in the gene sequence are frequent. Mutations in the NF1 gene can produce a neurofibromin protein that is unable to properly interact with Ras and regulate its function. As a result, the Ras protein is more active than usual - causing the cell to divide more often” (“Neurofibromin Activity In A Cell,” Learn. Genetics, University of Utah).

See what happens under a virtual microscope as mutant neurofibromin proteins try to interact with the Ras protein in a cell. I wait for science. God waits for me.

Neither my husband nor I have any indicators of NF. We have no history of NF on either side. Our two-year old son, however, received a diagnosis of NF1 at age six months old. Half of NF cases are inherited from an affected parent. Half are the result of a new gene mutation or deletion. Doctors tell us that our son’s NF1 is the result of a random mutation or deletion of the NF gene on chromosome 17. As of yet, no drug therapies are available to treat our son. Surgery proves to be the only option to treat his bone dysplasia in the skull, brain tumor, and left eye. I wait for science. God waits for me.

People with NF tend to have learning disabilities and/or developmental delays. Our son Tito is delayed in motors skills (between 9–14 months behind) and has been in occupational and physical therapy for over a year. A few months ago, Tito began to fall behind in one of his strongest areas—speech. My journal entry from May 27, 2011 reads:

“Today I learned that Tito is delayed in speech and language, both receptive and expressive. He is also delayed in his eating, biting, and chewing skills. It is hard news to take. I’ve been in this state of fear and worry over my son so many times before. Dear Lord, you provide what doctors cannot: continual presence, guidance, peace. Please help my son, help me, and help Papi.”

I look at my son and think, wouldn’t it be nice for him to be on the other side of all this? I wait for science. God still waits for me.

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