Living with EEC syndrome

Hello everyone, my name is Sibela, I'm 17 and I suffer from EEC.

Written by RareConnect team, published 16 days ago.

I was born on December, 4th 1996 in Tuzla (Bosnia and Herzegovina). War had ended roughly one year before.

At birth, my apparent malformations were: bilateral cleft lip and palate, syndactyly of the right hand and of both feet.

Because of the lack of structures and of competent doctors in my country of origin, it was impossible to get a precise diagnosis; they could just tell that the malformations were probably due to a genetic disorder.

For this reason my parents took me to Italy where, at the age of more or less eighteen months, I was diagnosed with EEC at Ospedali Civili di Brescia (Brescia Hospital). There, during my first years of life, I underwent various operations, mainly to my mouth and hand. My soft palate was closed, my upper lip reconstructed, my syndactyly was fixed as far as it was possible, etc.

Even if I was born with healthy eyes, at the age of two years and a half I started closing my left eye and feeling some sort of irritation to both eyes; the sun bothered me, I felt like something was pricking my eyes and I started closing them more and more.

But in that period nobody was able to explain why that happened, so they tried to do what they could. As to my eyes, I went to Schio (in the province of Vicenza, in Italy) where I was operated to my tear ducts. I was monitored for some time but then it was difficult for me to find an ophthalmologist who was also familiar with my syndrome and able to take care of me in the appropriate way. Meanwhile, I started having some problems to my right ear; there was a lot of pus and bleeding; sometimes I couldn't hear properly. Therefore I was operated for the first time in 2004, again at Brescia Hospital, but the surgery didn't succeed as expected. Then I changed otolaryngologist and I was told I had a perforation of the tympanum and they believed I had a cholesteatoma.

Two years ago I was operated again and this time the surgery succeeded. Generally speaking, I can hear less than "healthy" people do, because my syndrome has affected also my hearing ability but, all in all, now I just have to undergo periodic tests and be careful when I take a bath or when I go to the seaside, to prevent large quantities of water from entering my ear.

As my bladder is too little, I have to go to the toilet very often during the day. This is not a huge problem, apart from when I'm travelling and I may be obliged to refrain from urinating.

Then some skin problems arose too. As I suffer from acute dermatitis, I have to keep applying specific creams because my skin is very dry and it becomes very easily irritated. Besides, I have poor hair growth.

I'll still have to undergo surgery for the correction of facial bones, teeth implantation and other plastic surgery operations, which I hope will soon be planned in Bologna, where I'm treated for these issues.

Even if my sight has worsened considerably, my left eye is quite well conserved and I can see 8/10, so I don't have big vision problems and I could attend kindergarten, primary school, junior high school and the high school - which I'm attending right now.

I've always had friends; teachers have never discriminated me, nor treated me in a different way. Despite difficulties, I've become independent and I can do everything that normal people do.

Luckily I've never had "dark" periods, I've never been bullied, and that helped me not to suffer too much emotionally and psychologically. But unfortunately not all persons affected by a rare disease can say the same thing.

I think that any person, born with a rare condition, faces his/her situation in a different way, and this can depend a lot on our nature but also on our entourage and our family.

More or less two years ago, I came to know about the existence of the EEC p63 syndrome association and I met Giulia Volpato, an incredible girl who suffers from ECC just like me. Thanks to the help of her mother and other volunteers, she created this meeting and support point for people affected by a rare disease like us.

With her association, Giulia makes a great job: they try to encourage communication on these diseases, they help us find competent doctors who are familiar with our syndrome and give us the information we need.

Thanks to them, researches on stem cells are being carried out to find out a solution to the degeneration of our lives and, again, thanks to them now we can concretely hope that our biggest problem one day will be solved! I think I've been lucky to meet her and also that the existence of such associations is vital to support patients and their families.

Living with a disease is always difficult; living with a rare disease is even more difficult because there is no specific treatment and we have malformations and problems that will remain for the rest of our lives. Unfortunately, as we are just a "minority", many people - physician included - seem not to be interested in our condition and often society doesn't make our everyday life easier. But if we commit ourselves and cooperate, if we make our voice heard, we will be able to produce concrete changes and ensure ourselves a life that is worth living!