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.

Takeaways from the
World Orphan Drug Congress

R.A.R.E. Guest Blogger:  Eileen O’Brien
Director, Search & Innovation
Siren Interactive

The World Orphan Drug Congress, I attended in April consisted of three days jam-packed with presentations and networking. While the event focused on rare diseases and orphan drugs, the scope was still wide and addressed issues ranging from pricing to patient registries to various country regulations.

The highlights for me were the patient/caregiver testimonies scattered throughout the conference which reminded everyone why we were in the room. The presentation by Yi-Ou Wang from the nonprofit organization China-Dolls Fund was especially powerful as she described the lack of social awareness and support for rare diseases in China.

I had the chance to talk with a few empowered caregivers: Melissa Hogan from Saving Case, Lori Sames from Hannah’s Hope Fund, and Kelli Foster from The Mastocytosis Society. I was also pleased to finally meet two legends within the rare disease industry: John Crowley from Amicus Therapeutics and Pat Furlong from Parent Project Muscular Dystrophy.

Harmonization

The theme that was woven through many of the presentations was the idea of harmony—the state of being in agreement. Kinnari Patel, Bristol-Myers Squibb, started the first day by noting that harmonization across all rare disease stakeholders is essential for success. There are a variety of levels of harmonization required, and many of the speakers are working on facilitating these partnerships.

Harmonization between companies

Eric Mosbrooker from Alexion and Mahesh Kolar of Pfizer both talked about the benefit of “big pharma” and small biotechs partnering to bring rare disease therapies to market. Kolar noted that larger pharmaceutical companies can offer global reach, regulatory and reimbursement expertise and manufacturing capabilities.

Harmonization around research

Dr. Nurjana Bachman, Children’s Hospital Boston, discussed that academic medical centers are a place where collaboration is happening between research and industry. She noted that academia is successfully getting involved much earlier with drug development.
What will it take to create a sustainable orphan drug system? Wills Hughes-Wilson, Swedish Orphan Biovitrum, felt that collaboration and cooperation were essential due to the small amounts of rare disease data.

Harmonization on patient registries

Chairing a panel on patient registries, Furlong noted that with multiple drug companies having their own private registries for the same disease it’s very confusing to patients. The panel discussed the benefits that can come from sharing data. According to Dr. Richard Moscicki, Genzyme would be willing to partner with others and collaborate on registries.

Harmonization between governments

Yann Le Cam, EURORDIS, said, “rare diseases are an international public health challenge and need international collaboration.” He talked about the need to have more coordination between the FDA and the EMA. He is part of an international team working on collaboration on policy guidelines. Also needed are rare disease treatment guidelines, access to specialists, and patient and clinical data.

Harmonization with patients

Hans Schikan, Prosensa, talked about the importance of communicating with patients when designing clinical trials. Megan O’Boyle echoed the cooperative feelings of other patients in the room: “We want to help pharma help our kids in any way we can. We will give you our data and help.” O’Boyle has spearheaded the formation of an international Phelan-McDermid Syndrome registry, which in one year has signed-up almost half the diagnosed individuals.
The conference left me with the feeling that there is much work to be done, but also the sense of how far we’ve come. Angus Russell commented that it’s time for an industry shift to put patients at the center, which is reflected in Shire’s tag line “To be as brave as the people we help.”

Editors Note:  Eileen has more than 16 years of digital healthcare marketing experience. She is an opinion leader on social media, and has been invited to speak at industry conferences and quoted in publications. As @eileenobrien she moderates the #SocPharm tweetchat the first Wednesday of every month at 8 pm ET which discusses pharma marketing and social media. She can also be found on Google+.

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.

Getting Out

More than You Put In

A Guest Blog submission by:   The Afternoon Nap Society

It’s a matter of return on investment.

We give. We give our time, our energy, our talents. what do we get in return? What do we get out of what we put in? In love, in life, in our family, in our work, in our passions. There are the lucky ones for whom work — which brings the most concrete return on investment — also brings the esoteric returns: happiness, satisfaction, pride, accomplishment. And yet there are those for whom their passion brings these things while failing to bring in the necessary financial returns to continue doing them. How does one balance what one needs to do with what one loves to do?

A fellow health activist posed a question on Wego’s forum — how could she translate her passion for being a health advocate and helping others into a paying gig? I had no answer for her, short of being hired on to a pre-existing health advocacy organization or starting her own organization. Either way, she would need to be willing to work another job for income or do without income until the organization was well established enough to both generate finances enough to cover necessary advocacy expenses and pay a salary. Neither option is an easy go, and, of course, neither option comes with a guarantee of success.

Why does it have to be so hard for those who are willing to help to be able to help? Good help is hard to find, yet there is a talented bank of health advocates that is underutilized, or worse taken advantage of, simply because these advocates are patients. Patients who are health advocates most often do not come with degrees in social work, psychology, nursing, or adult education that are typically required of professional healthcare advocates. This lack of training is not an indication of a lack of ability; rather it is a result of the fact that many patients come into advocacy later in life. Patient advocates are motivated by their personal experiences. What they have to offer is a special insight into the disease process that can not be taught by any degree program. Their skills, cliché as it may be, come from the school of life and are therefore uniquely genuine. What technical skills are required of professional advocates — HIPPA compliance, conflict resolution, team building, medical coding, active listening, redirection, and so forth — can be taught from the book. No one can teach how to be a patient. Having been a patient doesn’t even necessarily mean that one is able to completely understand another patient’s experience. Yet having been a patient, having dealt with a disease, endows one with a degree of compassion and empathy that simply is not felt by those who have not suffered the disease at all.

Our healthcare system must make better use of this wealth of untapped resources. Bring these passionate advocates into the medical office. Put them to work. Allow a human connection back into medicine. We connect and communicate with stories, and as we are permitted to tell our story to another, we are suddenly made to feel less afraid, less alone because in that moment comes recognition of a shared narrative, in that moment “I” becomes “me too,” which is at least double the return on investment.

Editors Note:  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.

Breaking the Chains of Control

By R.A.R.E. Team Guest Blogger:
Vanessa Lemminger, M.A., IMF 68894
Marriage & Family Therapy Registered Intern

Control.

Merriam Webster defines it as, “to exercise restraining or directing influence over; to have power over; or to reduce the incidence or severity of especially to innocuous levels”.

Control is found in almost everything we do.  We control our appearance with control tops, supplements, and diets.  We control our pets and children with leashes and boundaries in hopes to reduce harm.  We control our finances with savings accounts, retirement funds, and investments.  We attempt to control our health with vitamins, preventative medicine, and doctor visits.  We control the events in our lives with schedules, planners, and lists.  Sometimes we even control our lists with more lists.  An even greater example of this desire for control can be found in the field of genetic engineering, where we have created near perfect produce, plants, and cloned animals.  Depending on how much money one is willing to spend, there is also the opportunity to choose which favorable traits one want to pass on to their unborn, yet to be conceived, child. Humans are creatures of habit and pattern, which are reinforced by the ability to control various elements from our environment to fit into those habits and patterns.  Control also creates a sense of safety through predictability.  When we can alter or restrain our surroundings, we can create an ideal environment where we are better able to predict what the outcome of each situation will be.  We feel safe when we know what to expect.

Life.

Merriam Webster provides one definition of life as “the sequence of physical and mental experiences that make up the existence of an individual”.

Here is where I would need to correct or adjust Merriam Webster’s definition to include descriptions such as: chaotic, spontaneous, adventurous, and full of surprises.  Life should really be an antonym for control.  No matter how much we attempt to control the events of our life, there will always be something that is beyond our reach.  Let’s be honest, trying to control and predict how life will unfold is similar to herding a pack of stray cats in a dark room.   I wish you the best of luck, and urge you to bring some band-aids.

Despite knowing how chaotic life is, we still try to control as much of it as we can.  It almost seems as if the more chaotic life gets, the more control we try to gain.  We end up either completely exhausted after multiple, failed attempts to control the uncontrollable, or our attempts to control morph into a maladaptive habit that consumes the large majority of our lives.   Each extreme leaves one feeling completely enslaved by the idea of control.  The key to gaining back our freedom is to forget that the chains even exist.  We should focus our energy on battling the need to feel in control because, as we know, most things in life do not work this way.  We need to learn how to let go of what is uncertain in life and trust in our ability to navigate successfully on our own.

Freeing the chains of control that hold us down is not always an easy task.  There may even be a time when we don’t even recognize the ties that pin us down.  Start by breaking the situation down into more simple pieces.  Find the situation that gives you the most stress.  Why does it cause you stress? What do you do when the anxiety starts to set in? Then ask yourself the important question of, “What does this behavior serve? What do you gain from it?” Instead of spending an immense amount of time on attempting to predict and control results, we need to learn to feel comfortable saying, “I don’t know exactly how things are going to work out”, and learn to feel more confident that we have the strength to move forward, even in the hardest moments.  Focusing less on outcomes will allow us to spend more time enjoying the process of living.

YOU CAN FOLLOW VANESSA LEMMINGER’S BLOG AT:  HERE

Vanessa Lemminger, M.A., IMF #68894
Marriage and Family Therapy Registered Intern
www.matthewbruhin.com
Employed and Supervised by Matthew Bruhin, MFT, RAS, CAS – LMFT #47460

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.

Patient Stories

of Hope and Inspiration

‘Meet Tylor!’

My name is Leah and my son’s name is Tylor who was born with 1p36 duplication. He is 20,000 base pairs away from any others on record to-date. He is case one of one and we have recently celebrated 10 amazing years with my little man!

Tylor was given a low chance of survival after discovering two congenital heart defects in utero. It was not long after this discovery, our physicians realized he wasn’t growing nor was I producing enough amniotic fluid.  After almost running completely out of the amniotic fluid, Tylor was born underdeveloped and premature at  7 weeks via emergency c-section.

Tylor was quickly transported to Children’s Hospital of Philadelphia (CHOP) for his first heart surgery and he struggled.  His lungs collapsed, he was unable to gain weight, developed an infection – but, he fought.  He fought hard! We were able to go home when he was about 2 months old, only to find ourselves back a week later at CHOP with congestive heart failure.

Tylor recently underwent another surgery, one of many he has experienced in his short life.  His surgery went very well with a little hiccup in recovery due to a major asthma attack from anesthesia.  He recovered well after they got him stable and breathing again. A pulled tube the next morning had us rushing back to the hospital, but has successfully kept the other tube in for over 2 months. His one eye is recovering well and we look forward to fitting him into glasses soon and removing the tube.

Tylor's Tenth Birthday!

Aside from all of his continual medical experiences, Tylor continues to fight and grow. He is strong-willed, inquisitive and generally a happy guy. I have been so very blessed to have been given the chance at 10 amazing years, years many doctors believed I would never have with Tylor. I cherish each and every moment with him – even the rough ones. I truly believe now that we will see many, many more years to come.

Research and medicine have come so far, and I thank the medical community and organizations like the R.A.R.E. Project that support the much-needed research for my 10 miracle years!

Leah Tucker
Milwaukie, OR

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

Local Leaders Program

We are very excited to announce the roll-out of RARE’s new community support program “RARE Meetups and Local Leaders.” The very first RARE Meetup will be held in the South Orange County area (Southern California) on Thursday, May 31, 2012 from 10:00 a.m. to approximately 12:00 noon. All those interested in attending a South Orange County group, as well as advocates who are interested in starting a group in their local area, are welcome. Please RSVP your attendance to Christie at christied@rareproject.org.

Rare Meetups exist to connect rare disease patients and parent advocates locally, regardless of disease, in order to support and learn from one another. The need for collaboration within the RARE Community is critically important and RARE Project would like to help facilitate that collaboration with three goals in mind;

1) to connect,
2) to support,
3) to learn best practices and to share successes.

Local Leaders are individuals who would like to help facilitate meetings, activities and events. Local Leaders serve as an extension of the RARE Project. They understand the mission, its role in the rare disease community, and they bring that vision locally. Local Leaders focus on collaboration with specific disease foundations, and foster a sense of community with these foundations.

RARE Meetups and the Local Leader program are not designed to take the place of, or to compete with any disease specific foundation, their goals or activities, but rather to enhance communication and to create collaboration broadly within the RARE community.

For more information please contact Christie at christied@rareproject.org

Bike for KAM

It’s not about finding the cure, it’s about funding the cure.

and Paving the way for treatment.

In 2004, my physicians in Michigan told me I had no hope.  I was told I would never meet another Hereditary Inclusion Body Myopathy (HIBM) patient nor would I see research being done in my lifetime. My disease was too rare.

I moved to Los Angeles in 2006 for my design career and by chance read an article about two individuals , both of which were diagnosed with HIBM. Remarkably, not only were they brothers, they were medical doctors and research scientists as well. More than ten years ago they had started a nonprofit organization dedicated to raising awareness in both the public and scientific communities, naming their organization Advancement of Research for Myopothies (ARM).  ARM has been the primary reason for scientific development of Hereditary Inclusion Body Myopathies.

Since ARM began, Dr. Daniel Darvish has pioneered amazing developments in treatment through their own nonprofit molecular laboratory. Current initiatives of ARM include real treatment hypotheses waiting to undergo human trials and possibly gene therapy for HIBM where hopefully, individuals with HIBM will once again be able to use their muscles.   Of course, the limiting factor in moving forward with these initiatives is always lack of funds and awareness.

After meeting ARM more than 6 years ago, I started working with them as their creative director building their branding image and expanding outside their founded community. I’m also a strong patient advocate for HIBM and rare disease and blog – illustrating my way through the condition. Last year, I decided to start my own grassroots fundraising chapter with my friends, thus “Bike for Kam” was created.  In an effort to raise funds and awareness, my friends rode their bikes 500 miles, from  San Francisco to Santa Monica. We raised over $23,000 online, with 100% of the funds raised sent directly to HIBM for medical research.

Our goal this year?  $40,000.  The trip starts on May 12, 2012.

Hope to see you there! – Kam

For more information, please visit our Facebook page: Bike for Kam.

Click HERE for event details and to visit our website:

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. 

————————————

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

What is Normal?

Guest Blogger: Kevin Alexander, MA

If you’ve read my blog these last few weeks you know it’s been a crazy time in my world recently. But things seem to be returning to normal.

I say “normal”, but what is “normal”? I mean, some things are fixed and certain. The sky is supposed to be blue. If one day the sky turned green or purple, well then that would just not be normal. Obviously that’s a silly and extreme example, but you get my point. It’s easy to know what “normal” is on some things.

But when it comes to feeling accepted by others as a “normal” person, well, to me that’s a different story.

As anyone with PKU, or any rare disease for that matter, knows, it can be extremely difficult trying to fit 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.

Patient Stories

of Hope and Inspiration

‘Meet Barbara!’

On most days, Vascular Ehlers Danlos takes a back seat in my life, thanks to a magical creature continually by my side.   Twiggy.  Twiggy, a Unicorn for Vascular Ehlers Danlos Awareness can be found on my Facebook Page HERE.

Twiggy, as seen on my lap in this picture, snuggles and holds on until I feel better.  No matter what happens as a result of my illness, with Twiggy, everything seems to turn out ok.   Like everyone else with Vascular Ehlers Danlos (VEDS) I pray for a treatment, if not for me then for my children who both have inherited VEDS.  As one of the first members of the National Ehlers Danlos Syndrome Foundation, I am the first to suggest their organization when seeking support and important information related to VEDS.

Vascular Ehlers-Danlos syndrome (or vascular EDS) is the disorder of the body’s connective tissue, the material between the cells that give the tissues form and strength. In vascular EDS the body lacks sufficient type III collagen. This is a molecule that contributes to the strength of our skin, intestines, uterus, and most importantly, the blood vessels. We know there is the risk of dying from this condition from childhood to adulthood. We know there are no effective treatments to date. There are no medications to strengthen the tissues or prevent blood vessel ruptures. Surgical technique is often delayed unless there is knowledge that we will die within hours if nothing is done. The tissues are so weak that they fall apart.  The bleeds we experience are very painful. We have what we term ‘cigarette paper’ skin with scars and tears from everyday things like paper cuts which become gaping wounds. We bleed at the joints and experience chronic pain and fatigue.

Recently, I lost another precious family member.   I wonder why I am here at age sixty and she is taken from us in her thirties.  Too many people have suffered and left their lives before me.  Twiggy is my magical creature, but what would be more magical is knowing their is treatment available for my children and all who suffer from this life threatening disorder.

Barbara Bellehumeur
State College, PA

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