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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.  To help spread awareness this month we are also introducing the tag-line "Help make NF Not Forever'" and the Twitter hashtag #NotForever, together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause. 

In March of 2009, we became a statistic.  We found out that we were raising a child with neurofibromatosis.  With no family history of this disorder, we didn’t know how to pronounce it, much less how it would impact our lives.   Miley Cyrus said it best in one of her songs, “Life’s what you make it” and those lyrics never had meaning until now.

Our son, Ethan is living with NF1.   I can remember sitting, listening to the genetic counselor tell us that “this will take 10 years of your son’s life*."  What a hard thing to hear, yet we took that and learned  that we could either see all the bad associated with NF and all the struggles that might be a part of Ethan’s life or we could just let it be.  We chose to just let it be.  Our faith and belief in God, tells us that Ethan was given to us for a reason.   We look at Ethan and we see the good side of NF.  We don’t see the non-verbal learning disability.  We see the whiz at math and the boy who loves to build.   We look at Ethan and we don’t see the problems he has faced with migraines.  We see the brave fighter, who knows his limitations.

We didn’t discover Ethan’s NF until he was 5 years old; which meant that he had already cleared so many hurdles.  As a family we pray for those who are struggling each day with new challenges related to NF, and we know that the road for Ethan is uncertain. Yet, we do not treat Ethan any differently than we do his two younger sisters.  Ethan is a strong, smart and caring little boy who has a servant’s heart.  His smile and warm hugs bring joy to so many.  Life is what you make it and the sky is the limit for Ethan.   We are truly blessed.

 - Ethan's Mom, Heather

*It is important to note that Ethan's genetic counselor was not speaking accurately (or frankly, appropriately) when he/she said that NF will take 10 years off the lives of those affected. NF affects people in many different ways and there is no way to tell for certain how it will affect Ethan (or anyone else) as he moves through his life.  Further, advances in NF research are very much moving us toward a day when we will see treatments for some manifestations of the disorder.  The Foundation will continue to fund that vital research until we have treatments and eventually a cure for all of the manifestations of all forms of NF. 

To learn more about NF, please click here.

Ed note: During May, NF Awareness Month, we will be 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.  To help spread awareness this month we are also introducing the tagline "Help make NF Not Forever'" and the Twitter hashtag #NotForever, together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause. 

Hi my name is Aaron, I am going to talk about my experiences living with NF.

I was diagnosed with NF when I was about 3 years old. The way NF affects me is mainly from scoliosis, my spine has two curves. I had a spinal fusion when I was 8 on the upper curvature. I have several neurofibromas on my chest and back, but they don’t really cause problems, apart from a large plexiform on the side of my trunk. I am also dyslexic, so needless to say primary School was an interesting experience! 

The problems I have experienced with NF are both medical and personal.

Since the spinal fusion I hadn’t had any issues with NF until 2004 when I started to experience chronic lower back pain. I went to my GP who prescribed some meds for me, but the pain didn’t go away. Fearing there could have been a change in my scoliosis and the fact I hadn’t seen him for over 10 years I decided to see my orthopaedic surgeon.  He concluded that there were no new issues with the scoliosis and that because of the curvature I would be more prone to back pain.

Then I went to a neurologist because I hadn’t seen one since I was a teenager. I had an MRI which showed no Neurofibromas on my spine.

I was then referred to a new doctor.  He said that eventually the lower back would need surgery too but it would be 20 or 30 years down the line. He suggested that pain management was the best solution. The pain specialist recommended an epidural injection containing a slow release pain medication.

Today between the injections and Meds the pain level is under control, unless I’m up dancing half the night.

On a personal level NF has affected me too.

Even though anti-discrimination laws exist in my experience some employers still don’t treat people with medical problems the same as “normal” people.

I have gone for lots of interviews in the past for jobs that I could do. I am not saying every job I have never gotten was only because I have NF. But some employers only see the small guy with the hump on his back and not the potential I would bring to their business.

Another aspect in which NF has affected me is the difficulty in meeting a partner or the way people stare at me.

We live in a very materialistic world where image and look are more important than honesty and integrity.

I’m not going say that “Being Different” doesn’t leave me feeling a little blue at times.

There are times when I wonder what my life would have been like if I didn’t have NF.

What job would I be doing?

Where in the world would I be living?

Would I still be single?

These are all questions that I will never have the answers to.  I came to terms with having NF a long time ago, I just wonder sometimes. 

When I look in the mirror I like the person I see and I think most the world does too.

Having NF hasn’t stopped me doing some of the things I love.

I believe there is a plan for everyone and I have faith that things will be alright in the end.

The Collaborative Science Center of Excellence (CSCoE) at Bristol-Myers Squibb is offering Investigator Sponsored Research (ISR) funding.  There are opportunities to fund clinical research/clinical trials, non-interventional research, non-clinical research, a co-operative groups and networks portal, and an immunoscience, virology and oncology MD fellows research program. BMS will be accepting research proposals/applications beginning April 15, 2011 through midnight June 30, 2011. It is imperative that your application is received on or before June 30, 2011, to ensure that it is considered during the established review cycle. An internal Scientific Research committee will be assessing all submitted applications with the intent of conveying the committee's decision by August 15, 2011.
More information: click here

The Neurofibromatosis Research Program (NFRP) has announced the funding mechanisms for the FY11 appropriation of $16M. For full info visit: http://cdmrp.army.mil/funding/nfrp.shtml

Clinical Consortium Award - Maximum funding $9M for direct costs

Clinical Trial Award - Maximum funding $900K for direct costs

Exploration-Hypothesis Development Award - Maximum funding $100K for direct costs

Investigator-Initiated Research Award - Maximum funding $525K or $675K for Optional Qualified Collaborator for direct costs

Investigator-Initiated Focused Research Award - Maximum funding $525K or $675K for Optional Qualified Collaborator for direct costs

New Investigator Award - Maximum funding $400K in direct costs

Postdoctoral Traineeship Award - Maximum funding $100K in direct costs

This weekend the Detroit Free Press published an inspiring article on Victor Chukwueke, who will deliver the commencement speech at Wayne St. University on May 5.  Victor lives with a particularly challenging case of NF1 that led to tumor masses growing on his skull.  The tumors went untreated in Nigeria -- in most cases the tumor masses would be addressed at an earlier stage in the US -- but Victor's mother was determined to find help and eventually they were able to arrange his travel to the States where he underwent multiple surgeries, and has now gone on to receive his college degree, with honors, in biochemistry. 

The Foundation was contacted by the Free Press to ensure accuracy in their reporting about the disorder.  We are grateful to their commitment to thorough and accurate information about NF in the reporting of this moving story. 

The April 12 issue of the journal Cancer Cell reports the exciting findings uncovering how the NF2 protein Merlin functions, and suggesting Merlin could be involved in many other types of cancer. This research was funded in part by the Children's Tumor Foundation to Dr. Chunling Yi in the research group. Senior author Dr. Joe Kissil is a past recipient of the CTF Drug Discovery Initiative Award; and preliminary findings of this work were presented at the CTF 2010 NF Conference.

The researchers describe, for the first time, that Merlin, the protein encoded within the NF2 gene interacts with a protein called angiomotin which has a key role in cell movement in the formation of new blood vessels. This connection between Merlin and angiomotin also brings together two important information networks in cells, both of which have been implicated in numerous forms of cancer.

Dr, Kissil says,"The discovery opens up a potential new method to treat NF2 by attacking the tumor cells directly and by starvation, a strategy already employed in certain cancer therapies." This is different than drugs like Avastin, which shrinks blood vessels; angiomotin is used by both blood vessels and the growing tumor cells, so targeting this with drugs could be a 'double whammy'.

The Kissil laboratory plans to continue their exploration of angiomotin as a potential therapeutic target for treating NF2, as well as look into the role of angiomotin in other cancers known to be affected by NF2 mutations.

For the second straight year the Children's Tumor Foundation, the leading non-government funding source of neurofibromatosis (NF) research, has been awarded a four star (highest) rating by Charity Navigator, America's largest independent charity evaluator.  Only 19% of charities reviewed by Charity Navigator have received at least two consecutive four star evaluations. 

"Children's Tumor Foundation consistently executes its mission in a fiscally responsible way, and outperforms most other charities in America," wrote Ken Berger, President and CEO of Charity Navigator.  "This 'exceptional' designation from Charity Navigator differentiates Children's Tumor Foundation from its peers and demonstrates to the public it is worthy of their trust."

"We are committed to ensuring that every dollar raised is put to the very best use to improve the lives of those living with NF1, NF2, and schwannomatosis," said George Orfanakos, President of the Children's Tumor Foundation.  "From the transparency of our financial reporting [cited in the New York Times], to the success of our research programs in receiving follow-on funding -- which further amplifies our donors' support -- that commitment is demonstrable.  We are honored that Charity Navigator has once again recognized it."

The annual rating, which Charity Navigator uses to meet its mission of guiding “intelligent giving,” is based on two broad areas: organizational efficiency and organizational capacity, or, how responsibly a charity functions day to day, and how well positioned it is to sustain its programs over time. The charity is then awarded an overall rating, ranging from zero to four stars, with four stars being the highest rating.

To view the Children's Tumor Foundation's Charity Navigator page please click here.

To view the letter acknowledging the Foundation's rating please click here (pdf).

I am pleased to announce that Congress has appropriated $16 million for NF research for fiscal year 2011.  This research, conducted through the Department of Defense, is critical both to those living with the challenges of NF and the brave men and women serving our country. 

As many of you know, research into treatments and cures for NF and its various manifestations has implications for those beyond the NF community.  Advancing our understanding of mast cells to stop tumor growth helps us understand how we may also speed wound healing for our war fighters.  Understanding the mechanisms of pain in NF can allow us to understand the signaling pathways that can block the pain our soldiers may face.  Imaging technologies advanced to understand NF tumor growth are proving essential in MRI volumetric imaging to the broader community, particularly our armed forces. 

We are grateful that those serving in Congress recognize the importance of NF research for those serving our country, and those living with NF.  We know that the importance of NF research validates that recognition. 

Bone abnormalities can occur in NF1, including scoliosis in the spine, and  bowing of the long bones in the legs. These can have  a major impact on quality of life requiring multiple surgeries and in the case of long bone bowing can require amputation.  Today surgery is the primary treatment for NF1 bone dysplasias. The good news is that scientists are learning more about the underlying biology of bone abnormalities and figuring out what drugs might help with treating them.  CTF has funded a good bit of this research through our Young Investigator Award and Drug Discovery Initiative (DDI) Award programs leading to development of new mouse models of bone abnormalities and initial studies to test drugs including Lovastatin in these mice.  
Yesterday and today, CTF has convened in New York City an international expert summit of clinicans and scientists from Australia, the United Kingdom, Canada and the United States to plan how we can build on what we know to get drugs into clinical trials for bone dysplasia, to improve the outcome of current surgical management.  The summit is co-chaired by Dr. David Stevenson, University of Utah; and Dr. Florent Elefteriou, Vanderbilt University and a former CTF Young Investigator and DDI Award recipient.  
This is the second in a series of bone dysplasia summits convened by CTF. The last, held in February 2008, led to the publication of a state-of-the-art report in the American Journal of Medical Genetics in 2009.