We Are the “Heart Twins”

Shared by Kristin Muraca, CHD Survivor and patient of Connecticut Children’s Adult Congenital Heart Program

14625487_10211130005074938_770223217_nIn anticipation of the New York Congenital Heart Walk this weekend, Kristin shares her story and that of her “heart twin” Jennifer, who together are raising awareness and funds for Adult Congenital Heart Defects.

Twins; neither identical nor fraternal, not born on the same day or to the same parents. Cardiac twins; single ventricles, Fontans, Pacemakers. Young children, born 3 months apart, with young parents, living in the same Connecticut town, and seeing the same doctors. Their pediatric cardiologists introduced their moms to each other – fostering an early CHD connection. Not yet aware of their special bond, Kristin moved one small town over from Jennifer, their mothers lost touch, and their lives moved in different directions.

Fontan, pacemaker, Blalock-Taussig shunt, thoracotomy, liver cirrhosis. Pulmonary stenosis, atrial septal defect, cardioversion, accelerated junctional rhythm, Heterotaxy syndrome, dextrocardia, atrial fibrillation, heart failure all faced by Kristin and Jen long before last years’ Congenital Heart Walk (The excitement from which may or may NOT have caused Jennifer’s fluttering this past summer.) Their medical and surgical stories running parallel but never crossing for over 30 years until Kristin needed an endoscopy to screen for possible complications of her newly diagnosed cardiac induced liver cirrhosis.

When she woke up from the procedure, there was Jen standing by her side.
Jen had been told that she may be seeing adults with CHD come to her unit for endoscopies. Doctors were starting to see ties between the Fontan Procedure and cardiac induced liver cirrhosis and knowing Jen had an almost identical surgical history, her colleagues picked her brain for insight. They assigned Jennifer as the nurse in charge of Kristin’s recovery. When Kristin opened her eyes that morning, Jennifer was taking her blood pressure. It was a set-up. Even in her 15 year nursing career, Jennifer had only cared for one other patient with a single ventricle. There was an instant connection, and inherent desire to get to know each other better.

14694768_10211130004794931_229615300_nThere have been years where they both could pretend they were “normal.” Their parents treated them that way. Neither was raised to feel self-conscious or less capable. They were surrounded by a community of support. Friends sometimes thought Jen’s blue lips were a fashion statement. Jennifer had her Blalock in 2nd grade and a giant paper bag filled with cards from her classmates was waiting for her when she got home. Kristin, whose 4th grade teacher was a former nurse, did her best to explain the Fontan surgery to classmates and other faculty. In turn, most kids were quite protective of Kristin, and as she got older, she would return the favor. Jennifer had her drivers’ license for 2 months before her Fontan surgery. She drove everywhere except to the hospital for surgery, knowing recovery from open-heart surgery would prevent her from going behind the wheel for several months

Kristin and Jennifer spent their entire lives making regular visits to the same pediatric cardiology office. When Connecticut Children’s Medical Center opened in 1996, the young ladies were 22 years old. Despite being adults, the young ladies continued to be followed by the pediatric group. However, they had “out-aged” the hospital, as at that time Connecticut Children’s could not admit patients over age 18. These women were incredibly fortunate though. Their doctors had been preparing for Kristin and Jennifer’s adulthood for a lifetime by planning for an Adult CHD clinic.

Four years ago, the pediatric practice created a continuity of care for Jennifer and Kristin and all of their patients surviving into adulthood. Their pediatric cardiologists Dr. Felice Heller & Dr. Shailendra Upadhyay became accredited Adult Congenital Specialists, and Connecticut Children’s began admitting adult patients with congenital defects. The “Heart Twins” epitomize the importance of appropriate life-long care with suitable and accredited doctors in hospitals that can manage their medical requirements.

These women were able to tackle the real questions of maturity with greater insight. As a child, Jennifer received a strict warning, “Never ever pick up a cigarette! It will kill you.” Or “I could never tell a woman not to have a child, but I’d hate to see all of our hard work go to waste.” She met her husband in high school; they went to the prom together. Her scars and memories of her with blue lips made her feel self-conscious but he wasn’t deterred. They adopted two beautiful children. She often reminds her daughters, “If it weren’t for my heart, we wouldn’t be a family.”

“CHD made me the mature one in my group of friends. It was seltzer for me at every party and I would make sure everyone got home safe” says Kristin. There was the heartbreak in hearing her doctors’ emphatic warnings against becoming pregnant. “It’s like anything else, you freak out for a moment, ask yourself ‘what am I gonna do?’ and live your life.” Kristin embraces other kids as her own giving her an enormous love-filled family.

14694615_10211130014315169_415384426_n“On the day that I was born, the doctors told my 20-year old mom to take me home and love me. How did she do it?” Kristin came to understand that every scar told a story and a possibly grim prognosis is not a sentence. Her parents and family and friends helped her see that. Jennifer empathically understood that. It’s the legacy these women are creating. Spreading and urging awareness. Awareness of congenital heart defects, awareness of our relationship to our own health and the importance of life-long care. Awareness of connecting with one another and knowing that “The Time to Be Happy Is Now.”

You often hear about that weird “twin thing.” The ability twins have to intuitively sense one another. It’s not so different from the CHD community we’re building here. Join The Heart Twins and Team CT CHD at the NYC Congenital Heart Walk on Sunday October 23rd.

Learn more at http://events.congenitalheartwalk.org/site/TR/Walk/General?pg=team&fr_id=1514&team_id=12972

Why I Run

Written by Kim Karr

i-am-running-forThis Saturday, October 8, I will run the 5k portion of the EverSource Hartford Marathon on behalf of Connecticut Children’s Medical Center.

You all know what Connecticut Children’s means to our family, and you are aware of the fact that we have spent a considerable amount of time there with Emily since her diagnosis of Crohn’s Disease twelve years ago. She was nine years old at diagnosis and required emergency surgery and life support of TPN for nearly three weeks. She was there again at seventeen years old to treat more complications of this vicious disease. And then last year she was there again for nearly an entire month … she had two emergency surgeries, the last of which resulted in an ostomy, which she lives with still.

I am very familiar with Connecticut Children’s. I spent almost every night there with Emily, except when Marko would relieve me for a day to spend time with our sons and rest in our own bed. I am so familiar with the stinging smell of hand sanitizer, the squeaky plastic bed, the constant beep beep beep of pulse-ox monitors up and down the hallways. It’s all so familiar that I’ve almost stopped registering the details. It had become white noise. I vaguely remember the 1:00am slipper shuffle, down the hallway and into the “family kitchen” to fix some herbal tea, hoping for maybe even an hour of resulting sleep. Sometimes I would come upon another worn and worried parent who was hoping to do the same. Our shared, tired half-smiles conveyed so much more than words ever could. It’s a blur now.

What has never blurred though, is the memory of the time, the care, and the attention that Emily received while she was there. Whether it was from the top-notch doctors and nurses who saw to her every need, or the child life specialists who made sure that she had access to what made her happy – art, books, movies… Emily and every other child at Connecticut Children’s was, and IS treated like a kid who is going through a bad time … but is still a kid. A kid who is still whole. A kid who is still special.

Please click on this link http://www.youtube.com/watch?v=CbAFjZ-4ACU&sns=em because I want you to see more about Connecticut Children’s Medical Center.

And then, if you can, please click on this link https://www.crowdrise.com/team-ct-childrens-EversourceHartfordMarathon2016/fundraiser/kimkaar to support my fundraising efforts for this amazing hospital. The Connecticut Children’s Medical Center Foundation helps make everything that I just described available to all children and families who need it. Fundraising and raising awareness for Type 1 Diabetes and Crohn’s Disease are front and center in my world … but fundraising for Connecticut Children’s helps me to reach all areas of pediatric disease. I am so grateful for your help.

Lastly, if you cannot donate at this time, I understand. I’ve been there. I would like to ask you to please keep these kids and families in your prayers though. I believe that it does make a difference. Thank you.

Wish me luck! It’s a long-range forecast but they’re predicting rain. That’s okay. I won’t melt. I haven’t yet🙂

World’s Top Researcher on Rare, Genetic Liver Disease Coming to Connecticut

In honor of Glycogen Storage Disease Awareness Week, Connecticut Children’s Medical Center and UCONN School of Medicine are excited to announce the appointment of Dr. David Weinstein, who will be bringing his world renowned Glycogen Storage Disease progam to Connecticut in early 2017.


Pediatric endocrinologist Dr. David Weinstein. (Janine Gelineau/UConn Health Photo)

Leading pediatric endocrinologist and scientist, Dr. David A. Weinstein and his world-renowned Glycogen Storage Disease (GSD) Program is moving to Connecticut’s UConn School of Medicine and Connecticut Children’s Medical Center in early 2017.

Weinstein’s GSD Program, currently based at the University of Florida, is the largest clinical and research program of its kind in the world. Pediatric and adult patients living with the rare, genetic liver disease travel from across the globe for his team’s expert care, a number which totals more than 500 patients from 49 states and 45 countries.

He will serve as professor in the Department of Pediatrics at UConn School of Medicine and director of the GSD Program, a joint venture of UConn Health and Connecticut Children’s. UConn Health will be home to the GSD program’s research laboratories while the multidisciplinary team will provide comprehensive clinical care at Connecticut Children’s.

“Our team is very excited to be bringing the GSD program to Connecticut at UConn School of Medicine and Connecticut Children’s Medical Center,” said Weinstein. “This is a wonderful opportunity for the GSD community, our program and our institutions.”

Weinstein and his team are on the verge of testing in clinical trial the first gene therapy for GSD, developed in conjunction with Dimension Therapeutics of Cambridge, Mass. Testing of the gene therapy has shown great effectiveness in improving the health and life expectancy of canines born with the disease.

“UConn and Connecticut Children’s is the best place to house our GSD program and launch our clinical trial research,” said Weinstein. “I am very thankful to UConn and Connecticut Children’s for thinking outside the box and their dedication to making this dream a reality. Our team looks forward to working with these outstanding institutions to find better treatments and a cure for the devastating disease of GSD.”

GSD is a rare genetic childhood disorder with various forms (types 0, Ia, Ib, III, VI, IX, and XI) that impact the liver’s storage and release of sugar. It affects one out of every 100,000 people. Healthy livers store excess sugar from food for our body’s future energy needs and release it into our bloodstream when we need it as processed sugar enzymes known as glycogen. However, in GSD, the liver fails to breakdown glycogen into glucose causing the body’s blood sugar levels to drop dangerously low leading to seizure or potentially death, unless there is constant intake of glucose.

The condition was almost always fatal until 1971 when it was discovered that continuous glucose therapy could help these patients. Cornstarch therapy was introduced as a slow release form of glucose in 1982, and it allowed feeds to be spaced to every 3 – 4 hours. Thanks to cornstarch a greater number of patients with GSD are now surviving into adulthood. However, nearly 35 years later cornstarch is the only approved treatment available.

GSD patients are high risk for other health conditions because their bodies try to compensate for the liver’s dysfunction and find alternative energy sources. The harmful complications may include: kidney stones and failure, anemia, cardiovascular disease, elevated triglycerides, high cholesterol, liver tumors (both benign and cancerous), osteoporosis and inflammatory bowel disease.

“Finding a cure as soon as possible for GSD and a way to prevent its complications is critical,” said Dr. Juan C. Salazar, chair and professor of the Department of Pediatrics at UConn School of Medicine and physician-in-chief at Connecticut Children’s. “While the consumption of cornstarch every few hours is a lifesaving treatment for GSD patients, if one dose is missed it can be quite damaging and deadly. This potential burden is too great for any parent to stomach. We look forward to Dr. Weinstein and his team’s steadfast work to further advancing care and research for GSD children and finding a cure.”

“It is simply incredible that Dr. Weinstein and eight other members of his GSD program’s team are moving to Connecticut,” says Bruce T. Liang, dean of UConn School of Medicine. “It symbolizes their true commitment, selflessness and dedication – which mirrors ours– to GSD patients and stopping at nothing to find promising new treatments.”

Members of Weinstein’s prestigious GSD program planning to join him in Connecticut include: Youngmok Lee, Ph.D., the program’s basic science coordinator; Monika Dambska, MD, the clinical-research coordinator; Ana Estrella, MD, the laboratory coordinator; Kathy Ross, RD, LDN, the dietician; and the four registered nurses Gail Butler, Iris Ferrecchia, Betsy Potocik and Emma Labrador.

“Our goal is to very soon finally find a cure for GSD and its complications,” adds Weinstein. “The strong synergies and collaborative team science happening at UConn and Connecticut Children’s is world class and the most fertile ground to make a GSD cure reality.”

“It is good to be back in Connecticut,” shared Weinstein who attended college in the state and has cared for many patients here, especially in the West Hartford community. “For the last 20 years the Connecticut community has really been supportive of my ongoing GSD clinical research work,” said Weinstein.

Weinstein graduated from Connecticut’s Trinity College and earned his medical degree at Harvard Medical School. At Boston Children’s Hospital he completed his residency, chief residency, and fellowship in pediatric endocrinology and completed his masters in clinical investigation at Harvard and MIT. He became the director of the GSD program at Boston Children’s before moving to Florida in 2005 to pursue gene therapy on dogs with naturally occurring GSD.

Prior to joining UConn Health, Weinstein served as professor of the Division of Pediatric Endocrinology at the University of Florida and director of its GSD Program. As a physician-scientist he has authored over 80 articles and 26 textbook chapters on GSD. He is the recipient of the prestigious international humanitarian award, the Order of the Smile, for helping children around the world with GSD, a recognition shared with Pope John Paul II, Mother Teresa, Nelson Mandela, and Pope Francis. Weinstein was named one of the inaugural Goldwater Scholars in 1989. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he received the George Sacher Award from the Gerontological Society of America. Weinstein was inducted into the Rare Disease Research Hall of Fame in 2013.

In addition to local GSD community outreach, Weinstein’s team partners internationally with institutions and scientists in Argentina, Brazil, Canada, China, Faroe Islands, Israel, Mexico, and the Netherlands.

“Dr. Weinstein’s recruitment to UConn and Connecticut Children’s is yet another example of the strong ties between the two institutions, and more importantly our commitment to providing state of the art clinical care and promoting innovative research that benefits children and adults,” said Jim Shmerling, president and CEO of Connecticut Children’s.

Sugar! Tasty Trouble?

Pat Esposito MS RD CD-N CNSC/Clinical Nutrition Manager at Connecticut Children’s

September is National Childhood Obesity Awareness Month and provides an opportunity for learning about ways to prevent and address this serious health concern. Pat Esposito, Clinical Nutrition Manager at Connecticut Children’s shares expert advice and asnwers your questions on sugar.

esposito_blog-postGuidelines for healthy eating are always changing….so what is a parent to do? The latest update from the American Heart Association suggests that sugar be limited to 6 teaspoons per day for both children and teens. But just how much is a teaspoon and how can you keep track of it? At times, you’d wish there was a mobile app to help! There are lots of questions, but the good news is, most of this all boils down to common sense.

Introducing children to new foods when they are young will build eating habits to last a lifetime so starting off right means getting them to eat vegetables, healthy sources of protein, and other food items that provide enough vitamins and minerals! But what about other foods?? A cupcake here, a cookie there…..are the ‘extras’ really that bad?

Let’s take into consideration that avoiding soda is now part of a new recommendation by AHA which states that children older than 2 years of age should have no more than 8 ounces of soda a week and children under 2 years of age should have none at all. But how do you say NO once your little one has had the taste of grandpa’s favorite soda?

You may be asking if just a sip of soda is really that bad…what if it’s just one time? The answer is yes! Sugary foods and beverages provide no nutrients whatsoever and when you child eats or drinks those items he or she is less likely to eat other vitamin and nutrient rich foods. So it is very important you wait until a child is older before introducing soda. Remember, limiting soda intake is a great first step in cutting down sugar intake!!

• Add a splash of unsweetened orange juice to a seltzer for older kids who want the FIZZ!
• Opt for water or milk for younger children…..don’t let them taste those sodas!!
• Limit sweet candy, cookies and cakes that have added sugar, fructose and honey!!
• Opt for fresh fruits for that healthy sweet and refreshing summer flavor!!


Lucas’s Story

By Jennifer, Lucas’s Mom

Lucas_MomentI call my son Lucas my little superhero. He is good natured, sweet, smart and the most loving boy you will ever meet. Lucas was diagnosed last year with Common Variable Immune Deficiency in the fall of 2015 after spending the first 18 months of his life sick with one infection or another.

Through every illness, no matter how high the fever was, Lucas was always being his chipper, happy go lucky little self. I spent a lot of time speaking to doctors, telling them there was something that wasn’t right about a child having the flu at 10 weeks old and getting sick several times a month. It was after his very last upper respiratory infection, that I was referred to Connecticut Children’s Medical Center.

In October of 2015, we were fortunate to be linked to Dr. Bennett and the Department of Infectious Diseases and Immunology at Connecticut Children’s. From that moment on, we knew we were in good hands. Lucas was later diagnosed with an immune deficiency and now receives Immunoglobulin infusions every three weeks to help strengthen his immune system.

kelly and lucasInfusion days are tough days for us as a family, however we are so grateful not only to have the support of Dr. Bennett, we are so grateful to have Kelly, from the Child Life Department, always available to give Lucas a little extra support. Lucas loves Kelly and asks for her every time we are in the hospital (He has even told me, “Mommy I want Kelly, Kelly pretty”).  We have found the role of Child Life to be vital during infusions, making the day just a little easier for us and for Lucas. Since this journey started at Connecticut Children’s, we have had so many supportive and amazing staff (Doctors, Nurses, Child Life) constantly by our side, helping him feel just a little better.

Lucas is my little superman, the sweetest and strongest little one around. He is braver than we could’ve ever asked for. My husband and I are so proud of who he is and look forward to watching him grow. Even during infusions, you can likely find Lucas giggling, dancing to Spanish music and being his happy-go-lucky little self. Connecticut Children’s Medical Center has been a blessing to our family and we are so thankful to have the hospital in our lives while Lucas gets better.

To share your #CTChildrensMoment with us for a chance to be featured, please visit http://www.connecticutchildrens.org/patients-and-families/share-your-story/. 

Hyundai Brings Hope to the Sunflower Kids

In honor of Pediatric Cancer Awareness Month, Dr. Kerry Moss of the Center for Cancer and Blood Disorders  shares her speech from our Hyundai Hope on Wheels event this past summer. Hyundai awarded Connecticut Children’s a $50,000 IMPACT grant in support of our pediatric cancer research.

Good morning distinguished guests from the Hyundai Hope on Wheels Foundation, Dr. Jim Shmerling and of course Genevieve, her family and all the other children with us today.

IMG_8970I would like to begin by painting a quick picture for each of you…Imagine a place that when you enter its doors there are red ruby slippers and a picture of a yellow brick road.  There is a large aquarium and an interactive wall that allows butterflies to land on you…and on any given day the melodies of “Let it go”…or “Everything is Awesome” bellowing in the halls are only overshadowed by laughter.

On the wall is not only an inspirational quote, but if you will, a mantra for pediatric oncology patients. Well stated by Christopher Robbins to his dear friend Winnie the Pooh, it reads:  “Promise me you will always remember that you’re braver than you believe, stronger than you seem and smarter than you think.” If you have not yet guessed, I am describing our Center For Cancer and Blood Disorders on the 5th floor right inside this building.

I am always telling people that I have the best job in the world.  Each day I go to work, I am surrounded by the most amazing children…and furthermore the most dedicated and compassionate staff.  And while I fully acknowledge that the work we do is humbling, I am so proud of the field of medicine that I chose to enter.  Today, we happily boast that over 80% of children diagnosed with cancer will be cured of their disease.

hyundai hope check croppedEven I as I speak, there are dedicated scientists and researchers both at our institution and around the country working to develop new therapeutic agents and targeted treatments with the goal of finding a cure for all children.  Until that number is reached, the care we provide to the children that will not likely beat their illness is quite possibly the most important care we deliver.

The treatment of these children includes not only advanced cancer care therapeutic options, but the management of their pain and alleviation of their symptoms is of paramount importance as well.

It is in no small thanks to your kindness that this work can be done.

The name of our program, the sunflower kids, hails from the simple fact that the sunflower is known to be the most resilient flower. It can grow in the toughest of soil.  Much like sunflowers, our amazing patients and their families flourish in the face of adversity.  Whether our goal is cure or comfort, it is thanks to Hyundai that the work of this program will continue to grow and weather whatever tough soil might be ahead.

IMG_8959They often say that it is the little things that matter the most. On behalf of all of the little things…and the littlest people…I thank each and every one of you for being here today to support the work that we are doing.

Margaret Mead once said, “Never doubt that a small group of thoughtful, committed citizens can change the world.  Indeed it is the only thing that ever has.”

On behalf of Connecticut Children’s Medical Center for Cancer and Blood Disorders, our advanced cancer care team and the Sunflower Kids Program, I thank the Hyundai Hope on Wheels Foundation for this dubious honor and for your role in changing the world for countless children and adolescents in their arduous fight against cancer.



Setting The Facts Straight When It Comes to Vaccines

Dr. Melissa Held of Connecticut Children’s Division of Infectious Diseases and Immunology, was recently featured in the Town Times for her response to a ‘Letter to the Editor’ titled, “Just Say NO to Vaccines,” written by retired physician and self-described conspiracy theorist, Susan McIntosh. Today, we break down Dr. Held’s response to help separate fact from fiction when it comes to vaccines and the important role they play in your child’s health.

Tell us a little bit about yourself.
I trained in medicine and pediatrics at Cornell and Yale University and practice as a board-certified pediatric infectious disease specialist at the Connecticut Children’s Medical Center. I am also an Associate Professor of Pediatrics and the Assistant Dean of Medical Education there. I have dedicated my life and career to the health and well-being of children and in the treatment and prevention of infectious diseases – including vaccine-preventable illnesses. Importantly, I strongly believe in evidence-based and rigorously studied clinical practice.

How did the myth concerning vaccines and any sort of link to autism come about?
The “evidence” behind this proposed association came from a study by Wakefield et al. in 1998 that made a link between the thimerosol-containing Measles, Mumps, and Rubella (MMR) vaccine and autism. However, the study was subsequently discredited and the author found to be guilty of research fraud, unethical treatment of children, and multiple conflicts of interest. The publisher retracted the paper and the author lost his medical license. Dr. McIntosh might consider this evidence of yet another conspiracy theory and she is welcome to her opinion. However, I believe the scientific evidence speaks for itself.

Is there research that suggests there is no connection between the two?
Yes! In fact, multiple high quality research studies have found NO LINK between the MMR vaccine and autism. The Centers for Disease Control (CDC), the World Health Organization (WHO), the American Academy of Pediatrics, and multiple other professional societies all substantiate these findings. Additionally, no other vaccine ingredients have been found to be harmful or cause autism. In 2011, an Institute of Medicine (IOM) report on eight vaccines given to children and adults found that with very rare exceptions, vaccines are very safe. Vaccine manufacturers and regulatory agencies make sure that vaccines are produced in a way that is both safe and effective or they do not make it to market.

Is it true measles is one of the most contagious infectious diseases; however very much preventable with the use of vaccines?
Yes, Measles is one of the most contagious infectious diseases known; it is actually far more contagious than Ebola. Complications from measles are most common in young children and older adults and can cause significant disability or death even in previously healthy individuals. One of every 1000 people with measles will develop acute encephalitis (swelling of the brain) which can result in permanent brain damage. One or two of every 1000 children infected with measles will die from respiratory or neurologic complications. There are also rare but potential long-term or fatal central nervous system degenerative diseases that can result from measles infection. The WHO estimates there were 145,700 deaths globally from measles in 2013. Thankfully, the efficacy of the measles vaccine in preventing illness is actually 97% after only two doses. Although the protection offered by vaccines is lower than that following natural disease, both serologic (blood) and epidemiologic evidence has shown that most people have long-term and probably lifelong immunity after vaccination.

Any last thoughts concerning vaccines?
I’d just like to reiterate that there is no scientific evidence that multiple vaccines overwhelm a child’s immune system and the recommended vaccine administration schedule is specifically designed for vaccines to be as effective as possible. However, if you do have questions about the safety and efficacy of vaccines, please seek out reputable, evidence-based resources such as those from the CDC, AAP and WHO and discuss those concerns with your child’s pediatrician.