Four Days of Normalcy

Rachel Dahler

Rachel Dahler

By Rachel Dahler

Every summer during the third week of July, the NFED hosts a National Family Conference. This has always been my favorite time of year. I went to my first Conference in 1995 when I was six and have been to 15 since.

I can remember when I was younger, printing out countdown charts and crossing off each day that passed. One year, I even made a chart in August for the next year’s Conference. Needless to say I was excited. But why was I so excited for the conference?

Four days of normalcy.

The world is rough out there. People are cruel. They don’t think about their actions, and in turn, the following consequences.

Kids are the worst. Kids are relentless and oblivious to how hurtful they’re being. Overall, the moral of the story is that the public is rude and insensitive.

Growing up, and sadly still, the public is a constant reminder we’re different. We look different, we do things differently and we require special attention. The public just isn’t accepting of anything but “normal.”

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Rachel (far right in back) with friends at the 2002 Family Conference.

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Rachel (far right) with friends at the 2014 Family Conference.

Yet for those four days in July, the public gets shut out (for the most part) and we build our own little “fantasy land of normal.” For those four days; there is no staring, there are no rude questions or comments, and best of all, there is no judgment. Everyone is in the same situation and we are all familiar with each other’s differences.

It is our “normal” and it’s absolutely priceless.

Not having been to a Conference more than twice since 2006, and neither of those times having been with my family, this year was extra special. My parents and my little brother, Ryan, came to the conference with me and everything felt just like it had back when I was little. All the same excitement and acceptance was still there.

It was like we never missed a beat. Old friends and new, it was just perfect.

If you and/or your family have never been to a National Family Conference, I urge you to come at least once. I’m only asking for you to give it one chance because I know for a fact – no one can ever just come once. They offer such a sense of community and acceptance.

The conferences are addicting. Whether you’ve never met another person with ectodermal dysplasia in your life, or you’ve met hundreds, we are a family. A community. A support system.

We need you like you need us. Without each and every one of you, we are nothing. I promise you with all my heart, you will not regret being a part of a National Family Conference, a family reunion if you will.

I Want to Keep My HED

By Lindsey James

Keegan and Lindsey James

Keegan and Lindsey James

I became a mother on April 22, 2008. I had spent nine months preparing myself for the most important responsibility I would ever have. I was a sponge, absorbing all the information about pregnancy and motherhood I possibly could.

My pregnancy was pretty uneventful and my labor experience was a dream. Everything went exactly as the books said it would. The moment Keegan’s eyes met mine, I knew he was an incredible blessing but I had no idea just how much he was going to change my life.

The first 18 months of Keegan’s life were filled with lots of doctor visits, respiratory illness, numerous hospitalizations and many unanswered questions. I quickly discovered that those books I had spent so much time reading didn’t really apply to my baby. There wasn’t any advice about removing enormous green nasal crusts, or dealing with unexplained fevers. The suction bulb became our best friend, and I learned the best way to calm my fussy babe was to undress him.

For a baby, Keegan was great at communicating his needs and through lots of trial and error, I eventually got better at understanding him. Ultimately, an internet search led me to the NFED website and Keegan’s official diagnosis of x-linked hypohidrotic ectodermal dysplasia. I had finally uncovered the missing piece of the puzzle and I was relieved.

Keegan practices for his dentures.

Keegan practices for his dentures.

We’ve come a long way since then and Keegan is now a healthy and thriving six-year old. His biggest challenges are heat intolerance and skin irritations. He only has two natural teeth and has been wearing an upper denture since 2011. Like most things, he handled the fitting process like a champ and adjusted very quickly to wearing his denture every day. He is looking forward to being fitted for a lower denture sometime within the next year.

Keegan

He is in first grade and we are very blessed to live in school district that goes above and beyond to accommodate his needs. Prior to Keegan starting Kindergarten, I had met with the elementary principal to make him aware of Keegan’s condition and express my concern about no air conditioning in the school. I went to the meeting fully “armed” and prepared with info from the NFED as well as a letter from Keegan’s pediatrician stating that he needs A/C, etc.

I was pleasantly surprised that the principal already had a plan. He was more than excited for Keegan to start school and was committed to proving him with the environment he needed to be successful. Window air conditioners were installed in both Kindergarten classrooms. This year, the units followed Keegan to the first grade classrooms. A portable A/C unit is available for Keegan to use during music class if needed.

The school has also provided an insulated “emergency” bag that contains cold water, a Frogg Togg cooling towel and ice packs. The bag is used for field trips, and also on days Keegan gets too warm during recess or gym class. I worked with the school nurse to establish an “emergency plan” for Keegan and was thrilled when I learned that an upper grade teacher who doesn’t even have Keegan for a student yet was familiar with the plan.

When it comes to friends, Keegan seems to make them easily. He has had a few issues with other kids teasing him, but not necessarily because of his HED. Last year, an older boy was teasing him for having “yellow” teeth. It definitely bothered Keegan to be picked on, but he recognized the ridiculousness as the teeth of his denture are beautifully white. Keegan chose to ignore the boy and eventually the teasing stopped completely. More than likely, the older boy didn’t even know Keegan wears a denture and was just being a bully.

I‘m well aware that teasing will undoubtedly be a challenge we are faced with more and more as Keegan gets older. My hope is that he will keep his positive attitude and continue to handle these types of situations sensibly.

It has always been important to me that Keegan understand his condition and embrace his differences. He knows his limits and doesn’t over-extend himself, but rather than giving up, he has learned many ways to adapt and keep himself comfortable. He is a brilliant little man in both wisdom and personality. He is proud of who he is and likes that he’s unique. It warms my heart when I catch him making his own HED awareness videos with his Leap Pad and stuffed animals (all of which are also affected by HED).

Ninja Keegan

Ninja Keegan

A while ago, I had shared with him the exciting news about the EDI200 clinical trials. A small part of me worried that he might be disappointed that the trial was only for newborns. His response was quite the opposite – “But I WANT to keep my HED!” he exclaimed, concerned that someone was going to try to change him. My heart overflowed with pride.

Granted, dealing with ectodermal dysplasia isn’t always as easy as Keegan makes it seem and can be absolutely be overwhelming and frustrating, but thanks to the NFED, we are not alone – we have each other. I take great comfort in that and I look forward to what the future holds for my little man. No matter what “speed bumps” HED may create throughout his journey, he will persevere. After all, ectodermal dysplasia may come with a variety of limitations but it also comes with an incredible, persevering spirit.

Ectodermal Dysplasias and Relationships

DatingGraphicA few weeks ago, I offered to write a post about dating. At the time, I had just written the post about ectodermal dysplasias in the workplace and I was thinking that dating would be another good topic to explore. The truth is, it’s actually kind of hard to determine how much ectodermal dysplasias is to blame for things being difficult, or whether you’d have a hard time with these things even if you didn’t have a genetic disorder. A lot of people have challenges with dating and relationships, whether they have birth defects or not. I don’t claim to be an expert in dating or in relationships, so I will just tell a bit of my story and share some of the things I’ve observed along the way.

Self Image

A lot of girls and women struggle with their self image. From a young age we’re taught (by media and by our peers) that our worth is derived from our looks, and that being pretty and delicate and feminine is ideal. We learn to criticize ourselves harshly. My stomach is flabby. My thighs are so gross. I hate my hair. We overhear other women complaining about their bodies and we compare ourselves to them, always thinking of what is imperfect and what needs to be fixed.

Growing up, my two closest friends were very pretty. They easily attracted the attention of boys and they thrived on it. I often felt like the ugly duckling around them, especially when they would critique their own appearances. One time that really stands out is when a friend was admiring herself in the mirror and said that she thought her eyes were her best feature. I asked her what she thought was my best feature. She thoughtfully studied me for a minute before saying, “You have nice ears!”

I can laugh about that exchange now, but for a long time I thought that maybe my ears really were the most attractive part of my head. Over time, and with effort, my self image improved immensely. Getting dental implants was a big help. Figuring out how to manage my unruly hair was another. But it wasn’t all superficial things. I stopped reading beauty and gossip magazines. I started paying attention to the fact that beauty is not merely what is on the surface. I saw how beauty can radiate out from within a person, and even the most physically beautiful people can appear ugly if what they project from inside is unpleasant.

The Teenage Years

Most of my teenage years were spent dreaming about having a boyfriend. Perhaps a victim of the Disney portrayal of romance, I expected that a boy would just see me, be smitten and would ask me to be his girlfriend. That’s how it worked in the movies, right? I had plenty of crushes at school, but I was too shy and nervous to interact with any of them. In middle and high school, I was really self conscious about myself. It wasn’t even just my EEC-related differences that I worried about. I worried about how my butt looked in my jeans. I worried about being flat-chested. I worried about my hair being the right style, and wearing the right kind of clothes, and having the right backpack. I guess a lot of high school kids worry about those things too. It all seems so silly in hindsight.

While I did have guy friends throughout high school, it wasn’t until I got to college that I finally had a boyfriend. By then I’d almost given up hope of ever finding a guy (dramatic, right?). Josh was a guy in my church youth circle that I’d known for years. We had a lot of friends in common and I’d always thought he was attractive (my friends and I called him ‘Travolta’ behind his back for his resemblance to a young John Travolta). He called me one night after we’d spent a lot of time together at a youth weekend and asked if I wanted to be his girlfriend. My heart was in my throat. It was the first time a guy had admitted to liking me, and the first time a guy had genuinely wanted to date me. Of course I said yes, and just about died of the thrill of it.

Because I’d known Josh as a friend before we started dating, he was already familiar with my hands and feet, and he knew that I was going through a lot of dental work. He was a pre-med student so he was really interested in everything about me. He even went with me to a couple of my dentist appointments. My EEC was not a deterrent to him at all. He loved my long blonde hair and he said that he was so used to holding my little hands that it would be weird for him to hold hands with someone who had all her fingers. The first time we kissed, I was so nervous that he would be able to tell that my teeth weren’t real. I buried my head in his chest to keep him from getting near my mouth. But it turned out that liked the way I kissed and he didn’t care that I didn’t have real teeth. He helped me overcome a lot of my insecurities about my appearance. He told me that I was gorgeous inside and out. He really opened up my eyes to my unique beauty and helped me accept myself as I was.

Eventually, Josh and I broke up, but our relationship did a lot to boost my confidence. I was actually excited to go out and date other guys because I was so much more confident than before.

Twenty-something

Of course there are certain things about EEC that can’t be hidden. My cleft lip scars and my ectrodactyly are pretty obvious. It wasn’t something I ever felt like I should announce or try to explain to someone that I just met. Having a physical difference is sometimes a blessing because it weeds out the superficial people right away.

I had a couple of occasions where things were going well on a first date, and then after the date or encounter ended, the guy would contact me online (these were the days of AIM), and ask me what had happened to my lip or my hands. Had I been in an accident? One guy even told me that he didn’t see us working out, but that I shouldn’t feel bad because it wasn’t because of my harelip. (He got an earful for that one!)

Another dating situation gone awkward was the time I met up with guy who I knew through work. He took me mini-golfing on a hot summer afternoon. I didn’t think it would be a big deal, but by then I’d grown used to sitting in an air-conditioned office all day at work, and had forgotten what a sunny, midsummer afternoon could do to me. By the end of the golf game, I was beet red and shaky on my feet. He took me to a restaurant where I cooled off and regained my composure, and it never came up again while we dated.

For the most part, I’d say that my dating experiences were typical. Sometimes there was simply no chemistry between me and a guy, but I never thought it was because of my EEC. If it was, guys were polite enough not to mention it. I did find that sometimes guys would assume I had really low self confidence and that I’d be more willing to do things that other girls wouldn’t have. An example was a guy from work who started hitting on me and kept asking me to meet up with him at a hotel room. No dinner dates or romance, just meet me at a hotel. Yeah right, buddy!

The Long-Term Deal

Dave won me over with a chocolate frosty on my birthday. We worked at the same company, though we didn’t see much of each other. On my birthday, he called me and told me he had a present for me. I went down to the shipping office and talked to him while he ate his lunch and I ate the frosty. “We should go out sometime,” he said.

One afternoon after we’d only been on a few dates, I mentioned that my feet were sore. Dave offered to massage them for me, but I declined. He hadn’t seem my feet yet and I wasn’t ready to reveal them. He sensed my hesitation and assured me that it was okay, and he didn’t care if my feet were different. He pulled off my socks and gave me a foot rub, and well, if the chocolate frosty hadn’t been enough, this was certainly the icing on the cake.

In the beginning of our relationship, I kept a lot of my maintenance routine secret from Dave. All of my dental-cleaning apparatuses were kept hidden away. I waited until the lights were out before I put ointment in my eyes at night. Over time, more and more things came up in conversation and I became more relaxed about him knowing all my little secrets. It wasn’t so much that I was ashamed of these things, just that I didn’t want him to know just how much work it took to make myself presentable. But a relationship is a partnership, and having him be aware of all of my little issues is very helpful. Having his understanding of my needs makes my life a lot less stressful than having to hide everything from him.

My ectodermal dysplasia has affected our relationship in some ways. Dave spent part of his youth growing up in Miami. He loves hot weather and going to the beach. I’ve told him that I’d like to go on a tropical vacation, but he worries that I will be miserable in the heat. Sometimes I think he worries more about how I will handle the heat than I do. But then again, he is the one who suffers my extreme grumpiness when I do get overheated or get a headache.

Some Advice

If I could go back in time and talk to my teenage self, I would tell her to relax about finding a boyfriend. I know it’s hard at the time, especially if it seems like everyone else is dating or in long-term relationships. I would tell myself that I was beautiful and funny and nice, and that people liked me. I would suggest that I be a little more assertive and not be so afraid of being rejected. All those boys I had crushes on at school and never talked to? Well… what harm would have come if I’d just made an effort to get to know any of them? Or, to really go out on a limb – what if I’d actually asked one of them to go out sometime? I know the concept would have blown my mind at the time, but maybe it’s not too late for you, dear reader.

Relax. High school is not your whole life. I know it feels like it when you’re there, but before you know it, it will be history. Grab the opportunities that come your way. Get involved in activities or clubs that interest you – that’s where you’ll meet people who you can really connect with. Having good friends does a lot to boost your confidence and helps increase the chances of finding a date.

Being happy with yourself is really important. No matter who you date now, or who you end up married to – you have to live with yourself every day for the rest of your life. So take the time to figure out what you like (and don’t like) and surround yourself with people who have similar goals and interests. Don’t let negative people drag you down. Don’t change yourself to fit in with people. Love yourself and be proud of your talents. After all, there is no one else quite like you.

Richter Receives NFED’s Highest Research Award

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Mary K. Richter

Our founder, Mary K. Richter, received a standing ovation as she was named the Kenneth S. Brown, M.D. Research Award recipient for her monumental impact on ectodermal dysplasias research.  Timothy Fete, M.D., M.P.H., from the Scientific Advisory Council (SAC), presented the award to Mary Kaye at the Saturday celebration dinner at the Family Conference in July.

Dr. Fete credited Mary Kaye for understanding the importance of research when she started the Foundation and having the vision to create and execute a program that has made so many successful discoveries. He lauded her ability to speak to the world’s leading researchers and scientists and persuade them to take interest in these rare conditions. The program under her tenure led to the development of a treatment for XLHED being tested in clinical trials; and started AEC syndrome and Goltz syndrome on similar paths.

The award has only been given five other times in the NFED’s 33-year history. It is named in honor of Dr. Ken Brown, who served on the SAC from 1983-1988. He made significant contributions to ectodermal dysplasias through his work at the National Institute of Dental and Craniofacial Research.

Past Recipients of the Kenneth S. Brown Research Award

1991 – Newton Freire Maia, M.D.

1993 – Jonathan Zonana, M.D.

1996 – Juha Kere, M.D., Ph.D.

2001 – J. Timothy Wright, D.D.S., M.S.

2006 – Margret Casal, V.M.D., Ph.D., Pascal Schneider, Ph.D., Olivier Gaide, M.D., Ph.D.

Dr. Tim Fete presents the Ken Brown Research Award to Mary K. Richter.

Dr. Tim Fete presents the Kenneth S. Brown, M.D. Research Award to Mary K. Richter.

Ectodermal Dysplasias in the Workplace

Choosing a Career Path with Ectodermal Dysplasias in Mind

I’m not very old, but already I’ve experienced a variety of career fields. From an early age I loved to draw, build, create, imagine. I didn’t consciously think about what I wanted to be when I grew up. In fact, that was one of those questions I struggled to answer. While other kids said they wanted to be a ballerina, a fireman or a teacher, I would shrug my shoulders and say “I don’t know!”  I pursued activities that were related to my interests, so I took a lot of art and music and enjoyed spending time out in the woods exploring nature.

As high school drew to a close and I had to figure out what I wanted to do in college, I decided I wanted to be a children’s book author and illustrator. Reading and enjoying the artwork in children’s books had been an important part of my childhood. As a teenager, I hadn’t lost that childlike sense of wonder about the world and the love to explore new places and concepts through books. After a few semesters as an art major, I dropped out of college. Not because it was hard or challenging, but because it was neither of those.  I wanted to push myself out of my comfort zone and see what else was out there.

Over the next decade, I worked as a customer service rep and then an account manager at a dental supply manufacturer (oh, the irony), I worked in a shipping warehouse (fun!), I worked at a flower farm (exhausting) and at an insurance company (yawn!). I went back to school and got a bachelor of science in landscape architecture, and then continued on to become a certified master gardener. I volunteered at a youth prison where they had a vegetable garden. Never once did I consider that my EEC might limit me in any of those pursuits, although the heat did eventually become a deterrent to working outdoors full-time.

My current career field is in marketing. Most days are spent in a temperature-controlled office environment, which is ideal. I used to think that working in an office environment would be horribly boring and soul-crushing, and believe me, I’ve worked in some offices where that is true. Fortunately, the place I work now is not like that at all. Since one of my duties is to help with organizing and hosting events, I get to spend a lot of time away from my desk. I even get to travel!

Your Syndrome and Interviewing

For much of my life, I pretended that I did not even have EEC, and that no one else would notice it. I treated my hands and my cleft scars as two separate issues. I figured that most people knew what a cleft lip and palate was, and so I didn’t feel that it needed any explanation. My hands were easily concealed under a table during interviews and so I told myself that people didn’t even notice them.

Once, I was applying for an internship, and after showing my portfolio to the interviewer, she shook her head in amazement. “Your drawings are so beautiful, and you’re… challenged!”, she said, eyeing my hands. It opened up an opportunity to discuss my hands, but I was irritated that she’d noticed. Instead of using the moment to educate her, I responded that I didn’t know how people with five fingers managed to draw or write with all those extra fingers.

Many years later, after some attitude adjustments, my hands came up again in an interview. This time, it was I who brought them up and talked about how I didn’t let little “challenges” hold me back in life. I got the job, hands down.

Discussing Your Syndrome with Your Supervisor or Co-workers

At no time in my professional career have I sat down with any of my bosses and laid it all out on the table. Most of my supervisors had no idea I had any kind of syndrome – just that I had a cleft lip and palate and some hand defects.

As I mentioned before, when I was younger, I was pretty defensive if anyone suggested I might not be able to do something on account of my hands or for any other reason. I did not tell anyone that I was sensitive to heat, or that I didn’t like being out in the sun. Instead, I would suffer through situations, gritting my teeth and telling myself I just needed to be strong. I didn’t want to give anyone reason to think I was weak.

The last time I worked at a job that involved being outdoors, I did explain to my boss that I was struggling with the heat and the sun. At the time I was still not fully comfortable discussing EEC, so I didn’t give him the whole story, but just enough so that he would understand my limits. He did work with me to arrange my schedule in a way that kept me out of the sun at the hottest parts of the day.

In the last several years I have become more open about my syndrome. A lot of my co-workers are Facebook friends with me and have seen photos of me with my NFED Conference friends. This has spurred some discussion with people who were curious to know what the NFED was and why I was involved. Depending on the level of trust I have with the person, I share what I feel comfortable sharing. All of the interaction I’ve had with co-workers asking about my syndrome has been positive. I don’t go around flaunting my differences, but I am not ashamed or shy about discussing them either.

My current supervisor is aware that I have hearing loss, though this is not something that is usually apparent in my day-to-day work. Since most of our work is indoors in air-conditioning, I do not worry about overheating.

Daily Reminders 

At first glance, I don’t think that EEC affects my work day. The reality is, that it is as much a part of who I am as say, being a woman. There are things that I experience each  day that are related to my syndrome, but I am so used to them that they often go without notice. For example, my nose runs a lot. I always keep a tissue box on my desk and bring a clean tissue whenever I have to step away from my desk. I am also self conscious about getting food stuck in my (artificial) teeth, so I keep a small mirror at my desk and in my purse so I can check my teeth whenever I eat. I carry disposable toothpicks and floss so I can clean around my implants during the day. It’s no fun having a pesky piece of spinach wrapped around an implant post.

My eyes are probably the biggest daily battle. In one day my eyes can go from being dry and scratchy to excessively teary to painfully dry or just plain painful. If I am diligent about putting my eye drops in, I can ward off some of the discomfort. However, putting in eye drops can be a hassle in itself. If you’ve ever tried to read text on a computer screen with blurry eyes, you know what I mean. By the end of a long day at work, my eyeballs are usually the most tired part of me.

Another aspect of EEC that arises somewhat regularly is the handshake. It’s not every day that I meet someone new and shake their hand, but when I do, it’s interesting to observe their reactions. Most people either don’t notice, (or they are really good at pretending they don’t notice), but occasionally people will do a double-take or a discreet glance to see what’s going on down there. The worst was one woman who literally bent her head forward to stare, open-mouthed at my hands our hands parted. It was so ridiculous I almost laughed out loud.

Overall, I would say that yes, there are aspects of my syndrome that can be annoying and some days even a deterrent to having a productive work day. Fortunately I am able to manage most of my “issues” and they are just an accepted part of my daily routine. I am really thankful for my current job, where the air-conditioning flows freely and I have a flexible schedule that allows me to go to the various doctor and dentist appointments that I need. (That’s another aspect of EEC – lots of specialist appointments!)

In Conclusion

Of the people I know who have EEC, I don’t anyone who has let their syndrome prevent them from pursuing their dreams. We can write, type, wear gloves (maybe a little differently than you do), sew, use scissors, etc. Life might not work out exactly as you anticipate, but with an open mind and creative thinking, you can be successful in whatever it is you want to do. Shoot for the moon!