All my life I have had to deal with hospitals, appointments and tests, it’s just the way life is. In some ways I feel it has made me stronger. I don’t freak out over the tiniest needle or worry myself sick over routine check ups. There has never been a stage in my life where I haven’t had a consultant to see for one thing or another. I just don’t know what that feels like. If anything it scares me. I like to know what’s going on with my body. And I like knowing that if there ever was something really wrong, then it would probably get detected early on. I definitely hope so anyway.
When I was about ten years old the hospital wanted me to see a Genetic Counsellor. This was to see if there was a genetic reason why I kept having health problems, or if there is anything that links them all together. I don’t remember much of the process because I was so young. But they did discover that I have something called Oculo-facio-cardio-dental Syndrome (OFCD Syndrome). This syndrome can affect the eyes, face, heart and teeth. There is a long list of medical conditions that you can get because of this syndrome, but you don’t necessarily get all of them. It’s a bit like lucky dip really, but it does get worse the further down the line it gets. So each generation seems to get a few more problems than the last. This is quite a scary thought, where will it end? I guess it will come to somebody one day saying I don’t want children because they will suffer to much. But I think that is quite a long way off yet. Maybe one day there will be some kind of treatment to correct the cause of it. The cause of it is all very technical and I won’t even try to explain. But all of the information is on the two websites below.. At the moment I have absolutely no idea if there is any kind of treatment, but I have not heard of anything. Amazing things happen with medical science these days though, so you never know. In the future there could well be something. Only females get OFCD. It runs in families, but statistically less than one in a million people have it, therefore it is classed as a rare disease. So I am quite literally one in a million! 😀 I should also mention that not every female in the family is guaranteed to have it. Some do and some don’t. My family didn’t know about OFCD until I was diagnosed. And we know in our family who may have it and who hasn’t. As I am the youngest in our family to have it, I have had the most symptoms and related health issues.
Here is a bit of information about how OFCD affects me.
Oculo – Eyes
Having small eyes is one of the symptoms of OFCD. Because I have small eyes, the pressure inside my eyes gets to high. This is a condition called Glaucoma. I was diagnosed with Glaucoma when I was around thirteen years old. It is commonly known as something that the elderly get, but it can run in families and I did get it particularly early. The pressure was kept under control for quite a few years with eye drops. The drops then stopped working which lead to me needing surgery. I had a tiny drain put in my eye which helps to drain the fluid away and lower the pressure. As the drops had stopped working the pressure had been constantly increasing which caused damage to the optic nerve. When this happens some of the sight gets lost. Unfortunately the damage is irreversible which means my sight loss also was. The surgery was to stop me going completely blind. At the moment I would say I’m a happy medium, my sight could be a lot better, but it could also be a lot worse. And I am extremely grateful for the sight that I do have. I also have no vision at all in my right eye. I don’t ever remember seeing through two eyes. The thought of it sounds quite freaky actually!
Facio – Face
This part is more about my facial features. My eyes are quite deep into my face and my nose is long, narrow and flat compared to some. These don’t cause me any problems, they are just how my face is formed. I also have a small mouth even though some might say a lot comes out of it! 🙂 The roof of my mouth is also very high and narrow.
Cardio – Heart
I currently have none of the heart symptoms, that I know of. Let’s hope it stays that way.
Dental – Teeth
Thanks to this wonderful syndrome i had a lot of dental work done growing up. I more or less lived at Charles Clifford Dental Hospital in Sheffield. My baby teeth were very slow at coming out. Only one tooth came out naturally. I had three taken out at the dentist, then another four, then I had to spend the night in hospital to have eleven taken out under a general anesthetic. I went to secondary school with most of my baby teeth which made me great to laugh at by the bullies. While removing the teeth they discovered that the roots of my teeth were very long and my jaw bone was very hard which made the teeth very reluctant to move. They exposed my adult teeth and stuck little gold chains to some of them to help weigh them down so that they would grow. When they finally had grown I had to wear a brace and little rubber bands to align my jaw properly. I was biting with my bottom teeth over my top teeth so the pull of the rubber bands helped to move my jaw in the right place over time. I had two bands attached to little hooks on my brace. One that stretched from top left to bottom left, and top right to bottom right. I could remove the bands every so often for eating and cleaning my teeth. But the longer I worse them, the better. I had the brace until I was eighteen years old.
Other Symptoms
There are also some other symptoms which don’t really fit under any of those catagories. My second and third toes on both feet are kind of joined together, or webbed. I am unable to straighten my second toes, they are just made bent. I also have an underactive thyroid.
People have asked me before if having this syndrome scares me because of all of the problems I could get. The way I see it is that anybody can get those problems. They are not exclusive to OFCD. With or without it things happen. So I am honestly no more scared than anybody else. Having OFCD has definitely had it’s challenges and at some point there may be more to come. But it hasn’t exactly ruined my life, nowhere near. As it gets worse through the generations, it does worry me how unwell our family could be, in five or six generations. It’s a scary thought. But for now, for me, it’s just something interesting to blog about! And it’s a reason why things have happened. People often feel worse when something has happened for no reason. At least I will always have that reason and it may help me to notice when something isn’t right. I really hope that our family does carry on growing even with OFCD. Because going through tough times can help you to appreciate the good things. So enjoy life the best you can, make memories that matter, and love the people who love you. ❤
Here are two links with more information.
As OFCD is so rare I would really like to hear from anybody else who has it. So please do get in touch either with a comment on here or on my social media pages. Thank you.
Update 09/05/2020
I have just thought of something that I did not write on this post originally. If you are not already aware, there is a Facebook group for OFCD Syndrome. This is not a group that I run, but some of you may find it useful. The button below will take you to the group.
xx ❤ xx
Glitter In The Darkness 