Seeking the Solution to Dry Eyes – Part 2

By Bracee Dudley

Read part 1 of Bracee’s story here.

After attending a session about PROSE lenses at the 2014 National Family Conference, Bracee and her parents wondered if this was the solution they had been seeking…

A fishbowl for your eyes!

The benefits of using the BostonSight®  PROSE (prosthetic replacement of the ocular surface ecosystem) contact lens include reduced dry eye symptoms, improved vision by sharpening irregularities in the cornea, and protecting the cornea from the outer environment including the eyelids.  In some patients, even the eyelids could scratch the corneas themselves.

Overall, these new contact lenses that the corneal specialist in Indianapolis didn’t know about seemed to be the remedy for my eternal photophobia and eye problems. The question was, how was I to attain it?

Bracee with marc and jack

Bracee met Marc and Jack at the conference.

From Indiana, the closest PROSE provider was the Wilmer Eye Institute and Dr. Michelle Hessen at John’s Hopkins Hospital in Baltimore, Maryland. We set out to get a referral from my local ophthalmologist. By the time that was done, we had gotten a response from Dr. Hessen who was on maternity leave for a few months and wasn’t going to be scheduling appointments until mid January.

I had to wait an entire semester until I could receive the panacea for my eyes, and that was definitely a tough wait. By the time mid-January rolled around, we still hadn’t completely transitioned to the insurance that would have covered much of the cost of PROSE (which was estimated to be about $11,000). Because we were unsure of the insurance, we had to push the appointment back even further, to late February.

Frustration ensued, but schoolwork and extracurriculars kept me occupied until we could finally schedule our first appointment for February 23, 2014. By then, we were officially under insurance that would cover much of the cost. (Editor’s note: With insurance coverage, the Dudley family paid less than $2,000.)

The night before we left was very stressful. The “second annual polar vortex” of the Midwest and Eastern United States had blessed Indiana with much snow, enough for some snow days around that time. The night before I remember really hoping and praying for it to hold off for one day so my dad and I could drive the ten hours from Indiana to Maryland, where we were to stay with Marc Steingesser and his family, half an hour outside of Baltimore. I knew that if we were unable to leave that Sunday morning, then I would be forced to wait until APRIL to get another appointment. That just could not happen. NO way! I remember thinking the potential snowstorm that was so iffy was symbolic of my never being completely sure of what I was seeing, always being blinded by the white and the light.

By a miracle, we were able to leave that day. When we got there, Marc and his family welcomed us with open arms into their wonderful home and we got settled in. Marc had gone through the process of getting PROSE several years before, and although he prepped me the night before and the morning of the first appointment, I still felt unprepared for what was to happen the next morning.

PD_plunger_being_filled3___BT_WM_L__20130111

The PROSE lens is filled with saline solution before insertion. Click on the photo to visit the official PROSE site.

Bright and early on Monday morning, we arrived at Johns Hopkins Hospital and met Dr. Michelle Hessen and the PROSE coordinator, Michelle Ricks. The first two to three days of appointments comprise the “getting over the hump” phase. As the process normally goes, Dr. Hessen starts with a default size of contact lens with no prescription in it, in order to ensure that the patient is able to get it in and out with minimal issues. The patient has to get into a fairly uncomfortable position of chin touching chest, looking all the way down and holding the bottom lid open. The doctor then puts in the solution-filled contact lens in the eye that continues to look downward. The lens stays on by suction from the saline. However, due to the corneal reflex of the eye that physically reacts to the stimulation of the cornea (such as insertion/contact with foreign artifacts, sudden bright lights, etc), the eye tends to roll upward, making it difficult to insert the contact lens.

The PROSE lens is inserted and removed with the help of a small plastic plunger, shown here. Click on the image to learn more.

This happened to me many more times than I’d like to admit on the first day. As time when on, even when we switched eyes in attempt to at least get ONE lens in, the reflex only got stronger, and my frustration grew. Anxiety arose, along with invading thoughts about giving up.

Maybe I wasn’t good enough for it, maybe I couldn’t do it. Maybe I didn’t deserve it. Hmm. Yes, that was it. Of course I didn’t deserve it, of course I wasn’t to get it, because in the past doctors have confirmed limited options for me and all the EEC symptoms That was just the way things were, the way life was. Life isn’t fair, and all I can do is accept it. A person like me, with a face like mine, maybe just in this moment in time the opportunities for me just weren’t available yet.

This toxic wave of negative self-talk was overwhelming as were the tears of frustration that accompanied it. The day was done, and progress wasn’t made. Mondays will forever be the bane of human existence.

Tuesdays are usually better, right? I got one of them in, and that was it. I felt a little better but still kind of worse, due to the “I was SO close” feeling that also hit me. I didn’t understand what was wrong, why couldn’t I just think to myself like Nike, Just Do It, and then do it?

Sadly, it wasn’t that simple.

TO BE CONTINUED…

Editor’s Note:

Bracee Dudley is a high school senior who is affected by ectrodactyly ectodermal dysplasia-clefting syndrome (EEC). She is contributing this three-part series on how she learned about PROSE lenses and her journey to obtain them and find relief for her debilitating dry eyes.

Learn more about the BostonSight®  PROSE at the Boston Foundation for Sight web page: http://www.bostonsight.org/PROSE-treatment/About-PROSE

Stay tuned to the blog for the conclusion of Bracee’s story!

 

Howdy!

By Susan Hamm

Susan and Zach in San Francisco, CA Mother & Son 2015 Summer Trip

Susan and Zach in San Francisco, 2015

I’ve always been the type of person to volunteer for projects or causes I was passionate about and the NFED was no different. I attended my first Family Conference and came home with an overwhelming amount of information on this syndrome that I had barely learned to pronounce.

After processing what I had learned, I wanted to know more. I wanted to do more. I became a Family Liaison so that I could help families near me connect with the NFED, give them as much information as I could, and provide advice or share my experiences. I had been “that mom” who had never even heard of ectodermal dysplasias before my son was born. I wanted to help other parents that might not otherwise have help or know where to find it. By doing so, I met so many wonderful people, many who feel like family.

Zach has his driver's permit and is a sophmore in High School.

Zach has his driver’s permit and is a sophomore in High School.

Several years ago when Edimer’s Newborn XLHED Clinical Trial was just in its planning stages, I thought to myself, here are people who have the knowledge to possibly change the lives of people affected with ectodermal dysplasias. I realized that I didn’t have that capability but I could do things within my skill set to help this cause.

My family and I discussed how we could help make a difference. Since my son Zach and his dad, Paul, were golfers, we decided to host a golf tournament benefiting the NFED. It took some planning and enlisting help of neighbors and friends. But anything worthwhile takes work. We hosted four successful “Zach Hamm Don’t Sweat It Golf Classics” that raised close to $150,000 for the NFED. We accomplished this just by running the tournament from our kitchen table.

Baseball Journey Fundraiser

In addition to the Don’t Sweat It Golf Tournament fundraiser, “My Baseball Journey” was written by Bill Brown. Zach was his inspiration and all proceeds were donated to the NFED.

The Family Conferences are such a wonderful way to meet other families, gain knowledge and experiences and share. So, when the NFED asked for families to help plan the conference, I volunteered and I have been on the planning committees for the last four conferences. It’s such a great feeling to have people from all over the world attend an event that you helped plan and watch them enjoy themselves, gain knowledge and empowerment.

I’ve done all this volunteering while having a job and giving my time to other organizations as well. I made the choice to make time to make a difference. Volunteering with the NFED has made me feel as if I have helped make a positive impact on the organization and hopefully made a difference in someone affected by ectodermal dysplasias. I wanted to give back to the organization that gave me hope. You can, too. Everyone has something to contribute. The NFED is what we make it!

Memory Booth TX

Editor’s Note:

Susan Hamm lives in Spring, Texas. Her son Zach is affected by ectrodactyly ectodermal dysplasia – clefting syndrome or EEC syndrome. Susan is the Family Liaison for Texas.

Would you like to volunteer with the NFED? Email Lea Richardson, NFED manager, community engagement, at lea@nfed.org or call her at 618-566-6871. You can also learn more about volunteering on our website .

Seeking the Solution to Dry Eyes – Part 1

By Bracee Dudley

Bracee and Brighten

Bracee and her sister Brighten

In my freshman year of high school, I was unfortunate enough to have scratched my right eye and create a corneal ulcer, which is an open sore in the outer layer of the cornea. Thanks to frequent visits to my local ophthalmologist, I obtained antibiotics and was soon able to see semi-comfortably again.

However, it was discovered that I had corneal scarring in both eyes, which left me with extreme photophobia (light sensitivity) and keratoconjunctivitis sicca (chronic dry eye). My symptoms included irritation, redness, a constant feeling of having something in my eyes, and major discomfort.

During school, light sensitivity (plus your usual high school sleep deprivation) would impact my attentiveness in class, especially during the earlier classes. I couldn’t see many PowerPoint slides, especially those with limited contrasting colors and small font.

bracee and riends

Bracee with friends

In the morning I would wake up with “eye boogers” all around the lids and usually be picking them out of my eyes during classes. If I was extremely tired and my eyes were really bothering me, sleeping during class wasn’t out of the question. If I was awake, many times I had to physically move closer to the board to see anything. The excessive tearing of the eyes caused by irritation would also lead to an intensely runny nose, which I could even predict which class periods would flare up. It was terrible when the classroom lacked tissues. Somehow through all of the suffering, I was able to maintain a 3.0+ GPA at one of the top schools in the state of Indiana.

Bracee_DryEyes

Bracee with friends from school.

Although I had a high pain tolerance and kept the complaints to a minimum (at least during school), the symptoms of my eyes were definitely something to take action on. Seeing the local ophthalmologist every so often, my eyesight was sufficiently decreasing and I was increasingly going blind (a bit of an exaggeration, but that’s how it felt). Due to the dry eyes and scarred corneas affecting the state of vision, getting an accurate refraction to create a prescription for glasses was nearly impossible. Even seeing a corneal specialist in Indianapolis didn’t seem to help. The common refrain was, “I’m sorry, but we can’t do much about it”.

Bracee and friend at conf

Bracee with a new friend at the 2014 NFED Family Conference in Columbus, Ohio

Finally, after receiving mail from the National Foundation for Ectodermal Dysplasias, my mom decided we should give the National Family Conference a chance in hopes of finding other options. When we arrived in Columbus, Ohio in July of 2014, my mom was very impressed with the welcoming atmosphere and the vast expanse of information available regarding any and all symptoms of the various types of ectodermal dysplasias. She and my father attended an informational session regarding dry eyes, dragged me along, and it was there we discovered PROSE.

BostonSight®  PROSE (prosthetic replacement of the ocular surface ecosystem) is a large contact lens constructed out of gas-permeable plastic that allows oxygen to the eye. It is more concave than usual contact lenses, which allows for the lens to contain a reservoir of artificial tear drops/pure saline solution to lubricate and moisturize the eyes all throughout the day.

Could this be the solution to my painful, dry eyes?

TO BE CONTINUED…

Editor’s Note:

Bracee Dudley is a high school senior who is affected by ectrodactyly ectodermal dysplasia-clefting syndrome (EEC). She is contributing this three-part series on how she learned about PROSE lenses and her journey to obtain them and find relief for her debilitating dry eyes.

Learn more about the BostonSight®  PROSE at the Boston Foundation for Sight web page: http://www.bostonsight.org/PROSE-treatment/About-PROSE

Stay tuned to the blog for part two of Bracee’s story!

Other Blogs Posts About People with EEC

Meet the Kelsos and the Huxmans!

It was Time that I Stop Ignoring the Thing that Made Me Most Unique

She Was One of the Founding Families as a Toddler in 1981. Today, She’s an Advocate for the Community.

How Could I Make a Difference?

Gina Quintanar 2014 Head Shot 72 By Gina Quintanar

When my son was 10 years old, he attended his first NFED Family Conference. I will never forget walking in the door that first day.

Alex and his friends at FC in CO

Alex Quintanar in the middle: The Three Musketeers. With Sam Hicks and Jordan Jaundoo.

I felt like for the first time since he was born, I could take a deep breath. I felt like I had come home to a place where there were people who knew what ectodermal dysplasia was about and what it was to raise a strong-willed child who just wanted to not be stared at and to be treated like any other kid.

The first thing I noticed was that no one was staring at my son. At that point in our lives we had never met anyone with ectodermal dysplasia in person. I would show him pictures of Charlie Richter on the NFED website and the life he had being a farmer working outside – even on hot days!

I promised we would try to meet him one day. On that first day at the conference where my son first met kids that looked like him, he also met Charlie RIchter!  My son is now a senior in high school and can still describe the sights, sounds and feelings of that first conference.

Chance Auction Volunteers CO

Chance Auction Volunteers

So why do I help fundraise for the NFED? I help so other kids can feel what my son felt, or so a mom can find her strength and realize she is not alone.

Making that first phone call to the NFED and hearing the calm, friendly voice on the other end of the phone telling you that, yes, they can give you information that you can show your doctor so they can better treat your child and understand what ectodermal dysplasia is about.

Or, yes, they do know of a dentist who knows about ectodermal dysplasia.  Maybe it’s as simple as I am going into my first IEP or 504 meeting at my child’s school and I need support, information or just someone to tell me it’s going to be ok.

Chance Auction

We had over 125 Items at our Family Conference Chance Auction Table in Colorado Springs, Colo.

When the idea of fundraising came up, I jumped on it because I wanted to give back to an organization who has given so much to my son and to my family. I always thought, I would if I could, but my husband and I don’t make much money so I didn’t have the money to donate.

So what could I do, how could I make a difference? I chose to make a difference by becoming a Family Liaison so I could be that supportive listening ear for someone else and running the Chance Auction at the Family Conference to raise a little money along the way.  Hopefully through these things I can help the NFED be around for many years to come.

Editor’s Note:

Gina Quintanar is the Family Liaison serving families in Southern California and Hawaii. She and her husband, Luis, can be found happily lending a hand at the Family Conferences. Gina and her family live in Burbank California.

Would you like to volunteer for the NFED? Email Lea Richardson, NFED manager, community engagement, at lea@nfed.org or call her at 618-566-6871. You can also learn more on our website about volunteering.

Other Blog Posts:

Volunteering for the NFED is My Opportunity to Give Back

Ronan, Our Unborn “Celtic” Legend… What a Shock and a Joy!

Volunteering for the NFED is My Opportunity to Give Back

By David Sanmiguel

David's phone Volunteer Blog

Alicia & Luna’s New Smiles!

The NFED has been a very important part of my family’s life, since the day my daughters were diagnosed. The moment my family and I became members of this great organization we only received good things, along with a warm welcome, understanding, help, information and great times.

Simply put, everything has been wonderful. Our daughters’s smiles tell it all. These smiles were made possible by generous donors who donate relentlessly to the NFED to create smiles like these!

David SanMiguel II

Mom Ana with the twins

I have been involved in volunteering with the NFED for years, and have always found a way to make time for it. I volunteer because I find something incredibly satisfying about acting in a way that is consistent with my principles. Being able to say I helped to better something in the lives of others makes me feel wonderful.

My wife and I have translated two of the NFED books into Spanish: Lionel Learns What Matters Most and Carver’s New Smile. We are in the process of translating additional material into Spanish. Every little bit helps to spread awareness.  We will continue to support the NFED by helping in any way we can.

David SanMiguel

Dad David with the twins

Volunteering for the NFED is my opportunity to give back. It is a reminder that our lives were put here, together, and we need to remember to support each other. Life has so much to offer. We just have to remember to look beyond ourselves.

I am an NFED volunteer because I want to give back. It’s as easy as that. If I can do something to help those who helped me, why wouldn’t I?

Editor’s Note:

David Sanmiguel and his wife, Ana, are the proud parents of twin girls, Alicia and Luna, who are both affected by hypohidrotic ectodermal dysplasia (HED). The family lives in Orlando, Florida.

Would you like to volunteer for the NFED? Email Lea Richardson, NFED manager, community engagement, at lea@nfed.org or call her at 618-566-6871. You can also learn more on our website about volunteering. 

Other Volunteer Stories:

Support Each Other – We Are Family

She Was One of the Founding Families as a Toddler in 1981. Today, She’s an Advocate for the Community