Neurofibromatosis awareness month

Neurofibromatosis is the term for three distinct genetic disorders, known as NF1,NF2 and Schwannomatosis.  Each causes tumours to grow on nerves throughout the body.

Usually diagnosed in childhood, NF is a life long disorder with a variety of potential complications and variation in severity.  NF affects both sexes and all races and ethnic groups equally, and is more prevalent than cystic fibrosis, Duchenne muscular dystrophy and Huntington's disease combined.

Terri Lang's son Isaak has been diagnosed with NF1.

NF1 is an inherited disease. If either parent has NF1, each of their children has a 50% chance of having the disease, but NF1 also appears in families with no previous history of the condition.

The condition can be very different from person to person, even among people in the same family who have the NF1 gene.

The "coffee-with-milk" (café-au-lait) spots are the hallmark symptom of Neurofibromatosis.

Although many healthy people have 1 or 2 small café-au-lait spots, adults with 6 or more spots greater than 1.5 cm in diameter are likely to have neurofibromatosis.

In most people with the condition, these spots may be the only symptom.

However, other symptoms may include blindness, convulsions, freckles in the underarm or groin, large, soft tumours called plexiform neurofibromas, which may have a dark colour and may spread under the surface of the skin, pain from affected peripheral nerves and small, rubbery tumours of the skin called nodular neurofibromas.

Sarah Gorden is 26-years-old and lives in Westbank with her husband Hans and their dog and two cats.

She was diagnosed with NF2 at the age of 13 years old. She was having trouble walking and Doctors discovered her brain and spine were loaded with benign tumours, and she was diagnosed with NF2.

After surgery to remove several tumours from her spine she regained my ability to walk.

But the battle was far from over.

Two years later her left vestibular schwannoma (hearing/balance nerve tumour) had grown large enough to leave her profoundly deaf in her left ear. She underwent radiation treatment to attempt to stop further growth of the tumour.

In 2007, spinal surgery was needed to remove tumours which were compressing her spine.

The next year, in November of 2008, her right vestibular schwannoma (hearing/balance nerve tumour) had ballooned up and was compressing her brain stem.

This surgery would leave her deaf, but there was some hope.

She was sent to the House Ear Institute in Los Angeles for the surgery. Surgeons there removed the tumour and also implanted a an auditory brain stem implant (ABI). The ABI gives Sarah sound awareness and helps her to communicate with people when combined with lip reading.

Since 2008, she has been participating in a NF2 natural history study at the National Institutes of Health (NIH) in Bethesda, Maryland, USA. The purpose of this study is for the researchers to learn more about NF2 in hopes of better treatment options.

During her latest NIH visit last month, she had eight tumours surgically removed from her right arm.

She also learned that a tumour at the base of her skull near the brain stem is once again growing. It is in a risky location and has already been operated on once. Sarah is currently going through the decision process for a plan to treat this dangerous tumour.

NF2 will be with her forever. She describes it as a lifetime of waiting and watching, of MRI scans and of deciding when surgery is worth the risk of losing another function.

NF2 and the treatments and surgeries that she has undergone have left her deaf, with chronic back pain, drop foot, poor balance, nerve pain, vision loss, ability to open one eye, facial paralysis and many, many scars.

"I try to live life to the fullest, one day at a time and never give up hope that we will one day have a cure," says Gorden.

90% of people with NF2 also experience vision impairment due to ocular abnormalities, ocular tumours, brain stem compression, or facial paralysis.

The only current treatment for NF2 tumours is surgery or radiation. When a tumour is surgically removed from a nerve, the nerve is almost always completely severed, injured or removed, resulting in loss of function.  Researchers are looking into different drug therapies that may be helpful in treating NF, but it is a very slow process.

May is Neurofibromatosis awareness month, and for the third year in a row, Sarah's mother, Betty Hersey, will set up a booth at Orchard Park Mall on Saturday, along with Terri Lang to educate the public and raise awareness about Neurofibromatosis.

They will be on hand in the mall near Cleo's from 9-6 on Saturday handing out information on the condition and answering questions.

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