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Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF. If you'd like your story to be featured please email ggleeson@ctf.org with an article of approximately 500 words, and your picture (or your family's picture).  If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause.

Hi!  My name is Diane, and I have Neurofibromatosis 1 (NF1).  Growing up, I had no idea that I had NF, let alone heard of it!  All I knew and saw was that I had a ton of "birthmarks" scattered throughout my body, some even looked like little freckles tossed across my neck, armpit, groin area.  I hated it and tried in vain to cover up as much as them as I could with clothing.  As much as I loved summer I also dreaded it since it meant tank tops, short and bathing suits. 

After a while I started to notice that I was getting these strange bumps all over my body, some hurt, thankfully the majority of them did not.  I didn't really think to go to the doctor since they were mostly painless, and I figured my mom would claim it was misguided pimples and to eat more vegetables and lay off the junk food.

Obviously I had gone to the doctors for other ailments, but not once did they investigate my "spots or bumps", thus I also wrote off that nothing was wrong.

It was in 2007 at age 29, that my doctor suspected that I may have NF.  Like everyone else, first hearing about NF, I was thinking,..neuro-whatta???? 

When I got home, I looked up Neurofibromatosis…the symptoms matched mine, the birthmarks I learned are café-au-lait spots, the spots were neurofibromas, I am short(er) which is another trademark, the hypertension as well….though I think my HBP is also due to genetics, as well as diet and stress.

Then I clicked on “images”, my…jaw…dropped. The images that initially popped out to me did NOT resemble me. But then I saw the other images that seemed to fade behind the ones I did notice—those looked like me.  I was stunned,  I was not sure if my own NF would progress like the ones I was shocked by,…and I’ll admit I did cry.

To know for certain that I had NF my doctor had me get an MRI and see an ophthalmologist.  All signs pointed to in fact having NF1. 

Wanting to find other individuals who had the same disorder (NOT disease-after all you can’t catch NF by hanging out with me), I poked around the web and found www.inspire.com and the discussion forums, and made a few friends there. Then I decided to try www.facebook.com to see if they had any NF, groups, I honestly didn’t think I’d find anything, I found that there were groups after groups after groups.  I was ecstatic!  There were other people like me out there!  Even more comforting, some were close by!! I quickly made friends with other NF’ers all over the world, and I furthered my knowledge and understanding of the complex disorder.

I underwent two separate surgeries to have a total of 10 tumors removed from my body. I was very fortunate that none of them were cancerous. As the time goes by the scars fade away.  But on the flip side my body will and does create more tumors.

Last year I was fortunate to stumble upon a clinical trial for NF1 at UCLA [for more on lovastatin and NF, please click here, to learn about NF-related clinical trials please click here]. It was a double blind study to see Lovastatin vs. a placebo aided in improved cognition.  The trial consisted of me taking a pill everyday and then going for occasional follow ups. They conducted a cognition test at the beginning of the trial and at the end of the trial.  I successfully completed the trial from beginning to end—I even endured the MRI two more times. I won’t know for a few years what I was actually taking, the actual drug or the placebo. I thankfully rarely suffer from side effects of medications. 

For the most part, yes I have NF, but it doesn’t have me…but I am human after all and there are times that I do feel it has me.  I still shy away from certain clothing and/or materials because all I see are the tumors poking through screaming,  “Look at me!  Look at me!!”  Granted, I’m not cloaked in clothing from neck to wrist to ankles anymore, but still, having the freedom to buy anything off the rack would be bliss.

On the dating level, I question if the guys will care that I’m “flawed”. When do I mention that I have it? 

On a side note: I had lost my job about three years back, and was unemployed for about 6 months, with all that “free time” I gained about 10-15 pounds. As much as it sucked gaining that weight, I felt that with the weight gain, I’d rather be rejected for being fat vs. the NF. After all, weight gain I can control (with A LOT of effort) vs. the NF I cannot (no matter how much effort I put into it).

I’ve dated on and off through the years but nothing that has been serious.  None of the guys seemed to have an issue with the “spots and bumps”, or at least never addressed them to me directly.  As the years go on though, I have more tumors popping up (and scars from surgeries), so there’s always a little voice in the back of my head…will they care that I have NF? 

But those pessimistic thoughts are rare, and I despise having the “Eeyore” complex to life.  There are so many people out there in the world that have it worse than I do, NF or no NF. I much rather view my life as the martini glass half full—because the part that I drank has been pretty darn good.

2011 National Children’s Tumor Foundation (CTF) Ambassador Represents Cavaliers @ NBA Lottery

Nick “Picks” Gilbert To Take Stage for the Wine and Gold!

Courtesy of www.cavs.com – The Cleveland Cavaliers today announced their representation at the upcoming NBA draft lottery in Secaucus, New Jersey next Tuesday, May 17th.

On stage as the official Cavs representative will be 2011 National Children’s Tumor Foundation Ambassador, Nick Gilbert who is also the 14-year-old son of Cavaliers Chairman and Majority Owner Dan Gilbert.

Serving as the team’s observer in the separate room where the ping-pong ball “lottery” drawing actually takes place, will be Cavaliers Vice-Chairman and Minority Owner  Jeff “The Inspector” Cohen. Dan Gilbert will also attend and observe the stage production.

As the 2011 CTF ambassador, Nick’s role as the Cavaliers representative on-stage comes with important additional responsibilities. The Children’s Tumor Foundation (CTF) www.ctf.org is dedicated to improving the health and well-being of the more than 1 in 3,000 children born with Neurofibromatosis (NF), a nerve disorder that causes tumors to grow anywhere in the body at any time. May is also NF Awareness Month and, coincidentally, May 17th is also World NF Awareness Day. Nick was born with NF and has successfully and courageously battled the disease his entire life.

“We talk a lot about hero’s in sports but sometimes we overlook the hero’s that are in front of us every day. Nick Gilbert was born with NF more than 14 years ago. Despite enduring brain surgery, the loss of vision in one of his eyes, four long rounds of chemo therapy and countless visits and time in doctor’s offices and hospitals, he has emerged as the happiest and most optimistic person I know. Nick has never complained a single time about the bad card he was dealt, and instead, chooses to focus on all that is good and exciting around him. He is an example of perseverance, determination and life the way it should be lived. Nick is my personal hero. BTW….The kid is also quite lucky, which Cavs fans should take solace in, since he is representing us in the lottery on Tuesday evening!” said father of Nick and Cavs owner, Dan Gilbert.

As part of Nick’s role, he will be using social media to share his special experience as the Cavaliers official on-stage representative via his Twitter account @CavsNick.

Nick will be Tweeting starting immediately and continuing through the lottery event, including behind the scenes photos and special chances to win exclusive Cavaliers, Fathead and other very special prizes. In addition, followers can help support the fight against NF by simply texting CTF to 20222 to donate $10 or visiting www.ctf.org/cavsnick to make a donation. Fans and media alike are invited and encouraged to follow @CavsNick on Twitter and re-tweet Nick’s tweets to share the fun and help the cause. To “follow” @CavsNick, please visit www.Twitter.com/CavsNick now.

The Cavaliers and Dan Gilbert will together match dollar for dollar all funds raised for CTF from this initiative running up through the NBA lottery.

“I am pumped up to rep the Cavs in New Jersey at the NBA Lottery this Tuesday night. I will do everything I can to help bring the highest picks to Cleveland as well as raising additional funds for the foundation,” said the teenage Gilbert.

The Cavs currently have two 1st round lottery picks plus two second round picks in the upcoming 2011 NBA Draft which is taking place on June 23rd.  The lottery drawing on May 17th will determine the order in which the lottery teams choose their draft picks. The Cavs have the second most ping pong ball combinations in the lottery with 227 (out of 1,000 total combinations used in the elaborate NBA lottery system). This represents 199 combinations obtained via the Cavaliers own pick, plus an additional 28 combinations with the lottery pick acquired from the    Los Angeles Clippers as part of the deal made with the Clippers at the trade deadline this season. The 2011 NBA Draft Lottery will be broadcast live on ESPN TV next Tuesday, May 17th starting at 8:00 p.m.

Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF. If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause.

My name is Alicia and my husband and daughter both have NF1.  Kevin and I both knew that there was a 50% chance that any child that we had could get NF.  Malina was born in July of 2004 and was diagnosed with NF at 6 months old.  She presented with the cafe-au-lait spots as well as tibial dysplagia of the right leg.  This was the first orthopedic side effect of NF within the family.

Malina has worn a right leg brace since she was 6 months old, and although she was delayed in walking, it does not stop her.  She has completed running the mile tests at school and earned "feet" which are awards for completing the mile in a given amount of time.  Malina is currently excelling in 1st grade.  She has terrific writing skills and reads at almost a 4th grade level.  She has received the Student of the Month Award this year.  School is a place of strength for Malina.  She overcomes her leg disablility by acheiving so well wih her schoolwork.

Malina also takes ballet and horseback.  This is her 3rd year of ballet and 2nd year of horseback.  Her spirit in dance is tremendous and it is a pleasure to watch her.  She is an excellent horseback rider.  This past weekend, she competed in her 3rd horse show.  She earned two 4th place out of 7 ribbons in her first show, two 1st place ribbons in her second show, and one 1st place and one 2nd place in her most recent show.  Her enthusiasm ans excitement make dealing with NF so much easier.

Malina is a true example of living life to its fullest despite what obstacles are thrown your way.  Although we go through difficult and emotional times, Malina comes back fighting even harder.  We do not see Malina as different...we see her as a shining example of how to live life and enjoy every moment.

Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF. If you'd like your story to be featured please email ggleeson@ctf.org with an article of approximately 500 words, and your picture (or your family's picture).  If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause.

Hello everybody! My name is Mariana and just like you NF is part of my life. Everything started when my first child was diagnosed with NF1 almost 7 years ago. When Alex was just a couple of weeks old, we noticed the café-au-lait spots and the pediatrician sent us directly to the geneticist. The diagnosis was obvious for the doctor. He mentioned to us this unknown word: ‘neurofibromatosis’.

We didn’t know what to say, think or ask. Suddenly, our life became a rollercoaster and the journey of constant check-ups for eyes, ears and MRIs started. I was looking for information every single day trying to learn about the disorder and trying to find families that were dealing with the same conditions that we were back then. I needed to understand and share what I was feeling but I also needed for someone to share with me how it was to live with NF.

It took me almost 6 years to make a connection that has changed the way I feel and the way I see this disorder. It was last year when I attended the NF Forum [learn more] that I made contact with people just like me, families with sons or daughters who have NF, teenagers living with NF and adults sharing how it is to live with NF. I also learned about all the research that is being done to find a cure for NF, how the clinical trials are planned and executed, all about the different doctors that work around the country, dermatologists, plastic surgeons, neurologists, etc.

It was great to feel that we are not alone. There are many NF clinics around the country that work very hard for us. There are a lot of people that are part of fundraising for research even though in many cases NF is not part of their life directly.

The most amazing part of being in the NF Forum last year was all the wonderful people that I met. People that now are part of my life and that even if we are in the opposite side of the country, there is a special connection. These relations are for me the NF family that I looked for 6 years. I saw the children that have NF playing together. I met adults with NF that shared their experiences and how they live with NF. It just completely changed the way I felt about this disorder.

When I left Atlanta a year ago to attend the NF Forum, I was very scared. I did not know what to expect. I did not know how it was going to affect me. I can tell you now, that since I left Vegas last year, I feel empowered. I understand so much more how it is to live with NF. I feel more confident that we are making the right decisions to support our son. I am happy to have the friends that I met last year during the NF Forum. It does not matter that we do not see each other because we live far away, what matters is that we have established a connection. This strong link that makes us NF warriors fighting to find a cure. 

In a research project funded in part by a Children's Tumor Foundation Schwannomatosis Award, a team of researchers at Albert Einstein College of Medicine has helped to further unravel the functioning of the schwannomatosis gene, and showed further links of this gene to childhood cancer.

In the April 26 online issue of Cancer Research, Dr. Ganjam Kalpana and her co-workers show that when the schwannomatosis associated gene, INI1/Snf5, is mutated,  it causes changes in the expression of another gene, Aurora A.  It has previously been shown that INI1/Snf5 is mutated in childhood rhabdoid tumors.  Dr. Kalpan and her team have shown for the first time that Aurora A expression is increased in childhood rhabdoid tumors and therefore represents a candidate drug target for treating these tumors as well as schwannomatosis.

INI1/Snf5 was only recently identified as a schwannomatosis-assiociated gene - in 2007. This exciting progress further helps us understand schwannomatosis and how to treat it. Furthermore it suggests that progress in schwannomatosis research can likely inform treatments childhood cancers, and vice versa.

The Children's Tumor Foundation has been a major driver in advancing schwannomatosis research in the past few years, since the schwannomatosis gene was identified: 

• CTF published the first clinical diagnosis guidelines for schwannomatosis is 2005.
• CTF has invested more than $700,000 in schwannomatosis research since 2007. 
• CTF  has held a series of research think tanks to encourage collaborations between physicians and scientists, with the next think tank scheduled for June 2011.

With the delay of FY2011 appropriations bill being passed just last month, Congress now will be focusing on FY2012.   Given the budget challenges our country faces, the NF community will be asking Congress to maintain the CDMRP-NFRP at the $16 million funding level of FY2011.  Representative Luis Gutiierrez (D-IL) has written a "Dear Colleague" letter to the appropriations committee supporting this level of funding.   Please take a minute today to email your Representative (find them at www.house.gov) asking them to sign onto this letter by contacting Nicole Dinis ( nicole.dinis@mail.house.govThis e-mail address is being protected from spambots. You need JavaScript enabled to view it ) in Rep. Gutierrez's office.  The deadline for signatures is May 10.  Below is a template letter that you may use to reach out to your representative, please feel free to add a personal story.

Later this season we will be making another push for advocacy in the House, and following the House passage of the bill we will then turn our attention to the Senate in the summer.

May  XX, 2011

The Honorable (Representative  Name)

(Office Address)

Washington, DC

Dear Representative (Name):

I am writing to ask you for your support of the Congressionally Directed Medical Research Program’s Neurofibromatosis Research Program (CDMRP-NFRP) in the 2012 Defense Appropriations Bill. 

 As someone closely touched by neurofibromatosis (NF), I have followed this program closely since inception in 1996, and am familiar with its great accomplishments.  These successes include the discovery of new signaling pathways, nerve regeneration, mouse model development, and direct links to cancer therapies.  Now these basic discoveries are being translated into drug development through the NF Clinical Trials Consortium, to the great benefit of our warfighters, overall military health and indeed, that of all Americans. 

I am well aware of the fiscal challenges our nation faces.   However, this long-standing program has demonstrated great progress, and is an example of what our government can accomplish with the proper resources.  We are on the brink of drug trials, and this continued funding would ensure the development of safe and effective treatments for NF.  

Representative Luis Guiterrez, of Illinois 4^th Congressional District, is circulating a ‘Dear Colleague’ letter asking for fellow members of Congress to sign two letters.  The first letter requests $16 million in funding for the Army’s NF Research Program (NFRP) in the FY2012 Defense Appropriations bill, the same amount that was included for the NFRP in FY2011. The second letter requests inclusion of report language on NF research at the National Institutes of Health in the FY2012 Labor-HHS-Education Appropriations bill. The benefits of this program have been of tremendous importance to the advances we have seen in NF research. Mouse model development, learning disabilities, nerve signaling pathways, vestibular schwannma's and MPNST's have all seen major advances thanks to the CDMRP-NFRP. This funding has been critical to researcher's knowledge of NF.

We must continue to invest in research and build on the successes and momentum of this program if we are to continue to advance towards treatments and a cure for NF and the numerous complications associated with it.  We respectfully request that you contact Nicole Dinis (nicole.dinis@mail.house.gov) in Congressman Gutierrez’s office by May 10^th to add your name to these letters.

Sincerely yours,

Your Name

Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF. If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause.

Our daughter, Logan was "officially diagnosed" with NF1 in August of 2010 at the age of 3. She had numerous cafe au lait spots almost from birth so we were watching her all along. In her August appointment with her wonderful neurologist, Dr. Robert Greenwood, two neurofibromas were located on each occipital nerve. They are not causing any issues currently. A baseline MRI was done in September 2010 and, as her mother, I must say it was extremely difficult seeing her go through being sedated.

As her father and I sat in the room while she had her MRI, I was in tears looking at her small body inside such a big tube. The thought of many more scans in her future was almost too much to bear. Her MRI came back normal and the plan is for her to be monitored annually by her neurologist. We are blessed to be in an area that has excellent medical care and a Neurofibromatosis Clinic [Find a Doctor].

To help us cope, our family decided to get involved in fundraising. In February 2011, with the help of dear friends and family we held a Silent Auction and 50/50 Raffle. We also participated as a team of 10, Logan's Heroes, in the Raleigh Rocks 5K run on April 10, 2011. To date we have raised a total of $3144 for NF Research via Children's Tumor Foundation.

We want our daughter to be able to look back one day and see that many were fighting for her before she could fight herself. She is such a blessing in our lives and has so much personality...anyone who knows her can vouch for that!

Dr. David W. Polly, Jr. of the University of Minnesota-Department of Orthopaedic Surgery and Dr. Christopher Moertel of the University of Minnesota, Department of Pediatrics are conducting a study entitled: Genetic Evaluation for the Scoliosis Gene(s) in Patients with Neurofibromatosis 1 and Scoliosis.They are seeking persons with confirmed diagnosis of NF1 and scoliosis to participate.  For further information please contact: Barb Rogers, Spine Research Coordinator - 612-273-8082 roger048@umn.edu or Charles Ledonio, M.D. Spine Research Associate - 612-273-8035 ledon001@umn.edu 612-273-1177.

Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF.  If you'd like your story to be featured please email ggleeson@ctf.org with an article of approximately 500 words, and your picture (or your family's picture). If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause. 

The following is republished with the permission of Dara Squires of Readily A Parent.

May is Neurofibromatosis awareness month.
Which is kind of ironic for those of us living with NF - either as people with the disorder, or as parents of children with the disorder. The fact is, I'm always aware. It's like a tickle at the back of my throat. Even when everything is going great and we have no worries, I'm still aware. Aware that everything won't always be great; worried that things aren't as they seem.
This week Emerson has fallen off his tricycle and skinned his face; he has gotten into the knife drawer and put a handy gash in his finger; he's fallen and jumped off of more chairs than I can count. He's a boy. Almost three. He will get hurt.
Yesterday another mom told me she admires my calmness when he is hurt. How I can take charge and take care and not turn into a sobbing mess.
But let's face it, gashes and fat lips, even asthma attacks and hives - they're pretty easy to take care of. There's a branching tree of decisions you can make: is this serious; can I take care of it myself or should we go to the hospital; should I use a bandaid or a gauze pad; etc. etc. etc.
Neurofibromatosis, on the other hand, has no orderly decision tree. For three months Emerson has been limping off and on. A couple of days his speech has been slurred and his balance seems off. Tired? Maybe. Brain tumour? Possibly. Spinal cord tumour? Perhaps. Plexiform tumour in his leg? Might be.
And we mention it to the pediatrician, and we mention it again, and we mention it again. But until he's limping every day for several days she doesn't really care.
But I care. Everytime I see him limp I search for the decision tree and instead I find the disaster scenario. You know the one. The one that reads: He's got a tumour on his spine. One morning I'll get him out of bed and he won't be able to walk. They won't operate. If they do it'll come back. We'll do radiation. How are we going to afford the trips to the hospital? I need to find more work. The house is going to get a lot messier.....
Typical mom thoughts, right? Or not. Not for those with "normal" kids.
Neurofibromatosis is not something I think about every moment of every day. But it is something I think about every day. At least once. Changing his diaper I notice new spots. Watching him sheild his eyes from the sun I wonder if that's a symptom of an optic glioma (memo: ask Google). Calling to schedule and resechedule and check up on results of tests and appointments. He gets a pimple or a hive and I mark it in my memory to check for later. Because if it's still there next week it's not a pimple or a hive but a neurofibroma.
Sometimes I think about it so much that I forget my other children don't have it. When Harrison seems particularly obtuse in learning a new subject I remind myself that kids with NF have a higher incidence of learning disabilties. When Teaghan complains of her stomach hurting again, my first thought is stromal tumour. Those are on the days when I'm tired. When I've been on the phone with more doctors. When I forget where I've placed my coffee ten times in a row and we're only an hour into the morning. Those are the days when I can't keep the kids names straight, let alone keep their disorders straight.
I am always aware of NF. It's a part of our lives. Its the shadow under which we live, but it's also part of the glue of our family. It's a large part of what's kept me at home; it has made me new friends; it has led to me being able to support others as well.
And it's made me acutely aware of the suffering of others. There are times, yes, when I see or hear another parent complaining about their child's asthma or allergies and I think - God you don't know how good you have it. But that's just on the really bad days when I've been climbing the disaster tree. Most days I can react with the knowledge and the certainty that they've got shadows and glue in their family too. And sometimes I can help, with support or information. And sometimes all I can do is say "I know how you feel."
I wish I didn't. But I do.
Awareness? We've got plenty. But the world out there knows so very little. It's hard to imagine that something that consumes our life so totally is a word that many people can't even pronounce. And I know there are other parents - with kids with NF or kids with other disorders and diseases - who feel exactly the same.

To follow our Stories of NF series, become a fan on Facebook and/or follow us on Twitter. 

The report from the 2010 NF Conference was published earlier this year in the American Journal of Medical Genetics and  is now available for FREE download.
The NF Conference is the worlds premier annual gathering of researchers and clinicians focused on neurofibromatosis now attended by over 300 professionals.

The 2011 NF Conference will be held in Jackson Hole, Wyoming June 11-14. For more information on this meeting and how to register click here.  The NF Conference is not generally open to lay persons, but in 2011 we will be taking a multimedia approach to keep everyone abreast of the meeting highlights, including blogging, tweeting and presenting short researcher interviews on the CTF website.