"Heart to Hearth" is the SADS Foundation newsletter mailed three times yearly. It is designed to bring you information on the programs, events and philanthropic activities of the SADS Foundation as well as Medical Updates on the Long QT Syndrome and other related cardiac disorders.

INSIDE . . . . President/Medical Director's Report: News & Views: Scientific Advisory Committee Report: SADS Support Groups: Awareness: Viewpoint: SADS Blue Ribbon Awards: Networking Enrollment Form: Drugs to Avoid

The SADS Foundation 540 Arapeen Drive, Suite 207 Salt Lake City, Utah 84108. Toll free: 800-786-7723. Fax: 801-582-1941. Email: sads@mail.aros.net

PRESIDENT / MEDICAL DIRECTOR'S REPORT
G. Michael Vincent, M.D.

New Genetic Findings
Congratulations to Dr. Barhanin and colleagues from Valbonne, France and Dr. Sanguinetti and colleagues from Salt Lake City, Utah. In the November 7th issue of the journal Nature these two groups both reported that the LQT1 gene KVLQT1 combines with Min K, a previously identified protein, to form the cardiac channel IKs, one of two which are principally important for repolarization of heart cells. The other channel is the HERG gene, LQT2, which produces IKr . These important findings significantly increase our understanding of Long QT genetics, the molecular physiology of the syndrome, and the mechanism of arrhythmias.

Viva le Difference
Elsewhere in this issue our scientific advisor Dr. Kunitake Hashiba from Nagasaki, Japan describes his observations on the Long QT syndrome. He raises some questions regarding apparent gender differences in the syndrome. His and others' observations indicate there is a female predominance in patients identified by clinical (ECG and symptoms) criteria. The reasons for this are still uncertain. The condition is equally inherited by males and females. In a recent study of 208 Long QT patients identified by genetic analysis we found there were 104 females and 104 males, as expected of autosomal (no sex preference) inheritance. Why then should there be more females diagnosed as LQTS in the clinical series? It may be that females have more frequent, more severe, and/or longer lasting symptoms. Males may die earlier, undiagnosed, therefore leaving a predominance of females to be later diagnosed. Females (normals and LQTS) have longer QT intervals than males, so diagnosis by any QT criterion includes more normal females and fewer affected males, thus creating a gender bias. Whatever the answer, it is likely that the details will be unraveled in the near future, aiding our understanding and ability to diagnose this condition. Thanks so much to Dr. Hashiba for describing the fine work that he and his colleagues in Japan have done on LQTS.

Separating the Symptoms
It is often difficult to distinguish the syncope of Long QT Syndrome from that due to neurally mediated syncope (NMS, vasovagal, neurocardiogenic syncope, etc) and seizures, the conditions commonly confused with LQTS. As is true in many situations, the devil is in the details (of the circumstances surrounding the event). The following brief table gives some insights; these are generalities, there are exceptions:

Condition	Premonitory	Motor Activity	Breathing	Unconsciousness	Afterwards
Long QT Syndrome	No warning	Flaccid or irreg. jerks	Absent or gasping	1-2 minutes	Alert within 1-2 min
Seizures	Aura	Stiff, then rhythmic jerks	Impaired	Minutes	Disoriented 10-30 min
NMS	Dizzy, faint	Flaccid, none	Usually normal	Seconds	Alert in 1-2 min

These details are very important to the Doctor to determine the correct cause of the syncope. A careful description of the circumstances is very helpful.

Thanks to everyone for all the great work you are doing. Best wishes for the holidays and the New Year!

SADS NEWS & VIEWS

SADS SECOND ANNUAL NO BALL AT ALL
This fall we held our Second Annual No Ball At All at homes across America and raised over $25,000! As you can see on page 11, the support for our big "event" was spectacular. Thank you to everyone who participated for your generosity and kind words. A special thank you to Dr. Linda Shockley for "appearing" as our Guest Speaker. Her speech eloquently described the tragedy & frustration that the Long QT Syndrome can bring. But, as one reader pointed out: "There is great joy to be found when living with LQTS". Indeed, the ease and effectiveness of treatment is what makes deaths from the Long QT Syndrome so tragic. The overwhelming support for this year's No Ball at All was a universal voice that said WE MUST STOP THIS, and together, we can. It's not too late to "attend" our No Ball at All; please send your contribution in today.

NETWORKING
The SADS Foundation is very pleased to announce our new Networking Program. This will enable individuals with similar concerns and circumstances to communicate with each other. The program is free of charge. To join, simply fill out the form on page 9 of this newsletter, and mail it to SADS as instructed on page 10 by January 31st. We will match people with similar circumstances, then send each participant a list of individuals by February 28th. Once you receive your list, it is up to you and/or the others that receive your name to initiate communication. You can write letters or call each person on your list: whatever you would like. We anticipate a wonderful response and very positive results from this program. SIGN UP TODAY and encourage your kids to do the same. We welcome anyone over the age of 5.

FOR YOUR FAMILIES' GOOD HEALTH
Follow these tips to help maintain the good health of your family members with LQTS.

Screening
Did you know... In approximately 10% of LQTS patients the QT interval on the initial ECG is normal, and in about 40% the QT interval is not prolonged enough to clearly make the diagnosis of the Long QT Syndrome. In these cases, an exercise ECG or a "holter" ECG will usually assist in clarifying the diagnosis. The exercise test is preferably a low level, somewhat protracted exercise test, which allows the individual to exercise for 10 or more minutes without reaching a heart rate much in excess of 150-160 beats per minute. The principle abnormality to be identified is a prolonged QT interval relative to the heart rate, and the appearance of abnormal T-waves. If you have been told that members of your family do not have the syndrome based only upon a resting ECG, you may suggest those people go back in for an exercise test as described.

Medication
Is your child on enough medication for his/her weight? Individuals with the Long QT Syndrome should be checked for medication efficacy at least once a year, and if the individual is going through a growth spurt, he/she should go in every six months, or even after three months if substantial weight has been gained. Our preliminary data shows that the same exercise test as described above might be useful in assessing medication efficacy.

Weekly pill boxes
Keep your child's medication in a pill box that has the days of the week stamped on it. That way there is no doubt whether or not the pill has been taken. It is very important that medication is taken on time and never missed.

Medic alert bracelets
SADS urges all people with the Long QT Syndrome to wear a Medic-Alert bracelet, necklace or similar jewelry as an important precaution. Medic Alert is a non-profit organization that can be reached at 800-432-5378.

Local emergency room
Does the emergency room that you would use know about the Long QT Syndrome? Stop by and ask the ER personnel that they do an in-service training session on LQTS as well as keeping our brochure in their reference file.

HEALTH INSURANCE VICTORY! The "Health Insurance Portability and Accountability Act," (HIPA) which was approved by the United States House of Representatives and by the United States Senate, was signed into law by President Clinton on August 21, 1996. The Act guarantees that most workers who change jobs or lose jobs will have access to health insurance coverage. This bill is a huge victory for those with preexisting and genetic conditions and should greatly help families with the Long QT Syndrome and other genetic disorders. Some common questions. . . Will the new law help me with my "preexisting" health condition? Yes. HIPA prohibits employers that offer health coverage and health insurers that offer coverage in connection with employer-sponsored group health plans from excluding people with so-called "preexisting" medical conditions from coverage for more than 12 months. Once the 12-month period expires, no new preexisting condition period may ever be imposed on workers maintaining continuous coverage without a gap of 63 days or more. Also recognize that HIPA sets out federal minimum standards for portability and preexisting conditions. States are allowed to adopt shorter preexisting condition periods and, in general, to provide greater protections to consumers. What is health insurance "portability"? Portability does not necessarily mean you can take your same health insurance policy with you when you leave your current job. Instead, it means that when you move from job to job, your subsequent employer or health plan will have to give you credit for prior continuous health coverage, so they cannot impose a preexisting condition exclusion unless your coverage has expired for 63 days or more. Will I be able to keep my health insurance coverage if I have just been laid off, or leave a job to start my own business? Yes, under a current federal law called "COBRA", workers in firms with 20 or more employees usually can continue coverage under their current employer-sponsored group health plan for 18 months after leaving a job. However, after that period lapses, people with preexisting medical conditions often cannot obtain individual coverage. And, workers in small firms do not have access to COBRA at all. HIPA guarantees access to individual insurance for individuals who: 1) have had group coverage for at least 18 months; 2) are ineligible for COBRA or have exhausted their COBRA benefits; and 3) are not eligible for coverage under another group health plan. The provisions of the bill are generally effective on July 1, 1997. Individuals can begin accruing credit toward preexisting condition exclusions immediately. Group health plans must comply with all nondiscrimination, preexisting condition, and crediting requirements at the beginning of their first "plan year" beginning after June 30, 1997. Taken from the Summary by the Staff of the Senate Labor and Human Resources Committee and the Senate Finance Committee. Call SADS if you would like a complete copy of the summary, or you can access the entire bill at http://thomas.loc.gov, the Library of Congress website.

SAFE ALTERNATIVES TO DIPHENHYDRAMINE Our last issue of Heart to Hearth created quite a stir when we reported that Diphenhydramine, the active ingredient in oral Benadryl, prolongs the QT interval. We have since been asked several times for safe alternatives to Seldane (terfenadine), Hismanol (astemizole) and Benadryl (diphenhydramine) when treating allergies and congestion. They are: Claritin (loratidine) Zyrtec (cetrizine) Allegra (fexofenadine) All have been found not to prolong the QT interval. Thanks to Ray Woosley, M..D., for supplying this information.

SCIENTIFIC ADVISORY COMMITTEE REPORTS
A SADS Scientific Advisory Committee meeting was held on November 11 in New Orleans in conjunction with the AHA meetings. Current and future research directions of the SADS Foundation were discussed as well as SADS demographic findings regarding the LQTS and sudden cardiac death in young people.

THE LONG QT SYNDROME IN JAPAN
By Kunitake Hashiba, M.D., Nagasaki, Japan, SADS Scientific Advisor
Historical Aspects The earliest cases of the Long QT Syndrome in Japan were reported around 1970. At that time, LQTS was known to only a very limited number of Japanese cardiologists. In 1978, at the Symposium on Gene-Environment Interaction in Cardiovascular Diseases' at the annual scientific meeting of the Japanese Circulation Society, I reported results of the genetic analysis of 189 family members who belonged to the affected side of a total of 28 Japanese families with the Long QT Syndrome. In this investigation, I confirmed that LQTS is a disease inherited in an autosomal dominant fashion and pointed out a definite female predominance from the viewpoint of clinical severity as well as electrocardiographic abnormalities. These results were quoted in "Mendelian Inheritance in the Human Disease" by McKusick in 1986.
How Many LQTS Patients Are In Japan? We have no nation-wide statistics concerning the incidence of LQTS in Japan. To this date, 200 or more families have been documented as being diagnosed with LQTS. In general, all children are examined with electrocardiographic recordings in Japan at the ages of 6, 12 and 15. On occasion an asymptomatic child with QT prolongation is detected during these tests, but rarely. Usually, symptomatic children are diagnosed by their own physicians. We often see stories of sudden deaths during exercise or sports in our local newspapers. Unfortunately, the causes of these sudden deaths are usually not identified because the parents of the child do not want further clarification.
Support Groups for LQTS Patients We do not yet have any formalized LQTS patient support groups. The primary reason is that LQTS is not known to the general public and often not even to physicians. The fact that LQTS patients otherwise look and feel quite healthy probably adds to the difficulty of the patients identifying each other. Furthermore, there is a general tendency in the Japanese society for people not to talk about their hereditary diseases in public.
Treatment Most symptomatic patients are treated with beta-blockers, and some are also on Mexiletine. Sympathetic ganglionectomy and Internal Cardiac Defibrillators are seldom used thus far.
Recent Studies on the Gene and Ion Channel Abnormalities Since the advent of the chromosome studies on LQTS, first heralded by Keating and his associates in 1991, Japanese scientists have also been working on these subjects and several results have been reported. Families with chromosomes 11, 7 and 3 abnormalities have been reported in Japan. Mutations in the potassium or sodium channels are also identified in some of these cases, some of which are considered to be novel mutations and to be different from those reported so far in the literature. These results confirm the existence of genetic heterogeneity in LQTS also in Japan, and are expected to contribute to further understanding of diversities in clinical features of the LQTS and to more precisely target and effectively treat individual patients with LQTS.

SADS SUPPORT GROUP NEWS
NORTHERN CALIFORNIA SADS SUPPORT GROUP
Our first SADS Foundation Support Group meeting in Northern California took place on November 23rd at Alta Bates Hospital in Berkeley. Thanks to the hard work of Co-Chairs Sally Bobb and Sylvia Allen, we had a wonderful turnout. Dr. Michael Vincent spoke to over 30 people about the Long QT Syndrome and then the group broke into committees which will focus on Awareness, Physician Education, Family Support and Fund Raising. If you are interested in participating with this group, please call Sylvia Allen at 415-752-0446.

CRAB FEAST
Dawn Ellis and her family, in conjunction with the SADS Washington, D.C. group, held a Crab Feast SADS Fund Raiser on Sunday, September 15, 1996 in Windsor, Maryland. This event raised over $3,000 for the SADS Foundation. Thank you to Dawn and her family for volunteering hundreds of hours towards the project and to Ray Woosley, M.D., from our Scientific Advisory Boards for speaking at the event. What a great way to have fun, get together with good friends and family and help the SADS Foundation! Dawn is planning another fund raiser in March or April. Please let us know if you are interested in helping.

SADS CYBERCHAT
You are cordially invited to join other families and interested friends in a "chat room" to talk about issues that arise with having cardiac arrhythmia patients in your family. The sessions are unstructured and open to anyone who has interest in meeting other families with similar concerns. Where: Enter America-Online. Click on Go To. Click on Lobby. Click on Go To Rooms. Click on Private Room. Type in SADS and you should arrive! When: The third Saturday of every month at 9:00 p.m. EST/6:00 pm PST. (The next session will be on January 18th.) DON'T MISS OUT - SIGN ON

SADS AWARENESS SECTION
LQTS AWARENESS QUICK TIPS Every day families call the SADS Foundation and tell us that no one in their community knows about LQTS. LETS CHANGE THAT. Here are some fast and easy ways to educate people in your area about LQTS. EMT Associations: Do your Emergency Medical Technicians (EMTs) know about LQTS? THEY SHOULD. Call the local certification agency or even your ambulance service. Local Heart Association: Does your local AHA have our brochures on file? If you are interested in talking to other families in the area with LQTS, do they know about you? Put a sticker on the back of our brochure with your name and phone number and give a stack to the AHA. Fire Stations: Drop off some brochures at your local fire stations (you probably drive by 1 or 2 every day). Boys & Girls Clubs, YMCA, YWCA, & Day-Care Centers: Visit these facilities and ask if they will include LQTS in a staff meeting and keep the brochures in the employee lounge. Stress that they look out for young people who faint. Local library reference section: The next time you go to the library to check out a book, go to the reference section and leave some brochures. Sudden Deaths in the Media: Watch your local paper for reports of sudden, unexplained death in young people. Find out the individual's name, date of death, and place of death, and call SADS with that information. We will investigate the death and report back to you our findings.

MEDIA ACTIVITY
A big thanks to all of you who participated in our letter-writing campaign to Dateline and Oprah. We have been inundated by wonderful letters from so many people telling their life experiences with the Long QT Syndrome. We have not had any luck with either of these programs, but we will keep trying. In the meantime, local stories continue to be published and make a great impact on the general knowledge about LQTS. Please call us if you would like a media kit, or if you have received one and need some guidance on approaching your local media.

SADS AWARENESS S U P E R S T A R S
CHERI HINES, Mantua, New Jersey. Cheri first found out about the Long QT Syndrome almost three years ago when she saw a story about SADS and LQTS on television. She immediately suspected it was the cause of her daughter, Beth's, death at age 25 in 1991. Her other daughter, Erin, fainted regularly. She took Erin to a cardiologist where she was immediately diagnosed with LQTS. Since then, Cheri has taken it upon herself to educate everyone she meets about LQTS. She carries copies of our brochure in her handbag, and if the grocery store line is long, she gets out her brochures and starts talking! Our favorite story about Cheri took place when she was in a car accident and had to be taken to the hospital in an ambulance. Cheri looked up at the EMT from the gurney, and despite her injury, said, "I've got you right where I want you!" and launched into a discussion about LQTS. From that encounter, Cheri went on to meet the New Jersey state EMT association and got LQTS incorporated into their training program. GO CHERI! You are a SUPERSTAR!
CHRIS NIEUWENHUIS, Spokane, Washington. Chris resides in Deer Park, Washington with her husband Dave and their family. She is the Chairman of SADS Foundation Support Group in Washington state and very busy spreading the word about the Long QT Syndrome. Chris did such a great job of educating the public about the SADS Foundation and LQTS that the Washington Water Power Co. donated a computer system to SADS to help further the work more effectively. Chris's husband then gave her a printer for her birthday and she is really humming for SADS now! She has been working on getting an article published in the Spokesman Review as well as in other newspapers, radio and television. She spent some time this summer with her sister in Northern California and took a suitcase full of brochures and newsletters to pass out along the way. In January 1997, she has big plans to participate in various community conferences throughout the state by manning a booth for SADS. Thank you Chris and Dave for all your stupendous efforts !! We appreciate you. You are SUPERSTARS.
An Awareness Superstar is someone who is effectively taking the LQTS message to all avenues of public information. Our Superstars doggedly pursue the ideal that every person know the signs & symptoms of LQTS.

VIEWPOINT
KARA MIA by Maryann Anglim
April 7th, 1995 was a day which forever changed my family's life. My fourteen year old daughter, Kara, collapsed from a cardiac arrest at a junior high track practice. She was successfully resuscitated by the paramedics at the track, but not before the minutes of anoxia had left her with brain damage. Since that day, my family and friends have become experts not only in neurologic rehabilitation but also the Long QT Syndrome, which we now know was the cause of her arrest. Neurologically, Kara is still handicapped, but less so every day. The summer was filled with hikes at the beach and in the hills, swimming in the lake, sailing and tubing on the ocean . . . all activities which are fun for our family and also serve as rehabilitative opportunities for her. Her sense of humor is unfailing. Academically her skills are returning at different rates, but once again she is ‘reading and ‘riting and ‘rithmaticing, although not at her previous level yet. Her attitude is courageous and she has the ability to laugh at herself. I am amazed at how humbly she asks for and accepts help for tasks which were once so easy for her . . . tying her shoes, opening heavy doors, cutting her food. In many ways, she is my role model and I find myself saying, "if Kara isn't discouraged, how can you possibly consider being discouraged?" But some days are difficult for Tom and me. In my heart, I want Kara to be the way that she was the morning that she left the house on Friday, April 7th, walking down the street with her blue L.L. Bean backpack, blithely meeting her friends for their walk to the bus stop. Kara is supposed to bounce down the steps telling me, "Mom, Kate and I are going to ride our bikes to Vanessa's house." But that is not our reality and if I show anything less that courage and optimism and humor and perseverance, I am not doing my best for Kara and our family. Her recovery hinges upon Tom and me, and we cannot ever let her down. I once saw a show on Eleanor Roosevelt who had the philosophy of not ever letting anyone see her cry. When she was sad, she would go in the bathroom and run the water loudly and cry her eyes out. I can't tell you how many times I did this. I would take a bath and let the water and the tears flow. There were months that our water bill must have decreased greatly because the tub was always half-filled with tears. So this is the reality with which Tom and I live every day. How do we do it? I'll give you the simple key which is in a verse which someone recently quoted to me. I have no idea who the author is, but I would like to shake his or her hand.
Isn't it strange that princes and kings And clowns that caper in sawdust rings, And simple folks like you and me Are builders of eternity? To each is given a bag of tools, A soul to save, a set of rules, And each will fashion ere time has flown A stumbling block or a stepping stone.

I think that it is obvious that Tom, Kara and I have fashioned a stepping stone, and for our family, it is the only option we are willing to take. During the four months that Kara was in the hospital, I kept saying to anyone who would listen, "I am going to write a book about this." Most people would look at me and roll their eyes and say, "Yeah right, Maryann." Well, Kara's neurologist, Walter Allan, M.D., and I did indeed co-author a book entitled Kara Mia. The book has many facets, and, of course, one of the main ones is the same as the SADS Foundation, and that is to increase public awareness of the Long QT Syndrome. It was our way of fashioning a stepping stone. Maryann Anglim, RN, lives with her family in Bath, Maine. "Kara Mia will be published in the spring and books will be available by mail order from Seahorse Press of Maine. More details will be included with our spring newsletter. If you wish to order early you can contact Seahorse Press, Box 38, Bath, ME 04530 for details

BLUE RIBBON AWARDS
Elizabeth Liebel, Fairport, NY, is an optimistic, beautiful and intelligent 14 year old. She was diagnosed with LQTS in October of 1995. She has survived 2 episodes of near death. She is now on Beta blockers and doing well. Beth also has a severe hearing loss. She has been main streamed in school and speaks very well. She is a truly a joy to be around and touches all who meet her with a vitality and conviction to live life to the fullest. This year Beth entered a communication contest for the hearing impaired which was sponsored by the Optimist Club of Rochester. The required theme for the speech was "Now is the time . . ." to be filled with any answer the participants chose. Beth answered, "Now is the time to embrace your life". The speech highlights how her near death experiences have given her a renewed belief that resiliency, humor and belief in oneself are the keys to living life to its fullest. Beth won second place and her family is very proud. She has a remarkable spirit and hopes to be a lawyer for the physically disabled someday. This summer, she participated in a summer program to learn business skills and do an internship with a lawyer. She also volunteers in the hospital in the pediatric unit, plays in the band, does gymnastics, is learning Sign language and French, and enjoys being a twin. What an inspiration Beth is to all of us!
Jennifer Liebel, Fairport, NY, is Beth's twin sister. Jenny, has gone through all of this with her sister and has been a wonderful support. In fact, before Beth was diagnosed, she nearly drowned in the pool, and Jenny actually saved Beth's life by dragging her out of a pool filled with screaming kids where she could get no one's attention. Beth was blue and unconscious. Jenny got her parent's attention and their mother performed CPR on Beth. Submitted by her parents: Jeff & Dianne Liebel
Jake Kiester, Lansing, IL. When doctors diagnosed Jake with LQTS, they told him he could not participate in competitive sports. His father, Jeff, immediately helped Jake direct his interests toward magic arts. Now as the 10-year-old "Amazing Jake", he performs at school functions and private parties. He has 5 doves which he takes care of and uses in his act and this impresses his young audience. He has seen his favorite magician, Lance Burton, in Las Vegas several times as well as David Copperfield. This past July Jake attended a magician convention in Las Vegas. He is also a Cub scout and likes sports. He is an avid Chicago Bulls fan. Submitted by: Mrs. Betty L. Nicholson, Jake's grandmother.
Eric Nathan, Larchmont, New York, Eric (11) placed first in trumpet last year in a county-wide music competition, which earned him the right to play first trumpet in the Elementary All-County Festival Orchestra in Westchester County, New York. Eric loves to play all kinds of music on trumpet and piano - from classical to jazz - like his hero, Wynton Marsalis, whose jazz concerts Eric attends regularly. A seventh grader, Eric plays in his school's band and jazz group, while also performing with a Wind Ensemble at a nearby music school. Although the Long QT Syndrome keeps Eric out of competitive sports, he has found ways to enjoy sports informally, shooting baskets and throwing forward passes with amazing accuracy. He has been dealing with Long QT and all that it entails (pacemaker, daily medications, etc.) for the past five years (having been diagnosed after fainting in a race during first grade). It hasn't been easy, but Eric has faced each new challenge head-on and has definitely made the most of things. Submitted by Amy Nathan, Eric's mom.
Robert & Paden Riley, Marshall, MO. Robert (9) and Paden (6) are just all around great kids. They both do well in school, they play well together (most of the time!), and they bring their mother a great deal of joy. Both of them take their medicine with no arguments. We have known about LQTS for 4 years, and Robert and Paden have adjusted to it well. They are just exceptional kids in all they are and all they do. Submitted by their mom: Sharon Riley
Mark & Cheryl Daley, Bathurst, New Brunswick. Mark (13) and Cheryl (11) are both in Superior Middle School in Bathurst, New Brunswick. They and their father were diagnosed 6 years ago when Mark had a syncopal episode while swimming competitively. Now they both play in the school band. Cheryl enjoys jazz dancing and basketball while Mark is an avid reader and computer fanatic. He enjoys playing recreational hockey and tried golf this past summer - a great sport for LQTS patients! Their mom keeps them hopping while she helps raise awareness about LQTS in Canada. Submitted by their mom: Gayle Daley