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Boy with neurofibromatosis brain tumour defies the odds

(Reprinted from the Standard Freeholder, Ontario, Cananda)

Devon - Boy with neurofibromatosis brain tumour defies the oddsBoy with brain tumour defies the odds

Trevor Pritchard
Local News – Saturday, May 26, 2007 @ 08:00

On the rare occasions he’s not giggling or laughing, it’s apparent five-year-old Devon Payette’s speech is slightly garbled.

His bright red hair is shaved close to his skull, where he has a four-inch scar, and he stumbles slightly as he walks – possibly the result of being blind in one eye.

Still, after two surgeries in less than a month to whittle away a baseball-sized brain tumour, and being diagnosed (wrongly, it turned out) as terminally ill, the rambunctious youngster is remarkably healthy.

“God is good,” said Devon’s mother, Kim Gillet, as her son plays with his father, Rick. “We asked for a miracle, and we got one.”

Within the next six weeks, genetic testing should reveal whether Devon is suffering from a rare brain condition known as type 2 neurofibromatosis, or NF2.

Affecting one in 40,000, NF2 causes benign brain tumours to grow spontaneously along the eighth cranial nerve, which is responsible for maintaining a person’s hearing and sense of balance.

The disease is typically found in adults, and doctors and neurosurgeons have told Devon’s family that if he has NF2, he would be the youngest current patient – and the second-youngest in Canadian history – to have the disorder.

But the good news is the tumours aren’t malignant, so although Devon could be facing a lifetime of invasive surgeries, there’s little chance the tumours will spread to his other organs.

Devon’s journey through the corridors and bedrooms of the Children’s Hospital of Eastern Ontario (CHEO) began in late March. The family had noticed that Devon, who was finishing his first year of kindergarten at Sacred Heart School, had started staggering as he walked.

They took him to see a pediatrician, who ordered Devon to undergo a CAT scan.

That scan revealed what Gillet described as a large “fuzziness” in the back of Devon’s head.

He was sent to CHEO for further tests, including an MRI. The results of the MRI were shocking. There were a small horde of tumours in Devon’s head: one on his right optic nerve, a lesion on his left temporal lobe, two lesions on his spine, and a large, baseball-sized mass that, in Gillet’s words, had compressed Devon’s brain stem “down to the thinness of a sheet of paper.”

The doctors at CHEO told the family that since it looked like the tumour had pierced Devon’s brain stem, their only available option was to provide “comfort measures” for their son.

Gillet, a nurse for the past 24 years, and familiar with medical lingo, knew precisely what that meant: palliative care.

“I told the neurosurgeon that Devon would defy all the odds, and that he would be a case (the neurosurgeon) would write a paper about,” said Gillet.

On April 4, Devon was wheeled in for his first surgery to “debulk” the large tumour. Gillet was told by the surgeons that the risk of neurological impairment, or worse, meant that they’d likely only be able to get a biopsy.

But after 13 long hours, the neurosurgeon emerged with two pieces of good news. First, he said, they had been able to remove 60-70 per cent of the tumour.

Second – and more significantly – when they cut into Devon’s skull, they found that the tumour hadn’t infiltrated Devon’s brain stem.

Gillet remembers Devon’s neurosurgeon showing her the post-surgery MRI image of her son’s brain.

“I could see the space between the tumour and the brain stem,” she recalls, smiling. “I said, ‘That changes the diagnosis, doesn’t it?’ He said, ‘Yes, yes it does!'”

The biopsy showed Devon’s tumour to be a large meningioma – a common benign brain tumour that usually strikes people over the age of 60. Devon’s older sister, Krista, recalled the turbulent emotions she and the rest of her family went through in the days before and after that first surgery.

“The day before the surgery, I said, ‘I don’t know what to do,’ in pure agony,” she said. “The day -after- the surgery, I said, ‘I don’t know what to do,’ in pure joy!”

Devon underwent a second surgery on April 25 to remove a further 20 per cent of the tumour.

Krista now has a website devoted to the story of Devon’s time at CHEO and his swift recovery.

The site canbe found at http://www.geocities.com/krista_gillet/Devon.

After that second surgery, he could barely speak or swallow, and for about four days could only eat through a feeding tube. (That tube is now gone.)

While the optic nerve tumour has left Devon permanently blind in his right eye, and he faces a lifetime of surgeries to excise any new tumours, the family said he should have an otherwise fairly normal life.

The genetic testing is important, not only to satisfy their curiosity, but to let Devon know about the risks of passing the chromosome containing the NF2 gene along to his children, said Gillet.

Looking back, Gillet realizes there were signs the family missed that something wasn’t quite right with Devon.

He had occasional dizzy spells, avoided swing sets, and unlike most other children, hated being spun upside down by adults.

As a nurse, she said, she’d often counselled and comforted other patients who were facing possibly terminal illnesses.

But the support from the community made Gillet realizing that coping with her own child’s illness – something she never imagined she could do before – was, in fact, possible.

“You know what? You do (learn to cope),” said Gillet. “He’s your child. You dig down deep, and find what (strength) you need to find.”

Fast Facts: The skinny on the scourge of NF2

The less common of the two neurofibromatoses, NF2 affects about one out of every 40,000 people. Patients with NF2 generally have benign tumours growing along both sides of the eighth cranial nerve, which is responsible for hearing and plays a role in maintaining balance. The tumours, called vestibular schwannomas, can press up against neighbouring nerves, and cause such symptoms as headaches, facial numbness, tinnitis (ringing in the ears) and poor balance.

Signs of NF2 may be present in children, but are often not noticed until the early adult years. Because the disease is so rare, there are few studies that have tracked its progression; one recent study has shown that an earlier age of onset is associated with faster-growing tumours and a higher risk of mortality.

NF2 can also be passed genetically from parents to children.

(Source: National Institute of Neurological Disorders and Stroke)

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Synonym(s):   Von Recklinghausen’s Disease
Condensed from Neurofibromatosis Fact Sheet

Table of Contents (click to jump to sections)
What is Neurofibromatosis?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations
Publicaciones en Español
Additional resources from MEDLINEplus

What is Neurofibromatosis?
The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual’s genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old. NF2 is less common. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for bilateral eighth nerve tumors and similar signs and symptoms in a parent, sibling, or child. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.

Is there any treatment?

Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. In the rare instances when tumors become malignant (3 to 5 percent of all cases), treatment may include surgery, radiation, or chemotherapy. For NF2, improved diagnostic technologies, such as MRI, can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Other options include partial removal of tumors, radiation, and if the tumors are not progressing rapidly, the conservative approach of watchful waiting. Genetic testing is available for families with documented cases of NF1 and NF2. New (spontaneous) mutations cannot be confirmed genetically. Prenatal diagnosis of familial NF1 or NF2 is also possible utilizing amniocentesis or chorionic villus sampling procedures.

What is the prognosis?

In most cases, symptoms of NF1 are mild, and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening.

What research is being done?

Several years ago, research teams located the exact position of the NF1 gene on chromosome 17. The product of the NF1 gene is a large and complex protein called neurofibromin. One portion of this protein is similar to a family of proteins called GAP (guanosine triphosphatase-activating protein). Scientists have demonstrated that GAP proteins play a significant role in tumor suppression in certain cancers. The similarity of the NF1 protein to GAP proteins suggests that the NF1 protein may have a similar switching role in the development of neurofibromas. Scientists theorize that defects in the gene may lessen or inhibit the normal output of its protein and allow the irregular cell growth that may lead to tumor development. Intensive efforts have led to the identification of the NF2 gene on chromosome 22. The NF2 gene product is a tumor suppressor protein. Basic studies in molecular genetics may lead one day to nonsurgical or pharmacologic treatments aimed at retarding or suppressing tumors associated with the neurofibromatoses. The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.

Select this link to view a list of studies currently seeking patients.

Organizations

Children’s Tumor Foundation
95 Pine Street
16th Floor
New York, NY   10005
info@ctf.org
http://www.ctf.org
Tel: 800-323-7938 212-344-6633
Fax: 212-747-0004
National Cancer Institute (NCI)
National Institutes of Health, DHHS
6116 Executive Boulevard, Ste. 3036A, MSC 8322
Bethesda, MD   20892-8322
cancergovstaff@mail.nih.gov
http://cancer.gov
Tel: 800-4-CANCER (422-6237) 800-332-8615 (TTY)
Neurofibromatosis, Inc. (NF Inc.)
P.O. Box 18246
Minneapolis, MN   55418
nfinfo@nfinc.org
http://www.nfinc.org
Tel: 301-918-4600 800-942-6825
Acoustic Neuroma Association
600 Peachtree Parkway
Suite 108
Cumming, GA   30041
info@anausa.org
http://www.anausa.org
Tel: 770-205-8211 877-200-8211
Fax: 770-205-0239/877-202-0239
International RadioSurgery Association
3002 N. Second Street
Harrisburg, PA   17110
office1@irsa.org
http://www.irsa.org
Tel: 717-260-9808
Fax: 717-260-9809

Publicaciones en Español

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient’s medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

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Last updated December 13, 2007


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May 26, 2007 - Posted by | neurofibromatosis, News | , , , , , , , , ,

3 Comments »

  1. This is Devon’s sister Krista. I found your reprint of the article from the newspaper just in doing a search on him to see if anything else, such as this, had gotten out there. I’d just like to let anyone interested in his story know that we recently got the results of his genetic testing back, after an almost 9 month wait, and it turned out that Devon does not have NF2. So we’re back to square one, no one knows what it is, he’s being sent to more doctors for more opinions. As of now he’s doing awesome, there has been some regrowth of the larger tumor that they operated on, but there’s no reason to worry about it. Thanks for putting Devon’s story out there!!

    Comment by Krista Gillet | January 21, 2008 | Reply

  2. Krista,

    Thank you for the update on Devon. That is good news and I’m happy that things are working out. Everyone will know about the progress by your post. Thank you for allowing my to share Devon’s story. I would be happy to hear from you anytime.

    Comment by Reggie Bibbs | January 21, 2008 | Reply

  3. Hi Reggie,
    I am Devons Mom and just found that my daughter had commented on this site. Thank you for sharing Devons story. We just returned from The Hospital for Sick Kids in Toronto and were advised that although Devons genetic testing was negative there is still a 20% chance of a false negative. The opinion of two neurologists is that his symptomology indicates NF2. The tumour that he had 2 surgeries on is continuing to grow and the opinion is he requires surgery by someone who specializes in skull base surgery. I am told this is only available in the states and because we live in
    Canada we have requested that the Provincial government subsidize the cost. We are in a waiting pattern right now.
    Reggie, reading your story has given hope for Devons future and I want to thank you for that.
    With Warmest Regards,
    Kim Gillet

    Comment by Kim | February 8, 2008 | Reply


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