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From: speltzer2@...
Date: Thu Jul 11, 2002 7:42 pm
Subject: Action Alert on Medical Research

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Urgent!  Action Alert

THE PRESIDENT’S COUNCIL ON BIOETHICS ISSUED REPORT
CALL THE WHITE HOUSE AND YOUR SENATORS

The President’s Council on Bioethics Released Their Report on Human Cloning.
The Report Calls for a Four-Year Moratorium on Therapeutic Cloning for
Important Medical Research

Tell the White House and Your Senators MORATORIUM = BAN

Please Take a Few Minutes to Visit the
Coalition for the Advancement of Medical Research Website
(www.camradvocacy.org)
and Take Action In Support of
Somatic Cell Nuclear Transfer Research (SCNT)

The President’s Council on Bioethics released their report on Thursday, July
11th.  The report advises the President there should be a four-year
moratorium on somatic cell nuclear transfer (SCNT, commonly referred to as
therapeutic cloning).  The report is an effort by Leon Kass to influence the
Senate debate.  While a moratorium may sound like a compromise to many
Senators, it is a thinly veiled attempt at banning this important research.
ALL Senators and the President need to hear from YOU that a moratorium is
equal to a ban.

Call the White House and let your voice be heard, a moratorium is equal to a
ban:
202-456-1414

More than ever, we need you to contact your Senators to let them know that
SCNT is vital to stem cell research and must NOT be criminalized.  Tell your
Senators a moratorium is not a compromise.  Talking points and background
information are available on the CAMR Website (www.camradvocacy.org).

1.      A moratorium isn’t necessary. SCNT/human therapeutic cloning research
has been studied and endorsed by the National Academy of Sciences.

2.      A moratorium is a thinly veiled attempt at banning important research
outright.  Proponents of a moratorium know how difficult it is to lift one –
that is why they are proposing it.

3.      A moratorium would mean that important medical breakthroughs are put
on hold indefinitely.  People suffering from disease are told they will just
have to wait for their cures.  Many of these patients do not have time to
wait and a research delay could be a death sentence.

4.      A moratorium sends a strong signal to the scientific community that
SCNT/human therapeutic cloning should not be pursued.  Further, it
stigmatizes this research as suspect.  Researchers will be unwilling to
pursue this important area of science because of the stigma as well as the
uncertainty about whether it will ever become an accepted form of research.

5.      Shutting down research today and restarting it when a moratorium is
lifted is illogical. It makes no sense to impose a moratorium that forces
patients with diseases to wait two years before researchers can get started
on potential cures and treatments. A moratorium will hold back science much
longer than two years.

6.      With a moratorium, SCNT research will continue in other countries
while disallowed in the United States – the effects of this will be:
•       Scientists may leave this country to perform research elsewhere.
•       Americans will not have first access to the newest, and potentially
best, treatments because new products will be developed in other countries.
•       The U.S. will surrender its ability to lead the world not only in
research, but to set the ethical and regulatory standards about how this
research should be conducted.

7.      Senators Arlen Specter (R-PA), Dianne Feinstein (D-CA), Orrin Hatch
(R-UT), and Edward Kennedy (D-MA) have joined together to sponsor S. 2439,
the “Human Cloning Prohibition Act of 2002.”  The act would ban reproductive
cloning to create children, but permit privately funded research involving
somatic cell nuclear transfer (SCNT), sometimes called therapeutic cloning.
This legislation is widely supported among scientific, medical, and patient
groups.

8.      Senator Sam Brownback (R-KS) and Senator Mary Landrieu (D-LA) have
sponsored S. 1899, a bill by that would ban all cloning including SCNT; put
researchers in prison; and deny patients the benefit of any therapies
developed from therapeutic cloning outside the United States.


Make your support of SCNT known!!!!!

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From: speltzer2@...
Date: Tue Jan 15, 2002 4:02 pm
Subject: Erratum

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Please note the correction in the following article from our current newsletter:

FROM THE TRENCHES: TWO THERAPEUTIC CONSIDERATIONS FOR INDIVIDUALS WITH FAMILIAL DYSAUTONOMIA
by Suzanne Adler, MD

BISPHOSPHONATES:

One of the observations made at the spinal surgery of some children with FD is that their bones are softer than expected. Also, individuals with FD are more prone to repeated fractures or bone breaks, some of which go unrecognized because the associated pain is very mild. Over a long period of time, this can lead to permanent bone problems. A family of commonly used medications has been used with good effect in individuals with similar problems. This class of drug, called bisphosphonates, has been studied in children with a fragile bone disease called osteogenesis imperfecta, in diabetics who have nerve and blood vessel damage (which can cause bone and joint problems in the feet), in people with osteoporosis, and in a condition called reflex sympathetic dystrophy. The effect of bisphosphonates is to preserve the integrity of bone and to reduce the risk of further fractures and bone damage.

One of the bisphosphonates is called Pamidronate or APD. Pamidronate can be given intravenously over a few hours (note: not as a daily procedure as originally written). Our experience with one child with FD suggests that this drug may be helpful in familial dysautonomia as well. This case, an eleven year old prepubertal child with FD, who had a number of stress fractures around the knees and feet, was having frequent episodes of pain on the bony areas around the body, lasting a day or so. He received intravenous Pamidronate, (initially given every three months (note: not three per month as originally written) for about one year and then less frequently, depending on his bone pains). Testing performed before and during treatment included measurement of vitamin D and basic biochemical tests. All remained normal. A DEXA bone density scan was performed as a baseline and was found to be a little low for age. Following treatment, there was a rapid disappearance of the bone pains and this benefit lasted about three months after each infusion. The child has had no further major stress fractures and the bone density is improving. Pamidronate was not used for the effect on bone density but rather for symptom relief and the hope of preventing further bone damage.

Treatment with Pamidronate may be a therapeutic approach to bone pain in FD and it requires further study. Such treatment would be best done by a pediatric endocrinologist with access to a Bone Density Unit that has the expertise to interpret children’s bone density studies. (The analysis must take into account the size of the child and the pubertal status; the standard age-matched tables are inadequate.)

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From: speltzer2@...
Date: Tue Jan 15, 2002 10:38 am
Subject: Familial Dysautonomia Hope Newsletter, January 2002

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FAMILIAL DYSAUTONOMIA HOPE NEWSLETTER
JANUARY 2002

LETTER FROM THE EDITOR
by Mavis Feinberg

As we enter a new calendar year, FD Hope sincerely wishes all of you a healthier, happy, peaceful year in 2002. May our researchers discover ways to halt the progressive deterioration of our loved ones with FD, and may these researchers be well on their way to finding a cure for this physically and emotionally invasive fatal disease.

In FD Hope, we labor intensively to accomplish two dreams:
(1) that those living with FD and their families and friends will soon be blessed with a cure; and
(2) that all Jews of Eastern European descent or of unknown descent will finally learn about familial dysautonomia and will take the FD carrier test (both mutations) at the appropriate time in their lives.

Meanwhile, I for one am continually amazed by the enormous strength, love, and courage I witness on a daily basis in our FD extended family. Please read carefully through this newsletter, and then let us know if you will help us or if we can help you. If you are receiving this newsletter because you have been helping us with your generous support, we want you to know how important that support is to our urgent search for a cure, and we thank you with all our hearts.

Click here to email Mavis Feinberg.

LETTER FROM THE PRESIDENT
by Sonia Peltzer, MD

It is with a bittersweet mixture of sadness and joy that I write this letter. In reviewing the events of the past year, we have rejoiced at the tremendous advances in the search for a cure for our loved ones with familial dysautonomia. And at the same time, we have said tearful good-byes to too many of our loved ones. This newsletter is lovingly dedicated to the memory of those brave souls who lost their battle with FD. It is in their name that we will continue to work towards our goal of finding a cure and meaningful treatments for our FD family.

One year ago, FD Hope did not exist. In less than one year, we have grown to become a productive, efficient, all-volunteer organization. We have taken many steps down the path towards fulfilling our mission and have developed many more plans for the next year.

To date we have:
(1) Sponsored a meeting and a booth at the DDW conference, the largest gastrointestinal conference in the world;
(2) Conducted a survey of GI symptoms among individuals with FD;
(3) Produced a 40-page professional booklet on the GI tract in FD, with a review of the literature and contributions from several professionals, including Dr. Felicia Axelrod;
(4) Established and funded the David Rancer Memorial Fellowship. The first Fellow, Brian Fox, is currently working on FD research at the Laboratory for Familial Dysautonomia Research at Fordham University, under Drs. Berish Rubin and Sylvia Anderson. Drs. Rubin and Anderson published one of the two papers identifying the gene responsible for FD early last year;
(5) Funded FD research at the Laboratory for Familial Dysautonomia Research at Fordham University. A paper published in Gene by Drs. Rubin and Anderson is a result of the research we have funded;
(6) Funded FD research at Hadassah Hospital in Jerusalem;
(7) Produced a video about FD with the producers of the Arts and Entertainment Channel. This exemplary video has already been put to many uses: educating the medical community, insurance industry, Jewish communities, as well as educating the caregivers of individuals with FD. Nearly 500 of the videos have already been distributed, including approximately 200 to physicians;
(8) Petitioned the American College of Obstetrics and Gynecology to consider recommending FD testing to patients of Ashkenazi descent. We were the first organization to provide ACOG committee members with a position statement on FD testing, a petition by individuals encouraging the inclusion of FD in ACOG recommendations, and the supporting background medical information and citations;
(9) Notified labs throughout the U.S. of the availability of testing for both mutations responsible for FD, thus ensuring that FD testing is as complete as possible. As a result of our efforts, both mutations are screened at all but two labs that test for FD.

We have accomplished this with an all volunteer staff made up of parents and grand-parents of children with FD. FD Hope welcomes anyone interested in furthering our goals of finding a cure, supporting the FD community, and helping to prevent future FD births. Please contact any of us at the e-mail addresses listed in this newsletter if you are interested in sharing your expertise and contacts to help support our mission.

Thanks to all of you who have supported FD Hope this year and welcome to those of you who have joined us in our efforts. Wishing you all a very healthy and happy 2002!

Click here to email Sonia Peltzer.

CARRIER TESTING FOR BOTH MUTATIONS: WHERE AND HOW TO DO IT
by Chava White, MSW

It’s been a year since the FD gene was identified. In the course of that time a number of labs have started testing for FD, both as part of the Ashkenazi Jewish Carrier Testing Panel and as a stand-alone test. The FD gene has been identified as IKBKAP. It is important to remember that two mutations were identified. Even though one mutation is more prevalent than the other, we urge you to test for both!

It is essential for us to pass this important information to our loved ones as well as to other members of the Ashkenazi Jewish community who have not yet heard of FD. We are all aware of the significant prevalence of this disorder: 1 in 30 in the community of Eastern European Jews is a carrier of FD. The information is a simple blood test away! The following is a list of available testing sites:
(1) Genzyme Genetics - The largest provider of genetic services in the United States. It can be ordered as a stand-alone test or taken as part of the Ashkenazi Jewish Carrier Testing Panel. Your blood will be tested for both mutations, and the test is covered by many insurance carriers nationwide. Ask your doctor to call toll-free at (800)255-7357.
(2) Albert Einstein College, Yeshiva University, Bronx, NY (877)327-5962 (both mutations)
(3) Baylor College of Medicine, Houston, TX (713)798-6536 (both mutations)
(4) University Children’s Genetics Lab, Los Angeles, CA (323)669-2271 (both mutations)
(5) Mt. Sinai Hospital, NY, NY (212)241-6947 (only one mutation)
(6) New York University, NY, NY (212)263-5746 (only one mutation)

Click here to email Chava White.

NEW VIDEO EDUCATES MEDICAL AND JEWISH COMMUNITIES
by Ann Slaw, JD

In keeping with FD Hope’s goal to promote education and awareness in the medical community and to the public, we wanted to create a helpful teaching tool that would demystify FD. We knew from years of collective parent and grandparent experience that verbally explaining FD is frustrating, at best. Most descriptors like aspiration pneumonia, decreased pain sensation and autonomic crisis are met with blank stares. Knowing that a picture is worth a thousand words, we knew a video would be worth thousands more. We dreamed big and set our sights on producing an unprecedented video that captured the essence of FD.

We were fortunate to team up with independent producers for A & E and The History Channel to fulfill our dream. With roughly 15 seemingly unrelated symptoms, condensing FD into a nutshell was a challenging task. We opted to focus on the most common FD symptoms, insuring that the video would be universally useful. Together we created Andrew’s Story: Living with FD, a powerful, three-minute window into the world of FD.

Our video introduces you to a nine-year-old boy who lives in a very unstable body. It teaches you about the common FD symptoms that Andrew struggles with daily, and even features vivid images of an autonomic crisis. This dramatic video emphasizes the reality that FD is a "debilitating, progressive, and fatal condition". But you come away with hope, as researchers are working feverishly to discover helpful treatments and a cure.

You can educate and raise awareness of FD by using the video at doctors’ offices, hospitals, medical schools; for news releases in medical journals, newsletters, community newspapers; for presentations at temples and Jewish community groups; at your child’s school, for IEPs, at insurance companies; as well as for your own circle of family and friends.

We have received testimonials such as the following: "I can explain FD symptoms to my colleagues until I’m blue in the face, but no one understands. Now, I can hand them a copy of the video and they can experience FD first-hand." ---Dr. David Brottman, pediatrician, IL.

As a service, we are happy to supply this educational tool at no cost. Please consider a generous donation to:

FD Hope, Inc.
1170 Green Knolls Drive
Buffalo Grove, IL 60089

to defray dubbing, shipping, and handling costs and to contribute to FD research. Email us to request a copy.

Click here to email Ann Slaw.

FD RESEARCH AND ITS SWEEPING IMPLICATIONS
by Mavis Feinberg

What is so exciting to medical researchers about studying FD is the very rare opportunity this particular research provides to find answers regarding many major diseases. The FD population is scientifically pure, a homogeneous group with a common mutation that has a multitude of symptoms shared with many other diseases. Given adequate funding, FD researchers hope to find a cure for FD in five to ten years, and the results of this research will help us understand and find cures for those suffering from, among many other problems, the following:
(1) dysautonomia due to various causes (one million sufferers in the U.S. alone)
(2) Parkinson’s disease
(3) autism (children with autism can have symptoms of dysautonomia, and autistic features are more common among those with dysautonomia than in the general population)
(4) diabetes (dysautonomia is a well-recognized complication of diabetes)
(5) high blood pressure and blood pressure control issues
(6) heart rhythm abnormalities
(7) anxiety and panic disorders
(8) issues of pain control
(9) dry eye syndromes
(10) GI problems (including irritable bowel syndrome among others)

Please remember this, and help us raise the funds needed to sustain a high level of research into FD. The implications for treatments and cures for countless others from this research are beyond imagining.

Click here to email Mavis Feinberg.

UPDATE ON RESEARCH IN FAMILIAL DYSAUTONOMIA
by Sonia Peltzer, MD

The big news of last year was the identification of the gene responsible for FD by Drs. Rubin and Anderson at Fordham University and Drs. Gusella and Slaugenhaupt at Massachusetts General Hospital. Both papers were published in the American Journal of Human Genetics, confirming the location of the two mutations that are known to cause FD. The excitement that such news generated was beyond words. The hope for a cure has taken form.

In the twelve months since that announcement, the work to find a cure has continued. The lab at Fordham University, renamed the Laboratory for Familial Dysautonomia Research, has published a paper in Gene on the characterization of the mouse, rat, and rabbit IKBKAP gene. The research that produced this paper was funded in part by FD Hope. Slaugenhaupt’s lab at MGH has also published a paper on the characterization of the mouse IKBKAP in DNA Cell Biology.

The impact of these two papers lies in the similarities found between mouse and human IKAP protein. The gene structure between the two species is very similar, and most importantly, "the intron 20 donor splice site sequence, altered in the major FD mutation, is conserved in the human and mouse genes," (See Coli, Anderson, Volpi, and Rubin). This means that a mouse model for FD should be achievable. Once an FD mouse is developed, then future treatments and research can be conducted on mice before they are attempted on our children with FD.

In addition to the research mentioned above, an interesting article out of Japan suggests that the IKBKAP gene may be responsible for an increased risk for bronchial asthma in children. "These results indicated that specific variants of the IKAP gene...might be associated with mechanisms responsible for early-onset BA" (bronchial asthma). This association is important both for our understanding of the IKAP protein as well as for attracting more researchers to the study of FD.

Recent Research Articles:
(1) Coli, R., Anderson, SL, Volpi, SA, Rubin, BY. Genomic Organization and Chromosomal Localization of the Mouse IKBKAP Gene. Gene 2001 Nov14;279(1):81-9.
(2) Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JFm Slaugenhaupt SA. Cloning, Characterization, and Genomic Structure of the Mouse Ikbkap Gene. DNA Cell Biol 2001 Sep20(9): 579-586.
(3) Takeoka S, Unoki M, Onouchi Y, Doi S, Fujiwara H, Miyatake A, Fujita K, Inoue I, Nakamura Y, Tamari M. Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children. J Hum Genet 2001; 46(2):57-63.

Click here to email Sonia Peltzer

FROM THE TRENCHES: TWO THERAPEUTIC CONSIDERATIONS FOR INDIVIDUALS WITH FAMILIAL DYSAUTONOMIA
by Suzanne Adler, MD

BISPHOSPHONATES:

One of the observations made at the spinal surgery of some children with FD is that their bones are softer than expected. Also, individuals with FD are more prone to repeated fractures or bone breaks, some of which go unrecognized because the associated pain is very mild. Over a long period of time, this can lead to permanent bone problems. A family of commonly used medications has been used with good effect in individuals with similar problems. This class of drug, called bisphosphonates, has been studied in children with a fragile bone disease called osteogenesis imperfecta, in diabetics who have nerve and blood vessel damage (which can cause bone and joint problems in the feet), in people with osteoporosis, and in a condition called reflex sympathetic dystrophy. The effect of bisphosphonates is to preserve the integrity of bone and to reduce the risk of further fractures and bone damage.

One of the bisphosphonates is called Pamidronate or APD. Pamidronate can be given intravenously over a few hours as a daily procedure. Our experience with one child with FD suggests that this drug may be helpful in familial dysautonomia as well. This case, an eleven year old prepubertal child with FD, who had a number of stress fractures around the knees and feet, was having frequent episodes of pain on the bony areas around the body, lasting a day or so. He received intravenous Pamidronate, (initially given three per month for about one year and then less frequently, depending on his bone pains). Testing performed before and during treatment included measurement of vitamin D and basic biochemical tests. All remained normal. A DEXA bone density scan was performed as a baseline and was found to be a little low for age. Following treatment, there was a rapid disappearance of the bone pains and this benefit lasted about three months after each infusion. The child has had no further major stress fractures and the bone density is improving. Pamidronate was not used for the effect on bone density but rather for symptom relief and the hope of preventing further bone damage.

Treatment with Pamidronate may be a therapeutic approach to bone pain in FD and it requires further study. Such treatment would be best done by a pediatric endocrinologist with access to a Bone Density Unit that has the expertise to interpret children’s bone density studies. (The analysis must take into account the size of the child and the pubertal status; the standard age-matched tables are inadequate.)

CLONIDINE (TRADE NAME: CATAPRES, COMBIPRES)

Clonidine is commonly used to treat and prevent crisis. Sometimes frequent crises are noted around puberty, and clonidine has been used as part of the treatment regimen. However, the side effect of drowsiness can be difficult to manage. While the sleepiness that clonidine causes is a good side effect at bedtime, it causes much disruption during the day. The individual with FD who used clonidine may be over the crisis but has to go to sleep, thus missing school, work, or fun. There are two other related drugs that work in the same way as clonidine and are used widely in Europe to treat high blood pressure. These two drugs, moxonidine and rilmenidine, do not tend to cause the same drowsiness that clonidine does. We are conducting a preliminary study to compare the effectiveness of clonidine to moxonidine in the treatment of crisis, taking into consideration side effects.

NOTE: The information provided in this newsletter is intended to educate the reader and is not intended as medical advice. We urge you to discuss any new issues or ideas with your own primary care physician and make any decisions in a collaborative effort with a team of qualified health care professionals. The information provided here is not intended to replace the medical care provided by such a team.

Click here to email Suzanne Adler.

FROM THE GRANDPARENTS’ CORNER
by Irma Rapaport, PhD

Two of our seven grandchildren were born with FD. The love and pride we feel for all our grandchildren is magnified for them. Their warmth, enjoyment of life, and happy smiles touch our hearts in a special way. But it is their brave spirit and the way they cope as they struggle daily with their symptoms that fill us with admiration and pride. They are, indeed, special children. And these special children, your grandchildren and ours, need our help.

FD Hope provides us with the opportunity to make a difference in their lives, today and in the future. We can be proactive, helping to find better clinical treatments for their symptoms and a cure. FD Hope has accomplished much in the several months since it was formed, but so much more needs to be done. Your skills and your motivation to help can make a significant difference in our grandchildren’s lives.

We need you, but more importantly, your grandchildren need you. Our involvement with FD Hope has been incredibly rewarding, changing our feelings of impotence to feelings of hope that our grandchildren may be able to eventually lead a normal life. Please contact our Editor, Mavis Feinberg, at mavis.al@..., to explore ways in which you can make a difference in their lives.

Click here to email Irma Rapaport.

FROM A HERO’S GRANDMOTHER (BETTER KNOWN AS SAVTA)
by Caroline Sheffey

The first thing I tell everyone about my grandson Dovi is that he is my hero. He’s only four, and like all FD kids, he’s already had a lifetime’s worth of hospitalizations and discomfort. Yet, with it all, he smiles and laughs and brings our whole family a joy that is immeasurable. So when my daughter calls up and says Dovi has been signing for Savta, you can bet I’m in the car and over there faster than you can blink.

Each of us is devoted to our child or grandchild or niece, nephew, or friend with FD. And each of us would do anything in our power to make life better for them. What many of us don’t realize is that there is actually a lot we can do.

First and foremost of course is to do all we can to raise money for FD Hope’s funding of research to find better treatments and a cure for FD. Unlike many well-known, well-funded diseases, FD is all but ignored by the greater research community. But for us there is nothing more pressing than to find a cure. So, talk to your family, your friends, everyone you know, and ask them for their help. Don’t be embarrassed. It’s the life of your loved one that matters most.

Over and above raising money, there is a host of other very effective avenues we can take to help. To begin with, raising awareness of FD is critically important. I suspect you are just like us ---you probably had never heard of FD until it became a part of your family’s life.

There are countless people out there who have no idea FD exists. Talk to them. Do what my daughter did recently with two other FD moms. They set up a table at a Chanukah boutique in a synagogue and passed out information to everyone walking by. They were astounded by the number of people who expressed interest and wanted to know more.

Other ideas? Well, call your Rabbi and ask if a notice can be put in the synagogue bulletin that testing is now available. If your children go to a day school, contact them and ask to have a notice sent home with the children or put into a school newsletter. If you are involved in organizations, ask them to include an article in their newsletters. I just had a small article run in the newsletter of the North American Conference on Ethiopian Jewry that reaches 40,000 households across the country. Talk to your doctor and ask him or her to spread the word among their patients.

Use any contacts you have ---through work, communal involvement, social life, etc. to find places to educate people about FD, about testing, and about the urgent need for research money. It is a mitzvah of the highest order to help find the cure for FD, a mitzvah that will change for the better the lives of our loved ones and the lives of millions of people who suffer from other diseases that have symptoms in common with any of the many symptoms of FD.

Click here to email Caroline Sheffey.

BIRTHDAY CANDLES SAY IT ALL!
by Ann Slaw, J.D.

Birthdays are especially meaningful to our FD community. To help celebrate that special day, we would be delighted to acknowledge your child’s birthday by sending birthday candles and a card. Symbolically, we celebrate with you the triumph of another year. And as your child blows out the candles, please know we are fervently working for a better year to come! Contact Jill Margolis at frillm@... or click here with your request to place your child on our Very Important Birthday List. (Young adults and adults, don’t be shy.) Please request this symbol of our hope for a better quality of life for you all.

Click here to email Ann Slaw.

FD- NET - FD’S INTERNATIONAL E-MAIL FORUM
by Barry Orton, PhD

FD- Net is an e-mail network for FD families, caregivers, and interested professionals. Participants contribute questions, thoughts, observations and articles that are in any way related to FD. Since it began in 1994, FD- Net has become a primary means of communication and mutual support for about 100 families, including about 40% of all the FD families in the United States. But FD-Net is not at all limited to the U.S., as it has subscribers from all over the world, representing every continent except Africa. As with the disorder itself, the second largest number of FD- Net participants is in Israel.

As the largest and most active daily forum for the exchange of family-to-family information on this disorder, FD -Net welcomes all who wish to share in our continuing dialogue.

To subscribe, send the e-mail message:

SUBSCRIBE FD-NET YOUR NAME
Insert your own name
to: listserver@...

or Click here and send the message SUBSCRIBE FD-NET YOUR NAME Insert your own name.

E-mail Barry Orton directly with any questions or problems.

FOR DONATIONS: Please send your tax deductible checks payable to "FD Hope" to:

Kenneth Slaw, PhD
1170 Green Knolls Drive
Buffalo Grove IL 60089.

TO BE INCLUDED ON OUR E-MAIL LIST TO RECEIVE NEWSLETTERS AND ANNOUNCEMENTS: Send your e-mail address to Editor at mavis.al@... or click here to email Mavis Feinberg.

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From: speltzer2@...
Date: Tue Oct 30, 2001 4:20 pm
Subject: FD Hope Special Bulletin: Familial Dysautonomia Testing

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Familial Dysautonomia, Inc. Special Bulletin
October, 2001

FAMILIAL DYSAUTONOMIA TESTING REACHES THE NATIONAL LEVEL
--Genzyme to offer testing for familial dysautonomia (FD)
--Houston area Jewish Family Services to offer FD testing during
Ashkenazi Genetic Disease screening program


GENZYME GENETICS NOW OFFERING FAMILIAL DYSAUTONOMIA TESTING

Familial Dysautonomia Hope (FD Hope, Inc.) is pleased to announce
that Genzyme Genetics is now offering familial dysautonomia
testing . Genzyme Genetics is the largest provider of genetic
services in the United States, including testing, counseling and
educational services.  The test can be ordered as a stand-alone test
or part of its Ashkenazi Jewish Carrier Testing panel.  Effective
October 8th, individuals wishing to be tested for familial
dysautonomia by the genetic services division of Genzyme Corporation
will be tested for both of the genetic mutations that are known to
cause FD.

While carrier testing has been available since April, 2001 from
various regional medical centers, Genzyme Genetics' offering brings
FD testing to the national level. Genzyme's services are covered by
many insurance carriers  nationwide .  For more information on
whether testing is covered under your specific policy, please
contact  your local Genzyme Genetics representative or your insurance
carrier.   For professional support to physicians, Genzyme Genetics
can be reached at (800) 255-7357.

Other labs that are currently testing for FD carrier status include:
--Albert Einstein College, Yeshiva University, Bronx, NY  -  1-877-
327-5962
(both mutations);
--Baylor College of Medicine, Houston, TX  -  1-713-798-6536 (both
mutations, beginning in December, 2001).  Please see details below
for special testing program in Houston;
--Children's Hospital of Los Angeles, CA   -  1-323-669-2271 (both
mutations);
--Dor Yeshorim, Brooklyn, NY   -   1-718-384-2332 (both
mutations);
--Dor Yeshorim, Israeli Office, Rechov Strauss 21, Jerusalem 91506,
Israel
(both mutations)
--Mt. Sinai Hospital, NY, NY  - 1-212-263-5746 (only one
mutation);
--New York University, NY, NY   -  1-212-263-5746 (only one
mutation);

In January, 2001, two research labs announced the identification of
the mutations that cause familial dysautonomia. Drs. Berish Rubin and
Sylvia Anderson, of Fordham University, identified the FD gene as
IKBKAP, which encodes for the IKAP protein. Drs. Sue Slaugenhaupt and
James Gusella, of Massachusetts General Hospital, confirmed the same
two mutations. Papers from both research groups were published in the
March edition of the American Journal of Human Genetics.

The FD mutation follows striking founder effect genetics. The major
mutation, which occurs in 99.5% of the patients studied, causes a
problem in the splicing of the IKBKAP RNA, resulting in a deletion of
one of the protein's exons. A second, "minor" mutation causes a
single amino acid substitution in an important regulatory part of the
protein.  For more information, please contact the authors:

Dr. Berish Rubin, Dept. of Biological Sciences, Larkin Hall 160,
Fordham University, Bronx, NY 10458, Phone 718-817-3642, Fax 718-817-
3645, Email rubin@....

Dr. James Gusella, Dept. of Molecular Neurogenetics, MGH East, Room
6214, 149 13th St., Charlestown, MA 02129, Phone 617-726-5724, Fax
617-726-5736, Email gusella@....

Genzyme Corporation is a biotechnology company that develops and
markets innovative products and services for unmet medical needs.
With a strong international infrastructure, including extensive
capabilities in sales and marketing, manufacturing, and regulatory
affairs, Genzyme has a successful track record of working closely
with patients and physicians.


HOUSTON JEWISH FAMILY SERVICES TO OFFER ASHKENAZI GENETIC DISEASE
TESTING, TO INCLUDE FAMILIAL DYSAUTONOMIA

Jewish Family Service of Houston is sponsoring a special screening
program for Ashkenazi Jewish genetic disorders, including familial
dysautonomia, on November 18th. The event, which will be held at the
Jewish Community Center from 10 a.m. until 3 p.m., will include
genetic screening at significantly reduced cost, genetic counseling,
as well as education on the Ashkenazi Jewish genetic disorders.
Screening for Tay-Sachs Disease, cystic fibrosis, and Canavan's
Disease will be available for a suggested minimum donation of $36.
Testing for familial dysautonomia will be available for an additional
$25.  For more information on this program, please contact Mr. Donald
Wilson at Jewish Family Service, 713-667-9336.

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From: speltzer2@...
Date: Tue Sep 18, 2001 3:09 pm
Subject: Familial Dysautonomia Hope Newsletter, September 2001

speltzer2@...

Send Email

FAMILIAL DYSAUTONOMIA HOPE
Newsletter of September 2001

Dear Friends,

A tremendous tragedy befell the world on Tuesday morning. Who of us has not cried for the thousands dead? Each of those individuals, lives full of dreams and hopes and plans, are now gone. How do we pick up our lives, how do we go on, with the void left behind? The sage words of Rabbi Noah Weinberg, writing for Aish HaTorah, may help us find the answer. From the article “THE MADNESS”, by Rabbi Noah Weinberg. Found in its entirety at http://aish.com/ar.asp?an=2662:

“FIGHTING FOR A CAUSE
Our precious world is threatened by twisted minds who think the way to heaven is to murder innocent civilians.

We have only one chance to live a normal life. We have to look this evil in the eye and defeat it. Not passively and sluggishly. But with the same degree of passion, and the same level of commitment, that the evil is being waged against us.

Every human being has a personal responsibility to fight this epidemic.

Concretize your feelings about the World Trade Center tragedy. Say out loud: What did I learn from this? What am I going to do about it? And if I’m not going to do anything about it, why not?

Pledge yourself to fighting for good, for justice, for truth. Look around and see the problems facing us today. Ultimately, we are each committed to a cause. Whether it is world peace, political reform, or fighting racism – everyone is dedicated to something.

In some sick, misguided way, even the terrorists are fighting for their cause.

Choose your cause. Carefully. Figure out what you are willing to die for. And when you indeed live for that cause, you will have unparalleled power and purpose.

Once you have answers, make a plan to implement positive change into your daily life. Start slowly, taking one small step at a time, so not to be overwhelmed. Keep your eye on the goal and gauge your progress every day.” (end of excerpt)

At FD Hope we have passionately made the cure for familial dysautonomia our cause, and we have begun to create the positive changes needed to make a difference. The devastation that we witnessed this past week was a vivid demonstration of the fragility of life, something of which many of us are all too aware. Our hearts go out to the families who lost loved ones in Tuesday’s tragedy. And we pledge our vow to continue our own fight against FD, with the memory of their loss in our hearts.

With deepest condolences to all those who are in mourning,
On behalf of the Board of Directors of FD Hope,
Sonia Peltzer, MD

NOTE FROM THE EDITOR:

We of FD Hope wish all of you La Shana Tova, a good New Year. All of us in the FD community share a common cause ---that our FD loved ones survive, enjoy better health, and finally be cured. We therefore ask you to read this newsletter with a caring heart. In it you will find out about what we have done and are continuing to do to discover better treatments and a cure for FD, and to educate the world about FD, so that all who need to will seek out the carrier tests for this, as well as other Jewish genetic diseases, before planning to have a child.

At the end of each article you will find not only the writer’s name but also their e-mail address. Please feel free to contact them for comments or questions. You may wish to be part of our urgent mission of hope.
--Mavis Feinberg, mavis.al@...

LETTER FROM OUR PRESIDENT

Dear Friends, This time of year is one of introspection and soul-searching. For most of us the High Holy Day prayers to be inscribed and sealed in the Book of Life are full of meaning. The question “Who will die and who will live?” are the words that many of us carry in our hearts daily. 12% of the individuals listed in the 1998 FD Directory have lost their lives to this horrible disease. The median age at death was 24 (with a mean of 25), while the median age of the survivors is 20 (with a mean of 22). We cannot allow FD to continue to take its toll on our families.

FD Hope is committed to finding a cure urgently. Our children cannot wait. Please help us. In this newsletter you will find articles by our Board members on the establishment of the David Rancer Memorial Research Fellowship, an interview with the first recipient of this research fellowship, progress reports on our efforts to include FD in state disability funding, organ donation, our new video on FD to educate the public, and our programs in both northern and southern California to develop interest in FD carrier testing. Please consider participation in these efforts. If you have any other ideas or would like to become more involved with FD Hope, please send an e-mail to any address listed in this newsletter.

FD Hope has been working hard over the summer to raise funds and promote projects that will help our children and adults with FD. We have received over 500 donations to help us fight the battle against FD. We strive to remain fiscally responsible with these donations and despite our start-up costs as a new foundation, we have been able to direct 80% of our expenditures towards research and education. We hope to raise that percentage in the coming year.

At our national meeting in Houston in July, our Board developed plans for several projects which will further our mission to find a cure and expand treatment options for those with FD. We look forward to sharing news of our progress with you. Feel free to share your thoughts and priorities with us. On behalf of the Board of Directors of FD Hope, I pray that we are all sealed in the Book of Life for a healthy and happy year.
----Sonia Peltzer, M.D., President of FD Hope, speltzer2@...
    (828)466-1678

FD HOPE FUNDS FELLOWSHIP AT FORDHAM

At its meeting in Houston the FD Hope Board made its first award of the David Rancer Memorial Research Fellowship in response to a request for research funding. Dr. Berish Rubin, one of the lead researchers to announce discovery of the FD gene last January, presented a proposal that, among other activities, will begin to look at therapeutic options for FD patients. The funds will be used for the creation of a graduate fellowship in Dr. Rubin’s laboratory at Fordham University. The selected fellow will devote all of his or her time to FD research under Dr. Rubin’s direction. The fellowship has been named in memory of a young man who lost his fight with FD less than four months after the discovery of the gene.

During his presentation to the Board, Dr. Rubin also covered several other subjects. These included an update on his research work and the leads he is pursuing in the search for a treatment and a cure and a summary on what is now known about the genetic defect and the role of IKAP in the disease. Dr. Rubin also discussed the importance of arranging for organ donations from deceased victims, as a critical tool in pushing forward research to understand the mechanism of this disease.
----Mike Rancer, mrancer@...

THE IMPORTANCE OF PLANNING FOR THE FUTURE

In the sad event of the “unthinkable”, we parents of FD patients can choose to give special meaning to their lives. Please consider calling 1-800-59-BRAIN to make your child’s organs and tissues available for research. Your donation could help in the discovery of a treatment and a cure for those suffering from FD.
----Ann Slaw, Anio1170@...

PLEASE MEET OUR FIRST FUNDED FELLOW!

We would like to introduce all of you to Brian Fox, the recipient of our first David Rancer Memorial Research Fellowship award. Brian says, “I am honored and excited about the award. I hope to contribute to Dr. Rubin’s research on FD. Dr. Rubin and Sylvia are great role models. They are dedicated to the project, but more importantly to the people suffering from FD, including the families of those affected. All of us in the lab have taken our projects quite personally and are all committed to working as hard as we can to help understand IKAP and hopefully cure FD.” Brian grew up in the Philadelphia area and attended college at Penn State. He came to Fordham to be close to his fiancé, and they will be married next May. Speaking of his work in Dr. Rubin’s lab over the summer, Brian says, “I thought that working on something that few people are working on would give me the opportunity to help people that the big pharmaceutical companies won’t help because it is not profitable enough. Sylvia and Dr. Rubin have shown me the hard work and dedication that it takes to succeed. I try to work as diligently as they do, and keep pushing forward.” And, Brian, we all wish you great success!
----Mavis Feinberg, mavis.al@...

FD HOPE PRODUCES DRAMATIC EDUCATIONAL VIDEO

“Lights! Camera! Action!” In an effort to educate the public about FD and quickly raise money for a treatment and a cure, FD Hope has sponsored a short video featuring a child who suffers from this devastating disease, highlighting the most common features of FD. The producers at A & E took on the project, offering their services pro bono. Moving rapidly, they put together a top-notch team of musicians, voice-over gurus, and photographers. The result is nothing short of spectacular. The video features a child with FD who one minute is swinging at the playground and the next minute is retching up a storm. The stark contrast between “normalcy” and the “crisis state” is dramatic. Everyone who has seen the video reaches for the Kleenex (and their checkbooks). It packs a powerful emotional punch.

FD Hope’s desire to educate and raise funds using “a window into the life of a child suffering from FD” has been realized with this video. As parents, educators and fundraisers, we will now be able to stand in front of audiences and not only tell, but show, the people just how fragile our children’s lives are.
----Ann Slaw, Anio1170@...

LEGISLATIVE EFFORTS SUPPORTED BY FD HOPE

We continue to work hard to get our states to provide care and training for FD patients. Sondra Mallow, our Donor Development Co-Chair, writes “We continue to work on legislation in Florida to add familial dysautonomia to the list covered by Developmental Disabilities Services, Chapter 393. We wish to thank Senator Debbie-Wasserman-Schultz and her staff for their hard work --- and a special thank-you to Stephanie Grutman, Legislative Assistant.”
------- Scott Kutner, who has also been working tirelessly with the California State Legislature, for the same purpose, tells us that “there will be a hearing this spring, at which time the State Department of Developmental Services will report on their development of protocols to include FD for their services, through administrative rather than legislative means.”
-------- We thank Sondra, Scott, and all others who are working to ensure that all FD patients will have the care and training they need provided by the appropriate governmental agencies. If you would like to work on this project in your own state, please feel free to e-mail Sondra or Scott about how to get started.
---Sondra Mallow, smallow@... / Scott Kutner, skutner@...

SPECIAL NOTE:

There will be a special event on October 21, 2001, when a Jewish Genetic Program will take place in Jacksonville, Florida, at our local Jewish Community Alliance. If you would like to have a similar program in your Jewish community, please contact me for details, brochures, and speaker information. This is a great way to reach many people at once. Many of your local Jewish Community Centers and other Jewish organizations would be pleased to support such a program.
---Sondra Mallow, smallow@...

EACH OF US CAN MAKE A DIFFERENCE!

In the past couple of months we have had a couple of opportunities to make a difference in the effort to educate, advocate, and fund on behalf of our children with FD. First, we celebrated Evan’s Bar Mitzvah, and our son chose FD Hope as both his tzedaka and his mitzvah projects. He asked all those attending, through an insert in his invitations, to honor him with a gift to FD Hope instead of giving him a gift, saying “all I really need is a cure.”

Another opportunity presented itself when I learned of a community-wide screening for Tay Sachs. I contacted Jewish Family Service about the FD carrier test, which they will plan to do next year. I then contacted the Genetics Department at Baylor University, and they will offer the FD carrier test at a community-wide screening which will take place in November. Instead of testing as they had planned for only the major mutation, I put them in touch with Dr. Berish Rubin, who has shared his know-how with them, so that they will now be testing for the minor mutation as well. ---- Each of us can make a difference in educating, promoting, advocating, fund raising --- for our children’s sake. It matters not how large or small the outcome ..... it only makes a difference that we do it!
----Chava White, socialworker@...

CARRIER TESTING FOR FD

Mike Rancer is hard at work organizing a program of public education about all Jewish diseases and about carrier testing through University of California at San Francisco, to hopefully be funded by the Jewish Federation. Mavis Feinberg is busy in southern California with the Children’s Hospital of Los Angeles. In fact, the FD testing there was originally going to include only the major mutation. However, Mavis put the lab director in touch with Dr. Rubin, who is so willing to share that he has enabled Children’s Hospital to test for both the major and the minor mutations. Here is a partial list of where the FD carrier test can be taken:

--Albert Einstein College, Yeshiva University, Bronx, NY - 1-877-327-5962 (both major and minor mutations);
--Mt. Sinai Hospital, NYC,NY - 1-212-263-5746;
--New York University, NYC,NY   - 1-212-263-5746;
--Children’s Hospital of Los Angeles, CA   -   1-323-669-2271 (both major and minor mutations);
--Dor Yeshorim, Brooklyn, NY   -   1-718-384-2332;
--Dor Yeshorim, Israeli Office, Rechov Strauss 21, Jerusalem 91506, Israel (both major and minor mutations).

The fact that this carrier test exists means that no more babies need to be born with FD! Let’s all get the word out on this.
-----Mavis Feinberg, mavis.al@.../ Mike Rancer, mrancer@...

* * * NOTE TO OUR READERS:
If you would like to make a donation to help us continue the good work you have read about in this newsletter, please mail your tax deductible check, made out to “Familial Dysautonomia Hope”, to:
Dr. Kenneth Slaw,
1170 Green Knolls Drive,
Buffalo Grove, IL 60089-1144.

---- If you are getting a copy of this newsletter through the regular mail and have an e-mail address, please send it to us, so that we can use the money thereby saved to further our research projects. ----   Thanks!

FD Hope Newsletter:
Tell us what you think. E-mail suggestions to mavis.al@...
To subscribe/unsubscribe, e-mail your request to mavis.al@...
For more information on FD or FD Hope, go to www.fdvillage.org

Reply | Forward | Messages in this Topic (1)

From: speltzer2@...
Date: Tue Jun 26, 2001 3:17 pm
Subject: Familial Dysautonomia Hope Newsletter, June 2001

speltzer2@...

Send Email

NEWSLETTER OF FD HOPE�� June 2001
Introduction by Editor, Mavis Feinberg:
Last month we began this monthly newsletter with a general welcome, an
overview of our goals, and a request for all to join us in our efforts to
find a better life and a cure for all our FD loved ones.� In this issue we
are moving on to articles of missions accomplished or currently underway,
which may inspire you to help, with�YOUR ideas and�YOUR efforts.� Please
contact me at any time, with questions or ideas of how we all can work
together and reach our goals as soon as possible:� mavis.al@...��
--Thanks!!
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
A Message from FD Hope President, Sonia Peltzer, M.D.:
The Board of Directors of FD Hope takes very seriously its message of
inclusion.� We welcome any input or participation that will contribute to our
goal of finding a cure and more successful treatment options for those with
FD.� We will be having a Board retreat next month and welcome any suggestions
or comments that you would like to have considered.� Please e-mail or call me
or any of our Board members with your ideas.� We want to hear from you. -----
Sincerely yours, Sonia Peltzer, M.D., (828)466-1678,
speltzer2@...
****************************************************************
Pilot Public Education Project by Mike Rancer
With discovery of the genetic defect that causes FD, there is now an
increased need for public awareness of FD.� Combined with genetic screening
of potential parents, this can lead to a reduction in future cases and more
timely diagnosis and treatment of the cases that do continue to appear.�
There are five components to a successful program, and we are going to
undertake a pilot effort in Northern California to attempt to manage them
into an integrated whole.� The five components are:
(1)� An institutional structure that will support a continuing program of
outreach and education;�
(2)� a program that will integrate FD awareness with that of the other major
Ashkenazi diseases such as Tay Sachs;�
(3)� a funding base that will enable a large enough program to reach widely
throughout the community and penetrate deeply into it;�
(4)� a broad plan to make continuing contact with every group that can
provide entree to the Jewish population;� and
(5)� a targeted plan to educate those physicians most likely to come into
contact with FD and other�Ashkenazi diseases.�
Here in Northern California, where only four cases of FD have been diagnosed
in the last 20+ years, despite the large size of the Jewish population, we
are beginning to develop such a program.� The intent will be, over a defined
period of years, to reach a significant and measurable level of
genetic�testing and counseling and to improve the diagnosis rates for
children who are born with FD and other Ashkenazi diseases.� More will be
reported as the program develops.
..............................................................................

...............................
FD Hope Contributions to DDW Conference by Sonia Peltzer, M.D.�
In May 2001 FD Hope represented FD at the Digestive Daily Week (DDW)
Conference in Atlanta.� The DDW Conference is the largest gastrointestinal
conference in the world, with over 15,000 clinicians and researchers in
attendance.� It was an exciting time, and we accomplished so much more than
we had ever hoped to accomplish.� We produced a booklet entitled�"The
Gastrointestinal Tract in Familial Dysautonomia", a flyer summarizing the key
features of the GI involvement in FD, and we conducted a survey of GI issues
among individuals with FD.� FD Hope sponsored a booth and a scientific
meeting at the DDW Conference.�
Through our efforts we were able to accomplish the following:�
(1)� Our booth was well attended by the conference participants (we
distributed over 500 packets of information);�
(2)� We educated numerous physicians who had been previously unaware of FD,
including several Jewish New York gastroenterologists and Israeli
gastroenterologists.� We have over 20 names of physicians who are interested
in more information on FD;�
(3)� We stimulated much interest in research on FD, particularly interest in
research of clinical importance.� Several doctors expressed the desire to
remain "in the loop" of research interests in FD;�
(4)� We sponsored a meeting on FD, attended by twelve physicians, during
which we presented cases and discussed possible interventions for particular
situations;�
(5)� We learned of research and technologies which may be of relevance to
those with FD, and we will be pursuing these ideas;�
(6)� We made contacts with several other non-profit organizations who are
very interested in working with FD Hope toward our common goals;�
(7)� We were approached about submitting an article on FD for publication in
a peer-reviewed journal and have followed up on that offer.
------FD Hope's representation of familial dysautonomia at the DDW Conference
was a huge success.� We hope to represent our children's interests at future
conferences for other specialties that affect those with FD in the near
future.� Together, we can do much to help those with FD.� FD Hope is
committed to finding a cure.� We hope you will join us in this search with
your donation of time, energy, talents and/or money.
------If you are interested in receiving a copy of the GI booklet and
brochure, please send your request to:� Sonia Peltzer, M.D., 1457 O'Brian
Dr., Newton, NC 28658.�
-----Your generous donation to FD Hope will help to defray our costs and
allow us to pursue future conferences and fund the research necessary to find
a cure.� Please send your tax deductible donation to "FD Hope" to:� Kenneth
M. Slaw, PhD, 1170 Green Knolls Dr., Buffalo Grove, IL 60089.
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
Advocacy for FD by Scott Kutner
We all know that advocacy can take various forms.� In the case of FD, it
usually involves ordinary parents or grandparents taking on extraordinary
challenges.� Take legislative advocacy as an example.� On the face of it,
getting a new law passed which addresses FD and the need for state funded
developmental services, i.e. occupational training and independent living,
certainly doesn't appear to be an arena for the inexperienced.� There are 58
counties in California, for example, and each one operates their own Regional
Center for developmental services.------Nevertheless, a group of California
parents is now "working the system" and thus far has succeeded in having a
bill to establish FD statewide eligibility protocols introduced to the State
Legislature, passed by the State Assembly, and recently sent to the State
Senate for consideration.� There will be future episodes to share about the
California effort, but regardless of the outcome, it serves as a reminder to
us all that we are ready, willing and able to accomplish the extraordinary on
behalf of our loved ones.
****************************************************************
Fund-Raising:� How to Get Media Coverage, How To Do More in Your Community by
Sondra Mallow ------How to get media coverage?� Easy!� Call your local
newspaper or TV station.� Ask for the one who does "health issues" in the
news and speak to that person.� Ask them if they would be interested in doing
a story on FD.� It will be much more successful if you volunteer your family
for photos and personal information about the disease and how it has affected
you, your child, and your family.� Then you give general information about
FD, including where to be tested and where to call for more information or
donations.------If you wish to do more in your community, you will have to
contact local organizations within your own Jewish community.� Go to a
meeting.� Ask if they will help you.� Many organizations will be willing and
able to help (such as Hadassah, National Council of Jewish Women, your own
synagogue and those around your area, men's groups, etc.) ---- Use your own
local Jewish newspaper to get the word out about FD.� If you are unable to
write your own article, perhaps someone could help you.� YOU have to learn to
ask for help!� Give your community information to read, our web site, and
information about donating to FD Hope.� Some of us may have friends who are
able to give large donations or introduce us to people who know how to raise
funds and will help us.� If you do not want to talk about your personal
situation, let me help you.� I will send you my story so that you can make
copies and pass them out.----If you can't get started, please feel free to
call me at�(904)260-9308.� We'll talk and we'll figure out what would be good
for you and your family.� I do many things at once (I keep "churning the
pot", so to speak).� To my surprise and delight, many fine things are going
to happen.� Sometimes it takes time, but sometimes it just takes
talking.----In addition to helping with fund raising and educating your
community, you will be getting out in public, helping yourself to deal with
what life has dealt you, networking and meeting others, making new
friendships and renewing old ones.� All this has helped me cope and feel more
like I can control�an aspect of my life that I felt I had no control over
before.� I hope it helps you as well.� Be well!

Reply | Forward | Messages in this Topic (1)

From: speltzer2@...
Date: Wed Jan 10, 2001 10:01 pm
Subject: Re: FD Mutation found

speltzer2@...

Send Email

Dear Dr. Rubin,

Let me add my words of congratulations and thanks for what your department
has accomplished. Many of us have heard that the mutation will be identified
"within the next six months", for the past several years. �You have made it
reality for us, by caring enough for one child and indeed all of our
children, to pursue the identification of the FD mutation with the passion
and drive to make it happen. �I understand that your article, while available
in print form in the March edition of the American Journal of Human Genetics
late next month, will be available in their electronic edition as early as
next week. �I eagerly await it.

From my understanding, the IKAP protein is not well understood. �It is highly
conserved evolutionarily, which means that most animals will have this
protein. �The nomenclature for IKAP is very confusing, so if anyone is
planning to do research on the Internet on IKAP, be aware that it has been
called IKappaB, IKKAP, etc. �Look for IKAP linked with the researchers
Patrick Baeurele and Claus Scheidereit.
Here are some links that I found last year, when I read on the Internet that
MGH was considering IKAP as a possible candidate for the FD mutation (most of
this stuff is over my head!):
1. genetics of IKAP
2. IKAP nucleic acids (US5891719)
3. LocusLink Report
4. IKAP PROTEINS, NUCLEIC ACIDS AND METHODS (WO9925730A1)
5. IKAP identification (Baeuerle)
6. Homo sapiens IkappaB kinase complex associated protein (IKAP) mRNA,
complete cd
7. 1023: Genomic Structure and Localization of the IKBKAP gene to the
Familial Dys

Again, many thanks and mazel tov!!! You have truly done a mitzvah.
With highest regards,
Sonia

Sonia Peltzer, MD
speltzer2@...
828-466-1678
www.fdvillage.org

In a message dated 01/10/2001 7:47:21 PM Eastern Standard Time,
RUBIN@... writes:

All,
Allow me to introduce myself. My name is Berish Rubin. I am the
Chair of the Department of Biological Sciences at Fordham University.
I became interested in studying FD after a close friend's nephew was
diagnosed with this disease. Through this child, his siblings and
cousins, I learned first-hand how the disease can ravage a child and
a family. I decided to try to see what I could do for this family.
Several months ago, I directed the research efforts of my laboratory
towards the identification of the gene responsible for FD. I am happy
to report that we have identified the gene. The immediate result of
our finding will be the establishment of a genetic test for FD. It is
with great enthusiasm that the members of my laboratory have
pursued this effort. �We are now all committed to finding out how
this defective gene is causing FD and how we can use this knowledge
to help find a cure for FD. I am sure you all share our excitement.
I will keep you informed of our progress. For your information, I have
attached below a copy of the press release issued by Fordham
University. Finally, I would like to thank Dor Yeshorim, the Committee
for the Prevention of Jewish Genetic Diseases for their support,
assistance and encouragement.
Berish

FORDHAM TEAM DISCOVERS CAUSE OF GENETIC DISORDER THAT AFFECTS
PEOPLE OF ASHKENAZI JEWISH DESCENT

NEW YORK (Jan. 9) - Fordham University researchers have identified the cause
of a genetic disease that affects one in 30 individuals of Ashkenazi Jewish
descent. The findings are scheduled to appear in the American Journal of
Human
Genetics in March.

The Fordham team of scientists used the DNA sequence decoded by the Human
Genome Project to determine the cause of Familial Dysautonomia (FD). They
found
that FD is caused by mutations in the IKAP gene located on chromosome 9.

FD is a disorder that affects a person's autonomic nervous system, which
controls
such involuntary functions as swallowing, digestion, temperature and blood
pressure
regulation. Individuals suffering from FD, which is as prevalent as the
more familiar
Tay Sachs disorder, also have problems perceiving sensations, such as pain
and heat.
This can be so severe that researchers say an FD sufferer leaning on a
boiling pot may
not feel it and could be seriously burned. The lifespan of FD sufferers is
severely
compromised and often includes long hospital stays.

"This discovery will allow people to be tested to determine whether they
are carriers
and will allow for genetic counseling," said Berish Y. Rubin, Ph.D.,
chairman of
Fordham's biology department. "Also, once the genetic basis for any
disorder is
known, it is possible to pursue a cure. That will be the next step in our
research
effort." Rubin and his research associate, Sylvia L. Anderson, Ph.D., are
the principal
authors of the paper.

Rubin became interested in studying the disorder after a close friend's
nephew was
diagnosed with FD. Through this child, his siblings and cousins, Rubin
learned first-
hand how the disease can ravage a child and a family. "I decided to try to
see what
I could do �for this family," Rubin said. "It showed me the way FD can
affect an entire
family."

The Fordham team, which consisted of two senior scientists, four graduate
students
and one undergraduate student, received support and assistance from Dor
Yeshorim,
the Committee for the Prevention of Jewish Genetic Diseases.

Founded in 1841, Fordham is New York City's Jesuit university. It has
residential
campuses in the north Bronx and Manhattan, as well as academic centers in
Tarrytown
and Armonk, N.Y.

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From: "sonia " <speltzer2@...>
Date: Mon Jun 26, 2000 4:58 am
Subject: FDVillage Newsletter

speltzer2@...

Send Email

Familial Dysautonomia Village Newsletter:
Familial dysautonomia �FD Village
www.fdvillage.org
Vol. 1, No. 1
June 25, 2000


Table of contents:
1. What's New at FD Village
2. Exciting Updates
3. Notes from FD Day
4. Pesticides and FD
5. Advocacy:  NY State Bill #10978 on familial dysautonomia
6. Addendum




1.  WHAT'S NEW AT FD VILLAGE:

      The goal for FDVillage is to raise awareness of FD, catalogue
resources, and encourage research  that will help those with FD and
their families.  In the short time that FD Village has been up, we
have been viewed by over 600 visitors.   We are proud to announce
that FD Village was recently awarded the Facing Challenges Award (see
Facing Challenge Award Page).
      Updates to the site are being made constantly, so please visit
us often.  One of our most exciting updates is that FDVillage has
gone multilingual.  Go to our home page to see how you can instantly
translate the site into French, Spanish, German, Italian, or
Portuguese.
      It is our hope that FD Village continues to provide information
and support to all those who care about FD.  For topics you would
like to see addressed, for resources you would like to add (links,
book reviews, etc) please write FDVillage at Contact FD Village.
Please remember that we can only be as good as our collective
efforts.
....Also, thanks so much to the readers that have posted such kind
words.



2. EXCITING UPDATES:

      We are excited that our outreach efforts have been met with
great interest and enthusiasm by the medical and research community.
Familial dysautonomia is recognized as a disorder that is easier to
study given that the population is so similar and that a common
mutation is responsible for the FD symptoms.  The medical and
research community see this as an opportunity to gain information
that would not only help those with FD, but those in the general
population that suffer from similar symptoms or overlapping
disorders.   Various specialties are responding, and our hope is that
each specialty can give their understanding of FD.  Outreach efforts
currently under review by FD Village include:
      A.)  Ways to Avoid Crisis:  A biofeedback training program
developed by NASA for motion sickness in astronauts and orthostatic
intolerance when they returned to earth may someday soon be used to
help those with FD fight the symptoms of dysautonomic crisis on their
own!  This technique has already been applied with (earthbound)
patients with other forms of dysautonomia with significant reduction
in crisis symptoms and is being studied by several other
organizations interested in dysautonomia.  One of the exciting things
about this technology is that from a center that will manage the
patients, patients can be trained in the technique over the internet,
anywhere in the world.  Not only will this help our population, the
potential publicity might also help highlight the importance of FD to
other disorders and increase scientific interest in FD.  We plan to
pursue a collaborative look into this program along with other
dysautonomic populations.  More to come as developments arise...
	 B.)  Help for Dry Eyes:  One of the most significant symptoms
of FD is the lack of overflow tears, which not only results in the
need for artificial tears, but produces problems of corneal damage.
In addition, some with FD have also suffered from cataracts, and the
adult population has been reported to suffer from optic atrophy.
Furthermore, these eye problems and how the eye responds in FD can
help lead to a better understanding of FD.
	 This fall an International Conference on the Lacrimal Gland,
Tear Film and Dry Eye Syndromes: Basic Science and Clinical Relevance
will be held. This Conference is designed to: "assess critically the
current knowledge and 'state of the art' research on the structure
and function of tear film producing tissues, tears, and the ocular
surface in both health and disease."  The conference also has as its
goal, "to promote an international exchange of information that will
be of value to basic scientists involved in eye research, to
physicians in the ophthalmological community and pharmaceutical
companies with an interest in the treatment of lacrimal gland, tear
film or ocular surface disorders."   FDVillage is so thankful to
announce that Familial Dysautonomia will be part of this conference!

      FDVillage will keep you posted, as more details become available
on both these topics.



3.  NOTES FROM FD DAY:

	 To view notes on FD Day, see the FD Net archives (or your own
old mail files) for June 12 and 13 to read these postings.  Of
particular interest was an update on gene research in which MGH
states a firm belief that the gene will be completely sequenced in
the next 4-6 weeks and thus the responsible mutation will be found in
the next couple of months.
	 Also discussed were two new pieces of equipment used in the
cystic fibrosis population and now used in FD for chest physiotherapy
(CPT) called the"Acapella" and the "ABI  Vest".**
	 Finally, when asked about establishing cells at a brain and
tissue bank, Dr. Ostrer thought it would be a good idea and
encouraged discussion of such a cell line by the Medical Advisory
Board of the Foundation.  See  What's new at FD Village for a
discussion on this topic.

**AS ALWAYS, THIS IS NOT MEDICAL ADVICE AND AS SUCH ALL TREATMENTS
SHOULD BE DISCUSSED AND DONE WITH YOUR DOCTOR.



4.  PESTICIDES AND FD:

	 The US Environmental Protection Agency (EPA) pulled the
pesticides Dursban and Lursban off the market in the US last week.
Why?  They claim that it is harmful to children's nervous systems.
They further encourage limiting use on crops for human consumption
(and presumably recommend good washing of pesticide treated foods).
How does this affect us?  The government has now recognized that the
thousands of clinically proven cases of dursban poisoning a year
reflects a significant danger to growing nervous systems and to
nervous systems at risk, such as those of individuals with FD.
	 Given that FD is a progressive disorder, exposing individuals
with FD to pesticides may accelerate the progression of symptoms.
(To quote Dr. James Gusella's NIH grant to find the DYS mutation, "FD
is devastating disorder that involves progressive neuronal
degeneration ...")  Therefore it is prudent to use organic foods,
where possible.  While many of the premixed formulas are not organic,
there is one organic toddler formula available (see: Welcome to the
babyorganic.com Home) Page! .  It is also possible to supplement with
other organic foods (organic soy, rice, goat, or cow's milk; juices;
pureed foods; powdered drink mixes, etc).  Cutting out pesticides
when possible, can help preserve the nervous system to a greater
degree while we await answers from the scientific community.



5. ADVOCACY (NC STATE BILL #10978):

	 This bill introduced to the NY State legislature by the
chairman of the Mental Health Comm, Assemblyman Jim Brennan
(BRENNAJ@...), will ensure entitlements for those
with FD.  Please write him in support of this bill and include
information on what FD means to you.  Also of value, write to your
own NY congressman/woman (find out who they are via League of Women
Voters).  This bill has implications for those in other states as
well. By setting the example, the NY State legislature may make it
easier for similar actions in other states.  See a sample copy of a
letter submitted to FD Village at the end of this Newsletter. Copy
and paste it into your own write mail and send it off today!



We hope you enjoyed our first issue of the FD Village Newsletter.
Please send us your comments and feedback at info@....  And
look for the next newsletter in the near future.


6.  ADDENDUM:

SAMPLE LETTER FOR NY CONGRESSMEN:
June 5, 2000

Assemblyman Joseph Brennan
chairman
Mental Health Committee
416 Seventh Avenue
Brooklyn, NY  11215

Dear Chairman Brennan:

I am writing to you today to support Assembly Bill #10978, which was
introduced by Assemblyman Jeffrey Dinowitz.

Assembly Bill #10978 was introduced as a new bill to amend the mental
hygiene law to include the disease, Familial Dysautonomia (FD),
within the definition of a developmental disability.

FD is a genetic disease, which is present from birth.  FD causes
dysfunction of the sensory autonomic nervous system.  Those afflicted
have an inability to feel pain, suck, swallow properly, or feel
sensations of hot or cold.  Those affected have problems eating,
maintaining normal blood pressure, often have spinal curvature, and
also have lung problems.

Offering individuals and their families support from the State will
be invaluable and I hope you can help make this bill into law.

Thank you for your interest and consideration of this very important
bill.

Sincerely,

Name
Address
City, State, Zip
Telephone
email

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