Come Out and Welcome In

Late one evening while browsing my email, I discovered that someone had sent me a message using the “Contact Me” form on my blog, EEC Chick.

So happy to find your blog and that you have dedicated time to help others with EEC. My wife and I just found last week she is carrying a child with likely EEC…Your blog has given us a sense of humanity, inspiration and hope. Finding your words, thoughts and accomplishments have helped us make the next step towards acceptance and positivity.

My heart swelled as I read the email. To think that all these words I’ve written had actually reached people who needed to read them. What a rewarding feeling!

Creating a blog about EEC was something I had wanted to do for years. I was hesitant though, because I didn’t necessarily want the whole world knowing that I wasn’t “normal.” Of course I knew people could look at me and see that there were things about me that were different, but the truth was mostly shrouded in secret.

In 2011, when I decided to get involved with the National Foundation for Ectodermal Dysplasias (NFED), I had been going through a period of figuring out how I could do something to give back to the world. I felt that perhaps getting involved with an organization that supported families and individuals who had similar challenges as I would be a good place to start. It was in going to that first conference that I began to feel cracks in the façade I had built up to protect myself all of my life.

Heather and Zemery Dennis

As a liaison, Heather befriended Zemery Dennis at an NFED Family Conference. Both are affected by EEC syndrome.

I became a liaison and began the first steps of “coming out” about my syndrome. Part of being a liaison meant that I would be listed on the NFED page, with a photo and a short bio. A part of me worried that people I worked with or wanted to impress would come across this and think less of me because I was a person with a condition – imperfect. But I also felt a sense of pride in stepping forward and letting my syndrome be named.

It wasn’t until a few years later that I finally decided to write a goals statement and plan out a blog. I wanted to share my stories to show that living with EEC isn’t a terrible thing. I wanted to pave the way for others, to let them see that they or their children could have a pretty normal life, despite having EEC. I also felt that blogging about myself and my experiences would be a therapeutic way for me to get over some of the things that happened in my life, and to realize my strengths.

For the first several posts I focused on things that had happened to me a very long time ago. It was easier to share things that had happened when I was very young, because it was almost like I was writing about someone else. Yet there was a very personal element to it all. It was like travelling back in time to my childhood and the thoughts and fears I had as a little girl.

I shared the blog with my friends from the NFED, and with my family and a few close friends, but I didn’t make an effort to spread the word outside of that group. After a while, my blog began to show up in Google searches. Through the WordPress stats page I could see how many visitors came in through searches, and in some cases I could even see what words they used in their search. The more I wrote, the more visitors trickled in.

When I received the email mentioned above, I had been blogging as EEC Chick for about a year and a half. I was getting to a point where I was thinking that maybe I had written enough about EEC and that perhaps I should move on to another topic.

Receiving that email from this young family (Dennis and Lindsay Claire) reminded me that while I may feel like I’ve written all I can about EEC, I will never know when someone out there will need to read about it.

I responded to Dennis and thanked him for his kind words. I recommended that he get in touch with the NFED, and conveniently, there was a regional conference coming up in a few weeks where we could actually meet in person.

Three weeks and a few emails later, I was face-to-face with Dennis, Lindsay and little Denny, who had made the trek all the way from Maine to White Plains, New York for the conference. Throughout the day, I saw many different people approach Dennis to ask his story and then become amazed at how his family had found their way to the NFED.

Writing and sharing my story has led at least one family to the NFED, and in so doing, has given them hope and a positive outlook for the future of their affected child. Writing has also helped me to become more comfortable talking about my syndrome with anyone. I find myself telling coworkers about my artificial teeth or about my ear troubles – things that my former self would have curled up and died before mentioning publicly. It has given me confidence and a sense of pride in who I am and in what I have been through.

Writing on my blog and on the NFED blog is one way of paying it forward. Being involved with the NFED and volunteering in various ways is another. I know that there is an abundance of love and support in our NFED community and being able to share that joy with others is an incredibly rewarding feeling. I hope that as you read this, you are inspired to share your story and your journey. You never know who might be helped by your efforts.

(Editor’s Note: Share your story with NFED. Or, sign up to volunteer. Heather McKelvie is a guest blogger for the National Foundation for Ectodermal Dysplasias.)

My Smile – 23 Years in the Making

By Jacob Moss

On November 3, 2014, I completed my dental implant process. For the first time in my life I had a “permanent” set of teeth.

As a 23-year-old man with hypohidrotic ectodermal dysplasia, permanent teeth had always been an abstract concept to me. The process was long and, at times, difficult; but now I’m done. It is a strange feeling being done. Although I started the actual implant process five years ago, it was really 23 years in the making.

Growing up, my dental situation was, for lack of a better term, inconsistent. I was born with eight teeth.

Jacob as a toddler

Jacob as a toddler

Through the years I had various bonding procedures to correct their conical shape and I had braces to close gaps. But all the braces in the world can’t close all the gaps if you’re working with only eight teeth. I was never overly self-conscious about my teeth. Growing up, I was more aware of my lack of hair than my lack of teeth. I ate what I wanted to eat and most of the time didn’t think twice about it.

IMG_2672

Jacob with bonded teeth in junior high

As I got older, I realized that I would most likely have to have dental implants. The thought of implants scared me. I was probably only 12 or 13 and the idea of having titanium screws implanted in my face was less than appealing. I didn’t like talking or thinking about implants. And, for the most part, my parents respected that and kept the topic of implants on the back burner until it was actually time to discuss them seriously.

During my senior year of high school, I began the process that eventually led to my implants. I was scared and didn’t see why I had to even consider changing my teeth. As I said before, I could eat what I wanted and wasn’t too concerned about my appearance.

I began consulting with a dentist who, much to my relief, proposed a treatment plan that did not involve dental implants at all. Instead, he suggested a permanent bridge, something that would be cemented onto my existing teeth. I was relieved. No implants meant no drawn out painful process.

The feeling of relief was short lived. In the following months, I received a crash course in questionable dentistry. The temporary bridges my doctor made for me often came loose, exposing my extremely sensitive teeth, which he had ground down without warning or novacaine.

I was frustrated, in pain and constantly living with anxiety that the temporary bridge may fall out at any moment. Fortunately, my negative experience with him was greatly outweighed by the overwhelmingly positive experience I had with my second doctor, Harel Simon.

My parents were referred to Dr. Simon by the pediatric dentist who took over my original dentist’s practice when he retired. His entire approach to dentistry was the polar opposite of my previous doctor. My first appointment with him he strongly recommended going the implant route.  The roots of my natural teeth were very weak and the bridges the previous doctor outfitted me with were heavy. Eventually everything would quite literally fall apart.

Right off the bat, Dr. Simon encouraged me to voice any and all concerns I had as well as to ask as many questions as I could think of. I knew this guy for 15 minutes and he’d already made me feel more comfortable than the doctor before ever had.

As surprising as it sounds, I am grateful I had my negative experience with the previous doctor. It forced me to grow up a lot and stand up for myself in a way I never had before. Rather than jumping into a new treatment plan without explanation, Dr. Simon explained everything in great detail and addressed all the questions and concerns I had. Soon afterwards we decided to proceed with a new treatment plan that included implants.

To call my new treatment plan extensive would be putting it lightly. The end game was full upper and lower bridges fixed to a total of ten implants. The length and nature of the treatment plan became a strong deciding factor for where I chose to attend college.

Fortunately, my first choice school was also the closest to Los Angeles. My close proximity to home would allow me to continue my treatment while attending school. I was about to simultaneously embark on two of the most daunting journeys I had ever faced. I was nervous but at least now I had a doctor I trusted and treatment plan that I understood.

TO BE CONTINUED…

Déjà Vu All Over Again


2014 Head shot

By Mary K. Richter

NFED Founder and Executive Director 1981-2010

While we often hope for or look for change or something better, time suggests that much in life doesn’t really change all that much.

Take for instance the mom who works hard to teach her children to put away their toys and possessions. Chances are that the child will learn from mom’s example and continue accordingly.  I don’t know if my mom wasn’t very good at teaching that or if I am really as spoiled as my older brother and sister would attest but that’s something I didn’t learn especially well.

On the other hand, some lessons from my mother about how to treat others, the arts or working hard for what I wanted seemed to be learned fairly well.  She also taught me to be tough when it was called for and it was perhaps that lesson that ended up being most important of all.

Just yesterday, Chuck and I were having a discussion about the fact that his little girl is now the age that he was when he received his first set of dentures.  Neither of us remembers a whole lot about the experience other than it was a challenge and a challenge worth winning.

Charley Without Dentures

Charley Without Dentures

He certainly doesn’t recall seeing the dentist when he was 2½ or the day we came home with his first set of dentures. It’s hard to believe but that was 34 years ago.

At that time, dentures were typically made for teenagers who often struggled mightily trying to adapt.  Even our dentist wasn’t certain it would worked but he worked hard to make certain the dentures fit and were the right size and it was my duty to help Chuck learn to wear them.

Charlie with dentures

Charlie with dentures

We came home from the dentist and it was quickly obvious that the “tops” were going to stay in with little difficulty and that the “bottoms” were not.  The good doctor didn’t have much advice other than a half set of dentures would do little good.  We were a team – a dedicated dentist, a determined mother and a somewhat reluctant toddler.

However, it was that dedication and determination that made all of the difference when it came to creating a confident adult willing and able to manage the nuances of ectodermal dysplasia.  In retrospect, the time needed for Chuck to adapt was minimal–about a month.  Never was an investment of time and effort more valuable.

Each time I see a youngster who has not received dental care, I wonder why such is the case.  Could a competent dentist not be found?  Was cost the prevailing determiner?  Were parents unwilling to make the effort that needs to be made?  Whatever the reason, I know that the youngster is at risk for teasing, torment, self-doubt and embarrassment.

Is the future for children who don’t get care bleak?  Not necessarily but I am inclined to think that they face more challenges than those children who receive care prior to entering school.  Over the years, I have met many, many adults affected by ectodermal dysplasias. Some have adapted to life’s challenges amazingly well while others have not.

Having dental care at an early age does not mean all of the issues associated with ectodermal dysplasias will be eclipsed.

However, the adults I have met who have struggled mightily nearly always have one commonality-a lack of early dental care. 

There was a time when the only option was dental care nearing adulthood of the patient.  But that simply is no longer the case.  Why would anyone want to play roulette with such a critical matter? Why would anyone let a child make such a critical decision?  Why would anyone want to pursue anything other than the best for their child?

As I consider my granddaughter and what I would do if she had the same needs as her father did 30+ years ago, the thought scares me.  I don’t know if I could do all of that another time.  But I do know that I’d have to find a way.  I want the very best for her just as I did for her daddy.

charley

Charlie today

For me, there would be no option.  It probably would be tougher as this grandma tends to spoil her grandchildren but it would have to be done if we are to provide the best possible life for her.  In many ways, it is déjà vu all over again as I remember those early years and the magic dental care provided in Chuck’s life.

Will you be equally satisfied with the decisions you make as you consider your contributions to your child’s life?  We only get one chance and my hope is that your déjà vu will give you a sense of happiness and pride.  I hope so.

Mary K. Richter is a guest blogger for the NFED. She founded the NFED in 1981 and served as executive director until 2010 when she retired.

10* More Rare Ectodermal Dysplasias

Dare to be Rare
All of the 180+ different types of ectodermal dysplasias are considered “rare” because they affect less than 200,000 people in the United States. But some of the syndromes are much more rare than others. Here is a sampling of 10 that fall into that latter category.

Book’s Syndrome – 1 person

Signs and symptoms include failure of premolars to develop; excessive sweating; and premature graying of the hair.

Coffin-Siris’s Syndrome – 1 person

Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking.

Underdevelopment of the tips of the fingers or toes, or hypoplasia or absence of the nails also occurs. Most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body, but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head.

Cranioectodermal Dysplasia – 1 person

Cranioectodermal dysplasia affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead and an elongated head due to abnormal fusion of certain skull bones.

A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes, and outside corners of the eyes that point upward or downward among others. Development of bones in the rest of the skeleton is also affected in this condition. Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin. It can affect additional organs and tissues in the body and include abnormalities of the liver, heart, or eyes.

Hypomelanosis of Ito – 1 person

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color. These skin changes may present as patches, streaks or spiral-shaped areas. There are a wide variety of symptoms potentially associated with hypomelanosis of Ito. Neurological findings such as seizures and developmental delays and musculoskeletal symptoms such as abnormal curvature of the spine are commonly associated with this condition.

Because of the neurological and skin symptoms, hypomelanosis of Ito may be referred to as a “neurocutaneous” syndrome. However, in many cases the condition arises from genetic irregularities that are present in some cells of the body, but not in others. Some researchers believe that hypomelanosis of Ito does not represent a distinct disorder but rather a symptom common to a group of disorders involving genetic mosaicism.

Trichodental Dysplasia – 1 person

Trichodental dysplasia includes missing teeth, peg-shaped incisors, and shell teeth.  The hair is fine, sparse, dull, and slow growing. Mild microcephaly and mental retardation may occur.

GAPO – 1 person

The GAPO syndrome is a rare but distinct genetic disorder. GAPO is an acronym for the manifestation of growth retardation, alopecia, pseudoanodontia and optic atrophy. Symptoms of GAPO affect the hair, teeth, eyes, skin, and face. Specifically, GAPO syndrome is characterized by reduced birth length, alopecia (hair loss from the scalp or body), failure of the teeth to erupt from the gums, and loss of some or all of the fibers of the optic nerve, a condition known as optic atrophy. The optic nerve carries visual information from the eye to the occipital lobe in the brain, which then processes the information. In addition, physical growth is delayed. Symptoms such as reduced birth length can be observed at birth

Gorlin-Chaudhry-Moss’ Syndrome (Gorlin’s Syndrome) – 1 person

GCM is characterized by premature closure of the fibrous joints, or sutures, between certain bones in the skull, unusually small eyes, absence of some teeth, and excessive amounts of hair) on most areas of the body. In addition, growth retardation, short fingers and toes, and underdevelopment of the two long folds of skin on either side of the vaginal opening in females can occur.

There may be an abnormal opening between the two large blood vessels that carry blood away from the heart which can cause patent ductus arteriosus, an inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body. Some people with GCM may have delayed growth and hearing loss. Some may have mild intellectual disabilities, while others may be of normal intelligence.

Johanson-Blizzard’s Syndrome – 1 person

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. Characteristic features include insufficient intestinal absorption of fats and other nutrients due to abnormal development of the pancreas; failure to thrive during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial region including a small “beak-shaped” nose; and/or varying degrees of intellectual disability.

Odontoonychodermal Dysplasia Syndrome – 1 person

Symptoms include dystrophic nails, misshapen teeth, including peg-shaped incisors, and erythematous lesions of face and thickening of the palms and soles which showed hyperhidrosis. The hair can be unaffected or dry and sparse with thinning of the eyebrows.

Papillion-Lefevre’s Syndrome – 1 person

Papillon-Lefèvre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles, in association with severe inflammation and degeneration of the structures surrounding and supporting the teeth. The primary teeth frequently become loose and fall out by about age five. Without treatment, most of the secondary teeth may also be lost by approximately age 17. Additional symptoms and findings associated with PLS may include frequent pus-producing skin infections, abnormalities of the nails, and excessive perspiration.

 * The numbers of people affected are taken from the NFED database and not based on medical literature. Like all ectodermal dysplasias, we are confident that more people are affected by these types. However, they are not in touch with the NFED.

Be Happy That You Are You

You are who you are for a reason.  You’re part of an intricate plan. 
Be happy that you are you.  We certainly are!

Be Happy You Are You

I remember as I was growing up thinking, “Gee, I wish I was more athletic, prettier or smarter.”  Even now, I wish I was shorter so I could wear those sexy, stiletto heels!

When I was raising my children, one wanted to be taller, one shorter, one smarter, one more outgoing, and one more athletic.

Why are we always wishing for something we don’t have?  Who knows!  All of my children grew up to be very successful, beautiful and wonderful individuals.

I have come to realize that I will never wear those 4-inch heals unless I want to rub heads with the ceiling.  And, really, is that so important anyway?

Sometimes we feel like we just don’t have enough, whether it’s money, time, romance, physical attributes or really anything that might cause us to be dissatisfied or unhappy.  However, we all realize that everyone has their battles and the grass is always greener and yadda, yadda, yadda. But, how do you really accept who you are and the hand you’ve been given?

With strong determination, persistence of mind and a good support system, being unhappy with what you have won’t even be a consideration or thought.

During this Ectodermal Dysplasias Awareness Month,  I am looking at all of the beautiful faces of ectodermal dysplasias; all of the beautiful children, all of the wonderful men and women who live with the conditions every day.  You know much better than I do the challenges you face day in and day out.

Every day, you make the world a better place in spite or because of your challenges.

You and your family are important to us and to each other.  We need you.  You have so much to offer to make a difference in the world and your organization, the NFED.

Help us continue to grow the NFED into a strong leader in treatment and research.  Help us continue to support individuals and families in need.

Working together is vital to our success and makes us all stronger.  The human body is a blob of cells; all of these cells are vitally important so the body functions well.  Each cell is important and the body depends on all of them.

Each and every one of you are important to us and to the ectodermal dysplasia community.  Together, we are strong. Together we can move mountains and do great things.

“The whole is greater than the sum of its parts.”  ~ Aristotle

Be happy that you are you!  Celebrate your successes and share them with us.  Join us in celebrating the NFED’s accomplishments and help us attack our challenges.

Please contact me. I would love an opportunity to get to know you, share what is going on at the NFED and make you part of our plan.

Be happy that you are you.  We certainly are!