Can you say neurofibromatosis? Speak up

Dara Squires
Published on May 11, 2011

There is no pink merchandise or red ribbons. There are no daffodils to buy or sell or relays to run.

You won’t get cards or coins sent in the mail, pleading with you to accept this “gift” and donate.  Nor will you see a telethon or a major advertising campaign.

All in all, neurofibromatosis is a pretty quiet disorder. It doesn’t register on most people’s radar. Certainly before my son was diagnosed I had hardly heard of it.

And yet, for those with the disorder it is anything but quiet. Even in its mildest form, it makes itself known. Café-au-lait spots — essentially large birthmarks — announce their presence on the infant child.

As the mother of a child with this disorder I might spend minutes scanning his skin, looking for new marks and trying to read them like tea leaves to divine his future condition.

And yet, at other times, I might also forget that he’s “different” at all and be surprised by the attention a flash of his skin may bring.

Learning how to answer questions is a big part of coping with neurofibromatosis. For many the disorder is cosmetic only: spots and bumps on their skin, maybe a mild curve to their spine. Those with many “bumps” expect the stares, though they never get used to them. Employers, friends, lovers will all eventually ask why they look that way. They can only hope their answers will be enough to keep prejudice and judgment at bay.

Those with only the cosmetic effects, though, are the “lucky” ones.

For many others the disorder is self-evident in their different style of learning, or their social ungainliness, caused by the nerve-damaging effects of the disorder. Those with the Type-2 disorder expect to go deaf or possibly lose motor control. For yet others, it causes immeasurable pain. Or death.

It’s not quiet at all, really. Every time my son complains of pain in his feet or squints his eyes, it roars its ugly voice in my ears  — the voice of doom and dismay.

But then again, I’m the only one who hears that.

Maybe last year you read my column on neurofibromatosis Type 1? I wrote it exactly a year ago, in recognition of May as Neurofibromatosis (NF) Awareness month. Probably you’ve forgotten it by now. Or maybe you vaguely recall that my son has “something.”

May is here again, another year, and the public face of this disorder is as quiet as ever. No one will ask you to state some strange personal detail as your Facebook status in order to “raise awareness” of the disorder. And you won’t be asked to donate through a door-to-door campaign, phone calls, or telethons.

But every day, those researching this disorder under the limited funding available are making amazing discoveries.

And their discoveries help not just those with neurofibromatosis, but those that suffer from other diseases and disorders as well. One researcher, investigating the pain models of some neurofibromatosis tumours has discovered a relation to the “phantom limb pain” that many amputees suffer. Models of treatment could be the same for both.

Others have discovered reasons for and treatments for particular cancers, vision loss, neurological disorders and more.

The scariest thing about neurofibromatosis is the way it can affect an organ or body system at any time. But that’s also the silver lining on the cloud when it comes to research. Proper identification of the disorder, gleaning of the causes of certain symptoms and effects, and research into treatments will benefit not just the 10,000 Canadians who have this particular disorder, but many others as well.

They may not have ribbons, or flowers, or pretty merchandise to sell you, but the organizations such as the Children’s Tumor Foundation and NF Canada that do raise funds for neurofibromatosis research and education have the promise of a healthier world to offer.

Not just for my son, or the others with neurofibromatosis, but for many people suffering from many symptoms, diseases, and disorders.

It’s time to stop being quiet and start talking about neurofibromatosis.

It’s time to start asking for more money for more research and more education.

Will you speak up?