Our one-of-a-kind EB Connect community is made up of individuals and families from around the world who are navigating life with EB. The EB Connect Spotlight series highlights these individuals and their unique stories. Today’s spotlight shines on 2-year-old Ella who lives with EB Simplex, told in the words of mom Aimee Suchocki

This is her story…  

Ella was born at 35 weeks old on August 31, 2018. She has a twin sister named, Aleksandra. She was very healthy and weighed in at 5.6 lbs. There were no signs of EB or any skin condition; she was perfect.   

At our one-week check-up, the pediatrician noticed some scabbing on her heel and ankle. Since she was a preemie, she thought it was due to delicate skin. At about three weeks old, she developed a blister between her toes. And then there was another. Nothing for nearly a month after that, again the pediatrician didn’t think anything of it. At just about two months old, she had rubbed the skin raw on the back of her head. The pediatrician said that this can happen since they spend so much time sleeping.   

Something just wasn’t sitting right with me, so I took her back to the doctor when the spot got larger and she had a few more blisters on her fingers this time. The doctor ended up calling me that evening and said that she had something called, Epidermolysis Bullosa. He wasn’t sure as he’d never seen it. He sent us to a local dermatologist.   

Needless to say, that doctor, who was near retirement, had never actually seen a case, but was pretty sure that’s what Ella had. At this point, she was developing blisters in her diaper area as well.   

As a first-time mom, not knowing anything about this and not having anyone here who could help me, I began to panic. I read up on everything I could find to help me to understand what might be going on with my daughter. I decided not to return to my teaching position.  

That’s when I came across DEBRA. I made the call and was able to talk to a wonderful nurse, who’s name escapes me, and I’m so sorry about. She was able to direct me to where there were some EB Clinics and experts who could help. We were sent a large welcome box with a variety of products to use. Again, I didn’t know where to begin. I was also connected with a medical supply company.   

They were extremely helpful as well. I talked to someone who has been supplying patients for years with EB and hooked us up with what he thought we could use.   

We were also directed to get genetic testing to find out what type of EB Ella had. We literally have no history of any skin conditions in either my family or my husband’s. Things that I had been reading talked about decreased life span, major infections, webbing, loss of digits etc. I was heartbroken, scared, angry, and just totally feeling helpless.   

We finally got a diagnosis of EB Simplex Generalized Severe. We got that official diagnosis when she was about 4 months old. At this point, Ella had developed blisters in her mouth at the base of her tongue where the bottle nipple hit it. She was starting to refuse to eat. She was fussy and throwing up a lot. Again, I called the nurses at DEBRA and they directed me to try to make an appointment with an EB clinic. I called CHOP and Cincinatti. Both had waiting lists that were about one year out.  

However, I was able to talk to a nurse at CHOP who advised me to grease the nipple of her bottles and use magic mouthwash to help numb her mouth. We also got a prescription for an antacid. Those things seemed to help, and she was back to eating almost normal again.   

We finally went to Cincinatti when Ella was 18 months old. We were hoping that we would meet doctors who just tell us what to do, what to use, how this will look as she gets older, what we can expect, what her life be like…all the questions. And we didn’t get very many answers. One of the worst parts of this condition is how is presents differently for each patient. There are some common traits of course, but for the most part, what works for one might not work for the other. What worked last month, might not work this month. It is the most frustrating feeling in the world, not knowing how to help your child feel better and get better.   

Ella began to walk on her own right around this time. It was a moment I wasn’t sure would happen as quickly as it did. Once she started walking, the blisters on her feet began to get worse. We have been fighting that battle now for nearly 8 months or so. One spot gets better, and the next spot gets worse. She can’t seem to catch a break.   

She is one determined little girl. I think having a twin who can run, climb and jump motivates her to push through her discomfort and pain. She walks with a little old lady shuffle and when she has had enough, she asks to be held. Some days she can’t put on her shoes, other days she will walk more than I would like her to. She climbs up the ladder to the slide and loves riding in the tractor with her daddy. She loves all creatures great and small, especially owls.   

When I go through our nightly routine of blister popping and removing of dried skin, I am simply in awe of my daughter. I have always explained to her what I’m doing and why. Just recently, she has started telling me what tools to use. I’m assuming because certain ones hurt less. She has also started to let me use the needle to pop without a fuss. It’s like she knows I’m trying to help her. Even after all the pain I put her through each and every single night, she still hugs and cuddles and kisses me.   

My husband and I just want her to live the life that she wants to live. We want her to be able to do what she wants and not let EB get in her way. We want her to love and to be loved by people who understand and appreciate what she goes through on a daily basis. Of course, we both hope that she gets milder in time. That will be able to feel some sense of comfort at some points in her life.   

I want people to know that being a mom to someone with EB is NOT easy. There isn’t a day that goes by that I don’t think that this is a terrible nightmare that I hope to wake up from. Or, place blame on myself for not knowing how to help my child better. I’m the only one who knows how to care for her skin and I never get a day off. It’s harder than I ever thought. But hearing her laugh and screams of joy and the smile on her beautiful little face make me thankful for her and I can’t imagine life without her. 

Thank you, Aimee & Ella, for sharing your story! You can connect with Aimee by sending her a message or find her in the EB Kids Corner and Simplex Groups. 

If you would like to contribute to the EB Connect Spotlight series, please send a private message to Aigerim

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