| PRESIDENT'S REPORT - Mary Jane Bowyer 2
A s 2004 is in full bloom I can’t wait to share
the exciting things that are happening with the
NFSO. First and most important is the medical
symposium and launching of nfcanada that Birgit
and I attended in November, 2003. Thank you
BCNF and Deborah Kline for the wonderful
hospitality and enjoyable weekend. I hope we can
extend you the same courtesy in 2005. We were
so encouraged and educated; we wanted to bring a
symposium to Ontario. We are in the process of
planning a like symposium in the fall of 2005.
This will help celebrate our 20th Anniversary. If
you can help us host this even, please contact the
office. I can’t think of a better way to celebrate.
The awareness of NF has come a long way in our
past 20 years but we still have a long way to go if
we are going to find a cure.
Shown on the front page of this newsletter is the
listing of directors and their positions for our
Society. If you have any ideas, thoughts or
concerns that you would like to share; please feel
free to contact any one of us. We are only as
strong as you make and support us. I am also
including personal addresses for our treasurer and
myself. Please send any donations directly to
Gladys Hamilton our treasurer. We will now issue
income tax receipts at the end of the month the
donation was received. In the past members have
requested that we hold onto the receipts until the
year end, this causes additional work at a busy time
of year. I hope this does not cause you additional
inconvenience. I do apologize to anyone whose
checks were late being cashed and receipts issued.
Our speaker on April 18th is Georgina Rayner.
Georgina is a parent advocate who dedicates much
of her time assisting parents, staff and special
learners. She is an instructor at Centennial
College, teaching a post diploma course in
Advocacy in the Home School and Community
and works for Canada Mortgage and Housing
Corporation. In the afternoon we are having a Tai
Chi & Meditation workshop. I hope that you can
join us and enjoy our own NFSO Tea Party to kick
off May NF Awareness Month. This day will be
jammed packed with information and enjoyment
for both young and old. If you need
accommodations contact Birgit Grimberger at
(416)463-8756 or the Radisson Hotel at (416)493-
7000 and ask for NFSO special rate.
Once again, our thanks go out to Shryne Devine
and her crew of volunteers for hosting a
‘Celebration of Life’ dance and auction in memory
of her brother Donald Mullen. Pictures of NFSO
members enjoying the evening are in this
newsletter. Thanks to all for their support.
On Saturday, July 10th, 2004; we are planning a
‘Family Fun Day’ more information to follow or
you may call the office for details.
In May, I will be attending the nfcanada meeting
in Montreal. We are starting with a two day
strategic plan, vision & mission statement. We
will then join ANFQ in their 15th Anniversary
Celebration.
In closing, I would like to extend my heartfelt
sympathy to the family of my cousin Rose Ann.
She has given me the most precious gift and I will
forever hold a special place in my heart for her.
You are all in my thoughts and prayers.
Mailing addresses:
Mary-Jane Bowyer, NFSO President
279 Bartlett Lake Road
P.O. Box 92 Sprucedale, ON P0A 1Y0
Gladys Hamilton, NFSO Treasurer
3785 Sideline 14
R.R. # 1 Locust Hill, ON L0H 1J0
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| CHERYL’S STORY - By Cheryl Patterson
My name is Cheryl Patterson and I would like
to share my story with you. I was born in 1963,
the youngest of three children. At the time of my
birth, I had a tibia/fibia bone deformity of my left
leg. Little was known about NF at that time, all
my parents were told is that it was something
‘genetic’ and happened during my mom’s
pregnancy.
My father and older sister also have
neurofibromatosis, but not my older brother. We
believe my fraternal grandfather had it but went
undetected at the time of his death. My dad
and sister were diagnosed at the same time in early
1980’s, my diagnosis came later.
I had surgery at the age of 18 months for my
tibia/fibia deformity. I was also born deaf, with
nerve damage in both ears. This was not
discovered until I was 7 years old and my teacher
realized I could not hear her; I was great at lip
reading. I have an excellent keen sense of smell
to compensate for not hearing. Again they were
told it happened during mom’s pregnancy. By
age 12, I started having problems with my left leg
again. So we met a surgeon at Mount Sinai; who
operated to remove a growth and placed a metal
plate in my leg to prevent it from happening
again. They still had not realized that I have NF.
I do remember a team of doctors looking at my
café-au-lait spots, touching them and asking if
they hurt when I slept. I woke up in the middle
of the night to find doctors watching me while I
slept. Not a cool thing to happen to a 13 year
old girl. I am sure at the time they suspected NF,
but no one told us. On a return visit to Mount
Sinai at 18 years old, I was told I had NF and had
a 50% chance of passing it onto my children. A
bit overwhelming to hear at that age; however I
looked back on my life and knew it hadn’t been
all that bad. Other than the constant teasing
because of my hearing disability and my speech
was not that great. I have overcome my speech
impairment.
I met my husband when I was 25 years old. He
knew about my NF, loved me and was not
bothered by it. We have two beautiful children;
both with NF. My loving 12 year old son has
numerous café-au-lait and learning disabilities.
He also has ADHD (attention deficit
hyperactivity disorder) and ODD (oppositional
defiance disorder).
My 10 year old daughter (also has numerous caféau-
lait), was diagnosed at age 8 with a rare benign
brain tumor, caused from NF. She underwent
surgery and 14 months of intense chemo therapy.
Her treatment finished in 2003. As a result of
having chemo, she has lost a lot of muscle tone
and now has intense physio therapy daily.
Presently she just had a shunt revision as it was
blocked causing numerous headache’s. We are off
to the neurologist as the tumor is only 55% gone,
and could grow back at any given time.
Life is definitely different than I ever imagined it
would be. The journey I have traveled has indeed
been a very challenging one. I have sometimes
felt like my plate was overfull, yet I am a firm
believer that God never gives us more than we can
handle at any given time. What got me thru this
is my sense of humor and my daughter. She is a
true inspiration and gives me the strength to face
another day. With all she has gone through, yet
she still manages to overlook it all and be happy
and grateful to be alive.
We now count all blessings no matter how small
in our lives. Walking this road has made me
realize how precious life really is, and how short it
can be. Today is the ONLY DAY, we should
worry about. God chose us for some reason or
other to walk this path, and the way I look at it, is
that I pick up my feet and join the journey; or
else miss out on the small beautiful things that are
ahead of me.
Having NF is only a small part of my life. Yes, it
is not always pleasant; not always easy, but then
who said anything in life is easy! I believe that
NF makes us a better person, because I don’t let
anything or anyone stand in my way. I have met
a lot of wonderful caring people through the
NFSO. They were there for me, when I found
out my daughter was diagnosed with her
brain tumor. They have been helpful with
my son’s needs within the school system.
Thanks my friends for being there….Life is
what we make of it, what we take from it,
and what we give it!
Blessings, Cheryl P.
(p.s. my daughter just did a public
speaking contest with the school and
placed first for her grade. She spoke on
having a brain tumor and it was awesome).
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| HOW NF IS VIEWED BY THE
CANADIAN BLOOD SERVICES
- By Shriefe Woods
Recently, we received an email from one of our
members questioning why they couldn’t donate
blood products or bone marrow because they had
NF. She has been donating for years and was in
good health, other than the NF and recently was
denied. We shared this e-mail with fellow
members, and received another e-mail saying that
they too were denied. One of the reasons was that
donating blood could cause people with NF to
suffer convulsions.
After contacting The Canadian Blood Services and
talking to the online services clerk, I was told that
the reason wasn’t listed with a defined answer. She
told me to contact the office in Ottawa to find out
exactly why. So, I spoke with the on call RN and
her answer was that people with NF have a high
relation to pre-cancer in the marrow, which makes
them poor candidates for blood and marrow
donation. She further said that it was a very
uncommon disorder and seemed genuinely shock
when I relayed the statistics were 1/3500 people,
making it more common than even Cystic
Fibrosis. She gave me the name and number to
Dr. Peter Lesley the Medical Director for the
Ottawa office. After leaving Dr. Lesley a message,
questioning the eligibility of donations by people
with NF of blood or marrow I received a reply.
Dr. Lesley called me and proceeded to apologize
for the misunderstanding. It seemed his initial
recall had been that donors with this condition
were not eligible to donate due to concerns for
their increased risk of developing brain tumors.
Subsequently, he contacted the Head Office of the
Canadian Blood Services to get the current status
for this condition. He was pleased to advise me
that donors with Neurofibromatosis are eligible to
donate both whole blood and enter into the
Unrelated Bone Marrow Donor Registry to donate
bone marrow as long as they have no neurological
impairment or malignant tumor.
Unfortunately, not all locations are applying this
new decision, and if you wish to donate, you may
have to educate the center with this information.
As for donation of organs, we are as yet to find
out. Hopefully this lack of understanding is not
applicable to this life giving service.
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| NEW STUDY ON NEUROFIBROMATOSIS
The Autism Spectrum Disorders – Canadian-
American Research Consortium (ASD-CARC)
(Program Director: Jeanette Holden, PhD,
Queen’s University) is embarking on a new study
on Neurofibromatosis. We are interested in ALL
families with a diagnosis of Neurofibromatosis
(NF) in one or more family member for this
study. Individuals with NF have an increased risk
for also having autism or an autism spectrum
disorder, such as Asperger’s syndrome. Persons
with ASD usually have impairments in social
interaction and verbal and non-verbal
communication, and have repetitive or stereotypic
behaviours. Within a family with NF, individuals
can be affected with only NF, or with both NF
and an ASD, or with ASD alone. Furthermore,
there are some families where there are multiple
cases of NF but only a single individual has both
of these conditions.
We are interested in all families with NF and hope
you will consider joining our research program.
Our hypothesis is that ASDs result from the
interaction of several genes (perhaps 5 – 10 genes)
and that there are several different genetic forms
of autism, something akin to the different forms
of NF. We also propose that NF predisposes
individuals to developing ASD, but that in order
for a person to have both NF and ASD, another 4
– 5 different genes have to be present. We hope
to identify those other genes by studying a large
number of families with NF – both those with a
case of ASD and those with no cases of ASD. We
hope that the results of the study will help us
identify infants with NF who are high risk for
ASD so that such infants can be referred by
special developmental assessments and treatment
before they show signs of autism. The study will
also help us to determine genes important in
autism susceptibility in families where there is no
NF.
We need a large number of families to participate
in this study – which involves:
• Each family member providing a blood, cheek
swab or saliva sample for genetic studies;
• Completion of several questionnaires about the
behaviours and other characteristics of the
affected individual, siblings and the parents
(can be completed on-line or on paper copies)
at your convenience; and Clinical assessments
may be required in some cases
For more information or to participate, please go
to www.autismresearch.ca or call us toll-free at
1-866-ASD-CARC (1-866-273-2272). Thank
you very much for considering participating in
this important study.
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| PARTICIPATE IN NF1 RESEARCH IN THE FRIEDMAN LAB!
Much of the research we do involves generous participating by people who have NF. There are
currently two studies for which we need volunteers.
1. The French collaborative study on the
psycho-social effects of the skin symptoms
of NF1.
Having a chronic disorder like neurofibromatosis affects different people in different ways, both
physically and psychologically. This study used two short anonymous questionnaires to document the
ways in which NF1 has affected your quality of life.
One of the potential benefits of this research might be that it provides evidence that removal of
neurofibromas is not cosmetic surgery, but rather can be necessary for an individual quality of life.
2. Origins of Neurofibromas in NF1
PhD student, Tracy Tucker, is working on a project to learn about the development of neurofibromas.
This research is important to our understanding of neurofibroma formation as well as being central to
developing possible treatments for neurofibromas.
If you are female and are having any neurofibromas removed for any reason, and would like to help out
with this study, please contact us. For technical reasons related to the method used for DNA analysis,
this study is limited to women.
If you are interested in either study, please feel free to talk to Patricia Birch, Jan Friedman, or Tracy
Tucker. You may reach them at Friedman Lab, 300H-6174 University Blvd., Vancouver, British
Columbia V6T 1Z3 Telephone: (604)822-2749, Fax: (604)822-5348
For the French collaborative, please contact Patricia Birch: birch@interchange.ubc.ca
For the Neurofibroma study, please contact Tracy Tucker: tbtucker@interchange.ubc.ca
** Another study that is being conducted through Tracy Tucker involves, same sex siblings; both having NF1
and over the age of 18. If you and your sibling are interested please contact Tracy at the above site and
number. (You may call collect)
BCNF Symposium Speaker, Tracy Tucker talked on ‘Does everyone have the same risk for MPNST?
(Malignant Peripheral Nerve Sheath Tumors). They usually develop from plexiform neurofibroma.
The common symptoms are pain, enlargement of a pre-existing tumor, and other defects in function.
Average age at diagnosis is 31 years for MPNST.
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