PKU:  Living in a Cave

Guest Blogger: Kevin Alexander, MA

I have lived my entire life being afraid. I have always minimized PKU when talking to others about it, at least until a few months ago. In my desire to fit in with society I simply downplayed its role in my life. People around me have always known that I can’t eat like them. But I never opened up and really explained why it’s so important. Sure, I explained what could have happened if I wasn’t diagnosed and treated since birth. But I never explained what could happen to me today if I don’t follow my diet and drink formula.

I may have an incredibly rare disease, my body may not work exactly like everyone else’s, but that doesn’t mean there’s something wrong with me.

These last few months I’ve walked out of the cave I was living in.

Kevin Alexander

You can read the rest of Kevin’s reflections and insightful blog HERE

MAY IS NATIONAL PKU AWARENESS MONTH!

Editor’s Note:  Kevin Alexander has Phenylketonuria (PKU), a rare inherited metabolic disorder.  Kevin shares with us his blog every week on Tuesday.

As with all guest blog submissions, the views and opinions expressed on this guest blog are purely the bloggers’ own and do not necessarily reflect the thoughts or opinions of R.A.R.E. Project.  Any product claim, statistic, quote or other representation about a product or service should be verified with the provider or party in question.

FOR IMMEDIATE RELEASE

House FDA User Fee Bill Will Unlock Lifesaving Treatments for Rare Diseases
Rare Disease Community Applauds House Energy & Commerce Committee for User Fee Reauthorization Legislation that Spurs the Development of Treatments

Thursday, May 10, 2012, WASHINGTON, DC—– Today the House Energy & Commerce Committee finished mark-up of HR 5651, the “Food and Drug Administration Reform Act of 2012” that includes several very important provisions to improve access to the Accelerated Approval pathway for rare diseases and spur the development of lifesaving treatments.

The EveryLife Foundation for Rare Diseases applauds HR 5651, the House version of the user fee bill for including language that will fix a “catch-22” that prevents very rare diseases from accessing the Accelerated Approval pathway.  “We are very grateful to Chairman Fred Upton (R-MI) and Ranking Member Henry Waxman (D-CA) for including this essential provision that will unlock lifesaving treatments that have been stalled early in the development process,” said Foundation President Emil Kakkis, M.D., Ph.D.

Subpart D of the House bill will improve the Accelerated Approval pathway for rare and other serious, life threatening diseases.  This would allow for a surrogate endpoint or biomarker (such as a measurement from a blood or urine test) to be used in clinical trials to determine whether the drug is working, which significantly decreases the time and cost to develop a treatment.  Accelerated Approval has been extremely successful in getting treatments approved for cancer and AIDS patients.

Currently, the FDA requires prior clinical information in order to use a surrogate endpoint in a clinical trial.  However for very rare diseases, that prior information does not exist because it has never been treated before.  The language in Section 842 of the House bill could allow the FDA to use all available science to decide if a surrogate endpoint is qualified for use in a clinical study.  “Investment and interest in development will surge for these diseases with very low prevalence if there is an opportunity to access to the Accelerated Approval pathway” says Kakkis.

The revised House bill, which is now hailed to be bi-partisan, includes additional provisions that improve the FDA’s review and approval process that were originally included in the Senate draft.  The EXPERRT Act that will allow the FDA to consult with rare disease experts and the Breakthrough Therapies Act that requires the FDA to take actions to expedite the development and review of a “breakthrough” drug are now both in the House version.  Language from the Creating Hope Act to create additional incentives for industry to develop treatments for rare pediatric diseases and cancers through a priority review voucher was also included in the House version; however it is not in the Senate bill.

“With less than 400 drugs approved to treat 7000 rare diseases affecting 30 million Americans, all of the rare disease provisions in HR 5651 are important to improve the development of lifesaving treatments” said Representative Cliff Stearns (R-FL) who championed the rare disease Accelerated Approval language with Representative Ed Towns (D-NY) that first appeared in the ULTRA Act and later was reintroduced in the FAST Act.

Early this week during the Health Subcommittee mark-up, Rep. Towns submitted for the record, more than 50 letters from patient organizations supporting the inclusion of the rare disease Accelerated Approval language in FAST into PDUFA.  Among these were a press release from the National Organization of Rare Diseases (NORD) and a letter from the Biotechnology Industry Organization (BIO).  All the letters support “the guidance language that I hope that we maintain as we continue to move through the legislative process. … I feel that all of these materials are important to include as part of the record,” wrote Towns in his opening statement.

The bill is a major win for the rare diseases community.  “We were very pleased that so many Members of Congress spoke about the need to help rare disease patients during mark-up,” said Kakkis.  “The House’s version of the bill is more compelling to improve the use of a surrogate to determine if a treatment is effective, which is essential for diseases with very small patient populations.”  The Foundation is optimistic that the House version of the Accelerated Approval language, which is preferred by rare disease groups, will be retained during Conference Committee to ensure what is best for the patients.

Now that the bill has passed out of the Energy and Commerce Committee it must be voted on by the full House.  According to Chairman Upton, the bill will be on the House Floor for a vote before the end of the month.  “That will give us time to work with our good friends in the Senate to have this bill to the President before the 4th of July,” said Upton during mark-up.  The Senate and the House will pass separate bills; both bills are expected to pass without much difficulty.  The differences between bills will be negotiated during Conference Committee in June before it is sent to the President for his signature.

The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy.  We can do more with the science we already have and bring life saving treatments to millions of people suffering from rare diseases. 

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Contact: Julia Jenkins, Director of Public & Government Relations
Email:  jjenkins@EveryLifeFoundation.org    Phone:  415-884-0223

Patient Stories

of Hope and Inspiration

‘Meet Renae!’

I was symptomatic with Erythropoietic Protoporphyria (EEP) as an infant, diagnosed by a dermatologist at age 12, and have been coping with EPP  for 43 years.  I will attest to EEP being a nuisance, inconvenience, and painful reminder that I cope with during the warmer months in the Northwest; however, EPP does not define me.

Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX  and sensitivity to visible light.  My condition causes me to have elevated levels of protoporphyrin IX.  I am anemic, deficient in Vitamins C & D, and must continually keep an eye on my liver functions.

I work with a hematologist in keeping my iron levels high and receive iron infusions every 18 months. I have found that keeping my iron level within the low range of normal aids me in tolerating sunlight for longer and boosts my energy level.

This rare condition has made me an expert at diverting sunlight especially around reflective sand, snow, and water.  I choose to use humor to explain why I wear white cotton gloves, sometimes telling people I am a hand model and it’s an insurance requirement.

I may get looks when I white water raft in a full-body wet suit with a huge brimmed hat and handkerchief over my face, or scuba dive the Caribbean sea in a full wet suit, or wear a face mask while spring snow skiing, but these are adventures that bring me joy. I won’t let a rare disease steal my happiness!

I choose to participate in further studies of EPP and was blessed by getting the active drug of Scensse (afamelanotide). I look forward to enjoying more outdoor activities during daylight hours once Scensee is approved in the United States.

Coping with EPP limitations have helped shape me into a creative overcomer and advocate for my own health.

Renae Heineck
Newberg, OR

A DISEASE MAY BE RARE, BUT HOPE SHOULD NOT BE.

Patient Stories

of Hope and Inspiration

‘Meet Aamari’

Aamari Braijon Culbreath, was born on May 4, 2008, with lesions from head to foot.  After spending 10 days in the NICU, he was released home with a diagnosis of Langerhans Cell Histiocytosis (LCH) of the skin.

During the next two months, Aamari visited the emergency room at the hospital and his pediatrician weekly for severe vomiting, diarrhea and fevers.   His oncologist requested scans and biopsies be completed at which point they realized that his LCH has spread to his liver, spleen and GI tract, thus giving Aamari a new diagnosis of multi-system LCH. This was the beginning of our hell.

For the next 18 months, our angel, my daughter’s first-born baby boy, went through round after round of chemotherapy, hundreds of blood and platelet transfusions, CT scans, x-rays, biopsies, and a spleen removal.  Aamari also suffered from seizures, to which he was fitted with a helmet; received a port three times to administer medications and a g-tube button for feedings.  He was also diagnosed with failure-to-thrive (FTT),

In November 2009, he saw a Bone Marrow Transplant specialist (BMT) and was accepted on the list for a transplant — his only hope for survival.

The first week in January 2010, Aamari had a seizure and was admitted back to PICU.  He spent most of his last 18 months there, was placed on a vent, and provided morphine for comfort while they continued to run test after test on his little body.

He had succumbed to bleeding on his brain and as it had shifted, sepsis set in and there was nothing more they could do for my sweet grandson.  Aamari’s mother, my daughter, had to make the decision to remove him from the vent and let him go.

Aamari earned his wings on January 21, 2010.  He was an absolute joy, known for his kisses and winks by the physicians and nurses in the clinic and PICU where he spent most of his short life.

We had never heard of Histiocytosis until Aamari, our angel was given to us.  No mother should ever have to make this decision because there’s nothing left to do to save their child!!  We need parents, physicians, nursing staff, and the public to be aware of this horrible rare disorder that gets very little funding for research.

He was my grandson, given to my daughter to love and I got a double whammy!

God bless and spread the word!

Sharon Danners
Copperas Cove, TX

Editors Note:  The Hystocytosis Association is a great way to help support those with LCH, a rare disease with causes unknown.  

A disease may be RARE, but HOPE should not be.

Taking Rare Disease

To the White House

The Foundation for Prader-Willi Research (FPWR) and the Prader-Willi Syndrome Association (PWSAUSA)
have entered a video into Michelle Obama’s video challenge to fight childhood obesity.  You can view their video submission and help to spread the word about rare disease by casting your VOTE (everyday)
at “Take One SMALL Step.”

The following is a direct message from FPWR and PWSAUSA:

Help take PWS and Rare Diseases to the White House!  Click on the link below and click “Vote” for our “Take One SMALL Step” Video.

Vote now! 

After you click vote:

1)      You will need to register with your email address
2)      You will receive an email confirmation message
3)      In the email, you will need to click the link that says “Click here to confirm your account”

Help us win Michelle Obama’s Video Challenge and take Prader-Willi Syndrome and Rare Disease awareness to the next level.  As you know, Michelle Obama is promoting healthy eating and reducing childhood obesity.  If PWS receives the most votes, they will able to speak at one of Michelle Obama’s events and let the world know that PWS is one of the most common genetic causes of obesity.  We will also be able to make the point that the rare disease community is large when taken together.  Please vote daily to help us put PWS and rare diseases on the map!

If you still need some convincing you can read our top 5 reasons to vote PWS to the White House at FPWR Top 5 Reasons.

We can do this!

Vote now! 

Hope - It's in our Genes.

Rare disease is not so rare especially when you see the community come together like this. As we celebrate the the 5th Annual World Rare Disease Day 2012, we honor each of you in the Rare Disease community and all the sweet ‘Angels of Hope’ who have been lost to rare diseases.  Our efforts to spread your hope won’t stop today so please keep posting your Hope photos and stories on Facebook.  Share with your groups, foundations and friends.

Stay tuned for more as we continue forward in 2012. It’s Rare Disease “Every” Day for us!

Patient Stories

of Hope and Inspiration

‘Meet Cayenne’

My niece Cayenne has A-T (Ataxia-telangiectasia), a rare childhood, progressive and degenerative disease that affects a variety of the body’s systems.

After a year of testing, Cayenne was finally diagnosed when she was almost three. Her main symptom of A-T was her wobbly walk – she was very unstable and weak for her age. The diagnosis was devastating to her parents and family as there is currently no treatment or cure for this disease. Cayenne has no functioning immune system and her chances of getting cancer, such as leukemia are ONE THOUSAND times greater than that of the general population.

Most importantly, Cayenne is a vibrant, funny, beautiful red-head and my son’s best friend in the world. She is smart, kind and very silly. She loves pancakes and treats and playing superhero’s. She is loved, fiercely. Her parents and our entire family would do ANYTHING to help find a treatment and eventually a cure.

The A-T Children’s Project raises funds for biomedical research and clinical center. Please visit this website to read about the disease: www.atcp.org.  It is the ATCP where we continually seek hope and support for Cayenne and other children with A-T. It means everything to us.  To read more about Cayenne’s story or to make  a donation, click visit on our giving circles page and type in Jennifer Love (Cayenne’s mama).  Every single penny is an amazing gift and one that our family will forever remember.

Samantha Artruc
East Hartland, CT

Time To Live

Guest Blogger: Kevin Alexander, MA

Editor’s Note:  Kevin Alexander has Phenylketonuria (PKU), a rare inherited metabolic disorder.  Kevin shares with us his vision for a blog:

One vision that I have for my blog is for it to be a place where I can just be real with you. It’s all too easy to wear a mask. We do it every day; in some cases we just have to. But the last thing I want to do is write a blog where I just wear a mask, never admitting when things aren’t going well… Just plastering a smile on my face and pretending like everything is ok.

So I’m going to be real with you. It’s been a rough couple of days. I’m not talking about my diet here. I didn’t go off diet over the weekend or anything like that. But I’ve found when certain things in my life are out of balance it just makes things difficult. It becomes difficult to keep a positive attitude. I can’t control the fact that I have PKU. But rather than let that fact overwhelm and frustrate me I just accept it. And most of the time I’m able to keep a positive outlook on things.

You can read the rest of Kevin’s heartwarming and insightful blog HERE

“There are days that I struggle. That’s just life. Even if I didn’t have PKU that would be the case. But what keeps me going is my dream.” by Kevin Alexander

Contributed photo Jordan Wood gets ready for an endoscopic procedure, as doctors try to find out what foods the 5-year-old can safely eat.

Bands will ‘Rock the Cure’ this weekend

Read more: Richmond County Daily Journal – Bands will ‘Rock the Cure’ this weekend

R.A.R.E. Project would like to thank the Richmond County Daily Journal for reprint of this article and to Shire Pharmaceuticals for bringing to our attention.

On March 22, R.A.R.E. Project announced the amazing endeavors of Joe and Paul, two adventurists who planned to participate in the RickShaw Run to support Sanfilippo Syndrome with R.A.R.E. Project as their charity of choice.

On April 6  - Joe and Paul, a.k.a. team Cool Runnings, began their adventures in India to fight for the rare genetic disorder, Mucopolysaccaridoses or MPS III by  ”pimping-out” their RickShaw with the Rally for Reed and R.A.R.E. Project logos!

En route to their destination,  Cool Runnings has certainly proven their dedication and courage for charity and the rare disease community.  They have managed to get through the difficulties of driving in the dark; wait for and ride a precarious ferry; endlessly search for their meals at empty restaurants; and, discover what it means to be subject to false hotel advertising.