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"HEART to HEARTH"
Our Summer 1997 Newsletter
Heart Disease on the QT

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INSIDE

President/Medical Director's Report
News & Views
SADS People: Awareness Superstars & Blue Ribbon Awardees
SADS Scientific News- The Jervell, Lange-Nielsen Syndrome
Viewpoint
SADS Foundation Networking
Drugs to Avoid

NIH-SADS WORKSHOP: The SADS Foundation helped fund an NIH scientific workshop on LQTS on May 12-14, 1997, at the NIH in Bethesda, Maryland. The meeting, entitled "LQT Syndrome: Patients and Paradigms", was organized and coordinated by Peter Spooner, Ph.D., Director of the NIH Arrhythmia Research Program, and involved 19 international experts in fields ranging from molecular genetics, ionic and cellular cardiac electrophysiology and clinical medicine. Session topics included 1) Genetic Basis of LQTS 2) Molecular Therapeutics and/or Conventional Therapies 3) Channel Dysfunction and Malignant Arrhythmias and 4) Myocardial Mutations and Arrhythmogenesis: New Directions. The results of this excellent workshop will be published in a major cardiology journal and should be a very important contribution. Thanks to Dr. Spooner for organizing such a productive workshop and to all the participants. The SADS Foundation is pleased to be a part of this effort to better understand arrhythmias and to improve care for patients with LQTS.

JERVELL, LANGE-NIELSEN SYNDROME: Recently, the publications by Neyroud, et al, and by Splawski, et al (see insert box on page 6 for references) have defined the genetics of this form of LQTS. In this issue of Heart to Hearth, Splawski provides an overview of their findings, and SADS Board of Trustees member Katherine Timothy uses these new findings to emphasize the importance of family pedigree expansion for both research and clinical care purposes. The new findings may provide some confusion regarding the genetic transmission of Jervell, Lange-Nielsen. The long QT-arrhythmia-syncope and sudden death part of the syndrome is transmitted as an autosomal dominant trait due to mutations in the LQT1 gene KvLQT1; only one abnormal copy of the KvLQT1 gene is required to produce these findings. The deafness part of the syndrome is transmitted as an autosomal recessive trait, since both copies of the KvLQT1 gene must be abnormal in order for the hearing mechanism to be affected.

APPRECIATION TO SADS STAFF: It is with great appreciation that I thank our SADS staff, Katie Roberts and Lynne Godfrey, for their commitment and efforts. They are an enormous resource to the Foundation and a great asset to all who have or are concerned with LQTS. They bring dedication, concern and caring for all which extend far beyond their "jobs". They are a major factor in the tremendous success of the Foundation. They are terrific!

THANKS: Thanks to everyone for the wonderful things you do on behalf of SADS and LQTS. It is obvious that your efforts are making a difference! We appreciate you very much!




NEWS & VIEWS

The SADS Networking Program launched with the last Heart to Hearth has been a tremendous success! We have now had well over 100 individuals sign up for the program and have supplied each of those individuals with a list of people who have similar situations and concerns. If you have not yet enrolled, please print and then fill out the form below and send it back to us as instructed. The program is free of charge. We have had excellent feedback from participants: many people have told us how helpful it has been to resolve some long-standing emotional challenges, while others tell us they have received some great advice for dealing with physicians and school employees. We are so pleased to have the opportunity to offer such a valuable service and hope it will be well utilized by the families we serve.

SADS Foundation Networking Enrollment Form:



Name		

Address

City, State Zip

Date of Birth:					Male 		Female

Phone: Home 		     Work			    Email 

Please check & answer the related questions as they apply to you: 

 I have LQTS. 	 My child (children) has LQTS. 	age(s):	

 My brother / sister has LQTS.    	

 I lost my (daughter, brother, mother, friend...) to LQTS.   	Date of death:			     					Age of person when he/she died:

 I lost my (daughter, brother, mother, friend...) and the death remains unexplained. 	

      Date of death:									Age of person when he/she died:	

 I have a pacemaker___	 I have a defibrillator___

Are there any other specific situations/circumstances that you have that are not listed above? 



Who Networks?Anyone who wants to communicate with others who are affected by the long QT syndrome or sudden cardiac death.  We welcome anyone over the age of 5.  For children under the age of 18, their Parent or Guardian must sign below.



Signature:														Date:		      Relationship:



How does Networking work? This programs enables individuals with similar concerns and circumstances to communicate with each other.  To 

join, simply fill out this enrollment form and mail it to SADS as instructed on the back.   We will match you with individuals with similar circumstances, then send you a list of these individuals within 3 weeks after we receive your completed form.  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.  SADS does not guarantee the willingness of anyone to communicate.



There is no fee to enroll in this program, however, SADS is not responsible for the costs that occur as a result of communication. 



The information contained in this form will be used solely for the purpose of networking.  The SADS Foundation, its officer, trustees, employees and volunteers shall not be held liable in any way for actions taken by anyone involved or not involved in the Networking Program at any time.  



Thank you for participating in our program. We hope you enjoy it! We appreciate any feedback or comments.



Please print the form, fill out and mail to: SADS, 508 E. South Temple, Suite 20, Salt Lake City UT 84102

Or Fax it: 801-531-0945

SADS held a planning dinner on Wednesday, May 14th in Columbia, Maryland with local members of long QT families and other SADS colleagues. The meeting was very productive and the individuals who participated have a great deal of energy and drive to help the SADS. Thank you to Ralph Hardy who generously paid for the dinner and to Dawn Ellis and Bob Costello for planning the event. We look forward to a powerful SADS effort in the Washington area. Please call SADS if you are interested in participating with the group.

It is time for the second annual SADS Crab Feast!! (Is your mouth watering?) This scrumptious evening is scheduled for the second week of September in the Baltimore area. Please call Bill Mudget at 410-298-4441 if you are interested in helping plan the Feast or if you would like to donate food, beverages or paper condiments for the event. They are also looking for sponsors for a "sponsor book". All of the proceeds from the Crab Feast go directly to SADS to help fund our life-saving programs. The planners of the Crab Feast have already found a company to match up to $2500 in donations, (Yey!) so please help support SADS and the Crab Feast.

In the last issue of Heart to Hearth, Maryann Anglim shared her insights and experiences with the long QT syndrome in our column Viewpoint. The inspiring book that Maryann and her daughter's physician, Walter Allan, M.D., wrote about LQTS and its effects on Maryann's daughter with LQTS, Kara, is now available. Kara Mia offers readers a unique perspective on a teenager's sudden cardiac arrest, diagnosis of LQTS and living with its aftermath. Kara was 14 when she suffered a cardiac arrest while running track. Her life, those of her family, friends and doctor were changed as they struggled to cope with this tragic event. But cope they did and Kara Mia chronicles all the difficult steps along the way from Kara's resuscitation, hospital stay, her diagnosis of long QT syndrome and continuing rehabilitation outside the hospital. Kara Mia is a story of love and support, tears and laughter. Photographs show Kara with family, friends and medical staff as she improves. A glossary and bibliography are included. Our own Dr. G. Michael Vincent writes the forward: "Kara Mia's story is a tale of tragedy ... it is also a beautiful story of courage, strength, and faith, and the ability of the human spirit to rise above and grow from the challenges and hurdles which are placed into the lives of many of us..." Kara Mia is a must read for anyone who has been touched by the long QT syndrome or sudden cardiac death. Everyone at SADS read it (straight through) and was gloriously moved. You will cry & rejoice with Kara and the people who love her. To order Kara Mia, please send a check for $15.95 (includes $3.00 shipping and handling) to: Seahorse Press, P.O. Box 38, Bath Maine, 04530-1617. Maine residents, please add $0.78 tax. Or, please call toll-free 1-888-442-7445. For a further look at Kara Mia go to www.gwi.net/SeahorsePress.

Less than 10% of the 350,000 Americans who suffer a cardiac arrest each year are discharged from a hospital alive. The key to survival is timely initiation of a series of events, coined the "Chain of Survival". The chain includes early activation of the emergency medical system: basic cardiopulmonary resuscitation (CPR); rapid defibrillation; and early advanced cardiac life support. Weakness in any link lessens the chance of survival and condemns the efforts of an emergency medical system to poor results. After as little as 20 minutes, very few resuscitation attempts are successful. Strengthening the chain of survival is of crucial importance to families with the long QT syndrome, and particularly to those families who do not yet know they have the syndrome.

Unfortunately, pre-hospital medical care (including training, equipment and standard of care) suffers from state-by-state variation, which sentences the public to inconsistent care. It is clear that legislative interventions can substantially affect the delivery of pre-hospital care which directly results in increased survival rates. In cities such as Seattle, Washington and Rochester, Minnesota, where state legislation has required early access to EMS, early CPR and early defibrillation which has dramatically increased survival rates. First responders to a cardiac arrest are legally permitted to use Automatic External Defibrillators (AEDs) in only half the states. Amazingly, less than one half of EMTs, in the United States are trained and equipped to defibrillate. As for basic life support training, more than half the states in a recent study had no secondary school curriculum requirements for first aid and CPR.

SADS is working hard to change this discouraging and dangerous situation. In partnership with the American Heart Association, the American Red Cross and 2 dozen other national groups, the SADS Foundation is sponsoring the Cardiac Arrest Survival Act, introduced by Representative Cliff Stearns (R-FL-6). This legislation establishes a federal program regarding training in lifesaving interventions and the heightened access and wider use of lifesaving equipment, including AEDs, to assist individuals experiencing cardiac arrest.

SADS was also a co-sponsor for the AHA Public Access II Defibrillator Conference, Strengthening the Chain of Survival, held in Bethesda, Maryland April 17-19, 1997. The conference focused on public access defibrillation research. It featured five state-of-the-art sessions, seven concurrent workshops and a poster session. A report which summarizes the presentations and describes the outcome of the workshops will be published in Circulation later this summer. SADS is hopeful that the conclusions from the conference will bring us one step closer to expanded access to external defibrillators.

The SADS Foundation is launching an aggressive physician education program through the generous support of the Intermountain Health Care Foundation (IHC). We have targeted 5 physician groups for whom knowledge about the long QT syndrome is critical. We are exhibiting at each of these groups' annual meetings which will allow us to directly interface with over 18,000 physicians who may well see a patient with the long QT syndrome. Our educational exhibit contains printed information about long QT, syncope and sudden death. We have already attended one meeting: the American College of Physicians (ACP) meeting in Philadelphia, which was a wonderful success. Our exhibit was well received and was seen by over 5,000 Internists! We handed out hundreds of packets and made many new friends and contacts. We expect the remaining conferences to be a sound and solid step towards educating every physician about the long QT syndrome. The remaining meetings are as follows: National Academy of Medical Examiners (NAME), September 12 - September 16 in Baltimore, Maryland
American Academy of Family Physicians, September 17 - September 21 in Chicago, Illinois
Child Neurology Society, October 29-31, in Phoenix, Arizona
American Academy of Pediatrics, October 31-November 4, in New Orleans, Louisana

Rose and Ray Parodi have always enjoyed the Super Bowl with family and a few friends. This year, however, they decided to take the party one step further and make the day a SADS event! They sent simple hand-written invitations with one page of information about SADS and LQTS. They charged $15 a person or $25 for a couple. Rose said the event quickly became a family affair - her kids and their friends were "super" involved and helped to prepare the food and festivities. Everyone was thrilled to be helping SADS. The event was held in memory of Rose's brother, James Diggins, who had passed away recently. The Parodis generously donated the food and beverages so all of the proceeds went directly to SADS and over $900 was raised! Thank you, Parodi Family!

Karen Shehadi, Warren, Ohio
Karen became suddenly involved with LQTS when she heard her son, Shaun, fall out of bed early one morning in January 1996. She and her husband rushed Shaun to a local hospital where he was defibrillated and life-flighted to a children's hospital. Several arrests, two strokes and over one week later, Shaun came out of a coma and the diagnosis of long QT syndrome was made. Shaun is now 11 years old, participates in outpatient rehab and is doing very well.

After this terrifying ordeal Karen is fervently spreading the message of the long QT Syndrome all over Ohio. She has visited all of the hospitals in her area and has spoken at length to various staff people, most notably those who are in charge of the hospitals' education programs. The hospital staffs have been very helpful and have immediately agreed to include the long QT syndrome in their continuing medical education courses.

Karen makes a habit of carrying SADS' LQTS brochures in her car and handbag and drops off copies wherever she sees an open spot! She has taken them to Shaun's rehab center, the library, the schools, and all sorts of medical waiting rooms and lobbies. Karen has also gone to the media and is trying to get one of her local news stations to do a story on long QT. She thinks that soon one of the stations will do a story lest they continue to experience her "poking"! Great job, Karen!

Michelle Ward, Humble, Texas
Michelle's daughter, Tyler Raeh, was diagnosed with the long QT syndrome when she was 5 years old after having a cardiac arrest and then remaining in intensive care with abnormal heart rythms. For several days, Michelle and her husband, Jamie, had absolutely no idea why their healthy, active daughter was repeatedly arresting and "dying". Then, one of Tyler's doctors read about LQTS in Reader's Digest, diagnosed Tyler, and put her on medication. Tyler has since had the stellectomy surgery and is doing very well. She is a healthy, 7 year old who loves going to school, riding her bike and swimming.

After her daughter's experience, Michelle says that it would be "impossible" for her not to do everything within her power to educate her community about LQTS. She has spoken at three staff training sessions at her local hospital, to the school board several times and has conferenced with nearly everyone at her daughter's school. She has contacted the media and recently a story about Tyler Raeh ran in the Humble Observer listing the SADS number. SADS has received over 30 inquiries as a result of that story! Additionally, Michelle is hoping to be on the Houston NBC affiliate morning news program very soon. She gave them a SADS media kit and she says they seem "quite interested". She has gone to her local EMS to talk about LQTS and even her dentist has an LQTS brochure posted at his office. Thank you, Michelle and go, go, go!

An Awareness Superstar is someone who is effectively taking the SADS message to all avenues of public information. Our Superstars doggedly pursue the ideal that EVERY PERSON know the signs & symptoms of LQTS.

Amy Lawton Hamilton, New Zealand
"Amy Lawton was diagnosed with the long QT syndrome at the age of 13 after experiencing for nearly a year what appeared to be epileptic seizures. Amy is now treated with daily beta blocker medication and she also has a pacemaker. Her younger sister, Sandra-Kay, is borderline for long QT syndrome.

Before being diagnosed with LQTS, Amy was a keen athlete. She was often the victor in cross country long distance competitions. She was also very talented at gymnastics. Although feeling unhappy at not being able to do as well at sporting activities, Amy remains positive and never complains.

Amy is a warm, caring person with a desire to help others. With the help of her older sister, Natasha, Amy focuses on educating her many friends and teachers with outstanding projects on LQTS and how to be aware of its symptoms.

Amy is eager to have her story featured in a popular weekly magazine in the hope that this will educate more people.

‘My hope,' says Amy, ‘is to make as many people as I can aware of LQTS symptoms and if I can save just one life, it will have been all worth-while.'" Submitted by Amy's mom, Jennifer Lawton

Andrea Jones Guelph, Ontario, Canada
"Andrea is a vibrant fourteen year old who was diagnosed with LQTS in November 1995. She was revived twice after two near death episodes, once in a swimming pool and once in a very shallow lake. Since receiving her pacemaker and medication two years ago Andrea has enjoyed a normal carefree lifestyle. She won the Oral Communication Award with Guelph Optimist's Club two years ago for her speech ‘Listen to me!' which told how she owes her life to medical intervention and correct diagnosis of LQTS. Her success at public speaking resulted in her speaking on behalf of the Heart and Stroke Foundation of Ontario and heralding their Jump Rope for Heart campaign on local radio stations.

She wrote to the Heart & Stroke Foundation complaining of their promotion with a grandfather holding his granddaughter's hand with the caption: ‘He has a pacemaker...she has a Grandfather!' They responded immediately and when Andrea's grandfather visited from Wales, the H & S Foundation sent the pair off to the photographer! The new photograph and caption ‘She has a pacemaker...he has a granddaughter!' is soon to be printed in local newspapers with Andrea's story. The president of the organization praised her ability to change the public's awareness of pacemakers ‘not just being for old men!' More importantly, she is doing a super job of raising awareness about the long QT syndrome in our community." Submitted by Andrea's mom, Christine Bretherick

Jessee Anderson Benkelman, Nebraska
"Jessee Anderson is a 12 year old who plays the guitar. He started playing about 4 years ago. The first year he played, his dad and I thought we would go nuts, but then he started making music instead of noise. Now he can play just about anything- rock ‘n' roll to blues to country.

Jessee plays with a group of older fellows in their mid to late 40's. He humors them and plays their country songs and they humor him and play a little rock ‘n' roll and blues. They play for various community gatherings and parties.

Jessee was diagnosed with long QT when he was 8 years old. Three years before that, his twenty year old brother, Shane, died suddenly and without explanation.

Not being able to participate in competitive sports is a heart breaker for Jess, but instead of sitting around whining and feeling blue, he uses his talents and makes the strings of his guitar sing the blues. Jessee is our ‘blue ribbon' boy!" Submitted by Jessee's mom, Kayla Anderson

SADS BLUE RIBBON AWARDS: Is a child that you know with LQTS doing something exceptional? Did he win the school spelling bee? Was she victorious in her race for school president? Or is your kid just all-around great? If so, we want to give this super person a blue ribbon! Please send a brief description of what makes the child in your life a winner and a picture to the SADS office and we will include your champion in our next newsletter.




SADS SCIENTIFIC NEWS- Jervell & Lange-Nielsen Syndrome

Molecular basis of Jervell and Lange-Nielsen Syndrome: Long QT Syndrome Associated with Deafness
Igor Splawski, M.S., Eccles Institute of Human Genetics, University of Utah

In previous studies, our group mapped autosomal dominant LQT (Romano-Ward syndrome) loci to chromosomes 11 (LQT1), 7 (LQT2), and 3 (LQT3). A fourth locus (LQT4) was mapped to chromosome 4. We subsequently identified genes for the first three loci, KVLQT1, HERG and SCN5A. These genes encode cardiac ion channels, and support the hypothesis that LQT results from delayed repolarization of heart cells.

Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death.

In a recent study, we hypothesized that JLN results from mutations affecting both copies of a gene for autosomal dominant LQT. To test this hypothesis we studied a large family with a child who had Jervell and Lange-Nielsen syndrome. The female infant was born to a consanguineous marriage of second cousins. Soon after birth an electrocardiogram showed prolongation of the QT interval (QTc of 0.61 seconds) and at the age of four weeks profound deafness was diagnosed. The family members were not evaluated. Seven months after delivery of the child, at the sound of an alarm clock, her mother had a cardiac arrest and died. After the mother's death, the family was referred to our laboratory for genetic testing.

Electrocardiographic screening revealed that several family members had prolonged QTc intervals. Some family members reported a history of syncopal episodes but none had hearing deficits. Inspection of the pedigree showed autosomal dominant inheritance of the LQT phenotype. Using linkage analysis we determined that the LQT phenotype in this family was linked to KVLQT1, the gene causing LQT1. DNA samples from affected individuals were then screened for mutations in this gene. Mutation detection techniques, including DNA sequence analysis, revealed an insertion of a single nucleotide in the coding sequence of KVLQT1. The insertion causes a frameshift leading to the synthesis of an altered and shorter protein product.

All affected members of the family had one mutant and one normal copy of the gene and unaffected members had two normal copies. Both copies of the gene were mutant in the Jervell, Lange-Nielsen patient. Thus, the proband represents a case of a functional knockout of KVLQT1. The result is prolonged repolarization of heart cells, inhomogeneity of the repolarization, increased risk of torsade de pointes, arrhythmias and deafness. Consistent with our data, Neyroud and colleagues recently reported homozygous KVLQT1 mutation associated with Jervell and Lange-Nielsen syndrome in two kindreds.

Previous reports of the clinical characteristics of Jervell and Lange-Nielsen syndrome have focused on the dramatic features observed in the probands, which generally include marked prolongation of the QTc interval, frequent tachyarrhythmias and deafness. Some studies have documented moderate QTc prolongation in family members with normal hearing, but the Romano-Ward long QT syndrome was not diagnosed. The family described in this study came to our attention because the proband's mother died suddenly, presumably of a cardiac arrhythmia. Phenotypic evaluation of the extended family revealed autosomal dominant inheritance of long QT syndrome in other family members. Deafness, however, was only observed in the proband, a patient who harbored two copies of the KVLQT1 mutation. Thus, one feature of the Jervell and Lange-Nielsen syndrome phenotype (deafness) is inherited as an autosomal recessive trait. QTc prolongation, by contrast, is inherited as a dominant trait but the phenotype may be more severe if both alleles are mutant. It is important to note that parents (and possibly other family members) of Jervell and Lange-Nielsen syndrome patients are obligate carriers for long QT associated mutations and are at increased risk of arrhythmia. The untimely death of the proband's mother points to the importance of electrocardiographic and genetic screening of Jervell and Lange-Nielsen syndrome families.

RECENT LQTS JOURNAL ARTICLES
Drici MD, Burklow TR, Haridasse V, Glazer R, Woosley RL. Sex hormones prolong the QT interval and downregulate potassium channel expression in the rabbit heart. Circulation September 1996;94(6):1471-1474.

Roden DM, Lazzara R, Rosen M, Schartz PJ, Towbin J, Vincent GM, for the SADS Foundation Task Force on LQTS. Multiple mechanisms in the long QT syndrome: current knowledge, gaps, and future directions. Circulation Oct 1996;94(8):1996-2012.

Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 1997;15:186-9.

Lehmann MH, Timothy KW, Frankovich D, Fromm BS, Keating M, Locati BH, Taggart RT, Towbin JA, Moss AJ, Schwartz PJ, Vincent GM. Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome. JACC January 1997; 29(1):93-99.

Splawski I, Timothy K, Vincent GM, Atkinson D, Keating MT. Molecular basis of the long QT Syndrome associated with deafness. New England Journal of Medicine May 1997;336:1562-7. (See article above)

Viewpoint
Emily Elizabeth
written by her mother, Catherine Warren, on Emily’s 3rd birthday, May 7, 1997.

Three years ago, this night, my daughter Emily entered the world by an emergency delivery. She was extremely hydropic (swollen with fluid), required CPR, numerous defibrillations, and many drugs to keep her alive. I remember the neonatologist’s words so clearly: “We’re doing all that we can to keep her alive until a flight team can arrive to transport her to a larger hospital. Do you want your baby baptized?” No one gave Emily odds of surviving. Her heart was extremely sick and there were no clues as to why. She survived the 45 minute transport and earned the nickname ‘woman with an attitude’. But that first night of her life she arrested repeatedly and my husband was told that perhaps he should begin arrangements for her impending death, as she would probably not survive another arrest, and did he want the doctors to continue to shock her again and again? Prayer chains had begun all over the country for Emily and during that night, she arrested and was revived one more time. This was the beginning of Emily’s long struggle to survive.

Several days following her birth, the diagnosis was made: the long QT syndrome. She remained unstable for days. Our other two daughters, Alison and Margaret, then 11 and 8, were able to meet Emily only briefly, but I was determined that they should touch her and have a memory of her should she not survive. For the next seven weeks, Howard and I stayed at Emily’s side, through her slow recovery, pacemaker implantation, and beta-blockade therapy. We began to frequent the Medical School Library: What is a QRS complex? A “T” wave? Willing family and friends helped care for Emily’s sisters at home (2 ½ hours away), and we continued to try to learn as much as we could.

After seven weeks, the day finally arrived that we were to take our “newborn” home. Within 36 hours of our arrival home, Emily arrested again. I administered CPR until the paramedics arrived and she could be air transported to the hospital from which we had brought her just 36 hours earlier. She was to stay there for another 5 months in the ICU. We were beginning to see the enormity of what Emily was faced with. Howard needed to return to work and wanted to give our older girls some normalcy again in their lives. They had finished one school year, endured a summer of weekend trips to the hospital, accepted the Ronald McDonald House as a second home, and were about to begin a new school year with me still at little Emily’s side. They were strong and courageous and understood that had it been one of them so extremely ill, I would have been at their side, also. I decided the only way to cope with these arrangements and with the severity of Emily’s condition was to educate myself about long QT, understand as much as I could, and rely on my faith in God. This seems to be the same formula we use today, the difference being instead of an infant on death’s doorstep, we have a beautiful, inquisitive child of 3, who enjoys every single day to its fullest. Her disposition is happy every single day and she embraces each day with energy to spare! We have progressed from 24 hour monitoring (until the age of 15 months) to keeping a defibrillator with her at all times, and monitoring her only when she is asleep. She receives a most aggressive therapy to remain stable. Aside from her pacemaker, Emily requires very high doses of beta-blocker, antiarrhythmics (Mexiletine & Magnesium Sulfate), as well as an antiseizure drug for a separate seizure disorder. Her speech is very delayed and her attention span is probably like that of a gnat’s, but her sunny disposition and her ability to give and receive love are her greatest gifts.

As we watch Margaret’s soccer games and Alison’s tennis matches, I know that Emily will not become the competitive athlete that they are. Yet I know that her strong will can lead her to succeed in less athletic endeavors. For now, she loves to water her tiny vegetable garden and sample her harvest. Tuesdays are reserved for Toddler Time at the library, and Magical Mondays at the museum are special. She loves our traditional family camping trips-we just have to remember to pack an extension cord for her monitor!

Had Emily not been born in cardiac arrest which led to her diagnosis of Long QT, we might have brought home a seemingly healthy newborn, only to possibly lose her to supposed SIDS. So, in a very strange way, we are fortunate that Emily was so critically ill, and that the wonderful medical personnel who cared for her could diagnose and treat LQTS.

As we have just celebrated her 3rd year of life, we know that each day is a gift. For an infant who was never supposed to have survived, the only clue that gives her condition away is the defibrillator that goes everywhere she goes. We hope this can be eliminated one day and replaced with an AICD, but for now, we will just continue to celebrate each day and revel in the hope of tomorrow’s medical advances in the field of cardiac arrhythmias. Celebrate your loved one’s life or honor a loved one’s death by educating everyone you know and meet about the long QT syndrome.



SADS Foundation Networking This page is under construction. Please check back.



DRUGS TO AVOID IF YOU HAVE THE LONG QT SYNDROME

The drugs on the linked list prolong the QT interval and would be best avoided if you have the Long QT Syndrome. Discuss these drugs with your doctor if they are recommended by anyone.

Click here for a list of drugs to avoid.

Heart to Hearth is a publication of the SADS Foundation, a not-for-profit public charitable foundation. The newsletter is for general information only and is not intended to be used as medical advice, or for diagnoses or treatment. Readers are requested to seek the advice of their respective physicians.

If you appreciate the Heart to Hearth Newsletter, send your comments to Katie Roberts at the SADS Foundation. Indicate you saw the newsletter on the Internet. This will help us to know what medium to use to best contact people. If you are not on our mailing list to receive this and other information about the SADS Foundation and the Long QT syndrome, please call the Foundation on our 1-800-stop-sad toll free number and ask to be put on the mailing list. If the Internet seems to be the most effective means of communication let us know, and we will put more of our materials here.

Best wishes and good luck.