A Different Normal

By Jennifer Burrell

Jennifer Burell is the mother of 7 year old twins, both of whom are affected by Ectodermal Dysplasia/Hay-wells Syndrome. Jennifer lives in Southern California and is currently a stay at home mom.

I am the mother of boy/girl twins who both were diagnosed shortly after birth with a rare and lifelong medical condition. It’s a form of ectodermal dysplasia called Hay-Wells syndrome. Hay-Wells syndrome is a genetic condition that affects the fetal development of many different parts of the ectoderm such as skin, hair, teeth, fingernails, sweat glands, and tear glands.

Having children with a rare condition such as this has been the single most enlightening, life changing, and educational experience I have ever had.  And I mean that in a very positive way. The first and most important thing parents of children with genetic conditions need to understand is that this is not your fault. There is nothing you did or didn’t do that caused or would have prevented this.

The next thing that is important to understand is that, with support, education, and collaborative medical care, this is a very manageable condition. My children are the absolute joy of my life. They are happy, active, and beautiful children.  There is nothing about Hay-Wells syndrome that affects their cognitive abilities.  They are in regular public school and thriving there. They have lots of friends.  They ice skate, play piano, and do most all of the things that their friends do.

One of the things I did when they started school was to give the teacher a handout about Hay-Wells syndrome and about how my kids are affected. It talked about “how they are the same” and in what ways they are a “little different” and need to be careful. I gave the teacher a stack of these handouts and asked her to please give them out to the class to take home to their parents.  I received very positive feedback from this. Parents were educated and able to talk to their kids and answer questions about the “condition” in a positive and upbeat manner. We have not had a single issue of teasing or bullying and I believe that the handout played a big role in that. In general, I have come to realize that humans are uncomfortable with what they do not understand, and often times deal with their discomfort in inappropriate ways. Educating people is the key.

The National Foundation for Ectodermal Dysplasias helped me to understand that a medical condition such as this is not a life sentence. It’s an enlightening experience. I know my children will grow up to be happy, fully independent, and productive members of society, and isn’t that what we all want most for our children? I look around me in my daily life and realize that there are a lot of human beings in this world who are much worse off than my kids, and they don’t even have a medical condition. We all have limitations in life; some are just a bit more obvious than others.

This whole experience has taught me so much about acceptance, being truly grateful for what we have, being non-judgmental of others, and really knowing what it is really important in life and not sweating the small stuff. I wouldn’t trade them, or all I’ve learned from them, for anything in the world. When my kids were just babies and my husband and I were struggling with their condition and learning about it and how to manage it, I admit that I felt a bit sorry for myself and depressed about all we were going through. My mom gave me a beautiful saying that I have kept with me ever since.  “I was sad because I had no shoes, until I met a man who had no feet.” If this is the worst thing we have to deal with, then we are truly blessed.

This blog is featured as a part of Ectodermal Dysplasias Awareness Month, which is celebrated in June. For more information, visit the National Foundation for Ectodermal Dysplasias’ Web site at http://www.nfed.org.

By Myrl Weinberg, FASAE, CAE

As any family caregiver knows, preplanning is a path to sanity. If you aren’t prepared for the possible, your life can quickly become chaotic. Like family caregivers, the patient advocacy community has been preparing for months for today’s Supreme Court decision. We knew that whatever the outcome, we would have to be ready to take decisive action to ensure that people with chronic diseases and disabilities get the health care they need.

Now that the Supreme Court has upheld the Affordable Care Act, it is time to move on. Here is the statement that the National Health Council released following the Court’s decision.

“We have felt confident throughout that the Affordable Care Act is constitutional. The patient advocacy community is very pleased with the Supreme Court and its decision to uphold the law. It is now time to put the acrimonious debate behind us and move forward to continue working through the implementation process to produce a health care delivery system that meets the needs of all people – especially those individuals with chronic diseases and disabilities. The National Health Council worked closely with Members of Congress from both sides of the aisle to ensure that the concerns of the patient and family caregiver community were addressed in the Affordable Care Act. We believe the law, though not perfect and certain to evolve over time, is already improving the lives of people with chronic conditions. Let’s move on.”

To read what other patient organizations are saying about the Supreme Court decision, visit http://www.puttingpatientsfirst.net/ACAdecision . Here are a few of the comments from the National Health Council’s members:

“The historic decision handed down today will benefit America’s heart health for decades to come. Questions about the Affordable Care Act’s constitutionality have overshadowed the law’s progress. With this ruling, that uncertainty has finally been put to rest.” – American Heart Association

“Today, cancer survivors throughout the U.S. are celebrating. The Supreme Court ruling means they will retain protection from insurance discrimination for pre-existing conditions.” – Lance Armstrong Foundation

“We are pleased that the Supreme Court has upheld the Affordable Care Act. Through the ACA, kidney patients will have access to insurance options and care that will improve the quality of their lives.” – American Kidney Fund

“Health insurance coverage is essential to leading a healthy life, and our nation’s highest Court has affirmed the validity of the Affordable Care Act, allowing implementation to continue in a way that will benefit patients with chronic diseases, like diabetes.” – American Diabetes Association

“As psoriasis and psoriatic arthritis often occur with other serious conditions, such as heart disease or diabetes, it is equally important that these patients will now be able to maintain access to coverage for continuous care.” – National Psoriasis Foundation

“The ruling also preserves vital provisions that are already improving the ability of people with cancer and their families to access needed care by ensuring that proven preventive services such as mammograms and colonoscopies are offered at no cost to patients, eliminating arbitrary dollar limits on coverage that can suddenly terminate care and prohibiting insurance companies from unfairly revoking coverage when a person gets sick.” – American Cancer Society/Cancer Action Network

Myrl Weinberg is president of the National Health Council (NHC), the only organization of its kind that brings together all segments of the health care community to provide a united voice for the more than 133 million people with chronic diseases and disabilities and their family caregivers. The NHC is made up of more than 100 national health-related organizations.

By Crystal Mata

Crystal Mata is currently studying Music Business and Drama at Houston Community College. She has her Bachelor’s Degree in Professional Music from Berklee College of Music. Crystal is affected by Hypohydrotic Ectodermal Dysplasia. She has been an active member of National Foundation for Ectodermal Dysplasias (NFED) for the past 14 years. She lives in Houston, Texas, where she both performs and teaches music.

When I was asked to write this blog, I jumped out of my seat in excitement. It’s such a privilege to share even a piece of my experience with so many others. I am affected by ectodermal dysplasia. I don’t sweat, I have lots of dental problems and jaw issues, and I also have thick fingernails. My hair is short and sparse and I have limited hearing loss.

It soon dawned on me, though, that I had no idea where to start. Who better to ask than my family – the people that have stood by my side as I live with my chronic condition?

So, as we drove to dinner one Friday night, I pushed record on my tape recorder and asked one simple question:

How has ectodermal dysplasia affected your life?

“I don’t think that ectodermal dysplasia ruled our lives. We ruled it.” This being one of the most profound things I’ve ever heard my mom say. Growing up wasn’t easy and during those hard times mama bear was always there for her baby cub. “I don’t think we treated you any differently and I don’t think that we raised you any differently than Angelica and Matthew,” she says.

My siblings were affected by my condition a lot more than most people would think. They were often the ones hugging me or defending me in front of strangers and bullies. “I didn’t have to go through what you went through,” says Matthew. My brother is still always good at turning my frowns into smiles. Unable to say much of anything else, my father responded, “It’s made you more sensitive to other people who are different.” Matthew agreed: “What he said.” Even at 23, he is a man of very few words.

My father sat in the front seat thinking hard about what to say next. When he finally started talking he didn’t stop for the next 7 minutes. “My goal was to make sure you knew you can still do anything you want. There is nothing holding you back from being the person you want to be. People are gonna make fun of you no matter what’s different. I wanted you to be strong enough to handle criticism.” But it wasn’t until he said, “Not everybody is given something like that [ectodermal dysplasia] and can handle it,” that he reminded me of the very first moment I came to accept who I am and how ectodermal dysplasia was just a part of me. It sounds nerdy, but I was reading ‘Spiderman’ and stumbled across this line, “With great power, comes great responsibility. This is my gift, my curse.” And just like that, it made all the sense in the world. It is my gift and my curse. Suddenly I was a superhero. And who doesn’t want to be a superhero?

“We wanted to be in control. We didn’t want it to control our lives.” When mom finished giving her two cents I reached around to give her a hug. Remembering the hardest moments of my childhood reminded me why I can handle the hardest moments of adulthood. Believing, being strong and aware, those are all our gifts and curses. And having a genetic mutation—that, my friends, is where our super power lies – in the deepest places in our souls, the darkest places of our minds and in the brightest places of our hearts.

By Sona Mehring

Devices like notebooks and iPads, and, of course, desktop computers are everywhere in our lives. If you’re dealing with a chronic condition, technology provides a way to receive the care and support you need, even if you often find it difficult to ask for assistance.

I’m not talking about the cold, impersonal interactions often associated with online communication. I’m talking about using technology to create a space where people can connect and volunteer to help you with tasks, such as:

• Bringing a nutritious meal
• Grocery shopping
• Offering a ride to the doctor
• Helping with laundry

Fifteen years ago, I used technology to create a space where my friend could receive the support she needed during a difficult time. It instantly became a connection point that allowed family members to communicate information to a wide circle of people, bringing a supportive community together.

It’s important to realize your community is eager to help you. “Can I mow your lawn?” “Do you need someone to watch the kids?” All asked out of a desire to care for you. Now you just need to get organized. The variety of online calendars available now makes it easy for friends and family to coordinate everyday tasks. It’s a way people can use technology to care for each other.

Karin Gelschus, a CaringBridge staff member and WebMD blogger, said in her post 10 Things Lupus Will Never Take from Me: Part 1, “Regardless of the type of diagnosis, your world is forever changed.”  One thing that doesn’t have to change is using technology to simplify your daily life.

What ways have you used technology to make tasks easier? When you ask others for help, what type of tasks do you ask for help with? Leave your comment!

You can also check out an online calendar we recently created at CaringBridge.

Sona Mehring is the founder and CEO of CaringBridge, a nonprofit offering many ways for people to care for each other during any type of health event. CaringBridge offers personal Sites, a SupportPlanner and an online volunteer community, the Amplifier Hub. Follow Sona on Twitter – @gogosona.

By Tina Moss

Tina Moss is a social worker, wife, and mother. She lives in Southern California with her husband. Their son is affected by ectodermal dysplasia and is a junior in college. Tina’s family has been active in the National Foundation for Ectodermal Dysplasias since 1992, volunteering as writers and fundraisers.

I’m staring at a picture of my son taken when he was about two years old. The sun shining through the nimbus of sparse blond hair on his head and the sweet smile on his lips give his face a cherubic look. His arms are raised in the air and he appears to be dancing. He’s my perfect, happy, dancing boy. That boy turned 21 a week ago, and while he’s lost his angelic look he retains the joyous spirit of the young boy in the picture.

That picture did not tell the whole story, though. Our son was diagnosed with hypohidrotic ectodermal dysplasia (HED) when he was 18 months old. In addition to his sparse hair, he lacked the ability to sweat, was missing teeth, and the ones he did have were misshapen and conical. He suffered from severe eczema, had allergies that caused his eyes to become red and puffy, and was frequently ill with sinus infections. The outward manifestations of this rare genetic condition often caused strangers to stare and on occasion ask intrusive questions. They wanted to know what was wrong with him or if he had cancer. I’m sad to say I never found a truly graceful way of responding.

I was angered by the attention our son’s appearance garnered and sad that as he grew he would probably have to endure the confusion, curiosity, or, worst of all, teasing his different appearance might inspire. I worried obsessively about how he would handle these things and how his father and I could help him successfully and happily navigate his way through life.

Shortly after our son was diagnosed we learned about an organization called the National Foundation for Ectodermal Dysplasias (NFED). We attended their annual Family Conference that happened to be taking place near our home in Los Angeles that year. I felt my worldview shift the minute I walked into the conference. Everywhere I turned I saw children who looked like my own child, so much so that they all could have been related. Same hair, facial features, teeth. Even their body types, thin and lanky, were similar. My skin tingled, my face grew hot, and I began to cry. For the first time as mother I felt like I belonged to a community.

On the second day of the conference, while our son was in daycare, my husband and I attended seminars on skincare, dental concerns, and social and emotional issues related to ectodermal dysplasias. We met other families and swapped stories about our experiences as parents of children who look different and have very specific health issues. Tips were exchanged on how to cope with rude comments and stares, as well as ways to deal with sensitive skin and the best way to cool down an overheated child. At the end of the day when my husband went to get our son out of daycare he couldn’t find him because for the first time in his life, our boy looked like all the other children in room.

The NFED has had a deeply positive affect on my husband, son and myself. Nineteen years after that first conference we can look at the happy, well-adjusted, productive man our son has become and give a lot of credit for his success to this remarkable organization. That first Family Conference was one of the most profound moments in the life of our family. Connecting to a community and having someone to call when we had questions or concerns or just needed an empathic ear to listen was invaluable to us. I wish every parent of a child with differences could experience that same sense of support and community. It can make all the difference.

This blog is featured as a part of Ectodermal Dysplasias Awareness Month which is celebrated in June. For more information, visit the National Foundation for Ectodermal Dysplasias’ web site at www.nfed.org.

By Anand K. Parekh, MD, MPH

Anand K. Parekh, MD, MPH, is Deputy Assistant Secretary for Health at the U.S. Department of Health & Human Services, where he leads the Department’s Multiple Chronic Conditions Initiative. He is board-certified in internal medicine, a volunteer physician at the Holy Cross Hospital Health Center, and an Assistant Professor at Johns Hopkins Hospital.

As I approached the exam room, I looked at the clinic schedule, which noted the next patient’s reason for visiting as “DM” (medical shorthand for diabetes). Upon entering the room and speaking to Louise, I realized that the 58-year-old woman not only had diabetes, she also had high blood pressure, hypothyroidism, high cholesterol, asthma, and arthritis (not to mention a history of depression). She brought with her a plastic bag of medications – eight in all – for which she needed multiple refills. Fortunately for Louise, she didn’t require insulin as of yet; nor did she require the care of specialists. She watched her diet (though too much salt was still a problem), tried to be physically active (though her knees always ached), and made sure she took her medications on time.

Under the circumstances, Louise is in pretty good shape. But along with the 75 million other Americans who have multiple chronic conditions, she is at high risk for hospitalizations, adverse drug events, and poor quality of life, not to mention high health care costs.

Taking care of patients like Louise is increasingly common for physicians like myself. And as gratifying as it is to care for these patients, one of the reasons I was drawn into public service was to help change the system to help this vulnerable population.

At the Department of Health and Human Services, I lead an initiative to improve the health status and quality of life of individuals with multiple chronic conditions. We are supporting self-care management programs to help individuals with chronic diseases to live independently. We are also reimbursing health care providers in new ways to promote care coordination and management for individuals with multiple health conditions. And we’re investing in new research to help identify which treatments and strategies work (and which don’t) for people with different combinations of conditions.

What should you do if you have multiple chronic conditions?  Here are four tips that may be helpful:

1.     Identify a quarterback. It’s critical to have a provider, usually a primary care physician, who is responsible for managing all your conditions and medications. They don’t have to be the expert in all areas, but they should know everything that is going on with respect to your care.

2.     Make healthy choices. It’s estimated that 80% of heart disease and stroke, 80% of type 2 diabetes, and 40% of cancers could be eliminated if Americans were able to do three things: stop smoking, eat a healthy diet, and get regular exercise. These same behaviors may also prevent exacerbations of existing chronic conditions.

3.     Take advantage of community resources. There are many resources in communities that support health promotion and disease prevention. Find a trusted organization, such as a local YMCA or Area Agency on Aging, to see if they have programs that may be able to help you.

4.     Adhere to medications. People with multiple chronic conditions usually take multiple medications. Develop a reminder system to make sure that you’re taking the right medications at the right time.

With an aging population and advances in modern medicine, there will be more and more people living with multiple chronic conditions in the future. With optimal care coordination, it will be possible to enjoy a high quality of life. Taking these four steps can help individuals with multiple chronic conditions, like Louise, to optimize their health status and quality of life today and in the future.

By Rachel Buerman

Rachel Buerman serves as a Family Liaison for the National Foundation for Ectodermal Dysplasias. Rachel, her husband Chris, and two daughters live in Minnesota.  She has a PharmD degree from the University of Minnesota and currently is a pharmacy manager for the Walgreen Company.  The Buerman’s youngest daughter is affected by focal dermal hypoplasia or Goltz syndrome.

A sign in our daughter’s room says “one shoe can change your life.” This Cinderella quote could be a sick joke or a powerful statement considering it is in the room of a girl who only has one foot. As parents of a daughter with a rare genetic disorder, perspective is often the key to our experiences.

The ectodermal dysplasia syndromes affect the hair, nails, teeth, sweat glands, and skin.  Also, fingers, toes, inner ears, eyes, and nerves can develop abnormally.  The symptoms experienced can vary greatly.  It is unknown exactly how many people are affected by an ectodermal dysplasia.  It has been estimated by “The Birth Defects Encyclopedia” that seven in every 10,000 babies born are affected by an ectodermal dysplasia.

The truth is, raising a child with an ectodermal dysplasia is both a blessing and a challenge.  One of the challenges is managing the emotional toll on our family. Emotionally, we have had to deal with feelings of jealousy, uncertainty, and fear.  We have also had to manage our responses to outsider’s reactions.

It is not easy to admit but we are jealous. We wish our daughter had two feet to stand on and two eyes to see with.  We are jealous of individuals affected by more common disorders such as cancer, diabetes, or Down’s syndrome.  We are jealous that they have doctors that specialize specifically in their condition and “our specialists” have to Google focal dermal hypoplasia to figure out what it is. It is not fair that our four-year-old asks, “Why didn’t God give me two feet?”  We are jealous that you don’t have to answer that question and we do.  We fear we don’t have the right answer.

We worry about the uncertainty of her future. Will she ever be able to drive a car, graduate from high school, or live on her own?  We worry about what will happen to her if something happened to us. We wonder if we can navigate the educational system well enough so that she can be successful. We are scared that our love will be the only love she experiences.

Please know we want to share our experiences but don’t want pity. Ask us questions instead of staring. We love to talk about how smart, funny, and loving she is. Most days we want tell everyone we see how well she is doing.

We have learned how to balance the emotional toll on our family by reaching out for information, support and connections from the National Foundation for Ectodermal Dysplasias.

While the emotional side of raising a child affected by ectodermal dysplasia is challenging, the blessings she has brought into our lives outweigh the gallons of lotion and hours of doctor visits. Our lives have definitely changed since she was born. For that we cannot be more thankful. Cinderella was right….”one shoe can change your life”.

By Kari Dostalik

Kari Dostalik, of Urbandale, IA, is secretary of the National Marfan Foundation’s Heart of Iowa Chapter. She became involved when her daughter, Haley, was diagnosed with Marfan syndrome more than 10 years ago. Kari hopes that sharing her story will not only raise awareness of Marfan syndrome, but provide a bit of hope as well.

Body Image – A subjective picture of ones’ own physical appearance established both by self-observation and by noting the reactions of others (Merriam-webster.com)

Images of flawless celebrities and supermodels can be seen everywhere you look, from magazine covers and advertisements to the internet. It’s only natural to compare oneself to these images. However, for those dealing with a medical condition, this is often a daily struggle.

When my daughter was first diagnosed with Marfan syndrome, a genetic connective tissue disorder, I not only worried about her long-term health, but how she would feel about herself as she grew older. Would she embrace her tall, lanky frame? How about her curved spine or long, spider-like fingers? Would others tease her because she looked different?

Early on, my husband and I worked together to show our daughter the beauty and functionality of her unique features while instilling a sense of pride and confidence in these differences. We focused on little things, like the wonderful hugs she could give with her long arms, and how she could reach a full octave on the piano at a young age thanks to her long, flexible fingers.

We also encouraged her to discover ways she was unique and beautiful. I clearly recall the first time she discovered that she could pick up things dropped on the floor of the car with her long legs and toes (a trick that proved helpful during long road trips). The large, confident smile on her face when she first lifted a Lego block up between her toes stays with me today.

Our daughter grew up understanding that the world would be a boring place if everyone looked the same. We encouraged her to embrace the differences in people and to treat others as she would like to be treated herself. We also knew it was important to lead by example and to practice what we preached. So, whenever one of us started feeling down about something like those extra five pounds, all we had to do was look at our daughter to realize how blessed we were and that we had nothing to fret about.

This was especially true when I went through chemotherapy when my daughter was eight years old. She encouraged me along the way and told me to have fun being bald since it was something I had to go through in order to get better. It was then I realized our words of encouragement over the years had sunk in and that she would be okay.

Over the years, our daughter has grown into a beautiful, confident “tween” who is very comfortable in her own skin. She has surrounded herself with good, caring friends and dresses in a way that compliments her body type while camouflaging what she currently considers a flaw – a protruding rib cage due to scoliosis. She made it through her first year of middle school with flying colors and continues to embrace the characteristics that make her unique. And, if anyone ever asks her about these differences, she doesn’t hesitate to tell them about Marfan syndrome.

My daughter recently told me she’s glad that she has Marfan syndrome because it gave her long fingers and legs, something no one else in our family has, making her unique! She’s proud of her differences and it shows.

Does this mean she won’t have any issues as she gets older? No. As a parent, all I can hope is that she continues to feel confident in her own skin and that we’ve laid the foundation for her to become a strong, confident young woman.

How have you helped your children deal with their “differences?” What has worked for you? Share your stories in the comments below.