Clinical Trials for Rare Disease Patients – Legislation needs your support!

We wanted you to be aware of pending Federal legislation that may be significant for you and for our rare disease community. In June, legislation that enables individuals with rare diseases to participate in clinical trials without losing eligibility for public healthcare benefits was
sponsored by Senators Ron Wyden (D-OR), Christopher Dodd (D-CT), Richard Durbin (D-IL), James Inhofe (R-OK), and Richard Shelby (R-AL), and Representatives Edward Markey (D-MA) and Cliff Stearns (R-FL).

Current law prevents many people who receive Supplemental Security Income from accepting research compensation because it makes them ineligible to receive government medical benefits. This penalty stops significant numbers of people with rare diseases from participating in clinical studies.

The 2009 legislation is supported by over 100 patient support and advocacy groups, including the Children’s Rare Disease Network. A letter sent to Representatives Markey and Stearns reads, in part:

“The undersigned organizations, representing millions of Americans with rare and genetic conditions, strongly support H.R. 2866, the Improving Access to Clinical Trials Act of 2009. We appreciate your efforts to remove the regulatory barrier that prevents Social Security beneficiaries from participating in clinical trials that provide compensation. The fear of losing Medicaid coverage is a strong disincentive for Social Security beneficiaries to participate in these clinical trials.

This problem is a barrier for people who wish to participate in clinical trials. For example, a high percentage of people with cystic fibrosis (CF) are needed to enroll in the large number of CF clinical trials in the pipeline, but many CF patients who are on Social Security cannot participate
because of this regulation. With the efforts to develop new therapies to treat more disease, it also could impact 30 million Americans affected by one of the nearly 7000 known rare and genetic conditions.”

Please see http://www.govtrack.us/congress/bill.xpd?bill=h111-2866 for current status of the legislation and a list of current co-sponsors. If you feel you can, contact your representatives and senators and let them know you support this bill. Thank those who have already signed on and encourage those who have not yet signed on to do so.

Their telephone numbers can be found at:

http://www.usa.gov/Contact/Elected.shtml.

Thank you for your support!
Children’s Rare Disease Network

AT Children’s Project Takes To The Seas – ‘Transat Sail Race’ creating greater awareness for Rare Disease

Rémi Aubrun, a sailmaker, innovator, and skipper, departed France on September 13, 2009 in a sailing race called the “Transat” in honor of Caroline Corre who has A-T. The proceeds from his sponsorships will benefit the A-T Children’s Project.

The Transat 6.50, previously known as Mini Transat, is a grueling, transatlantic solo race of 4,200 nautical miles from Charente-Maritime, France to Funchal (Madera Island, Portugal) to Salvador de Bahia, Brazil.

Racing single-handedley with little or no sleep for about 30 days, in dangerous conditions, without any support or backup, makes this one of the most challenging ocean races. Competitors usually hand steer for about twenty hours a day, only leaving the helm to eat, rest and navigate.

Passion and willpower are two qualities that characterize Rémi. He started early on with his passion for sailing and graduated from Les Glenans sailing school. In 1990, he left for Australia, where he learned his current profession, sailmaker. In 1992, he became the sailmaker for the French and Italian America’s Cup teams. In 2006, he and a friend built a prototype and raced several regattas, and in 2007 his friend raced the Mini Transat, finishing 12th out of 89 participants. This year it’s Rémi’s turn, and he’s named the boat the “A-T Children’s Project”!
Please take a look at this short video footage of the boat cutting through the waves:

Be a voice for rare disease, your vote helps get the Children’s Rare Disease Network to Blogworld.

Please vote for the Children’s Rare Disease Network, vote at Name Your Cause.

No registration required.  Voting ends on September 22, 2009, and you can vote as often as every 4 hours.

Votes help the Children’s Rare Disease Network get to the Blogworld and New Media Conference in Las Vegas (October 15-17, 2009).  This year they have a Cause and Activism track – any time we can learn more about how to use new media to further our cause, that’s exciting!

The top 10 causes will get a free pass to the Activism track and will be featured in the eBay/Pay Pal Cause Pavilion.  The top three will also get a $500 travel voucher.

We only have a few days so please vote often and forward this link to your family and friends. Thanks!

Dr. Francis Collins, NIH Director – Meeting of the minds!

The Children’s Rare Disease Network was fortunate to be included in the first formal meeting organized by the new head of NIH, Dr. Francis Collins and his team. Allison Young, Founding Member and Legal Council, represented CRDN for these discussions, and reports below.  http://videocast.nih.gov/ram/constituents090909.ram

Dr. Collins provided insight into how he perceives NIH should focus its attentions, and specifically on 5 areas that he sees as opportunities for NIH to help improve the quality of health and patients’ lives and forward the mission of NIH and it’s 27 Institutes.

At the outset, he wanted to reassure the community that he is committed to having NIH focus, once again, on truly supporting Investigator-Initiated Research. Over the years from ’03-’08, as an example, you had only a 1 in 5 chance of getting any funding, NIH support was focused on “Big Science”, and individual investigators were expected to have already done their experiments prior to submitting grant applications. Dr. Collins said that would no longer be the case and that significant attention would be given to supporting individual investigators. Dr. Collins also noted that for every $1 NIH awards, $2 are generated in the economy within the first year and each grant NIH awards creates, on average, 7 jobs. In response to some questions/statements from the audience about compelling grant proposals that were not given an award, Dr. Collins also pointed out that when it issued the call for Challenge Grant proposals, it expected to receive between 2 and 3 thousand; they received over 21,000 proposals, meaning the money NIH had for Challenge Grant Awards was used up by 3% of all the proposals received.

Before I lay out the themes he identified, I want to make sure to pass along this email address to you. NIH has created a specific email that Dr. Collins wants comments or questions or areas of concern from the community to be sent to, and he promises that he, and/or the Directors of all 27 NIH Institutes (where appropriate) will, at a minimum, read them and endeavor to do their best to provide at least some sort of substantive response to the sender. That site is NIH-LISTENS@nih.gov.

Another new tool NIH now provides via its website is called RePORT. You can use this database to see what NIH is funding and supporting. You can query in a variety of methods, including funding mechanism, Award Type, NIH Institution, all the way down to the individual grant.

The 5 areas of opportunity (one-two in particular are exceptionally relevant for us and our community), where NIH is making a commitment to the constituents:

1. Genomics. Obviously, as the former head of the Humane Genome Project, Dr. Collins understands the incredible importance in supporting and promoting research and developments in the area of genetics, including personalized medicine. He noted that supporting research into rare genetic disorders often has much broader implications. As an example, he noted certain projects such as the Human Microbiome Project and a project to map the various already identified cancer tumors in ovarian and brain tumors to create a catalog of all the genetic anomolies found in these tumors to better under and identify them and eventually craft diagnostics and therapeutics to the underlying genetic compositions. In this discussion (and for the point below) he made special note of the role of rare diseases and discoveries and advancements in rare (and particularly rare genetic) diseases for other diseases on the whole (I think we should send the story of the Hempel Children and the cyclodextrin example to the NIH-LISTENS website to meet one of his assistance requests – more on that below).

2. Translational Agenda. NIH has traditionally been dedicated on the basic scientific research side, but there is a commitment to be see this research and findings regarding diseases and these discoveries turned into actual therapeutics. In this, Dr. Collins discussed the TRND Program (The Rare and Neglected Diseases)…whereby NIH will partner with private companies to see research, particularly related to rare diseases, and whereby such companies need financial support/partners to turn these discoveries into therapeutics, actually translated in applications. In particular, he mentioned biologics, stem cell technology, gene therapy, IPS cells used to create therapeutics,etc. I believe this is an area that would be of importance to our community, and where if some of our diseases/families feel they are at a breakthrough where they could use additional dollars to turn research into treatments, they could apply to the TRND program.

***NOTE: Dr. Collins did not address this in his speech, but I want to interject and point out another NIH tool related to Rare Diseases that I found while poking around the NIH website. If you go to http://rarediseases.info.nih.gov/GARD/, this will take you to the home page of the Genetic and Rare Disease (GARD) Information Center, which is comprised of 2 NIH agencies, the Office of Rare Disease Research (ORDR) and the National Institute of Human Genome Research (NHGRI). In particular, through the GARD agency, they have a program for undiagnosed conditions, known as the Undiagnosed Disease Program: http://rarediseases..info.nih.gov/Resources.aspx?PageID=31.

3. Health Care Reform. NIH believes that one way to help with the issue of health care reform is through comparative/effectiveness research, in particular, also supporting research into alternative treatments, and/or current treatments for other conditions not traditionally treated with such. NIH plans to support pharmacogenomics and Personalized Medicine, social/behavior research (i.e., patient compliance, acceptance of alternative forms of treatment), and health care ecomonics, for example via creation of payment incentive models.

4. Global Health. NIH believes that research and information on third world diseases have application on a greater scale for other therapeutics, and plans to work more with organizations such as WHO and the Gates Foundation on global health issues.

5. Empower the Biomedical Research Community. NIH strongly believes that we must organically grow our talent in the biomedical fields, and help invigorate and encourage people to pursue careers in the field.

Dr. Collins also noted that he is commited to funding research that doesn’t fit precisely into an institution so that those areas of research don’t fall through the cracks. They have created a number of awards programs to target those areas, such as for Pioneer awards, Innovator awards, Transformers NO1 awards, etc.

He also noted that NIH received $10B from ARRA (the recovery act), another $10B in general funds and $400M for comparative/effectiveness research.. Dr. Collins claims his #1 priority is getting grants funded.

Dr. Collins also asked the community to help NIH. The key areas he wants to get feedback/assistance on are:

1. How to create a unified voice to support, and explain, the importance of medical research, and translational research

2. New ways to describe NIH’s research and what NIH is doing/achieving

3. How to keep communication channels open between NIH and the constituents

Allison Young
Children’s Rare Disease Network

NIH Dir. Francis Collins on Science Friday today at 2 PM ET.

Ira talks with Dr. Francis Collins, incoming director of the National Institutes of Health, about research priorities for the years ahead on Science Friday today.

http://www.sciencefriday.com/

Save the Date! Conferences of interest to parent advocates!

Here are some upcoming conferences that parent advocates and advocacy groups might be interested in:

Gov 2.0 Expo in Washington, DC on September 8, 2009.

The FEAST Conference in New York City, NY on October 1, 2009.

American Academy of Pediatrics in Washington, DC on October 17 – 20, 2009.

Bone and Joint Decade Global Network Conference in Washington, DC on October 21 – 24, 2009.

Burrill Personalized Medicine Meeting, San Francisco Nov 10 – 11, 2009.  http://www.burrillandco.com/personalized_medicine_2008/

Partnering for Cures in New York City, NY on December 1 – 3, 2009.

TED2010 in Long Beach, CA on February 9 – 13, 2010.

National Summit on Disability Policy in Washington, DC on July 25 – 27, 2010.

No time or money for travel, see PALS for informative monthly webinars and Personal Democracy Forum for amazing teleconferences/podcasts.

Catherine Calhoun

Undiagnosed Disease Registry – Take Action!

There are experts that say 30 to 40 percent of children with special needs do not have an exact diagnosis. This to me is a guess and we cannot fully appreciate the prevalence of the undiagnosed situations that many children face, until there is an opportunity to collect and share data about children that are faced with many signs and symptoms where a diagnosis hasn’t been determined.

Without knowing the prevalence of undiagnosed children, they will not get the attention they deserve. Children will continue to face some very serious medical problems without any information that may guide the doctors to a treatment. The effects of undiagnosed conditions on a child can range from mild issues to very serious issues that can even cause death. We may not know if the issues or deaths could be prevented if a diagnosis was determined beforehand. We shouldn’t have to wonder if a child’s death could have been prevented by knowing what the diagnosis was.

Such as in the case of Cal who was a five year old boy, whose mother had to watch him spiral downward for three years until his death just after his fifth birthday. After the death of Cal, Heather searched for answers to what mysterious disease caused the death of her son. After discussions with others the thought of a database to collect and share undiagnosed cases was prevalent in her mind. She set out to see how to get such a database to become a reality, in the name of her son Cal, an act was brought to the US government. The Charles August ‘CAL’ Long Undiagnosed Diseases Registry Act of 2009 was introduced to the US House of Representatives, and is waiting to reach the floor for a vote. Read this in the News

The registry will not change the outcome for Cal, but a diagnosis even after death can help the family know whether this can happen in their family again. It may also help many other children experiencing the affects of an undiagnosed condition, like Elijah who was recently in the news. He is two year old boy who has no diagnosis for his many signs and symptoms. Read this in the news.

The registry will create opportunities that could allow for better chances to make a diagnosis or connect undiagnosed cases that are similar. The registry will not only have great potential for doctors to gain more information that will allow them to better treat a child’s condition, it also has the potential to save a great deal of tax payer money.

Many children with special medical needs are covered by variety of government insurances. Children with undiagnosed conditions are seeing many doctors and having many tests. Such as in my own daughter’s case, Lorna is 13 and has the affects of a undiagnosed syndrome. I have kept track of her many specialty appointments and tests since she was born, she is up in the 200’s now. There is no question that children like my daughter will be seen by a lot of doctors and have many tests anyway but there is a good chance that many doctors’ appointments could be prevented by having a proper diagnosis and a better understand for what is affecting the child.

It will be a combination of programs and opportunities that will create better opportunities for those with undiagnosed conditions to get a proper diagnosis. Just last year the Undiagnosed Diseases Program at the NIH was started to begin researching these cases bringing professionals together to discuss one case at a time. This was the beginning of changes, now is the time to step it up with the registry and start moving toward bigger changes.

You can read the bill language here.

These are the key pieces of the bill.

1.    The Secretary, through Center for Disease Control and Prevention (CDC) shall establish and maintain a undiagnosed disease registry.

2.    The Secretary shall include in the registry the information that they deem appropriate, relating to undiagnosed diseases.

3.    The information will be public, but will not publicly disclose identifiable information or trade secrets.

4.    There will be designated $5,000,000 for 2010 and may be needed for following years of 2011 through 2015.

5.    The Health and Human Services shall see that it becomes operational no later than a year after enactment.

If you feel strongly about this bill you should voice your thoughts to your representative. You can find who your representative is and how to contact them by going to The United States House of Representative’s website at www.house.gov.

Amy Clugston, mother and director, SWAN

Bill Cassidy R-LA shows interest in supporting rare disease

Last week my family talked one-on-one with our representative (Bill Cassidy R-LA). We met up with his assistant as we walked in, and he got us situated in a quiet corner of our local town hall. We watched as people streamed in for Dr. Cassidy’s “Town Hall” meeting, standing room only. I was a little nervous but excited too. After a few minutes, Dr. Cassidy came over to meet with us.

After all around introductions, he asked what he could do to help. I explained my son’s health condition, McCune-Albright syndrome (MAS/FD), and how its rarity makes care particularly challenging. We have no “best practices” or consensus among doctors on how best to treat his bone disease (fibrous dysplasia). Billy’s pain medicine is an “off-label” use. His titanium rods, one in each femur, are “off-label” – no one can gather scientifically valid information from his care because his condition and care change so rapidly (pharmaceutical companies cannot promote off-label use of his pain medication, etc.). I said things like “misinformed care happens all the time in the United States and world and actually hurts kids – worsening their bone disease for life. Anything Congress can do for bone health, specifically rare bone diseases, would be fantastic.”

Dr. Cassidy did not miss a beat. He seemed to “get” what I was saying which is really saying something because MAS/FD is a complicated multi-system beast, even for a hepatology/gastroenterology medical fellow like Dr. Cassidy. He was deferential to our expertise. He was strong in his appreciation for the overall situation and our passion to not just help Billy – we want to improve medical care for everyone. Honestly, it was better than I expected.

This week thank you notes have been sent. And I am hoping that this is just the beginning. I hope to schedule a call with Dr. Cassidy and a few other fibrous dysplasia folks soon. Also, I am penciling Dr. Cassidy in for (1) future bone health initiatives and (2) my February 2010 “Care about RARE” party.

I prepped for our meeting with a great web/teleconference hosted by the Patient Advocacy Leaders Summit (PALS). While the conference topic was specifically on healthcare reform, I found several of the advocacy tips offered by Ron Christie of Christie Strategies helpful for my introductory meeting with Dr. Cassidy. His tips include (1) knowledge is power, (2) don’t be shy, (3) contact your congressional leaders locally and in Washington D.C., (4) reach out as part of a larger patient group, and (5) write letters to your local newspapers because your leaders read these papers to see what issues are important to constituents. Mr. Christie referenced Roll Call, Politico, and The Hill as great sources for up to date information on politics.

Another presentation that I found helpful can be found at Resource Repository. Parent advocate, Melissa Perez, shares an amazing story on a budget crisis that threatened regional genetic centers in Florida and offers lots of insight into the advocacy process. Because I am a big nerd and take notes whenever I watch things like this, I am adding “don’t assume someone else will do it” and “remember why you’re doing the advocacy” to my bulletin board notes posted for everyone to see – well, everyone in my kitchen.  Thank you Melissa!

Catherine Calhoun

Nominate Your Rock Star of Science!

Geoffrey Beene Gives Back®’s hip new campaign, “Rock Stars of Science” (a.k.a Rock S.O.S) is making its mark, and The Children’s Rare Disease Network is proud to be affiliated with this important initiative!
Geoffrey Beene Gives Back® teamed up with GQ Magazine to create a philanthropic campaign pairing A-list rock stars and celebrities with the country’s leading Medical Researchers to:
• bridge the recognition gap that makes Britney Spears more influential than Stephen Hawking
• celebrate America’s most important Scientists
• heighten public awareness of the dire need for additional funding for scientific research
• gain recognition for the breadth of Geoffrey Beene causes
• collect signatures in support of a trip to Capitol Hill on September 24th to meet with House and Senate leadership to further these goals
We are asking you to do two things – Please sign the Rock S.O.S Declaration (hyperlink to: http://www.rockstarsofscience.org/declaration.asp), a simple way to show our community support and Nominate Your Rock Stars (hyperlink to: http://www.rockstarsofscience.org/nominate.asp) today! Let’s do it!!!

Mito What? Mitochondrial Disease and it’s Impact, one families story

Mitochondrial disease is a life-threatening metabolic disorder that affects the body’s ability to convert food into energy. The mitochondria are a separate strand of DNA, which exist in every cell except red blood cells, and are responsible for producing 90% of the body’s energy. Individuals with mitochondrial disease can suffer devastating effects from a simple cold or flu, even death.

I can quote the above paragraph in my sleep. I don’t even have to look up the spelling of “mitochondria” anymore. My adorable twin daughters, Julia & Maya, were diagnosed with mitochondrial encephalomyopathy on April 23rd, 2009, shortly after their 4th birthday. I have become a different person since the moment I received that email. Yes, an email.

My memorized paragraph says so much and yet so little. It describes what mitochondrial disease is, but not what it is to Julia & Maya. For them, mito takes its toll on a daily basis. Their compromised energy levels hinder everything from growth to body temperature. Maya once lay listless in her crib for over two weeks, barely eating or drinking. She had gained four pounds in that time: a simple growth spurt rendered her incapable of moving for two weeks. My daughters also over-heat very easily. They “wilt” completely because they do not have the energy required to maintain body temperature.

What mito means to me is almost impossible to describe. My daughters cannot speak or communicate, because their brains are not getting enough energy. I never know if they can walk from the car to the inside of a store to get into a shopping cart, making it difficult for me to take them anywhere alone. They cannot dress or bath themselves, use utensils, get into the car, or express basic needs. They are not potty-trained. I know that when they become listless, over-tired or over-heated, there is a chance that the energy drain is causing damage to their brains & other organs. I have to constantly monitor heat and excursion to keep them healthy.

What mito means to my family is overwhelming financial stress. Julia & Maya require expensive supplements to aid their absorption of nutrients and supply energy. We pay $500 monthly for these supplements, which are not covered by our private insurance or Medicaid. Neither is the tandem wheelchair I need to transport both girls in case of an emergency. Tandem wheelchair pricing starts at $3000. We paid over $10,000 in medical co-pays and deductibles this year alone.

But most important is what Julia and Maya mean to me. They are the smiliest little rays of sunshine to ever have walked this earth. They are loved. Dearly, deeply & wholly loved.

Gina Gareau-Clark
www.juliaandmayaclark.com
For additional mito resources www.umdf.org and www.mitoaction.org