Our First Conference

By Randi Walker

I can still remember walking in to our first conference in Colorado Springs, Colorado. Weston, our only child at the time, was three years old. Those first three years were quite difficult. Weston had experienced several symptoms of X-linked Hypohidrotic Ectodermal Dysplasia, but his doctors had never heard of it so Weston went undiagnosed. We were so confused and scared, knowing something wasn’t right and not having any answers. We found our answers after using Google and coming across the NFED website.

The annual conference was coming up and we knew we needed to be there. We were

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The Walker Family

awarded a scholarship to cover the conference fees and what a help that was! We booked our flight and headed to Colorado. When we first walked into the conference, we immediately noticed that everyone looked like us, no one stared at us for looking different. No one asked if we had cancer or why we didn’t have any teeth. Everyone just smiled and welcomed us with open arms. People were telling me how cute my Weston was, this was not something I heard very often from strangers. We instantly felt like we were at home!

I think I cried throughout most of the conference because I was just so overwhelmed with joy. What a comfort it was to meet other families who knew every struggle, every emotion, every setback that we had experienced over the last three years. I never felt like I had to explain myself to anyone there, they just knew. Throughout the conference, we attended meetings and met with doctors. We learned more than we could ever had hoped! Everyone had such valuable tips on keeping Weston cool and safe. There were people there to teach us what to expect as Weston got older. We felt so prepared to tackle the challenges we faced.

The conference wasn’t all meetings and medical jargon. There were events planned for the children, activities for them to play with kids that were just like them. Weston made important, lifelong friends at the conference; we all did! It is so vital to have a support system of understanding, caring people and we found that at the conference.

Making the decision to go to the NFED conference was the best decision I’ve ever made for my family and myself. I’ve been back 3 times, bringing my other 3 children, all affected by XHED. The opportunity to bond with families just like us is an experience we don’t take for granted. We met our family at the NFED conference and we couldn’t be more grateful for all of their love and support throughout the years.

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Summer Fun

Whew! Hot weather has arrived in the Midwest. We are enjoying a beautiful sunny day, bright sunshine and blue skies but it’s also hot and very humid. Hmmm. It might not be such a beautiful day if you or your kids don’t sweat.

I remember the days when my kids would come in from outside, all hot and sweaty and 19724857784_5fc2e50cb5_zhaving the time of their lives. There’s baseball, kick ball and all kinds of summer fun. There’s also swimming, running through the sprinklers and water slides. Kids love the summer freedom and playful time. Oh to be a kid again to be off school for the summer! Remember that feeling?

I know you worry about your children who are affected by ectodermal dysplasia. You worry that they will overheat and become sick in the hot weather. You worry that maybe you won’t be there if they do overheat. You might tend to be “over protective” out of worry for their safety and keep them inside all summer.

Thus, they miss the opportunity to have “summer fun” with their friends and siblings. I certainly get the worrying part. It is a natural gift we mothers have, as I worried like crazy about my five kids as they were growing up. Sometimes a good thing; sometimes not so much.

OK, it’s time for tough mom and/ or dad love! Your children need to learn how to cope with the heat and it’s your job to teach them. They will grow up and go to high school aLisa Jonak Cory Jonaknd college. They can enjoy all of the sports and outdoor fun that their peers can, so let them.

There is an affected young man who is wrestling on the collegiate level. We know cr
oss country and marathon medal winners and champion baseball players. And of course there are those that aren’t the top players or medal winners but they are still champions!

Be on the side lines cheering them on with a case of water handy. They are affected by ectodermal dysplasias but don’t let it define who they are or what they can do.

The trick is to know  how to manage the heat but not to keep them inside all of the time. Wet their T shirts, give them squirt bottles and teach them to recognize when it is time to come indoors for a break.Set up a sprinkler in the yard and let them run and have fun. Make sure they always have a full water bottle. Keep your freezer packed with popsicles (my very favorite treat ). I am still a big fan of popsicles. Ask the NFED staff; I keep some in our office freezer.

Summer is the time to be young, have fun and make memories with friends. Let them be kids and enjoy summer, but let them enjoy summer with your entire family knowing all of the facts.081310-keegan-smile

Please take a few minutes to click on this link. Read the best ways to keep your “cool” kid cool in the summer. What do they say? “An ounce of prevention is worth a pound of cure.” And that is exactly the case for overheating in the summer.

Please read this information and share it with aunts, uncles, grandparents, the parents of your children’s friends, babysitters and daycares. Please call the NFED office with any questions.

Let’s be ready for summer and have a great one. It’s here and it’s going to be HOT!

Ok moms and dads, show your tough love and let your kids be kids. They will be fine, actually better than fine. They will be happy and successful in managing the heat.

Happy Summer!

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Understanding Genetics

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By Pilar L. Maroulas 
All ectodermal dysplasias are heritable or genetic disorders, which means that they can be inherited or passed on to children. However, it is possible for a child to be the first person in his or her family to be affected by an ectodermal dysplasia.

 

Chromosomes and Genes

  • The body is composed of billions of cells. Within the cells, are small thread-like structures called chromosomes. We have 23 pairs of chromosomes – two of each. We inherit one set from our mother and one set from our father.
  • All of the chromosomes together make up our entire genetic information and can be thought of as an encyclopedia or set of instructions for how our bodies function.
  • Chromosomes are like individual volumes of the encyclopedia set. Chromosomes contain all of our genetic information, in the form of genes.
  • Genes are the instructions that tell our bodies how to work properly. If there is a change in any of our genes, it may affect what that gene is supposed to do and may cause different health or medical problems.
  • Genes are composed of DNA, which are the letters of the genetic alphabet.
  • A gene is like a sentence in a book. If there is a change in any of the letters or if any of the words are missing, it will affect what that sentence was supposed to say.
  • Similarly, misspellings of any of the genes can affect how the gene works and may cause problems with normal health and development.

Genetic Variants

  • The ectodermal dysplasias are caused by changes or misspellings in our genes. These are often called “mutations”.
  • Many genetic changes are unique to a family. However, even in families and individuals who have the exact same spelling change (mutation), there can be variability in how the condition affects each individual.
  • Therefore, it can be difficult to predict, just based on the genetic test result, how the genetic change may affect a person.
  • Altered genes may be inherited from a parent, or normal genes may become altered (changed) at the time of conception.
  • It is important to remember that a person cannot choose or modify the genes that he or she has, therefore, there is nothing that parents did or did not do to cause these genetic changes to happen.

 

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Welcome Home!

By Sue Kluzek

I don’t know about you, but I am getting very excited about our NFED Family Conference this summer! It’s an exciting time for all of us. We (the NFED) are celebrating our 35th anniversary. We have new programming and a new format for some of the conference. It’s going to be great!

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Here’s our Goltz family from the Colorado Family Conference last year. Christina is wearing red in the middle.

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Jim, Sue, Jimmy and Christina Kluzek

This year will mark the 10th year for us, the Kluzek Family, since we became actively involved with the NFED and the Family Conference. It’s always so much fun catching up with old friends every year we attend.

We have all watched our children grow up together while we as parents stay perpetually young! LOL. It’s amazing to watch all of these children grow up to become wonderful, articulate young adults who can advocate for themselves and their siblings. It makes me so proud of our Family Conferences because they have played a part in making this happen.

I can still remember coming to our first conference in St. Louis in 2006. Jim and I were scared, apprehensive, nervous, and excited. We were finally going to meet people who had the same issues as our family. Well, we sure did!

One of the first families we met was the Olsen family. Our daughters, Christina and Jade were the same age and both had Goltz syndrome. This was an amazing moment for our family.

We discovered that our daughter was not the only one affected by Goltz syndrome and we made lifelong friends. We discovered that we were not alone.  We met many other families that year but since it was our first conference, it was all a blur.

The most exciting conference we ever attended was in Houston in 2013. We had the opportunity to gather with at least 17 other families affected by Goltz syndrome. This was truly amazing. What a difference from our first conference when there was only one other family.

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Jimmy Kluzek (back row, third from right) has  made his own group of friends, too, at Conferences.

Over the years, we have gotten to know many of these families better and now I feel we are all one big NFED family. Both of my children have made forever friends through the NFED Family Conference.

My only regret I have from our first conference was, we didn’t take any pictures. We never even thought to bring our camera and this was before we owned a smart phone. Thank goodness for Jodi and her trusty camera!

Since then, we have attended conference almost every year. We have met so many wonderful families and made a ton of friends. Over the years, we have gotten to know the amazing NFED staff and all the fabulous doctors and healthcare providers. We consider all of them part of our family now. We are so blessed to have so many great people in our lives – all because of Family Conference.

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Jim Kluzek prepares Family Conference packets.

Through the years, Jim and I have become more involved with the NFED. We have had various fundraisers at our schools and hosted a regional conference in Chicago.

I have been on two previous Family Conference committees, and even our son, Jimmy, has been on a family panel at conference. Our family wants to give back to the NFED and help other families, too. We want all new families to find the same kinship and comfort we found.

I couldn’t have been more honored and excited when I was asked to chair the 2016 conference. I want to make a positive impact on my fellow attendees. I hope we deliver the programming that all the families are looking for and the social opportunities for the parents and kids to connect with each other.

Our Family Conference Content Committee (Kelley, Rachel Buerman, Kris Steele, Dr. Tim Fete, and I) spent many evenings discussing the numerous things our families have requested for conference topics. I believe we developed an interesting and comprehensive program.

Then, our Family Conference Planning Committee was formed and together, we are making the magic happen! First, Lisa Jonak found our hotel in Chesterfield. Then, we have Kristin Matus-Kelso planning the teen activities, Bethany Richter planning the kids’ activities, and Kris and Lindsey developing the marketing plan.

Jean and Jenny are working on endless details.  I am working with the childcare and bus companies.  Jim is assisting with hotel meals and logistics.  And of course,

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Christina Kluzek (second from left) enjoys meeting other girls with Goltz syndrome each year at the Conference.

our fearless leader, Kelley, is guiding us through the whole process.

So, with everyone’s hard work, this is going to be an amazing conference! I hope you can all join us this summer and be a part of this wonderful experience. It’s going to be fun and informative for all.

I can’t wait to see all the veteran families and reconnect. Most of all, I am looking forward to meeting all the new faces joining us this year. It will be so nice to welcome them into the fold and see our NFED family grow. I really hope you can “Meet Us in St. Louis!”

 

 

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Similar, But Unique

My name is Aaron Aselage. My father, brother, and of course, myself, all have ectodermal dysplasia. To say we had it rough as children is an understatement. Each of us had similar issues, but we’re also unique. 

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For Aaron Aselage, ectodermal dysplasia runs his family.

For instance, my brother had a more intensive surgery than myself in terms of cleft palate and dental work, whereas I had more difficulties with hearing and other skin issues. My father was adopted, so discovering this syndrome was a challenge back in the late 60s-early 70s.

When my mother and father discovered I was affected way back in 1991, my father reached out to his biological mother. When doing so, he found more answers that became helpful in determining what to expect.

I can empathize and sympathize with anyone/everyone going through the surgeries and the troubles that come along with being affected by  ectodermal dysplasia.

With that said, I know most parents would agree that it’s also hard watching an individual go through some of the procedures. With caring health professionals and a supportive family, anyone can make it through and have a wonderful life no matter the circumstances.

I’d honestly love to hear back from others out there. I’ve personally never heard from anyone or met anyone else that has this in common. Please, ask me questions and don’t be afraid to contact me by commenting below.

 

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