The Tour de France and Testicular Cancer

We tend to focus a lot on rare genetic disorders, and with good reason as most of the 7,000 rare diseases are genetic disorders affecting children (75% of rare diseases affect children and 30% of rare disease patients die before the age of five). However, I want to talk with you today about another type of rare disease because it came to my attention on Friday, and the experiences of the boy in this story are no less profound and poignant than the others we discuss here on these blogs:

Age: 25 years old

Insurance Status: Uninsured

Diagnosis: Metastatic Testicular Cancer (Nonseminomatous germ cell tumor)

Testicular cancer was made “famous” by the great Lance Armstrong; here an incredible athlete who won the Tour de France a record seven consecutive times had testicular cancer that metastasized to his brain and lungs. Armstrong beat the cancer, and shortly thereafter founded the Lance Armstrong Foundation (remember all those yellow LIVESTRONG bracelets) AND returned to the Tour de France in 2009, after four years of retirement, taking third place. [Side note: The 2010 Tour de France ended today, July 25, and was won by Alberto Contador for the third straight time.]

Testicular cancers are incredibly rare, as they account for about 1% of all cancers in men, and less than 8,400 cases are reported annually in the United States; testicular cancer is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). Generally speaking, testicular cancer is one of the most curable forms of cancer. There are nearly 170,000 men who have survived testicular cancer in the United States.

However, the boy mentioned above has Stage III testicular cancer, and now needs more than just another round of chemotherapy for a glimmer of hope. He needs an experimental autologous cell bone marrow transplant. Transplant services are usually not covered under Medicaid or Emergency Medicaid. The Temporary High Risk Pools are not set up everywhere yet, and even so the patient may not be eligible due to immigration status. There are only so many comprehensive cancer centers that are able to do such a procedure, much less one that would be willing to do it as “charity care”. I spoke with the National Marrow Donor Program and the Be the Match Registry to see if they could provide any resources, and they told me they mainly only work with patients in the leukemia and lymphoma society…

I share this story because it highlights the importance of the work that we all do, through alliances and partnerships of different patient Foundations, and the advocacy we facilitated towards passing health reform legislation. But our job is not yet finished. There is much more work to be done, and there are still patients who slip through the cracks. The system is not meeting the needs of patients with rare diseases and complex illnesses. What recommendations and solutions can you offer? Speak up, we need you.

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In the news:

You can read the testimony of Diane Edquist Dorman, Vice President for Public Policy of the National Organization for Rare Disorders (NORD), before the Senate HELP Committee on July 21 at their hearing on “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures.”

A congressional caucus is a group of members of the United States Congress that meets to pursue common legislative objectives.  A Rare and Neglected Diseases Caucus has been formed in the US House of Representatives by Congressmen Joseph Crowley (D-NY) and Fred Upton (R-MI).  To find your representative’s phone numbers, you may visit http://www.house.gov, use the searchable online congressional directory at Congress.org, or call the U.S. Capitol Switchboard at (202)224-3121 and ask for your representative’s office. Remember that telephone calls are usually taken by a staff member, not the member of Congress. Ask to speak with the aide who handles health care issues, or the health legislative assistant. Nord has also provided a Dear Colleague Letter which you may be interested in sending.

RareArtist.org was created by the Kakkis EveryLife Foundation for artists affected by a rare disease. They received many exceptional works of art during their inaugural EveryLife Art Contest which inspired them to create a venue to display this art and invite others to upload and share their art. Cick here to check out the RareArtist Gallery.

MarbleRoad is planning a launch and fundraising event October 9, 2010 in Washington, DC. Save the date! The fundraising portion will feature an art auction of several professional artists, each who have a compelling story to share related to complex illness—from cystic fibrosis and organ donation to transverse myelitis and RSD/CRPS, and much, much more. Proceeds will be used to provide financial assistance and support services to patients with complex illness. Please stay tuned for additional information. If you have any questions please contact Howard Liebers.

Children’s Rare Disease Network Partners With Medpedia.com To Create Rarespace

Online Knowledge Share Platform to Provide Valuable Information to Rare Disease Community

Dana Point, Calif. (June 29, 2010) – Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with R.A.R.E. Project, the Children’s Rare Disease Network and Medpedia.com to help grow resources for children with special needs. This resource is available online now at RareSpace.

“RareSpace is a unique and valuable tool for families caring for children with rare diseases,” says Jonathan Jacoby, CEO of the R.A.R.E Project. “With the help of Medpedia.com, RareSpace will become a safe place to share important information aggregated from the rare disease community at large, which is vital to finding hope for children.”

It’s the collaborative structure of RareSpace that makes it truly unique. The site will educate and connect users about critical resources, innovations in research, standards of care as well as best practices in treating rare diseases and disorders. Creating a community filled with medical professionals, policy advocates, researchers and parents catalyzes a free exchange of information, increasing the general knowledge quotient of every stakeholder. The goal is to supply real resources and connections for those who are in the care of children living with rare diseases and disorders, and help each family not feel isolated in their struggles to care, treat and advocate for these sick children.

“It’s so critical for families and caregivers to have a knowledge bank like RareSpace to draw from,” says Devon Watts, community manager at Medpedia.com. “We are excited that Medpedia.com is a part of connecting a community and granting an open space for dialogue and education. It’s the widespread sharing of information that will benefit patients most.”

Different from other community sites, one key advantage of RareSpace is that people can share documents and resources very easily. Discussions of genetics and genetic diseases in general happen on RareSpace, with the understanding that research on all these diseases could lead to cures for other genetic disorders as well. Articles on translational research and discussions of possible cures for diseases can be found on RareSpace. A major benefit is that medical professionals will answer questions posed by site users about treatment, best practices and how to best help these children and their families. Users will create profiles and have the opportunity to upload documents and links and connect with other users all within the RareSpace portal. In addition to connecting within RareSpace, users will have the ability to create disease specific groups that can all be linked with RareSpace. This robust platform provides numerous ways to share critical information and knowledge across the rare disease community, which can be done in a safe environment that includes representation from all of the key stakeholders involved in rare disease.

R.A.R.E. Project’s, Jonathan Jacoby to present at FDA Hearing on Rare Disease

On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases.

This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases

Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;

• Challenges of patient-driven R&D
• Challenges and successes with biomarker identification
• Experience with Orphan Drug Designations
• Individual investigator INDs and IND exemptions
• NIH clinical trials
• Barriers to recruitment and participation in CTs

Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.

The meeting will be webcasted and any interested persons are encouraged to join:

• Dates: June 29-30, 2010
• Time: 9:00 AM to 5:00 PM ET
• Webcast addresses (will be active at the time of webcast):
  June 29 – collaboration.fda.gov
  June 30 – collaboration.fda.gov

Prescription Drug User Fee Act (PDUFA)

The Prescription Drug User Fee Act (PDUFA) allows the FDA to collect fees from drug makers that produce specific human drug and biological products. These fees help to support the new drug approval process. In general, applications for products that have been designated as a drug for a rare disease are exempt from this fee. The statutory authority for PDUFA expires in September 2012. At that time, new legislation will be required for FDA to continue collecting user fees for the prescription drug program (the renewal of this Act is called PDUFA V). The FDA will hold the first of many meetings to gather input in advance of the next PDUFA, giving stakeholders an opportunity to weigh in on user fees the agency charges for drug review and how those fees are used by the agency. The July 1 meeting is open to consumer advocacy groups, health care professionals and scientific and academic experts, the FDA says in a notice in the Federal Register.

An example of PDUFA’s relevance for families impacted by a rare disease diagnosis is the drug Acthar, marketed by Questcor, which is used in treating patients with infantile spasms (“IS”), a rare form of refractory childhood epilepsy, and opsoclonus myoclonus syndrome, a rare autoimmune-related childhood neurological disorder. http://www.acthar.com/

OPSOCLONUS MYOCLONUS SYNDROME
Opsoclonus Myoclonus Syndrome is an extremely rare auto-immune disorder that affects as few as 80 children a year in the United States. It is caused by a neuroblastoma, a cancerous tumor, or a virus. It is thought that antibodies in the immune system designed to fight off the tumor (or virus) end up attacking the brain as well. Opsoclonus” is an unusual disorder of eye movement in which both eyes dart involuntarily (dancing eyes). “Myoclonus” simply means brief muscle jerks and “ataxia” indicates incoordination. The syndrome has been called by many other names, such as “Kinsbourne syndrome,” “dancing-eyes-dancing-feet” or opsoclonus-myoclonus syndrome (OMS). Most children are less than two years old when diagnosed. There is no cure for OMS. http://www.omsresearch.org/ (A Global Genes Project Organization)

Facebook Groups—
Opsoclonus Myoclonus Syndrome Awareness
OMS Families – Opsoclonus Myoclonus

INFANTILE SPASMS – REFRACTORY CHILDHOOD EPILEPSY
The onset of infantile spasms (sometimes characterized as West Syndrome) is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Prognosis is dependent upon the underlying disorder. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found. http://www.tsalliance.org/

Infantile Spasms and TSC: A Devastating Diagnosis

From Twitter—
@bsangel: it’s not for a prize or anything, it’s just about spreading infantile spasms awareness. (http://bit.ly/bq46Zz)
@ PLM_Epilepsy: our journey with infantile spasms: epilepsy walk http://bit.ly/9kSIja

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REMINDERS:

• June 23, 2010: Congressional Hearing on the Food and Drug Administration’s (FDA) Review Process for Rare & Neglected Diseases
• June 29-30, 2010: Public Hearing Regarding Food and Drug Administration’s Review and Regulation of Articles for the Treatment of Rare Diseases
• July 1, 2010: Prescription Drug User Fee Act (PDUFA) Reauthorization Stakeholder Meeting

Facebook
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The Children’s Rare Disease Network Launches Valuable Informational Blog

R.A.R.E. Blog is a Place for Families Affected by Rare Childhood Diseases to Learn and Share Resources.

Dana Point, Calif. (June 9, 2010) – For the approximate 22.5 million families with children affected by rare disease, a place to find and broadly share information with other affected families is vital. The Children’s Rare Disease Network (www.crdnetwork.org) , a non-profit advocacy group committed to connecting, educating and empowering the rare disease community, has launched the R.A.R.E. blog at www.crdnetwork.org/blog to provide that essential hub for parents, children, siblings, clinicians and other rare disease stakeholders.

“The R.A.R.E. Blog is an important part of improving the lives of these children and their families who are affected by rare disease,” said Nicole Boice, founder and president of the Children’s Rare Disease Network. “The blog provides an online forum where diverse people come together to share resources, expertise and help provide support so that each family never feels isolated, alone or uninformed.”

Bloggers provide valuable insight into a myriad of issues affecting children with rare diseases, posting on a wide range of topics. Parents who’ve lived through the day-to-day aspects of raising a child with special needs share stories, post notices, celebrate successes and ask for support when needed. Health care experts provide detailed analysis of rare disease policy as well as calls to action on pending legislation. Parents and health advocates discuss best practices and standards of care on the blog and provide a much-needed forum for families to become educated about the daily challenges of dealing with rare diseases.  Siblings of children with rare diseases have even blogged about the unique challenges they face living with a brother or sister with a rare disease, providing valuable insight for other families.

Geeta Nayyar, M.D., is Principal Medical Officer at Vangent Inc. where she provides her expertise in clinical medicine, health policy, medical communications and public health to her role of directing innovative health information management and technology solutions. She is also an Assistant Clinical Professor of Medicine in the Department of Rheumatology at the George Washington University, and is a physician contributor who has appeared on ABC News to raise awareness for World Rare Disease Day. Catherine Calhoun, J.D., who has a son with a rare condition, will also serve as a blog contributor. She voluntarily manages the R.A.R.E. blog and will bring the message of rare diseases to the Personal Democracy Forum conference in June 2010 and to the BlogHer conference in August 2010. In addition, Karen Owen, co-founder of Chronically Cool Families, a parent-to-parent support group for families dealing with chronic illness and disability after she lost her son, Gavin, at age three after a lifelong battle with Mitochondrial Disease, will provide blog content. Rounding out contributors is Howard Leibers, who has worked in health policy within various government and advocacy groups throughout his career.  As founder of the blog MarbleRoad, Leibers frequently writes about rare disease issues and community health with an emphasis on health policy.

Providing a dynamic online arena where people can come to learn about living with rare diseases and ultimately make life better for children and families, the R.A.R.E. blog welcomes guest contributors and subject matter experts who can write about topics important and relevant to this community.

About the Children’s Rare Disease Network

The Children’s Rare Disease Network (CDRN) is a non-profit advocacy group committed to connecting, educating and empowering the rare disease community. Providing a link between families going through the pain of a child with a rare disease, the CDRN is a division of and developed by The R.A.R.E. Project which exists to promote rare disease advocacy. For more information, visit www.crdnetwork.org.

Primary Care and HIT – What do they mean for you?

Federal health reform legislation passed earlier this year significantly expands the primary care system in America. Through expansions to Medicaid and other health insurance reforms more people will have access to care, and many of them will receive their care at community health centers. Through support from the Community Health Centers Fund, federally qualified community health centers will see upwards of 40 million patients annually nationwide by 2015. Comparably, Medicaid will be expected to provide coverage for 76 million people by 2019 (60 million now + additional 16 million) and Medicare will cover 39 million people (expected to reach 78 million by 2030, when the baby boom generation is fully enrolled). Before the passage of both the Patient Protection and Affordable Care Act and the Health Care and Education Reconciliation Act, we had the American Recovery and Reinvestment Act, which included an unprecedented investment of $47 billion in health information technology initiatives (HITECH Act of 2009). This investment built upon work which began in 2007 out of the U.S. Office of the National Coordinator for Health Information Technology (ONC), in developing the Nationwide Health Information Network (NHIN).

So… what does this stuff mean for the rare disease community? Well, I bring this information up for two reasons:

(1) Within the rare disease community there has been much focus on orphan drugs, medical devices, medical foods, etc for once a diagnosis has been established. But what about the coordination of care for some of these complex illnesses? Even earlier, what about the complexity of even establishing a proper diagnosis, or a diagnosis at all?

There is a lot of national focus, for good reason, on patient-centered medical homes initiatives and primary care. Joint Principles of the Patient Centered Medical Home according to the Patient Centered Primary Care Collaborative of AAFP, AAP, ACP, AOA and others include things such as a personal physician, whole-person orientation, integrated care, and quality and safety. According to Federally Qualified Community Health Centers, “Medical homes are patient-centered, regular, and continuous sources of care, coordinated by a team of medical professionals committed to quality improvement.” Community health centers have been doing this very well since their inception more than 45 years ago:

“For over 40 years, health centers have brought affordable health care services to communities overlooked and underserved by mainstream medicine. Health center patients – who total over [20] million in all – are predominately low income, uninsured or publicly insured, and members of racial or ethnic minorities. In fact, health centers currently serve one in every five low income uninsured individuals, one in nine Medicaid beneficiaries, and one in four low income minorities. Most health centers have broadened the scope of conventional health care services to include dental and mental health services, as well as case management, transportation, translation, and outreach. Because they go above and beyond the role of a medical home, health centers may be more appropriately described as “health care homes.”

Questions for Patients:

Where did your case originate? [Health center, hospital, private practice?]

Where was the diagnosis made?

Who coordinates your care now? [Is there a primary care provider leading a team of doctors or are you trying to navigate through a fragmented network of providers on your own?]

(2) I’ve seen a lot of dialogue about rare disease registries and undiagnosed disorders registries, and there are some pros and cons to that design. One of the challenges perhaps being the more than 6,000 different rare disorders that our family and friends have… There are some small networks forming here and there, such as the NIH Rare Diseases Clinical Research Network (network of 19 distinctive consortia) and RemedyMD, Inc’s March launch of RegistryOnDemand™ (10 rare disease registries in production). I want to know about the efforts going on to connect to patient records, if there are any?

With significant number of the population being seen in the health center system, who tracks information through the Uniform Data System and various Medicaid/Medicare reporting mechanisms, there could be something here for us to look at. As State Health Information Exhanges, Regional Extension Centers, and Regional Health Information Organizations establish themselves and grow and continue to implement electronic health records, we can see the blueprint for the infrastructure the rare disease community needs being lay out. These exchanges, for example, allow a private practice or health center doc access records of tests and treatment if say a patient has an emergency room visit, for proper care follow-up and coordination.

Questions for Providers and HIT Specialists:

Advantages/Disadvantages of a single registry, a network of registries, etc?

Would this information be useful for provider education on, say, differential diagnosis?

Would the data in these records be useful to doctors trying to coordinate the care of a person with a rare disease?

Do current definitions of meaningful use consider the rare diease (ie care coordination, engage patients & families, improve public health, etc)?

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Medical Foods Equity Act and PKU

Make Your Voice Heard

On April 30, 2010 a Notice of Public Hearing was published in the Federal Register. According to the notice, “The Food and Drug Administration (FDA) is announcing a public hearing regarding the Agency’s regulation of drugs, biological products, and devices (e.g., therapies and diagnostics) for the treatment, diagnosis, and/or management of rare diseases.” There will be two days available to provide testimony: June 29 and June 30, 2010.

When: Tuesday June 29 & Wednesday June 30, 2010 9am to 5pm ET
Where: 10903 New Hampshire Ave., Bldg 31, Rm 1503, Silver Spring, MD 20993
Oral Presentation: Written/Electronic Requests to Paras M Patel by May 31, 2010–
Phone: 301–796–8660, FAX: 301–847–8621
e-mail: OPDAR @fda.hhs.gov
Note: If you cannot attend the hearing, written/electronic comments will be accepted through August 31, 2010. Transcripts of the hearing will be available within 45 days.

I am interested in hearing what you might share at the Public Hearing. Please let me know via email if you would like me to testify on your behalf – I would like to gather some of your stories, comments, recommendations, etc. and provide a consolidated report to the FDA. Here’s some information directly from the Federal Register regarding the issue topics the FDA is particularly interested in receiving feedback on:

1. Orphan drug marketing applications are reviewed under the same review process and statutory standards regarding demonstration of safety, effectiveness, and product quality as drugs for patients with nonorphan diseases or conditions. FDA is sensitive to the unique needs of patients with rare diseases as it makes approval decisions regarding the overall risk benefit profile of therapies for the particular patient population for which they are being considered. Please comment on whether this practice has adequately addressed the needs of patients with rare diseases.

2. FDA designates a medical device as an HUD designed to treat or diagnose a rare disease—defined in this instance as a disease affecting or manifesting in fewer than 4,000 patients per year. Please comment on whether this practice has adequately addressed the needs of patients with rare diseases. Please also comment and provide your rationale on whether 4,000 patients constitutes an appropriate population size for an HUD determination. If improvements are suggested, please provide specific examples/suggestions for any recommended changes.

3. Current regulations for the approval of an HUD through the HDE pathway require that the application have a ‘‘description of the device and a discussion of the scientific rationale for the use of the device for the rare disease or condition’’ and ‘‘an explanation of why the probable benefit to health from the use of the device outweighs the risk of injury or illness from its use, taking into account the probable risks and benefits of currently available devices or alternative forms of treatment’’ (21 CFR 814.102 and 814.104). Please comment if you believe that these standards remain appropriate for the approval of devices for rare diseases under the HDE mechanism; please also comment whether a more precise definition of probable benefit is needed.

4. Have current processes for rare disease stakeholders to communicate with FDA regarding rare disease article development been useful? How could these processes be improved? Please provide specific examples/suggestions for any recommended changes.

Comments and feedback would be useful by COB Wednesday, May 19, 2010. However, because of the quick turnaround time I welcome your comments by COB Thursday, May 27, 2010.

Thanks in advance for all of your support and effort! ~ Howard

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Tomorrow night, Tuesday, May 18, 2010, the National Organization for Rare Disorders (NORD) will be hosting its annual gala – the Partners in Progress 2010 Gala – in Washington DC. The event will be emceed by Home Improvement and The West Wing actress Patricia Richardson, who’s father died of progressive supranuclear palsy (PSP), a little known but disabling brain disease. At the event NORD will be honoring Dr. Sami Said, a State University of New York (SUNY) professor, with the Partners in Progress Award. They will also be honoring Dr. Roscoe Brady of the National Institutes of Health (NIH), who developed the first effective treatment for Gaucher disease, with the Lifetime Achievement Award. Registration

Quality of Life and the CLASS Act

A special thanks to all of you who responded to my first post on the CRDN Advocacy/Policy blog. I heard some incredibly heartbreaking stories this week, including one about a boy who passed away on his 6th birthday from complications of three different genetic disorders. That little boy had a compromised immune system and scarred lungs, and also respiratory syncytial virus (RSV). A vaccine was available which may have helped… However, the vaccine has not been tested on older children or children with weakened immune systems, and so it is only offered to children under the age of 3 years old. This little boy’s life could have been saved. There’s still so much work to be done.

There has been quite a bit of discussion about strides being made in clinical research and orphan drugs. But we all know there is also a whole other component for families who have been impacted by a rare disease diagnosis: quality of life.

Buried in the Federal health reform was the Community Living Assistance Services and Supports (CLASS) Act. Little information has been shared thus far on implementation of the CLASS Act, though the Kaiser Family Foundation has started to offer a few issue briefs on it in the last couple of weeks. Those of you who know me, know I have been a Ted Kennedy Democrat – in support of his work from community health centers to AmeriCorps and National Service programs. The Class Act is yet another legacy of Senator Kennedy, which essentially sets up a long-term care insurance program that people can pay for through their employers (there is an opportunity to “opt-out”). This program helps to supplement Medicaid, Social Security and other benefit programs, but does not replace them. Adults who have been paying premiums for a minimum of 5 years will become eligible to receive a cash benefit of at least $50 per day to purchase non-medical services and supports. This benefit may be used to pay for things such as home health care, adult day care, respite care, transportation services, and home modifications for improved mobility. Moreover, the benefit can be used to offset the costs of assisted living facilities or nursing homes. The program starts January 1, 2011.

My question for you is what impact do you think the CLASS Act will have on you and your family? One of my concerns, and this has not been clarified yet, is that this benefit may not be used for dependents? What about the potential impact on those of you who have rare disorders but are still able to work? Will you opt-in to this program? What about the period between now and the 5 years before you are eligible to receive benefits – how have you been getting by?

Different elements of the CLASS act are interesting for a variety of reasons, such as the ability to pay for home modifications. Thomas Maeder shared a blog post as “Man of the Month” in Disruptive Women in Health Care, an author, educator and consultant who has written on rare disease before, about medical devices (see excerpt below). While the CLASS Act can only be used for “non-medical services and supports”, does it open the door to provide incentives for the medical device community to partner with other groups to help improve quality of life? Maybe, maybe not. I see a continuum here, from direct medical care and pharma to medical devices to home modifications – and bridging things like this together to meet all the needs an individual might have is an important concept.

One unfortunate omission in the Orphan Drug Act was the field of medical devices, which were not given the same incentives as pharmaceuticals. FDA’s device regulations do provide for what are called “custom devices” – variants of a commercially marketed device that are prescribed for an individual patient, like prosthetics or dental implants. In the early 1980s, Cook Medical, an Indiana device company that manufactured a bladder stent for ureteral obstructions, custom produced a diminutive version for use in fetuses. Cook sold this device at cost, as it was an effective way to treat an otherwise fatal condition affecting 200 fetuses each year. When the number reached 680, FDA decided that the stents were no longer custom devices, but manufactured products, whether sold at a profit or not. Cook successfully lobbied for new legislation, and the Safe Medical Devices Act of 1990 included provisions for a Humanitarian Device Exemption. Alas, Cook won the battle but lost the war, because the exemption applies only for conditions affecting fewer than 4,000 Americans per year, explicitly bars manufacturers from making any profit, and provides incentives too paltry to encourage and facilitate the sort of robust R&D projects seen in the orphan drug world.

As we discuss health care and health care reform, how often is something like the carpentry for a rail in the shower of an elderly or person with disability not considered “health care” (or the corporatized “healthcare”)? Does the CLASS Act help to move us closer to the understanding that quality of life, and meeting the needs of our patients through “patient centered medical homes” concepts, is more than just exercise, nutrition and pharmaceuticals? One of the first things I learned in the community health center world is the story of the patient with diabetes and how misdirected sometimes our focus on clinical components can be:

There was a woman whose diabetes was not in control; her nutrition was poor, she was not adhering to treatment protocol for her medications, etc. None of her medical providers had spent enough time with her. Finally a community health worker sat down with her and asked her about her life within a broader context. What was her story? Finally they discovered that what the patient really needed was assistance with getting her drivers license… How does this relate to her health care? Well, she did not have access to farmers markets or quality grocery stores for fresh produce, with no car and limited access to public transportation. She therefore relied on fast food nearby or loading up on processed frozen food which could hold the family over for an extended period of time. She had trouble with transportation to a pharmacy to access her medications. Getting this woman and her family healthy started with getting them access to transportation and empowering them with something as simple as a drivers license.

What do you need to be an effective caregiver? What do you need to be in more control over your own life? What might help you attain a higher quality of life? What can I do to help you as an advocate? I’m looking for programs and legislation that will support you and your family; have you been working with Congressmen on a bill in your State that we should be paying more attention to on the National level?

Desperate Measures

This is one of the posts from my blog, “Coming Unglued”, about life with Ehlers-Danlos Syndrome which is a rare connective tissue disorder in which the body’s ability to produce enough collagen is severely limited due to genetic mutations.  In 1998, my first husband died from the Vascular form of EDS; two weeks later my son was diagnosed with the same condition.  In this form, people are prone to aneurysms, arterial ruptures/dissections, organ ruptures, and other life-threatening complications.  Like most rare diseases, there is no cure – and there is no treatment.  And for us, there is no way of knowing or predicting what the disease will do or when it will do it.  I started blogging because I’ve found that the key to surviving this journey is in connecting with as many other people going through similar situations as possible.  Raising a child with a rare disease is hard enough.  Doing it alone . . . well, that’s just uncalled for. 

It’s strange what being the parent of a child with a rare, life-threatening or debilitating genetic disorder can do to a person.  There’s even a movie about it – “Extraordinary Measures”, with Harrison Ford and that other guy from the “George of the Jungle” movie my kids still like to watch.  It’s about a dad who quits his job to partner with a scientist and push the science to develop a life-saving treatment for the disease.  Oh yeah – it’s based on a true story. 

Its’ also the kind of story that people like me look at and think “Wow! That’s just like what we go through with EDS.”  Haven’t actually seen it yet, but that is actually what I think.  That is actually what I hope for someday. 

Long before the movie was made, families like this have been doing extraordinary things in their quests to find treatments and cures for their children; whether to save their lives or at least improve the quality of what life they have left.  And long after the movie is forgotten, the newly inducted members of this ever-growing group of parents will continue to lie awake at night wondering which medical journal, which doctor, which article has the missing key to their child’s disease.  They will feel driven to do it; they will feel compelled to do it, and they will feel heart breaking guilt when they do not succeed. 

One thing you find yourself doing, especially now that the internet has exploded with untold treasures of medical research just waiting to be mined, is sifting through long, wordy and usually incomprehensible research articles that may contain even the tiniest connection to your child’s disease.  Every once in a while, if you’re very lucky, you may even see a story of someone with the disease on T.V., or a doctor testing a new treatment which holds promising possibilities. 

That’s when your mind starts to whirl, flying through every scrap of information you’ve ever memorized, looking for the elusive missing pieces.  That’s when you get a little more desperate than usual (you’re always desperate), which is what happened to me a few weeks ago. 

Last December, I saw a story on 60 Minutes about breakthroughs in a field called “Regenerative Medicine” in which doctors use different methods to trick the body into growing or repairing missing or damaged tissue.  My heart pounded in my throat as I watched – was I really hearing and seeing what I thought I was?  Could this be true?  I imagined all sorts of implications for my child and the millions like him around the world.  I knew my very basic knowledge of cell formation was too limited to know if this could be for us or not.  So I did what any other parent of a child with a rare genetic disease would do: I hopped on the internet. 

For about three days I scoured websites, located all major research institutions in the U.S. exploring this field, AND – talk about hitting the jackpot – I found the emails of several of the doctors featured in the story!!  (It’s not that hard, really).  So, again, I did what any self-respecting-parent-of-a-child-with-a-rare-genetic-disease would do – I sent out about ten emails to prominent doctors at prestigious institutions – I was making cold-calls (or whatever it’s called for emails). 

I came to my senses a couple of weeks later when I had received no replies and remembered that there are M-I-L-L-I-O-N-S of families going though the same thing as me, and surely no less than two-thirds had probably done equally as desperate things.  More than likely, the servers at those hospitals had crashed from the influx of emails from parents like me.  Oh well, at least I’d taken a shot at it, right? 

But then . . . out of nowhere – I got an email response from a vascular surgeon who works with the Institute for Regenerative Medicine in Pittsburgh.  HOLY COW!  I skimmed it faster than my mind could read – looking for key words, like “possibility” and “hope” or “promising potential“, but found none. 

The email essentially said that as of right now there are no applications for the treatment in Ehlers Danlos patients, and they simply didn’t know about the future.  And then he told me how to take care of a child with vascular Ehlers-Danlos syndrome; at least he was covering his bases.  So – I moved on and pretty much forgot all about the other emails. 

But today, when I opened my inbox, there was an email I thought was from another EDS patient I’d been told was going to contact me.  I opened it quickly, started skimming, and soon realized that – OH! MY! GOD! It was a reply to the email I’d sent to THE doctor on whom the majority of the 60 Minutes story was focused. 

Heart racing, adrenaline pumping, I backed up and started re-reading; actually reading this time.  O.k. - it was from his associate – he was helping respond to emails – they were very backed up after the show – just like I thought – blah, blah, blah – and then, the meat of it.  Which I’ve copied for you here:

“Re your specific inquiry…

1.      None of Dr. Badylak’s research has specifically addressed your area of interest

2.      While ECM shows substantial promise to repair damaged tissue, I do not envision that it would be effective in reversing the root cause of your son’s affliction 

3.       ECM and tissue engineering in general, offer promise to treat tissue defects, but the use of such procedures would require surgical interventions.”

 

 The rest was “thank you for your interest”….. “blah, blah, blah”…..“etcetera, etcetera”…balloon popping….bubble bursting…..eyes getting teary….heart breaking all over again. 

Where the hell is my coffee?

I gotta’ go to work now.

Damn.

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