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An article in this week's Time magazine 'Check your Charity' highlights parameters you should look for if considering supporting a medical research charity or foundation. Issues highlighted include - what percentage of the funds raised actually go to medical research programs?  Is the charity or foundation monitoring outcome metrics to demonstrate progress and success? Children's Tumor Foundation has already demonstrated fiscal success through our maintained 4 Star Charity Navigator rating and we received a mention in the New York Times last December in reference to wise charitable investments.  Now further recognition has come from our metrics of success. In December 2010 the Children's Tumor Foundation was invited by to join Mr. Mike Milken's  FasterCures group TRAIN (The Research Acceleration and Innovation Network). The FasterCures initiative is focused on bringing business acumen to medical foundations, having them set and live up to metrics, and to place foundations as the central pivot of research progress in the foundation/government/industry triangle.  The FasterCures TRAIN is a select group of foundations such as the Multiple Myeloma Research Foundation and Michael J Fox Foundation that have demonstrated innovative approaches to advancing research progress as well as developing successful approaches to monitoring the efficacy of our research programs.  This week's Time article highlights the value of TRAIN, in the words of FasterCures Executive Director Margaret Anderson, "those that are willing to change want to learn from other groups ... and believe in 'Let's make it as efficient as possible.'"
The Children's Tumor Foundation is delighted to be among the select foundations in TRAIN and will continue to strive to make our neurofibromatosis research programs as effective and accountable as possible.

I was diagnosed with NF2 at just 6 months old.  I don’t remember a time when I didn’t know how to say Neurofibromatosis. My earliest memories are of my Grandmother and Uncle, completely wasted away, paralyzed and deaf. My Mom was afflicted as well and I remember sitting in ICU waiting rooms with my Dad for hours every time she would have yet another surgery, and then bringing her home and dealing with the devastating aftermath.  Over the years all three died before the age of 40.

I had my first spine surgery in 4^th grade, and my back never quite healed correctly. By high school I had a vestibular schwannoma in the left side of my brain. I had major surgery Junior year, and woke up completely deaf on that side. High school was a blur of cruel kids and bad decisions, by the time I graduated my VS had grown back, as well as another one on the right side.

At this point I began having MRIs every 6 months instead of once a year, and it seemed that every time there were more tumors. Over the years I have had clumps of tumors removed repeatedly down my entire spine, have had Gamma Knife radiation on 10 different brain tumors during 6 different procedures, and had Cyber Knife radiation on 6 spine tumors during 3 different procedures. I’ve had bone removed from my spine and cannot stand up straight any more, I have weakness in all of my extremities, no reflexes, double vision and am completely deaf.

In 2002 against all advice I gave birth to my son JT, who was soon diagnosed with NF2 as well. As complicated as the situation was, he is the best thing I have ever done in my life. I stopped waiting to die and started living for my son. I graduated college, got married, and had my daughter Mica, who is the first person in my family in 4 generations to not have NF2!

I don’t even remember how I first heard about the NF Endurance Team, I ran my first marathon with them in 2009 and have not slowed down since. Being a part of the team has been incredible. I am stronger both physically and spiritually, and I am now a proud Team Captain of the Long Beach NF Endurance Team for the 3^rd year running!

As happy as my life is today, NF2 will always threaten my horizon. I want to live to see my children graduate, I want to retire with my husband and grow old next to him, and I know I am not alone. There are a lot of us all waiting for that cure, and I will never give up hope that I will see it in my lifetime.

Ed Note: The Children's Tumor Foundation, in conjunction with the Mayo Clinic, is excited to be offering a Health Fair for individuals living with NF2 and Schwannomatosis at this year's NF Forum.  Click here for more information on this opportunity to receive an evaluation from the foremost experts in NF2 and schwannomatosis care and management.

To read more about Olivia and her quest to find a cure for NF, visit her blog here. 

My name is Sarah, I am twenty-six years old and live in British Columbia, Canada with my husband Hans and our dog and two cats.

I was diagnosed with NF2 when I was thirteen years old. At this time I was having a lot of trouble walking and I was rushed to Children's Hospital in Vancouver, BC where I was given an MRI. The doctors discovered my brain and spine were loaded with benign tumors, and this is how NF2 all began for me. I had emergency surgery to remove several tumors from my spine at this time. I was lucky that with time, patience, and physical therapy, I regained my ability to walk.

But my fight with NF2 was far from over…

Two years later when I was fifteen years old, my left vestibular schwannoma (hearing/balance nerve tumor) had grown large enough to leave me profoundly deaf in my left ear. I underwent stereotactic radiosurgery that year to attempt to stop further growth of the tumor.

In 2007 I underwent my second spinal surgery to remove multiple tumors which had grown large enough to compress my spine and be cause for concern.

In November, 2008, my right vestibular schwannoma had ballooned up and was compressing my brainstem. In the year prior, my hearing in that ear had gotten progressively worse. This surgery would leave me deaf, but there was some hope. I was sent to the House Ear Institute in Los Angeles for the surgery. The surgeons who operated on me there removed the tumor and also implanted a hearing implant similar to a cochlear implant called an auditory brainstem implant (ABI). The ABI gives me sound awareness and helps me to communicate with people when combined with lip reading. It does not mimic "normal hearing", but it is still a huge help and has been a major blessing.

Since 2008, I have been participating in a NF2 natural history study at the National Institutes of Health (NIH) in Bethesda, Maryland. The purpose of this study is for the researchers to learn more about NF2 in hopes of better treatment options. I go to Maryland every six months for testing which includes MRIs, vision testing, blood work, and exams/consultations with research doctors.

At my latest NIH trip in April, 2011, I had eight tumors surgically removed from my right arm. I unfortunately also learned that a tumor at the base of my skull near the brainstem is once again growing. It is in a very risky location and has already been operated on once. This summer I will have to undergo my third major spinal surgery to remove this dangerous tumor.

NF2 will be with me forever. It is a lifetime of waiting and watching, of MRI scans and of deciding when surgery is worth the risk of losing another function. I have too many tumors to count throughout my spine, in my brain, and in various other parts of my body. NF2 and the treatments/surgeries that I have undergone have left me deaf, with chronic back pain, drop foot, poor balance, nerve pain, vision loss, inability to open one eye, facial paralysis and many, many scars.

Despite all this, 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!

The Children’s Tumor Foundation (CTF) is delighted to announce the funding of five new Drug Discovery Initiative (DDI) Awards totaling $125,000, from applications received for our spring 2011 deadline.   DDI Awards fund studies to test candidate neurofibromatosis (NF) drugs for NF1, NF2 or schwannomatosis, offering $15,000 for in vitro cell-based screens, up to $30,000 for in vivo animal model screens and up to $50,000 to continue outstanding in vivo research projects.  Launched in 2006, it is one of CTF’s most successful programs.

The Spring 2001 DDI Awards are as follows:

Cristina Fernadez-Valle, Ph.D., University of Central Florida - $15,000
In vitro DDI Award to screen a small molecule drug library on NF2 Schwannoma Cells 

Jan Friedman, MD, Ph.D., University of British Columbia - $15,000
In vitro DDI Award to test cytokine inhibitors for the treatment of NF1 Vasculopathy

Xu Wu, Ph.D., Harvard Medical School/ Massachusetts General Hospital - $15,000
In Vitro DDI Award to Test Small Molecule Library of Inhibitors of YAP Nuclear Localization in NF2 Schwannoma, Astrocytoma, Meningioma Cells

David Largaesapada, Ph.D., University of Minnesota - $30,000*
In vivo DDI Award to test of drug combinations for NF1 Plexiform Neurofibroma and MPNST (builds on previous DDI Award of $15,000)

David Wiemer, Ph.D., University of Iowa - $50,000
Advanced DDI Award to optimize Schweinfurthins for NF1 Astrocytoma (builds on previous DDI Award of $30,000)

*Dr. Largaespada’s Award is funded by the Texas Neurofibromatosis Foundation through CTF.

Since its launch in 2006 DDI has funded 44 projects – around 10 per year – of up to $50,000 per Award, totaling a CTF research investment of just over $1 million. DDI studies up to 1 year to complete.  To date, 27 concluded DDI studies have shown promising results and have been successful in securing $4.7M in follow-on funding (to continue building on the CTF-funded research) including government, industry, state and institutional grants. 19 scientific publications have emerged from DDI research, and 19 projects have included collaborations with biotechnology or pharmaceutical companies.  And all of these numbers continue to grow.

DDI forms the backbone of the Children’s Tumor Foundation-funded NF candidate drug pipeline. Through DDI, the NF Preclinical Consortium, and the Clinical Trials Award program the Foundation is currently supporting drug testing bench-to-bedside from cell-based assays in vitro to pilot clinical trials.

The next deadline for DDI Award apps is August 31st and info can be found here.

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.

Before having children, I knew there was a 50% chance of passing the disorder onto my children.  My [then] husband and I discussed the possibilities and decided to have children anyway.  After all, I have NF and the only issues I have encountered are mostly physical in appearance.   I knew the day Mary was born she had NF.  I noticed a café au lait spot on her labia.  My heart was crushed.  It took me a long time to accept (and I still have not fully accepted - as I see more tumors on own skin daily) "what I did to her".  As a child I was made fun of due to my spots, and I suddenly felt very selfish knowing there was a possibility my child would have similar childhood experiences.

When Mary was about 5 months old, I took her to see a neurologist to get a baseline exam on her.    She was at all her milestones, but the doctor encouraged me to get an MRI.  I did not.  I was convinced that everyone in my family with NF was fine, and I was determined not to have my 5 month old sedated for a test that would (to me) prove nothing.  We saw the neurologist 6 months later for a follow up.  Mary was still making all her milestones, so I still refused the MRI.  For her 6 month follow-up after that I was forced to switch neurologists due to insurance.  I saw the partner of the first neurologist, the doctor we saw was just awful.  She knew very little about NF, and didn't even want to touch my daughter.  When I got a copy of her report, it could not have been more wrong.  She listened to nothing of what I said.  I wrote a letter and sent it to the board along with a redlined copy of her report.   By this time, Mary was experiencing some speech issues.   I began to investigate getting her tested for early intervention.  She was accepted without hesitation, while she still was making all her milestones, she was showing signs of other issues.    

By the time she was 3 I was on my 4th neurologist.  He said she looked good, but he wanted me to see a vision specialist, and he said "Kim, if you think nothing is wrong, get the MRI and shut us all up, but with NF comes the possibility of tumors on the brain and on the spine." This was in 2006. I still remember this conversation.  I gave in and took her for the MRI.  Not only will I remember the conversation, but I will also remember the phone call of him telling me she had "white matter" in her brain and that he could not help me.  He sent us to Dr. Allen of the Hassenfeld Children's Center at NYU.  He assured me that Dr. Allen was the right doctor for us and NYU was the right place to be.   We were scheduled to see Dr. Allen within a week or two.  Dr. Allen confirmed that she had an enlarged optic chiasm and an optic pathway glioma.  Dr. Allen took a very conservative approach.  The eye doctor we saw was patching her eye, but her vision was there, it was about 20/60.   Because of that, he wanted to take a "wait and see approach" and asked me to repeat the MRI in 3 months.  We did, and there was no change to the tumor, so he pushed us to 6 months, again with no change, so we were pushed to 9 months.  Her MRI of September of 2009 showed a little bit of growth, but since her vision was still about 20/50 (no change), he wanted to wait 3 more months.  Her MRI of December 2009 showed the tumor grew twice its size.  We began chemo in February of 2010.   Chemo was once a week, and they would not tell me how long they thought she would be on it for.  For that time period, I lost my child; she was nasty, cranky, sick.  She lost her hair.  In May of 2010, she began to complain her vision was blurry.  We saw the eye doctor about 4 weeks early who confirmed she could only count fingers.  The next day we went for an MRI.  The MRI confirmed that the tumor doubled in size even though she was on chemo.  Dr. Allen immediately started her on a course of steroids while he decided what should be our next step.  In June of 2010 she began her second kind of chemo.  The tumor has responded well to this treatment, she has one more treatment to go in this course and if her MRI at the end shows the tumor is stable Dr. Allen will give her a 3 month break from chemo.  we look forward to this.

I am so proud of Mary, we have had many ups and downs, many all nighters of throwing up.  But her disposition is always happy and cheerful.  She (almost) never asked "why me".  She always goes to school with her head held high, even when the kids ask questions as to why she had/has no hair or made fun of her because of it.  She is such a brave and awesome child that when I grow up, I want to be just like her.

- Mary's mom, Kim

We are delighted to announce that for a second year the Texas Neurofibromatosis Foundation (TNFF) will fund neurofibromatosis research in collaboration with the Children's Tumor Foundation! Read more here.

I thought that June 2010 will be a great month, because as German guy I was really looking forward to the World Cup. But instead I'll always remember June 2010 for a different reason: Our daughter Stella got diagnosed with Neurofibromatose Type 1.

Our family has no history of this disorder and we had never heard about neurofibromatosis. At first we had no idea about the symptoms and how it can impact the life of our daughter.  It was a really tough situation for us. I had just started a new challenging job for a company which produces synthetic genes and my daughter was diagnosed with a genetic disorder; I thought how can this be?

We had so many questions like: How could Stella get NF1? Why is our family affected? Is that fair? For most of these kind of questions there is no answer, but I`m pretty sure that most people who are affected with NF have the same questions at least in the beginning.

Our daughter Stella has a lot of café-au-lait-spots and three cutaneous neurofibromas on her left shoulder. Stella is an extreme active kid and my wife really has a full-time job with her. Anyhow, since we heard of Stella’s disorder we love her even more and we enjoy every second with her. She’s so lovely and we hope that she will cope with the disease. We hope that with a strong personality she will handle the disease, even if her life is probably more challenging than that of people who are unaffected.

It took us a while till we could talk about the disorder and it is still hard to accept her diagnosis sometimes. Nevertheless, we think the best thing we can do is to start the fight against neurofibromatosis. Therefore we founded the German non-profit organization “Nothing is Forever – Neurofbibromatose durch Forschung besiegen” in January 2011 (www.nothing-is-forever.de).  Since that time we spent nearly all our leisure time working for to advance NF research and we are optimistic that there will be a treatment for neurofibromatosis. Additionally I took a two month parental leave to push the project.

With the Nothing is Forever we will push the research in the area of neurofibromatosis and we will provide patients with current information. At the moment we are looking for a famous patron for our organization. Since February we have collected nearly $20,000 for the battle against neurofibromatosis and we hope that that is just the beginning. We are sure there is a cure for NF!

Josef Kammermeier

1. Chairman “Nothing is Forever”

www.nothing-is-forever.de

Thanks for your input, we look forward to seeing you at the Forum!

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.

Kendall was born on August 5th, 2010. We were told that we had a healthy baby and sent on our way. I knew from the start that something was not right with her. She did not look normal to me and was extremely fussy. Finally, at her 2 month checkup, the pediatrician agreed that she needed to see a GI doctor for her reflux and fussiness. We were able to get in with the GI doctor the following week. As soon as we got there she rushed us down to radiology and the first mass was discovered.

We underwent testing all week in the hospital with Kendall. We were shuffled from doctor to doctor and eventually told she most likely had cancer and would need a biopsy. The following week Kendall underwent her 1st surgery. The tumor in her abdomen was found to be inoperable. They took out a small amount and we were later told it was not cancer. Meanwhile, her doctors suspected something else was wrong besides just the tumor in her abdomen. After undergoing more tests, the doctors found 5 more tumors in her spinal column, one in her cervical and four in her lumbar. Everyone assumed she had neurofibromatosis developed by her own genetic mutation and not passed on from us. It has since been confirmed by genetic tests.

We were then referred on to Cincinnati Children's Hospital, which has a NF clinic. Once we got there Kendall underwent more and more testing. The mass in her abdomen was once again suspected to be cancer. She underwent her 2nd surgery to debulk and biopsy the tumor. Once again, only a very small amount was able to be removed for biopsy. We were told 5 different times it was and then wasn't cancer. The mass is currently putting too much pressure on her kidneys and has now caused her kidneys too much stress.

Kendall started chemo on December 20th.  She underwent 4 rounds of inpatient chemo to try to shrink the tumor on her bladder.  Unfortunately, the scans showed us that the chemo was not effective and so now she is getting ready to undergo a major surgery.

Our hope is that enough of the tumors will be able to be removed to relieve pressure off of her kidneys.  The tumors that remain will eventually grow back.  We believe that Kendall will see a time when plexiform neurofibromas can be treated.  We hope that this surgery will buy her enough time until that day comes. 

Kendall has inspired me to do whatever I can do to help find a treatment.  In August, on her birthday weekend, my friend and I are hosting the first annual Walk/Run for CTF in Indianapolis.  If Kendall can fight her battle and keep a smile on her face, the least I can do for her is to do everything in my power to help find a treatment.  I am going to make it my mission in life to tell Kendall's story and educate the community on NF.

Kendall has a very long road ahead of her with this disorder.  She has had to deal with a lot of pain and developmental problems.  We know that she is strong enough to fight her battle and grow to tell her own story some day. 

Kendall has been such a blessing to us.  She has taught us so much in her 8 months on this earth.  We have learned to live each day to the fullest without worrying about tomorrow, which is too scary and uncertain right now.  Kendall has taught us to find enjoyment in little miracles that occur daily in our household.  She continues to amaze the doctors at how well her body is coping with all of its challenges.  Just the fact that she wakes up with a smile on her face each morning is a miracle itself. 

NF has robbed me of so many dreams I had for my baby girl.  It has also given me a new appreciation for life and the ability to not worry about small details.  I believe that NF has made me a better mother and given me more patience.  I hope that one day Kendall can be proud of her body and learn to overcome the challenges that NF has given her.

- Kendall's mom, Stephanie

To learn more about Kendall's story please visit www.caringbridge.org/visit/kendallreeve