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.