For over two years the shortage of Fabrazyme(R) made by Genzyme, the only treatment for Fabry disease currently approved in the U.S., has plagued people with our disease. The 1/3 or 1/2 doses of Fabrazyme(R) provided instead of full doses every two weeks have had an adverse impact on many people. We have had many reports of declining health compared to the improvements in health many people experienced while previously on a full doses of treatment.

Although we really have to give credit to Fabry disease for our declining health, the drug shortage has caused many of us to take a few steps backwards in our struggle with this progressive, destructive and life-threatening disease.

Luckily, the Fabry disease community received some recent good news. First, Shire HGT recently announced they reapplied for FDA approval to distribute Replagal(R) in the U.S. This great news provides hope for many people that our drug shortage will be over soon. With two drugs on the market, people in the U.S. with Fabry disease will have treatment options and presumably much less risk of another drug shortage. Second, Genzyme just announced that the drug allocation for November and December 2011 will be at or near a full dose depending on individual treatment schedules. Existing patients will receive two full doses in November and December.

People not yet receiving treatment will still have to wait for either Genzyme’s production to increase with the completion of their new plant or approval of Replagal which hopefully will both occur early next year. It seems that things are finally looking up for our community.

But, did you notice that I said we would “presumably be at much less risk of another drug shortage”? I would like to think so but I have doubts.

Unfortunately, when you have a rare disease like Fabry disease we often know more about our  disease than our doctors. Our disease education starts in our childhood with unexplained pain, unexplained fevers, inability to perspire, chronic abdominal pain and diarrhea, intolerance to heat and physical activity, and other early signs and symptoms. Many of us learn harder lessons as we age with early onset of hearing loss, lung disease, heart attacks, strokes and kidney failure.

It is understandable in the beginning of our relationship with a new physician that they often don’t remember much from medical school about our disease. After all, there are about 7,000 known rare genetic disorders aside from all of the mainstream conditions people know about. In the U.S. a rare disorder is defined by having fewer than 200,000 people affected.

Sometimes we are lucky and have access to a Fabry center of expertise and one of the few Fabry expert physicians and key opinion leaders located sparsely around the country. But even if one or two of our doctors know something about our disease, many of them don’t. Because of the pressure on physicians to see a patient every 20 minutes, many physicians that are not very knowledgeable don’t take the time to learn about us or take the opportunity to keep up with new findings. Our disease is rare. Sometimes we are their only Fabry patient.

Because we have so many symptoms our medical team usually consists of a lot of players. often no one but us assumes the role of the quarterback. It is very common for us to routinely visit a cardiologist, nephrologist, neurologist, pulmonologist, gastroenterologist, audiologist in addition to our internal medicine physician, family practice physician or geneticist, and sometimes others.

If we really want to stay on top of our health and live a better and longer life we must learn to find and read pertinent information about our many symptoms ourselves and share what we learn with our doctors. This also helps us to our ask doctors the right questions.

I take recently published or key journal articles on various subjects to my doctor visits. Sometimes I have read something I don’t understand and want to learn more or I want my doctor to know something that may influence how he or she treats my disease. In PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) there are over 2600 peer-reviewed medical journal articles published about various aspects of Fabry disease so there are a lot of articles to choose from. Many are free but many more articles can only be accessed for a fee.

Articles about Fabry in women and children are especially important because many physicians still incorrectly believe that females are not affected by our disease and because it can be difficult to decide when to start treatment for females and children. In fact, half of the people being treated with enzyme replacement therapy in the U.S. are females. There is a great deal known about our disease but new information is always being learned. We now know that managing proteinuria along with enzyme replacement therapy is essential to maintaining the best kidney health possible and other adjunct therapies are also recommended.

To help the Fabry community access some of the more important articles for free, we license them and put them on our website in a National Fabry Disease Foundation member only section. We can purchase them at an affordable price if we allow member access only rather than the general public. After you have registered on our website, you can access these articles from the Medical Publications tab on the left menu bar of our home page at www.fabrydisease.org.

You can also learn about the symptoms of Fabry or our website. This year we developed a Fabry disease educational calendar as another way to better educate our healthcare providers, family and friends about our disease. You can access information about the calendar at http://www.thenfdf.org/2012-Fabry-Disease-Educational-Calendar.

So everyone, please take your health in your own hands and be an active participant in your healthcare. Prepare well for your doctor’s visits. Prepare your questions and concerns ahead of time. Take a list of your meds. If your physician isn’t willing to learn about your disease, if you don’t think you are getting the best care, or if you cannot reach your doctor directly when you need them by phone or email, you may want to consider getting a different physician. Your health and your life depend on it!

Personally, I have a few great regular physicians and a few more I can ask questions when I need to. It has taken some time to build the team. One of my physicians in particular I would like to thank is Dr. Gerald (Jerry) Hladik, my nephrologist at UNC hospitals in NC. He is an amazing physician who never misses a beat. He is well informed, vigilant, observant, efficient, attentive, friendly, kind, and caring. I always feel like my health is in great hands with Dr. Hladik. Thank you Dr. Hladik.

Please make use of the journal articles on our website and call or write if you need assistance at jerry.walter@fabrydisease.org or 1-800-651-9131.

Proudly serving the Fabry community, Jerry

If you are an optimistic person like I am, things are looking up for people with our rare disorder, Fabry disease. Sometime in early to mid-2012 if everything goes well, we should finally have two treatment options available in the U.S. and an adequate supply of medication. We will continue to have access to Fabrazyme(R) made by Genzyme and we should also have access to Replagal(R) made by Shire HGT pending a fast-track FDA approval. This is great news for our community. Especially after we have seen what can go wrong with drug supply and have endured a prolonged shortage, it is critical to have more than one treatment option available.

This really does seem like great news and it is! Also, we have other pending treatment options coming our way in the near future such as the Amicus Therapeutics oral therapy in phase 3 clinical trials and possibly a treatment from Protalix Biotherapeutics  that should start clinical trials in 2012. We are extremely fortunate to have all of this industry interest in the treatment for our rare disease. Most rare disease communities are not so lucky. Personally, after being on biweekly enzyme replacement therapy for over 9 years I have exceeded the average age of death for an untreated male with Fabry disease by about 10 years. I count my blessings every day and I feel good about the possibility of living a few more years. I’m excited about this becasue I still have a lot of work to do for the Fabry community!

But without appropriate planning by our current and pending industry suppliers, will we still have another shortage in the future? So far, there are only a few thousand people in the world who have been recognized and diagnosed with Fabry disease. If you believe what I believe, this is only a very small percentage of the people worldwide who actually have our disease. The rest remain undiagnosed not knowing what is causing their many Fabry-related illnesses and premature deaths.

We hope that our drug manufacturers are planning on at least a ten-fold increase in the future demand for our treatment. Over 2600 medical journal articles have been written about Fabry disease. It is well studied even though there is much still to be learned. This literature is littered with references to Fabry disease being overlooked, unrecognized and undiagnosed. Recent newborn screening studies in Italy and Taiwan that have not yet been repeated in the U.S. indicate the incidence of Fabry disease is more than ten times current estimates. It is reasonable to expect that U.S. newborn screening results will be very similar.

There are several states in the process of organizing newborn screening for Fabry disease. We are very anxious to see the results of their implementation and for more states to get on board. Many people who have already been or will be diagnosed with Fabry disease are diagnosed too late, after damage to major organs occurs. Fabry disease affects the entire body from birth in the classic form so it’s a race again time to get diagnosed and receive the maximum benefit from treatment. However, even with pending newborn screening programs there will be a huge population of people under 50-60 years old that won’t be found through newborn screening. More education programs are desparetly needed now to increase recognition and diagnoses of the 1 to 60 age group.

We have contacted the National Institues of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) for help in implementing a nationwide Fabry disease awareness campaign. Through a continuing dialogue with NINDS we hope to get the help we need. It is ironic that we have a treatment for a rare disease because of assistance for research provided through the Orphan Drug Act but there are no similar established government programs to help find the people with our disease. This is truly an unnecessary tradegy.

We, the National Fabry Disease Foundation, are putting a lot of effort into providing nationwide family and physician education to increase recognition and diagnoses of our disease but we can’t do enough. The education process is slow and the clock is ticking on so many lives. We don’t want children with Fabry disease to suffer a diminished quality of life with the pain, inability or reduced ability to sweat, intolerance to heat and physical activity, chronic diarrhea, and other childhood symptoms. We don’t want adults with Fabry disease to have to endure lung disease, heart disease, kidney disease, TIAs and strokes, hearing loss and the other common symptoms that occur at such an early age. We don’t want people to be at risk of premature death that so often occurs in our community from heart attacks, stroke and kidney failure.

So, as we are working very hard with our limited resources to increase diagnoses to give people an opportunity to live better and longer lives,  will we have enough drug available to meet the increasing demand?

With help from current and new donors, we are going to work even harder to educate America and the world about the symptoms of Fabry disease. We will soon implement our new program called the National Fabry Disease Foundation’s R.A.R.E. opportunity project. The goal of this project is to Recognize And Rescue Everyone (R.A.R.E.) with Fabry disease.

WE HOPE INDUSTRY CAN KEEP UP!

If you believe in what we are doing, please take this R.A.R.E. opportunity yourself and become a National Fabry Disease Foundation (NFDF) donor and supporter. Your support to enable us to provide family and physician education programs can increase recognition and diagnoses of our disease. Everyone with Fabry disease deserves an opportunity to receive treatment and to live better and longer lives! Please help us in our fight against Fabry disease!

You can find the Donate Now button on our homepage at www.fabrydisease.org. There is also an opportunity to buy a new 2012 Fabry Disease Educational Calendar designed to enable a better understand of Fabry disease and to raise funds to support critical education and awareness programs.   To learn more about the calendar, visit http://www.thenfdf.org/2012-Fabry-Disease-Educational-Calendar. I designed the calendar and provided the content and the talented artist Mike Johnson who also has Fabry disease did the great artwork.

Thank you for your interest and support.

Sincerely, Jerry

“Proudly serving the Fabry community.”

In the past six years I have become accustomed to the unique aspects of nonprofit management and the challenges of earning donations from your supporters to implement critical programs. The biggest difference from my previous work in the military and the government and managing the National Fabry Disease Foundation is the way we obtain funds to provide support to our community, and why we do it?

The “why we do it?” part is easy. People, including me, usually start organizations like the National Fabry Disease Foundation because our lives have been touched in some way. In my case we have Fabry disease in my family. There are 18 of us affected in my immediate and extended family so far and three have passed away at a young age (around 40). My younger brother Ken passed away at 37 years old. This kind of unnecessary tragedy happens often in the Fabry community. As I prepared to retire from the military, I believed that I could start this organization and implement programs that make a difference in the lives of people with our disease.

In the military and government we had to design programs, develop cost estimates, submit funding requests, provide sound justification, compete with other organizations for limited resources, and evaluate the success of our programs to meet their intended goals. But thanks to congressional appropriations we already knew we were going to be funded at some level based on laws and regulations that mandated our programs and on the guidance we were issued in documents like the annual Defense Planning Guidance.

Nonprofit organizations must do all of these same things except we must find our own sources of funding from organizations and individuals who believe in what we are doing. Our mandate to help enable people with Fabry disease to live better and longer lives is self-imposed not driven by laws and regulations.

When you are an organization that supports a rare disorder it is difficult to get attention from people who don’t have a personal connection and because it’s rare, the population of people who have a personal connection is relatively small. It is a social dilemma that many rare disease communities share.

We are fortunate to obtain grants from the industry organizations like Genzyme, Shire HGT, Amicus, and Protalix who are engaged in research and producing treatments for Fabry disease, and from a family foundation with a connection to Fabry disease. We strongly encourage grants from industry organizations that include community support as part of their social responsibility and charitable giving programs. But while we are fortunate to receive these grants, the IRS has rules for nonprofits to ensure organizations are public-supported with community interest. A unique feature of nonprofit management is the IRS requirement to earn 1/3 of an organization’s donated funds from the public, not from industry or grant-giving foundations.

In certain circumstances nonprofits, including the National Fabry Disease Foundation, only have to earn 10% of our  donated funds from the public. But, even then, if we can’t meet the requirement we lose your charitable organization status and would have to close the organization. The 10% requirement is still a difficult challenge for a small organization and community with a rare disease that most people have never heard of. It requires many individual supporters making donations. The up side is the huge benefit gained from the many individual contributions to support additional programs.

Every year it is difficult to meet our IRS 10% public support requirement to keep our charitable organization status. We hope that understanding the IRS requirements for a nonprofit may encourage support from those in our community who believe in what we do but have not yet included our organization in you annual charitable giving plan.

With support from our community and the friends of our community, we can continue to provide critical Fabry disease education programs; our annual Charles Kleinschmidt Fabry Family Weekend Camp; our free, confidential Family Assistance Program; free Fabry community access to medical journal articles, and our many other programs. Please see our camp photo albums on our face book page at http://www.facebook.com/FabryDisease. (If you select a link while reading this article, use the back button to return.)

We encourage everyone who knows about Fabry disease to make a semi-annual or annual contribution to the NFDF.  If you are unable to make a contribution yourself, please encourage your friends, family members, and others interested in Fabry disease to support our organization.

You can make a donation anytime at http://www.thenfdf.org/page.php?id=120 or you can support NFDF fundraisers such as our 2012 Fabry Disease Educational Calendar by ordering a calendar and encouraging others to order a calendar too. See our flyer at http://www.thenfdf.org/wsc_content/download/NFDFCalendarDistributionFlyer11-07.pdf. You can also support our community by having a fundraiser yourself using our First Giving site at http://www.firstgiving.com/Fabry.

We sincerely thank everyone who is already a loyal supporter and those of you who respond to this call for community support. Together, we can make a difference!

Sincerely, Jerry

The Fabrazyme(R) shortage continues …

It seems there is little the Fabry community can do to influence a prompt favorable outcome to the prolonged drug shortage for treatment of our disease. We have had conversations with the FDA office of Orphan Drug Development and the office of Special Issues asking for help in resolving this dire situation. An increasing number of people with Fabry disease are suffering worsening symptoms and potentially irreversible adverse health impacts due to the prolonged Fabrazyme(R) shortage.

We are hopeful that Shire HGT will soon resubmit a Biologic License Application (BLA) for commercial approval of Replagal(R) in the U.S. We wrote Shire HGT again today requesting their prompt BLA submission and will wait for some news.

We can speculate why Shire HGT has not yet applied for U.S. commercial approval but we really don’t know. Our conversations with the FDA for both expeditious approval of Genzyme’s new Framingham manufacturing plant, which is delayed again until early 2012, and the expeditious approval of Replagal(R) in the U.S. are hindered by the FDA’s confidentiality rules. The FDA says they can only discuss the processes in general not specifics about their actual dealings with the pharmaceutical companies.

We will continue to seek opportunities to support prompt resolution to the Fabry treatment shortage. In addition to the approval of Genzyme’s new plant and our hope for prompt approval of Replagal(R), we look forward to the approval of Amicus Therapeutics’ oral medication and the start of clinical trials for the Protalix plant-based enzyme replacement therapy.

Our future outlook for having several treatment options available looks promising for the Fabry community but our current situation until this pharmaceutical industry log-jam breaks remains very desparate. People with Fabry disease have always lived an uncertain fate because we have a rare, progressive, destructive and life-threatening disease. We want despartely to regain the progress that was made and our hope for better and longer lives that we began to enjoy with the initial approval of a treatment in 2003.

Proudly serving the Fabry community, Jerry

Well, we spend months preparing for this annual weekend family event and it just goes by so quickly. But, what great fun it was! On 16 to 18 September, 2011 we held another tremendously successful Fabry Family Weelend Camp in honor of the late Charles Kleinschmidt, our camp’s namesake. We think of how ”Chuck” embodied the spirit of living life courageously with Fabry disease and for our short weekend we had a major blast in his name putting aside the daily burden of our disease. It was another weekend to remember for many years to come.

This year 39 families with Fabry disease joined us at Victory Junction for this fun-filled, adventure-packed weekend. We already set a record for weekend attendance with 35 families last year and then added four more. We brought together 143 family members and 20 volunteers from the Fabry community including 91 adults and children with Fabry disease. We brought families from seventeen states across the country. This is the largest gathering of people with Fabry disease anywhere in the United States ever.

And of course, the Victory Junction staff and many, many local volunteers did what they do best for our community. They showed us how to have a good time Victory Junction style. You have to see it to believe it! What an amazing facility and an even more amazing group of people.

From the minute we hit the ground on Friday afternoon until about Sunday noon we made choices between bowling, archery, fishing, horseback riding, kick ball, mini golf, arts and crafts, and many other activities. We ate, drank, smiled, laughed, danced, made friends, kissed fish, and made many great memories. See our photos on face book if you want to witness the fish-kissing first hand. Search “NFDF” in face book pages.

On Saturday evening we converged on the Pit Stop, not to be confused with the Fuel Stop where we ate our meals, for ice cream, popcorn, slushies, and cotton candy before heading for Stage Night in the camp theater. During Stage Night we were entertained by some awesome talent in our community and by the hilarious on-stage skits and antics of families and volunteers.

Because we have a rare disease, many families have not met other families with Fabry disease. Here, we have an opportunity to learn from each other about life with Fabry. Teens and kids find comfort and camaraderie in knowing they are not alone in their fight with Fabry disease.

This year we also held a one-day family conference in Greensboro, NC prior to heading for camp. Presentations were given by leading Fabry physicians to help families learn more about how to manage and monitor their disease. It also gave our families a little time to get to know each other before camp.

Then in a flash, we were tired, out-of-energy, and looking back on the weekend’s activities with smiles on our faces. We were headed back to the airport or in our cars on the way home again. Many of us are already thinking about next year. Once again we made history in our own unique way and were looking toward a brighter future.

We now have a stronger community and renewed strength to keep up our fight against Fabry disease. We have renewed hope for better and longer lives. We embrace the National Fabry Disease community support motto “Together we are better!”

For information about the National Fabry Disease Foundation (NFDF), the Charles Kleinschmidt Fabry Family Weekend Camp, or other Fabry community programs, please contact me at jerry.walter@fabrydisease.org.

Proudly serving the Fabry community. Jerry

It has been over two years since the initial projection by the Genzyme Corporation, the manufacturers of Fabrazyme(R) — the only U.S. approved medication for Fabry disease, of a 6 to 8 week supply shortage due to a virus at their Allston manufacturing plant. Since not long after the shortage began,  we (the National Fabry Disease Foundation) have received an increasing number of reports of seriously declining health from people with our disease.

Before our treatment (life-long, bi-weekly enzyme replacement therapy) was approved in April 2003 it was not uncommon for us to hear of disabling health complications and premature death due to Fabry-related heart attacks, strokes, and kidney failure. We expected it to happen; we have a rare, progressive, destructive and life-threatening disease. Like in many other families, my younger brother Ken died at 37 years old in 1999 before treatment was available as well as two other relatives at a similarly young age. Before treatment was approved, that was the life we were destined to have.

Beginning treatment in 2002 in a clinical trial at the age of 48, I felt very fortunate to have lived so long already. I was relatively happy with my life’s accomplishments and experiences and had reconciled with the expectation of a premature death. But now I had hope!

Having a treatment available enabled many of us to change our outlook on life. We imagined better and longer lives for ourselves,  our children, and our families. Personally, I began to make long-term goals again. In 2005, as I prepared for military retirement I founded the National Fabry Disease Foundation to help and support others with Fabry disease. There was and still is a tremendous amount of work to be done and I felt confident that I was going to be around to help.

We still have great hope for the future of the Fabry disease community overall. Despite the prolonged shortage, we are very fortunate to have an approved treatment available for a very rare disease. Also, there is  research in progress that should yield several more treatment options in the next few years. The majority of our community can still look forward to healthier, happier and longer lives.

But for some caught in the shortage who already have severe symptoms, life-threatening health complications or irreversible organ damage, the impacts of the shortage may be permanent. The longer the shortage continues, the more things may happen that can’t be reversed. To help these people, we need resolution to the shortage now!

As an organization, in the beginning of the shortage we felt that it would be resolved without too much delay. We tried to be patient while the wheels of industry and government turned slowly toward a resolution. Now, with the latest delay in the completion of Genzyme’s new Framingham manufacturing plant followed by a complete halt in Fabrazyme(R) shipping, we are again increasing our efforts to find some help now.

We have written to Genzyme to request they convert one or more Allston plant bioreactors from Cerezyme(R) to Fabrazyme(R). Because individuals with Gaucher disease have an alternate treatment available and their drug shortage ended months ago, we believe this action could be taken without harm to the Gaucher community. This conversion may require some work by clinics to convert people with Gaucher disease from one medication to another but it seems a small price to pay.

A larger issue for Genzyme is whether they are willing to forego profits from Cerezyme(R) sales for the sake of the health of the Fabry community. We are very grateful to the Genzyme Corporation for bringing our first treatment to the Fabry community and for their support to Fabry community programs. I for one am very grateful for the extended years of life. However, my gratefulness does not keep me from the belief that Genzyme should still take responsibility for not building a supply inventory long ago. They should make the hard decision to convert one or more  bioreactors until the new Framingham plant is shipping Fabrazyme, global Fabrazyme requirements can be met, and they have built an inventory to sustain availability in the event of another crisis.

With the latest disappointing Fabrazyme supply news, we have also requested help from the FDA to find a solution to this shortage. We spoke with the FDA in the beginning months of the shortage but it seemed as though any possible resolution would take longer than the shortage would last. We had no idea what was in store for us. Now after our letter of request for help and telephone discussions this week, we are continuing our dialogue and hoping something else can be done.

This is just one important major battle we have to win in our war against Fabry disease but it is the key to winning future battles. We believe that Fabry disease is much more prevalent than current statistics indicate. Based on two newborn screening studies in Italy and Taiwan, we believe there are at least ten times current estimates of people with Fabry disease in our country and around the world. Less than 5% of the thousands of people with Fabry disease in the U.S. alone have been recognized, diagnosed and given an opportunity to receive life-saving treatment.

This shortage is devastating to today’s relatively small known Fabry community. With increased physician and family education and the resulting increased recognition of people with Fabry disease, our need for treatment options and increased supply will be much greater than current needs.

To read more about our actions to help end the shortage, please see the Hot Links section of our website home page at www.fabrydisease.org

Proudly serving the Fabry community, Jerry

The bottom line up front is increased Fabry disease education has the potential to save and improve thousands of lives.

In many ways the Fabry disease community is very fortunate. Even though we have a very rare disorder we have gained the interest of a segment of the medical community and the pharmaceutical industry. As of this post there have been over 2600 peer reviewed medical journal articles written about Fabry disease since 1947. Our disease was discovered in 1898 and there were medical articles written before 1947 but we don’t have good data. There have been more articles written about Fabry disease than there are people in the U.S. who know they have the disease.  So, lucky for us it seems that Fabry disease is interesting to the medical community. Accordingly, due to this interest and the considerable study of Fabry disease a great deal of information has been learned about the disease process, its manifestation, and its management and treatment. But as you may expect with a rare disease, the knowledge gained thus far has revealed many more questions to answer and great deal yet to learn to achieve the best possible outcomes for people with our progressive, destructive and often life-threatening disease.

More importantly than the progress made in the study of our disease is the resulting development of a treatment for Fabry disease. In April, 2003 an Enzyme Replacement Therapy (ERT) to treat Fabry disease was approved in the United States. Many other countries around the world now have two different ERT approved options. There are also a few other treatment options being investigated that should be available in the next few years. This monumental accomplishment of the discovery and approval of treatment has changed the lives of thousands of people with our disease around the world. The treatment can slow disease progression and in many cases reverse some of the cell and organ damage already incurred. People with our disease now have some hope and the chance at living much healthier, happier and longer lives.

Before treatment became available many families like mine lost family members at a relatively early age. My younger brother Ken passed away from complications of Fabry disease at 37 years of age after being on kidney dialysis for 7 years. Similarly, I lost an uncle and a female cousin at relatively young ages because of Fabry disease. Having a treatment available has not eliminated the occurrence of premature death for people with our disease but has lessened the risk substantially for many of us. I am a living example of the possibility of a longer life. At 56 years old  I have surpassed the average age of death for an untreated male with Fabry by 6 years and I hope to live a while longer. I have been on bi-weekly intravenous enzyme replacement therapy for almost 9 years.

Unfortunately, even though we have been blessed with an abundance of studies and an approved treatment, as a community our battle is far from over. These accomplishments only help the small percentage of people who have been recognized and diagnosed with Fabry disease. Despite the many symptoms that could lead to a diagnosis, one published medical journal article entitled “Often Seen, Rarely Diagnosed” captures the essence of the incredibly tragic situation that still exists. The majority of people living with a severely diminished quality of life and the life-threatening complications of Fabry disease do not know the underlying cause of their many symptoms and associated illnesses.

According to our calculations for the U.S. population (see http://www.thenfdf.org/wsc_content/pics/user_upload/Fabry%20population.pdf) there are conservatively about 4,500 males with classic Fabry disease and symptomatic females, and an additional 47,000 males with later-onset disease. Based on Fabry Registry data, we believe that less than half of the people in the U.S. with classic Fabry disease have been recognized and diagnosed, and less than 4% of the total U.S. Fabry population has been recognized and diagnosed.

Based on the alarming realization that there are so many thousands of people missing the chance to receive available life-changing and life-saving treatment, the most important thing we can do for the Fabry community at large is to implement physician and family disease recognition programs at every opportunity. On behalf of the board of Directors of the National Fabry Disease Foundation and the Fabry disease community at large, I eagerly accept the challenge of implementing as many programs as possible to positively change the fate of the thousands of currently unknown members of our community.

Please do what you can do to join me in this very worthy endeavor.

Proudly serving  the Fabry community, Jerry

Greetings! As usual we always take a little longer than expected to get a new program off the ground. I believe it has something to do with having a small staff (me) and having many more “brilliant” ideas  about ways to support the Fabry community than there are hours in the day. It is always crazy around here but in a great way.

Anyway, here we are with our first blog post on our new “Jerry’s Fabry Disease Blog” site. There is always so much new information to share about what is happening in the Fabry community that doesn’t seem to reach everyone in a timely manner. We have been posting news on our website at www.fabrydisease.org, in our e-newsletters, and on face book, etc. but our new blog seems like a more efficient way to get our community frequent updates and to let everyone know when we have posted new information on the website. Of course, our website will continue to be our mother ship.

At the moment I am putting most of my effort into a couple of program areas; our upcoming Victory Junction Camp and our e-newsletter subscription service. As soon as we have these items under control, we’ll continue working on several Fabry disease education efforts.

We have notified families with Fabry disease to submit their applications to attend the expense-free Charles Kleinschmidt Fabry Family Weekend Camp at Victory Junction Camp in Randleman, NC. The camp hosts children between ages 6 and 16 with Fabry disease and their entire family. Victory Junction is an amazing place and we are going to have a blast again this year! Information about our camp is located in the Victory Junction tab near the bottom of our home page. It is the tab with the picture of the late Charles Kleinschmidt who the camp is named after. So far, we have received about 20 family applications and can accept about another 20. We believe this is the largest gathering of people with our rare disorder anywhere in the world. Please submit your applications promptly.

This week I am also trying to improve our e-newsletter enrollment and delivery. We send our e-newsletter to over 1200 people with a connection to Fabry disease. However, we noticed when we sent out the June 2011 issue many people who are subscribed did not receive the newsletter. We are in the process of troubleshooting the problem. We noticed that people who use Comcast did not receive it as well as many other individuals with other services where we have not determined a reason yet. Our June newsletter was published on June 9th. If you are subscribed and did not receive it, please check your spam folder and add my email (jerry.walter@fabrydisease.org) to your safe-senders list. If that is not the problem, contact your email service provider to determine the cause. Meanwhile the June 2011 newsletter can be found in the What’s Hot section of our website home page at www.fabrydisease.org. Please provide feedback if you discover a reason we should know about. You can also subscribe to the e-newletter from the What’s Hot section.

In addition to the above projects, I always have my hands in other various and sundry projects and programs. We’ll provide frequent updates on what we our doing.

We hope you find the new blog interesting and useful.

Proudly serving the Fabry community, Jerry