The Newsletter of Fabry Support & Information Group • Issue 15 December 2004

Greetings and Hello to All

We find ourselves at the end of another year, and looking forward to the one ahead. It has definitely been a busy year for FSIG. So busy in fact, I feel compelled to begin with an apology for this newsletter being behind schedule. Steps are under way to address this and we appreciate your understanding and continued support. We know you value the FSIG newsletter because so many of you have told us so. As part of our goals for the organization’s growth, we hope to both increase the number of publications and continue improving the quality of future newsletters. We also request your help by keeping us informed of your current mailing address whenever it might change.

As with last year (2003), a great deal of work has been undertaken to gain a better understanding of Fabry disease. In this issue we are happy to present you with published results from two past surveys. These assessments remain an important research tool. We cannot thank you enough for your valuable contributions by participating in these projects. We also want to extend our gratitude for your continued interest in and support of new clinical trials. Your participation is crucial to this ongoing work.

Genzyme’s Phase 4 clinical trial with Fabrazyme® concluded in January of 2004, and preliminary data has just recently become available. More time is needed before final published results will be publicized, but findings emphasize the importance of starting enzyme replacement therapy (ERT) as early as possible. We want to recognize all those patients who participated in this trial. Their willingness to remain in a double-blind placebo-controlled trial after FDA approval had been received makes them true Fabry heroes!

We have also received preliminary — yet positive — information on developments for additional possible future treatment options. So long we have waited, and now with a treatment finally available, even more possibilities are being developed. Of these, a product produced by Amicus Therapeutics has already completed a Phase 1 clinical trial. This product could help a certain percentage of patients by activating non-functioning, native Alpha-Gal enzyme. We have learned that promising results are also being achieved in the area of gene therapy. The future may even provide a product to help make ERT more effective. FSIG will continue to monitor these and other important developments.

We would like to express a special thank-you to all. It is our pleasure to report the FSIG fund-raising drive earlier this year was an outstanding success. We reached our goal for the first half of 2004. This is completely due to your support. We hope you will be able to help us reach future goals for public support, which are so important as a nonprofit organization.

Another special thanks is due for all the incredibly encouraging words we have heard from so many of you over this past year. Through messages, e-mails, letters, cards and from so many of you directly, your words of support have meant the world to all of us here at FSIG. It has been a wonderful pleasure being able to meet and spend time talking with many of you from across the country and even the world. Your support is the fuel that drives us. We all have come a long way together and the fruits of labor from the entire Fabry community are coming to bear.

All of us from FSIG wish you the best new year possible. With more and more receiving ERT all the time, our collective future is looking brighter. There will still be trials and tribulations to deal with, the road ahead is not devoid of potholes, but together, we know it will be a better journey.

Jack Johnson

Health Canada Approves Enzyme Replacement Therapy!?

Early in 2004 Fabry patients in Canada received long awaited approval of both Fabrazyme® and Replagal® produced by Genzyme and Transkaryotic Therapies respectively. Treatment for Fabry disease is still not available though. Reimbursement was denied by the Common Drug Review, another regulatory body. The denial was based on the drugs cost effectiveness. The battle for access to therapy is still ongoing in Canada. A battle that must be won!

Words From The Heart

A Friend’s Perspective:
“Fabry, what it means to me”

One of my best friends, who is also my brother-in-law, has Fabry. Prior to meeting him, I had never heard of the disease. Jack didn’t talk about it much — just called it “The Dragon.” The symptoms seemed strange: no sweating, pain in the extremities, and he put apricot nectar on his cereal in the morning because he didn’t drink milk.

We met in college. My sister and he were dating at the time. He lived in the guys’ dorm and I lived in the women’s dorm, so of course I was happy to have a reason to go visit him often. I had several girl friends who where also glad to have access to third-floor west wing of Freddie Hall!! There were five Steves, a Brian, a Jim and of course, Jack. We all called him “Dad” because he was the only one with a car and he took care of all of us.

He is so strong! He used to hang from the door jam with just his fingertips and do pull-ups. It was hard to understand how this otherwise healthy, strong, good-looking man could be so devastated at what seemed like the snap of your fingers. It was only much later that I realized that what I thought was a sudden attack actually came on slowly. Jack was just so intent on being in control of the sickness instead of the other way around that he pretended to feel good even when he didn’t.

I remember one time, after working a long shift waiting tables, I was sitting on the couch and he started rubbing my feet. He has extremely strong hands, so it stands to reason that he gives great massages. Well, I tried to rub his feet. He told me that it hurts, and I just thought that if I was really careful that I could help his feet, too. I didn’t know that it was like torture for him.

I think that is the hardest part for his friends. We all want to be there for him like he has always been there for us, but we just don’t know how to do that. No one, who is outside of the circle, has enough information about Fabry. That is why I think it is great to get this newsletter out. After I get my copy and read it from cover to cover, I put it in the break room in my office. I have caught several people reading it and have been asked questions about it.

Information is the key to dealing with the disease and supporting our friends. Thank you Jack and Debbie and all those associated with FSIG for providing this source.


A joking comment to my sister-in-law about writing a newsletter article for me, prompted her to put these memories into words. It reminded me that others may see us differently then we see ourselves. These other points of view can be a very special way to express thoughts or feelings about those we hold dear.

The simple sharing of a story can convey much more then what the words actually state. It was decide to share this with you, and to invite you to submit your stories. If you would like to share a special moment, thought or what ever about someone dealing with Fabry, please feel free to do so. These stories could be about a person with Fabry, or a caregiver such as a parent, child, friend or significant other. Please make submission to “Attention Newsletter”. Our address and e-mail are listed to the left of this article.

Jack Johnson

FSIG Update

Weekend summit examines FSIG’s growth and future potential

Organization growth of the Fabry Support & Information Group was the focus of an FSIG Board Summit held August 20-22 in Kansas City, MO. This topic has been a matter of importance all year, as FSIG endeavors to be prepared to meet future challenges.

FSIG has been very busy since its formation. We have worked hard to increase awareness of Fabry disease and the important issues with which we all live on a daily basis. The concerns you have shared with us have been a crucial part of our advocacy efforts.
Rhonda Buyers, executive director of the National Gaucher Foundation (NGF), spoke at the summit about the general operation of a nonprofit patient organization focusing on a rare disease. Rhonda shared her experience with NGF’s organizational development and growth (as well as challenges), and the opportunities she encountered. She also addressed a number of specific services and programs offered by NGF.

Nancye Buelow, National Manager, Patient Advocacy & Program Development with Coram Health Care and member of the Board of Directors for the Genetic Alliance, added her voice of experience on many issues throughout the two days of discussions. Her unique insight and awareness of crucial issues for patient-oriented nonprofit organizations were essential components of the dialogue.

Another important contributor was Connie Kreps, formerly of the National Institutes of Health and currently with Genzyme Therapeutics, Connie’s many years of working with Fabry patients from around the country, plus her caring insight and awareness of patient care and patients’-rights issues, complemented the purposes of this summit.

Genzyme was additionally represented by John King and Joyce Moynihan, who spoke about industry programs and case management services of importance to the Fabry community.

Mike Adams and Donna Gruelle from Cambridge Publishing Group (CPG) provided a demonstration of the Webcast technology and additional services available to FSIG, including intranet access for FSIG Board members and committee volunteers. Several patient meetings have been available via Webcast, and copies of these Webcasts are being created in DVD format. CPG is exploring opportunities to continue collaboration with FSIG and expanding online services. CPG is also working on Web site redesign and implementation ideas.

FSIG members Toby Director, Chris Huff, Jacqui Howells and Sabina Kineen also attended, representing a cross-section of the U.S. Fabry community. They contributed individual perspectives that proved immeasurably valuable to the proceedings. FSIG’s efforts from the very beginning have been targeted at providing benefits to the Fabry community at large. The voices of this additional connection, without a doubt, acted to guide, strengthen and validate all our resolve in the direction FSIG’s growth has taken and should continue to take.

Contributing from FSIG were the members of the Board of Directors: Amy Frett, Jason Frett, Debra Johnson, Kathy Johnson and Ed Lentz, along with the executive director Jack Johnson. This was not just a working session for the board members, but also a time to listen, learn and collaborate with all involved stakeholders.

Last, but certainly not least, was Gina Cella of Cella Communications. Gina acted as meeting facilitator and also as a contributor. She has many years of experience in the nonprofit sector, having participated in a number of different roles, including organization founder.

Gina Cella, Ed Lentz & Jack Johnson

Among the many topics discussed on the two-day agenda were:

NewsletterThe FSIG newsletter was recognized as an important publication providing new and important information to the widest audience. A number of improvements were suggested, such as new format, varied content and increased publication schedule. FSIG is currently working to implement these proposals.

Web Site The FSIG Web site was not a matter of lengthy discussion, but was acknowledged as an extremely valuable aspect of the services offered. It was recognized as a primary source of contact and information for patients across the nation, and to a certain degree, around the globe. Improvements and new design considerations were covered and are in consideration for the future.

Patient Meetings The program of patient meetings that have been occurring across the country was discussed, with emphasis on the value they contribute to knowledge and understand about Fabry disease. This is true for all participants, not just those patients able to attend.

Webcasts and Online Capabilities A number of patient meetings this spring and summer have been available via Webcast. These meetings were also recorded, and working out the final details of their completion is being addressed. The use of these new capabilities, particularly for those in more remote areas or not well enough to attend in person, was a point of excitement for attendees. All could readily see the possibilities this might afford.

Additional Programs A number of additional and expanded programs were discussed, including:

Regional Networking Many Fabry patients and families feel isolated and alone in their journey. It was recommended that FSIG help connect patients and family members via a local networking structure. This is a natural outgrowth of interest that has been expressed in various areas across the nation and is still in its infancy. It is a service that could be used to facilitate informal meetings, discussions and interactions held at a local or regional level.

Mentor Program – Currently, FSIG informally connects patients/families with others, to promote support networking. It was suggested that this be established as a formal program to more fully take advantage of this as a valuable service.

Library – Numerous publications are dedicated to Fabry and related LSDs. It was suggested that FSIG create a library or listing of key publications and studies.

Awareness Campaign – Much discussion focused on the need to create greater public awareness about Fabry and the need for improved understanding of female involvement and early diagnosis.

This list highlights many of the covered topics, but is by no means inclusive. Also on the agenda were the possibility of membership dues and structure. Attendees agreed they wanted to keep FSIG membership free as long as possible, relying on donations to cover services. Discussion continued on expanding of the Board of Directors, better utilizing the Medical Advisory Board, establishing the responsibilities of the executive director, and reflecting on FSIG’s name and graphic identity. Additional programs and publications, as well as greater volunteer involvement and prospects for a national FSIG meeting, were also on the slate.

Along with the success of this group effort, FSIG was also extremely pleased with the acknowledgement of how far the organization has come from its humble beginnings. Over the years, FSIG has been very busy, with much happening both behind the scenes and publicly. Through it all, FSIG has concentrated on staying true to its original mission of serving the Fabry community with steadfastness to a high level of integrity.

Newborn Screening: a future possibility

Fabry Diagnosis Outlook

As many are well aware, receiving a diagnosis of Fabry disease can often come at the end of a long road, and after visiting a dizzying array of specialists. A report from the Office of Rare Diseases (headed by NIH), and the Office of Orphan Products Development (headed by the FDA) holds new hope. Highlighted in this report is an increase of $1.8 million for the Orphan Products Research Grants program for fiscal year 2005. This increase brings the total increase to $15 million. A recommendation for educational workshops and meetings is included, which can only increase awareness and knowledge of rare disorders.

Also highlighted is support for a program of accelerated development and approval of orphan drugs, utilizing a coordinated, government-wide effort. Included was the desire to increase support for the training of clinical research investigators in the area of rare diseases. Concern was expressed over the availability of diagnostic tests for rare conditions.

New tests to identify Fabry and other lysosomal storage diseases are on the horizon. Newborn screening for these devastating conditions might become a reality in the not-too-distant future. This could allow for quick and accurate identification and treatment at a more optimal time then is currently practicable. This is all good news for those dealing with the realities of orphan conditions.

Letting your senator and congressional representative know you support these recommendations will help to ensure that these changes and more become a reality.

Fabry Surveys

The Patients’ Perspective on Pain of Fabry Disease
A Gibas, R Klatt, J Johnson, J Clarke, J Katz

Fabry Disease (FD) is a rare multi-systemic lysosomal storage disorder characterized by chronic neuropathic pain. FD patients experience acroparesthesia, or an intense painful burning sensation in the extremities that spreads proximally. Pain crises are periodic in nature, vary in duration, and are often debilitating. Abdominal and joint pain may also be experienced. Treatment is typically symptomatic.

Objective: To determine from the FD patients’ perspective the impact of disease-specific pain on quality of life (QoL), and improvement of physician awareness of Fabry-specific pain.

Methods: A brief survey was accessible online (, and was also mailed to 551 members of a FD support group. Patients responded to open-ended items concerning (1) pain interference and QoL and (2) how physicians can better understand Fabry-related pain and discomfort. Eighty-six completed surveys were returned.

Results: Disease-specific pain impacts the daily functioning of FD patients. Restrictions in normal social, leisure, vocational, and physical activities were self-reported. Extremes in environmental temperature contributed to painful episodes of FD, and further limited activities involving physical exertion. Fatigue and emotional disturbances co-occurred with Fabry-related pain. While some patients reported they were understood by their physicians, others felt their physicians did not believe them and/or thought they exaggerated the pain. Suggestions for better physician understanding of FD pain included improving education/medical training, having physicians experience Fabry-related pain (e.g., “walk a mile in my shoes”), and listening to and getting to know Fabry patients.

Conclusions: The results draw attention to the extent and impact of pain on the QoL of FD patients. Pain management and improved education of physicians appear to be important considerations. The reduction of Fabry-related pain is critical to improving the QoL of many FD patients. The low response rate may indicate the results are not representative of the FD population.

JK is supported by a Canada Research Chair in Health Psychology

Reprinted from JOURNAL OF PAIN, 5 (3 suppl 1), Gibas et al:, “The patient’s perspective on pain of Fabry Disease”, p. 40, Copyright 2004, with permission from American Pain Society.

Last year FSIG assisted researchers from York University and University Health Network in Toronto, Canada, with the Fabry Pain Survey. This abstract highlights the outcome of that survey and illustrates how important information can be learned and shared through this type of research mechanism.

Here is a quick run-through on some of what was learned in this survey:
This study was sponsored by Transkaryotic Therapies. Investigators were Andrea Gibas, Regan Klatt, Jack Johnson, Dr. Joe T. R. Clarke, and Dr. Joel Katz. Regan Klatt in Toronto did the bulk of the work, in getting the project underway. Jack assisted with input on Fabry pain, survey questions and survey distribution. Thanks are also due all those who participated by completing and returning the survey form. Without their participation, these important findings would not be possible.

Fabry Disease Survey Results Now Available
By Genzyme’s Fabrazyme Team

In August of 2003, many FSIG members participated in a Fabry disease survey sponsored by Genzyme Corporation. The survey was designed to help Genzyme better understand the experience and informational needs of people with Fabry disease. The survey was also designed to help Genzyme better understand what leads people with Fabry disease to first see their doctors, which types of doctors they see, which type of doctor often ultimately makes the diagnosis of Fabry disease, and how long the process usually takes.

Visit Genzyme’s Fabry Community website at for more survey results.

The high number of people who responded to the survey shows that, overall, people have an interest in sharing their Fabry experience.

Here are some of the highlights from the survey:

The questionnaire was mailed to a total of 848 people, including 500 FSIG members in the United States. A total of 256 people responded to the survey.

Signs and Symptoms
Most people who responded said that the first signs and symptoms of Fabry disease they noticed were pain in the hands and feet, sensitivity to heat and cold, and inability to sweat.

Signs and symptoms that were first noticed by survey participants: When asked what symptoms they experience currently, people reported still experiencing these symptoms; however, more people reported experiencing heart, kidney, and cerebrovascular problems. This information supports the fact that Fabry disease is progressive.

Signs and symptoms currently experienced: Half the people were over age 14 and half were under age 14 when they first saw a doctor about those symptoms. However, half the people were over age 30 and half were under when they were finally diagnosed with Fabry disease.

Increased awareness and recognition of Fabry disease may help bridge the gap between these years, so that people are diagnosed sooner.

Most people report that kidney problems were the symptom that got their physicians to suspect Fabry disease.

Symptoms that led physicians to suspect Fabry disease in survey participants: In thinking about the long-term health consequences of Fabry disease, many people are concerned about heart, kidney and cerebrovascular problems.

Signs and symptoms that concern survey participants the most:

Enzyme Replacement Therapy
Approximately 40% of people who responded to the survey are on enzyme replacement therapy and had been so for 1 to 3 months at the time of the survey.

Family Testing
Nearly everyone who responded (99%) say they have talked with a medical professional, such as a genetic counselor, about how Fabry disease is inherited. Most people who responded (90%) have talked with a medical professional about testing their family members for Fabry disease.
· 88% have family members who have been tested by a physician for Fabry disease.
· From 1 to 30 people per family have been tested for Fabry disease. On average, 5 people per family have been tested.

Of those who have been tested, from 1 to 26 people per family have been shown to have Fabry disease. On average, 4 people per family have the disease.

Increased awareness and recognition of Fabry disease may help bridge the gap between these years, so that people are diagnosed sooner.

In addition, the survey results revealed that many families do not realize that genetic counseling can help identify other family members (such as cousins) who may have Fabry disease. Genzyme can provide information on genetic counselors in your area. Call toll-free
800-745-4447 or email

Sources of Information
Many people said that when they were first diagnosed they learned about Fabry disease from websites such as FSIG, Fabry Community, NIH, NORD, NINDS, in addition to their doctor.

Most people said they would like more information for children, and for physicians and healthcare professionals. They also said that additional information on health insurance issues would be helpful.

Fabry Registry
The survey also uncovered that many people do not understand what the Fabry Registry is and how their participation in the Fabry Registry can help improve the overall understanding of Fabry disease.

For more information on the Genzyme-sponsored Fabry Registry, ask your doctor or call 800-745-4447, ext. 15500 or visit

Thank you to those who participated
Thanks to all of you who participated in this survey. These results, as well as the results from additional surveys that will be conducted, will help Genzyme improve the services and educational resources it provides to people living with Fabry disease, their families, and their healthcare providers.

To learn more about the survey results
If you would like more information about this survey, or would like to see more survey results, go to

Survey results provided by: Acom Healthcare, Hingham, MA

NORD Phone Program

Genetic-disease questions now answered by phone, e-mail

The National Organization for Rare Disorders staff now includes a registered nurse and certified genetic counselor who will respond to questions from patients and members of their families. These professionals work in NORD headquarters to provide answers related to specific genetic diseases and their patterns of inheritance.

E-mail: Patricia Kane-Carlsen, R.N.,
Marsha Lanes, M.S.,

Phone: (203) 744-0100 or (800) 999-NORD

International Patient Meetings

International meetings on Fabry held in Warsaw, Rome
5th European Round Table on Fabry Disease

The 5th European Round Table on Fabry Disease was held in conjunction with the International Meeting for Representatives of Fabry Patient Associations on October 22 and 23, 2004, in Warsaw, Poland. More than 300 physicians attended the round table. Among the many medical presentations was the European unveiling of preliminary results from Genzyme’s Phase 4 clinical trial of Fabrazyme®. In addition, Jack Johnson of FSIG spoke on the important role played by patient associations.

During the Fabry Patient Associations meeting, Jack also gave a presentation on FSIG, its beginnings and growth over the years. FSIG’s core services were also addressed, specifically how they benefit the Fabry community.
These meetings provided an excellent opportunity to hear and learn from Fabry support organization leaders throughout Europe. While Poland is a member of the European Union (EU), reimbursement for enzyme replacement therapy (ERT) for Fabry disease still remains to be approved. Even though ERT has been approved by the EU regulatory authorities, a number of member countries have not yet provided authorization to cover the expense of this treatment. It is hoped this situation will change in the near future.

The 5th European Round Table on Fabry Disease and the International Meeting for Representatives of Fabry Patient Associations was sponsored by Genzyme Corporation.

3rd International Fabry Patient Meeting

The timeless city of Rome, Italy, was the location for the 3rd International Fabry Patient Meeting, held Nov. 11-14, 2004. As with the past two, this years meeting had a terrific line-up of both physician and patient presenters. Topics covered included everything from dizziness and hearing involvement to the effects Fabry can have on the endocrine system. The impact of Fabry on quality of life was covered via the Fabry Outcomes Survey (FOS), showing many patients reporting improvement in multiple aspects of their daily lives.

A topic of particular interest was symptoms experienced by females and how females are responding to ERT. Ditmar Basalla of the German Fabry patient association (Morbus Fabry Selbsthilfegruppe MFSH) expressed concerns for female Fabry patients in his country. He reported that at present, females are generally being denied authorization for ERT by insurers, unlike their male counterparts.

The psychosocial aspects of Fabry were discussed from both personal and professional viewpoints. Symptoms and treatment for children were also covered. As with other reported aspects of treatment and response, the information presented was very encouraging.

To conclude the proceedings, an interesting report was given by Dr. Gino Di Nella, an Italian patient and head of the Italian Fabry patient association. He spoke of his personal journey into his family’s medical history. He researched his family tree and the progression of Fabry disease through it, up to his own generation. This historical account seemed fitting in such a place as Rome.

Before heading home, the 300 plus attendees took a bus tour of the ancient city and joined together for a final evening meal. These international patient meetings provide such a wonderful opportunity for Fabry patients and family members from many nations, cultures and languages to come together, meet, learn and renew growing friendships. After all we are all bound by a common thread into the Fabry family.

The 3rd International Fabry Patient Meeting was sponsored by TKT Europe-5S.

National Meetings

This spring the series of Genzyme sponsored patient meetings was reinitiated. In 2004 the majority of these meetings were concentrated in the western half of the country. They continue to provide a valuable venue to receive constantly evolving information and access to experts in the field of Fabry disease management and treatment.

Many patients and family members were able to attend, hearing presentations by top experts on Fabry disease. At some meetings fellow patients contributed by sharing experiences many can relate to, or maybe hope to as in the case of receiving home therapy. These opportunities to learn and meet others so many of us share an uncommon connection with, have been very well received and beneficial.

Jack and Debra Johnson of FSIG have enjoyed the opportunity of meeting and getting to know so many of you from across the United States. These wonderful opportunities have allowed FSIG to present information on the importance of how Fabry disease can impact a family line, and what we all can do to help others. Through better understanding and talking about this rare condition, we all can do our part to help in the correct diagnosis of others suffering from this vary rare condition.

FSIG also initiated a pilot project of internet webcasting and video recording patient meetings. This project was undertaken at a number of meetings with ever-increasing success. Final details for DVDs of these recorded meetings are in process and FSIG is excited about the potential of applying this new technology to future FSIG sponsored activities.

With an eye toward employing technology that will benefit those FSIG endeavors to serve, equipment for hearing assistance and language translation is also now available. This newly acquired equipment was very successfully utilized at several recent patient meetings and is made available as yet another service to benefit the patient community. FSIG is constantly looking to provide improved and new services in line with organizational goals and growth initiatives.

Genzyme Treatment Support

Three faces that could make a difference

If you have ever called Genzyme Treatment Support, then there is a good chance you have spoken with Regina Cameron, Stephanie Ginty, or Joyce Sundstrom.

Regina, Stephanie, and Joyce are case managers at Genzyme who are dedicated to helping provide people with Fabry disease the information and tools necessary to gain access to the care they need.
How do they do it? Since everyone’s situation is unique, they say it happens one person at a time, and one telephone call at a time. It is necessary for Regina, Stephanie, and Joyce to have a good understanding of Fabry disease and a specialized understanding of health insurance.

Many case managers at Genzyme Treatment Support (GTS) are nurses and social workers who have worked for many years in the healthcare system, often including the health insurance industry. With this experience, they are able to help address the unique needs of people with Fabry disease and their families.

Regina, Stephanie, and Joyce all agree that their main goal is to support those who contact GTS.

“Many people I speak with recognize that Fabry disease is progressive, and they want to know what they can do about it,” says Stephanie. “My goal is to do what I can to help them.”

GTS Case Managers do this in a number of ways. Sometimes it’s with helping understand the health insurance policy and how treatment is covered under the policy. Other times it’s with helping coordinate the exchange of information between the doctor’s office and the insurance company. And with their in-depth knowledge of local and regional insurance alternatives, they sometimes even help find options when it seems there aren’t any. They each strive to help in any way possible.

“I like knowing that I have helped a patient obtain the health insurance coverage they need to receive their prescribed treatment,” says Regina.

Joyce agrees and adds, “I like knowing I’ve made a difference to the person I’ve spoken with.” She adds, “When we’re successful, we’ve touched someone’s life in a very positive way.”

Since Fabry disease affects a relatively small number of people, the case managers at GTS enjoy talking with the same families regularly and hearing how they are doing. Regina, Stephanie, and Joyce like their work and like the people they interact with—you.

So if you have any questions about health insurance issues, call Genzyme Treatment Support. A case manager will be able to guide you through the process, helping answer questions and address your concerns along the way.
Call 617-768-9000 or toll-free 800-745-4447 (option 3). Who knows—you may even speak with Regina, Stephanie, or Joyce.

Capital Hill News

House could vote soon on bill to protect genetic privacy

Last year the Senate unanimously passed the Genetic Information Nondiscrimination Act of 2003. The bill was introduced by Sen. Olympia Snowe, R-ME and had 23 co-sponsors. It has Senate and presidential support, which can only highlight the importance of this crucial issue and the need for laws protecting this vital information. Now the bill sits with Congress. The welfare of everyone affected by a rare genetic condition should be important to us and our family members.

We urge you to call or write your congressional representative and express your feelings and concerns regarding the protection of genetic information. Ask that the Genetic Information Nondiscrimination Act of 2003 (S. 1053) be supported. Request they do what they can to ensure that this bill is brought to the House floor for a vote. As a constituent, ask that you be represented and this bill be supported.

It is the 50th anniversary of the discovery of the structure of DNA. With the recent (and ahead of schedule) completion of the Human Genome Project, the entire human DNA sequence has been mapped. Remind your representative that now is the time to take decisive action to protect those they were elected to represent.

New bill proposes phasing out Medicare disability waiting period

Ending the Medicare Disability Waiting Period Act of 2004 (S. 2566) is a bill introduced this year by Senator Jeff Bingaman, D-NM. Over the next ten years, this bill would phase out the 24-month waiting period currently required to receive Medicare health insurance coverage for those who are disabled and under age 65.

For those with a life-threatening illness, the bill provides a process for the waiting period to be waived altogether. This would be done during the 10-year phase-out period to provide immediate coverage where deemed appropriate.

A report was issued this year by Princeton-based Mathematica Policy Research, which stated that in 2002, an estimated 1.26 million individuals were trapped in this waiting period to receive Social Security Disability Insurance (SSDI). The National Organization for Rare Disorders (NORD) reported that of those awaiting, SSDI an estimated 400,000 individuals with disabilities who had no health insurance. It also said many more had inadequate insurance coverage. These numbers illustrate how many Americans lack adequate health coverage during a period when insurance is so desperately needed.

Take this opportunity and the time to add your voice to those of others and get these two bills passed. We encourage you to take action and let your representatives hear from you on these important legislative bills.

Reimbursement still causing problems, but task force working on solution

Medicare reimbursement for orphan drugs continues to be a matter of concern. FSIG has reported on this in the past and continues to follow, and participate in, discussions concerning drug reimbursement for patients receiving Medicare coverage for orphan drugs and biologicals such as enzyme replacement therapy (ERT). The Center for Medicare & Medicaid Services (CMS) is responsible for setting rules that govern how orphan drug costs are reimbursed under the Outpatient Prospective Payment System (OPPS).

Access to orphan drugs and biologicals was increased as a result of Congressional passage of the Medicare Prescription Drug, Improvement and Modernization Act of 2003 (the MMA). In it, changes were made to Part B, and a new Part D drug benefit was created. An unintended consequence of changes mandated for the way drugs were reimbursed resulted in payment formulas that did not properly account for infrequently used and small-volume products like orphan drugs.

This formula, which calculated reimbursement rates to hospitals and physicians’ offices, produced reimbursement rates that in some cases were well below the actual drug cost. Because many orphan products are expensive, the net effect was that drugs have became unavailable because no one could afford them.

The National Organization for Rare Disorders (NORD) recognized this situation and was moved to act on reports of inadequate access. Along with other organizations, NORD has formed a task force and is actively working to correct the problem. At the heart of the issue is CMS and the way it designates orphan products and assigns reimbursement status. CMS does not follow the same rules as the Food and Drug Administration (FDA) with regard to orphan drugs. Of the more than 260 FDA-approved orphan drugs, 100-plus are impacted by OPPS; only 12 have been designated orphans by CMS.

Congress acted this year to raise rates for many drugs under OPPS, but the victory is a short-term one. Next year, these rates may be reduced and reimbursement rates set by CMS for these and future drugs and biologicals is still a matter of concern. Yet to be addressed is which orphan drugs CMS will declare orphan.

NORD and others in the rare-disease community are not alone in their apprehension. Congress repeatedly has expressed concern about how orphan drugs and biologicals for rare conditions will be reimbursed for Medicare recipients. In September, an appropriations bill from the Labor, Health and Human Services and Education and related agencies made the following statement:

The Committee is concerned that Medicare patients with rare diseases may have difficulties accessing care that involves orphan drugs. The Committee encourages CMS to carefully consider the impact on this population in proposing regulations. The Committee encourages the Administrator to solicit the views of the FDA Office of Orphan Products Development and the NIH Office of Rare Diseases, as well as stakeholder groups, before determining whether an access problem exists or would be made worse by proposed regulations. (HR Report 108-636)

As a new product and the only FDA-approved treatment for Fabry disease, Fabrazyme®, has exempt status concerning reimbursement. This situation is not indefinite; FSIG has already learned of at least one hospital refusing to treat a patient because of reimbursement issues.

This problem is complex, but NORD has proposed an adequate solution. FSIG hopes this solution can be implemented in the relatively near future and that additional access problems can be avoided.

FSIG Volunteers

Newsletter gets new section for rounding up helpers

FSIG would like to introduce this new section to the newsletter: FSIG Volunteers. It will highlight the special, significant contributions made by those of you who are able to share your time and talent with FSIG in its efforts to assist the Fabry community. From time to time FSIG will seek volunteers to help with specific tasks and we may call upon you all for help in finding someone to address a certain role.

In this edition, we would like to thank Melissa James for contributing her considerable expertise as a copy editor. Her efforts have added greatly to the quality of this, and past, FSIG newsletters. Melissa has professionally edited for several city newspapers and specializes in writing headlines. We have asked Melissa to create titles for the articles in this newsletter, and I think you will agree this is another positive addition.

Many of you may be familiar with Melissa from her numerous, caring posts over the years on the FSIG Web site Discussion Page. While Melissa does not have Fabry disease herself, she is very familiar with its effects as witnessed in family members and through those sharing their experiences on the Discussion Page.

So, to Melissa James we extend a special thanks and recognition for her continued support and assistance as a valuable FSIG volunteer.

Volunteer(s) Needed: Newsletter Coordinator

FSIG is looking for a volunteer to take on the role of newsletter coordinator. As highlighted elsewhere in this newsletter, this is an important task and requires someone with passion for the job and willingness to commit his or her time and energy.

This role entails:
Coordination of article collection
Assistance in seeking authors for articles
Coordination and scheduling of newsletter creation
Potentially writing some newsletter articles
Interest in newsletter graphics and newsletter design
Interest in staying current on Fabry community issues
Good organizational skills and ability to work remotely with others

Technical requirements:
If this sounds like a position to which you would enjoy contributing, please contact FSIG at your convenience, (660) 463-1355 or

FSIG Thanks

FSIG would like to express our gratitude to the many physicians, health care professionals, researchers, scientists and industry working on our behalf. Their efforts are not always evident but make a great difference for us all.

Contributions in Memory of…
Daniel Joseph Bishop by Bertha & Carol Andrews
Ann & Maureen Balicki
Edwin & Ann Bishop
Samuel & Frances Bishop
Julie, Dave & Phil Bodoh
Warren & Doris Bowen
Elizabeth & Ernest Burt
Charles & Susan Caldes
James & Ann Conner
Maxine Crenshaw
Celia & Karen Hunter Curran
Linda & Roger Emmonds
Winifred Fioroni
Norma & Joseph Gogal
Norman & June Johnson
Charles & Doris Kristner
Christopher & Jennifer Lapoint
John Magdych
Richard & Nancy McBride
John Moran
Edward & Jean Mullarkey
Corey & Christine Murphy
Cope & Celina Pighetti
Robert & Rena Piper
Florence Read
Frederick Rider
Alfred Rios
Leon Ripley
Prentice & Laura Smith
Richard & Mary Stedman
Barbara Swords
John Tucker
Willette & David Wehunt
Stephen Zawada
Walter & Helen Zawada
Ray & Paul Beiber by Kay Beiber
Edith Bernhardt by Michael Bernhardt
William Wayne Butler by Christine Butler
David M. Cruickshank by Margaret Aston
Margaret Cruickshank
Dana Galyen
Herman & Jacqueline Griffin
Robert Gabriel by Henry & Nancy Gabriel
Ateo L. Gulino by Virginia Gulino
Pat Hoffman by Joseph & Kimberly Hoffman
Jack Helland by Daniel Tweeton
Robert & Charles Jansen by Gladys Jansen
Jane Killion by Alan & Sandra Killion
Don Lapour by Helen Lapour
Alan Larese by Larese Golf Tournament,
Lynn Boudreau
Chaz Leibowitz by Lynda Leibowitz
Doug Loden by Karen Loden
Claude Douglas Loden by Dr. Amy Shaw
Jerome Mann by Judy Mann
Isaac Montgomery Gray, Jr. by Cary Moore
Ricky Mott by Elvis & Florence Mott
Thomas Mott by Loretta Deer
Louise & Wesley Caruso
Wendy Eldridge
Susan Hunter
Arther & Thelma Mallowes
Janet Mitchell
Raymond & Anna O'Neil
Martha Smith
Tracy, Andrew & Wimberly Workum
Sherleene Sissell (For Fabry Research)
Steven Nelson by Leonard & Joanne Brumberg
Jeri Horman
Paul & Connie Smith
Warren Nichols by Edith Nichols
Sushila Patel by Hasit & Prearna Patel
James Powhatan by Debra Powhatan
Jim Sierman by Derek & Melissa James
Henry & Michalena Salbtnik by Cathy & Rick Krasnow
Wendel Snyder by Mary Lou Neill
Johnnie Smith by Judy Smith
Lisa (Gash) Stone by Donald & Shirley Gash
Jon & Ruth Grote
Jay & Pelar Johnson
Kathy Johnson
Norma Whitaker
Willa B. Thurber by Michelle & Chase Higinbotham
Greg Wyatt by Danny & Shelly Rice
Kin Schmidt by Edward & Barbara Wing
William Buck, Herb Atwood & Baby Boy O’Brien by Darin & Jennifer O'Brien

Contributions in Honor of…
Scott Arthur Athanasion by Arthur Athanasion
Travis & Linda Banta by Rickie & Debra Neal
Founding members of FSIG for your dedication & insight by Lewis Betts
My Mother & 2 Brothers by Annett Beck
Robbie & Andy Cevr by Lillian Hand
Affected Family by Humberto & Czarina Lopez
Grandson Travis Helmkamp by Gerald & Janice Helmkamp
Melissa Hay by Rebecca Cohen
Christopher Huff by John & Karen Huff
Rolland Duke, Bobby Horwedel byCapt H M, Ret. Army & Sylvia Yongdahl
New son, Jackson, born w/Fabry by Gregory & Kim (Norsworthy) Kondak
Paul Killips by Polish American Golf Tournament
Alan Larese by Lori Wise
Jeremy McCarter by Nana & Papaw Ogle
Terri Deneas
Christopher McCracken by Ann Norsworthy
Ronda Myers by Patricia Myers
Ronald Myers
Tom Olson by C. Joseph & Helen Kelleher
Jack & Kathy Johnson, Jason Frett by John & Cindy Schumaker
Walter Sturzen by Lisa Sturzen
Richard Thomas by Linda Weibel
Todd Winkel by Becky Winkel
Cameron & Cory Zahn by Joyce Streety
Grandson, Sean Yates, Brother-in-laws Roger & E. Robert Schmit by Edward & Barbara Wing
Dr. Barbara A. Wehmann by Virginia Gulino
Derek & Melissa James
Iola, Steve & Barbara Wehmann

Additional Donations…
Philip & Debra Adamo
Ann Balicki & Maureen Wrobleski
Michael Barcome
Thank you, keep up the good work by Paul & Brenda Catt Billings
Myrtle Arbuckle
Kenneth & Linda Cairns
Charles & Claudia Branham
Sue Brown
Helen Casey
John & Mirella DeAngelis
Joe & Helfand DePonte
Jon Q & Chi Doan Le
William & Nancy Farden
Barbara & Michael Fitzpatrick
Brian Freer
Bob & Amy Frett
F Gordon & Lee Gelfond
Robert Goldman
Jim Goodin
Larry & Rita Hardison
James Hunt
Veronica & David Jez
Charles Johnson
Randy & June Kirchhoff
Mary Beth & George Lauer
Lydia Lively
Sue Lucero
Denis & Ann Maguire
Dean Malanga
David Meeker
Diane Monson
Robert Noonan
Keith & Elizabeth Pulliam
Christine & Peter Radasch
Peter Radasch
Frank & Darice Roha
Thank you for the hard work by Dan Schrader
Stephen & Janet Schrader
Kelly Sheffield
Sandra & Albert Silva
Perrry & Lee Smith
Linda Todsen
William & Carhterine Tingley
Patricia Witt
Mary Yuska

We would like to acknowledge all those who think of FSIG by providing a memorial contribution at those difficult times when a loved one has passed away. These make such a caring tribute.

A special thank you goes out to those who participated in the Polish American Golf Tournament and the Larese Golf Tournament. Also thank you to the Johnson garage sale fundraiser. These special event fundraisers make a valuable contribution to the overall effort.

Thank you to Transkariotic Therapies Europe-5S AB for its continued support.

Special thanks go to Melissa James for continued editorial services on the newsletter.

A special thank you goes to all those who participated to make the FSIG Board Summit such a valuable and successful endeavor.

A special thank you is also due Genzyme Corp. for their continued, outstanding support. Industry provided unrestricted grants play a major role in the overall effort.

It is from a wide variety of support, including financial, logistical, advice and simple words of encouragement, that FSIG benefits. All these varied efforts combine to allow FSIG to continue to be here for you.