It’s Neurofibromatosis Awareness Month

Did you know? May is Neurofibromatosis Awareness month!

infographic says: did you know? may is neurofibromatosis awareness month (may 1 - may 31)

For Neurofibromatosis Awareness Month, I’m going to share a brief overview of what NF is, the unique challenges that patients with NF face, and how we can support the NF community. I also share a short story I wrote about my experience supporting my late sister’s heroic battle with NF.

infographic: what is neurofibromatosis (NF)?

What is neurofibromatosis (NF)?

NF is a rare genetic disorder that causes tumors to form in the brain, spinal cord, and nerves.

  • The tumors appear to form abnormal cell production and can be underneath or on your skin.
  • Most tumors are non-cancerous, although some may be cancerous.
  • NF occurs in both sexes and in all races and ethnic groups.
  • Once diagnosed with NF, it can be passed along to children.
infographic: the 3 types of neurofibromatosis

There are 3 types of NF

NF1 causes skin changes (cafe-au-lait spots on the skin and pea-sized bumps under the skin) and deformed bones. Usually starts in childhood. Sometimes the symptoms are present at birth.

NF2 causes hearing los, ringing in the ears, and poor balance, sometimes starting in the teen years.

Schwannomatosis has been recently identified as a third, very rare form of NF. Symptoms, which is are not consistent with NF1 or NF2.

infographic: what causes neurofibromatosis? how is neurofibromatosis diagnosed? can neurofibromatosis be avoided?

What causes NF?

You can get it from your parents or from a random gene mutation. If you have the condition, you can pass it on to your children.

How is NF diagnosed?

A doctor will examine for at least 2 of the disorder’s classical symptoms (tumor appearance, size, and location). A doctor may also do blood or genetic testing, showing any defects. An X-ray, CT scan, or MRI may be done to check for tumors in and around any nerves. If a doctor suspects you have NF2, they may do hearing tests.

Can NF be avoided?

NF is not avoidable, but you can have genetic testing to see if you carry the gene.

infographic: living with neurofibromatosis

Living with NF

Although NF doesn’t have a cure, it often doesn’t affect the length of life. It is a disorder in which symptoms worsen over time. Most people who have a form of NF need ongoing treatment to help manage related conditions, which can include:

  • congenital heart attacks
  • vision problems
  • speech problems
  • learning disabilities
  • cosmetic deformities
  • impaired muscles
  • vertigo

The social and mental aspects of NF can be hard. The condition may keep you from leaving the house of working. A doctor can recommend counseling or therapy to help manage the emotional side-effects of NF.

infographic: support neurofibromatosis research

What can you to help?

Support NF research! Visit http://www.nfnetwork.org/

The Neurofibromatosis Network is the leading national organization advocating for federal funding for NF research and building and supporting NF communities.

ADDITIONAL resources (PDF brochures and booklets)

For neurofibromatosis (NF) awareness month, it’s appropriate to spread as much awareness of this condition as I can. My late sister Sandra, who battled with NF1, lives on through this short story I wrote below.

The story of Sandra, a real-life angel

Sandra is color. Bright, eye-catching, vivid color. Her eyes and hair are coffee brown (she likes coffee), but her soul is flashy and rich. The first thing people notice about Sandra is her soul.When she walks, her spirit radiates waves of serenity and peace — people can’t resist turning their heads. Her angelic heart spreads throughout her soft skin, her prime health, her smile-creases (around the eyes and mouth), her giggle. Sandra is strength, clarity, warmth, and movie-theater popcorn. Sandra is thirty-two, and she is my sister.

She and I go to France every summer. We wake up before our alarms ring and sneak out to the farthest boulangerie and buy warm, crunchy baguettes. Sandra won’t eat the ends because they hurt her teeth. I don’t eat the chewy insides; I like the crust. We are fluid and we connect and our likes and dislikes merge into one perfect being. We are unity, inseparable-ness.

Sandra is loved — oh man, she’s loved. She is starting to getting bumps on her skin, many bumps, of many different sizes, so I think they are bumps of adoration — one bump for every person who loves her. Bumps of strength. She always tells me to have tough skin and to not let anyone hurt me without my permission.

She is getting tough skin herself, now. There are a lot of bumps. She is smiling less frequently. She comes to visit my parents and me twice a week; she brings vanilla sugar cookies but doesn’t eat them, only offers.

Today is Sunday morning and I smell flowers, medicine, wet dogs, and breakfast. Mom, dad, and I are visiting Sandra in her new hospital room. She and her glowing, strong, bumpy skin are in 6870 and my mom, after worriedly talking to a nurse, tells me our France trip “isn’t possible anymore.” I feel confused, betrayed, angry, hopeless. I walk towards Sandra (towards Sandra’s hospital bed, which is covered with light-blue pills and iPhone cords) and she tells me her bumps are not a good thing. That I need to be ready. That I need to be strong and that I need to remember her always.

My head spins; my stomach tightens. My heart is about to burst and I flee the suffocating hospital room. What is going on, I think. Our trip is canceled and Sandra’s bumps are bad and I won’t ever sneak out to buy baguettes or swim in the salty beach with her again. My toes shake with anger and my body bloats with frustration. I cannot — will not — accept this. I feel a heaviness on my shoulders, sinking me to the floor. Pause. Breathe.

Reality blurs and I become a spectator in the steamy battle between anger, vengeance and forgiveness — two against one.

I decide to root for forgiveness; the opposing team looks too heavy. I resolve to make Sandra and I’s hearts the happiest and purest they can be while they are both present, and to forgive her for leaving me alone in this world for however much longer I remain.

I bring Sandra memories and love and good jokes and emotion because she says nothing tangible matters. We play Uno and I try to let her win but doing so brings out the opposite effect.We sit together on the small twin-size mattress and say nothing; we appreciate each other’s presence and feel at ease — our toes relax. We forget the tragedy we have been cursed with.

She smiles and I feel warm looking at the creases beside her watery eyes. Her skin bumps have a competition with her soul for which can become the biggest; her soul wins by far.

I walk into room 6870, smell chocolate croissants and see Sandra curiously reading a magazine, drinking black coffee. Her goodness penetrates through her body and I am reminded of her heavenly soul.

The bumps have gotten worse; Sandra tells me there is one really super large bump on the side of her brain now. Sandra, my Sandra. My beloved, strong, glowing, invincible, movie- theater-popcorn-eating Sandra tells me she wants more than a life in pain. She says that living in pain and frustration is pointless, is not a life.

She doesn’t come with me to France this Summer (my mom says Sandra would still have wanted us to go). I still wake up at 5:30 and walk through the yellow sleepy morning until I reach the boulangerie. I buy two baguettes and eat four ends; I eat the fluffy insides as well.

The world is more colorful now. I close my eyes and see rainbows and see laughter and see sunlight and see memories and see angels.

There’s a stranger in 6870 now — Sandra moves into too big a room for it to be on Earth. She walks a steep incline and traverses worlds lightly, humbly, gracefully; the other angels can’t help but turn their heads.

For some wellness reading, check out this page!

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