Vision is one of the most taken for granted, vital senses we have. Living life in total darkness is our worst fear. Most of us are luckily born with full, healthy sight and never think about how truly amazing and important it is to us.
Some people are born with none and never know any different yet live happy fulfilled lives and even get numerous degrees and top jobs.
Some people are born with hereditary eye diseases that until they reach a certain age are not aware of and will cause mild disruption, pain and frustration yet continue to live their lives without anyone noticing or being aware.
Lets face it, if someone is walking round bleeding or with their arm back to front, It's a given there is something wrong. Then there are the silent sufferers of diseases and conditions that nobody can see and may never know you have.
This blog is intended to give you all a little insight and awareness into eye conditions that my partner and two son's have and maybe make people think a little and understand what goes on behind the scenes, how it effects our lives and what they go through each time their condition 'flares up'.
I will try and include as much factual based evidence as I can that I have pulled from the Internet but mainly include our personal experiences. Each sufferer presents symptoms differently than the other.
Get on with It I hear you sigh, that I shall!
Some may never suffer and the disease may lay dormant but could appear at any time.
My husband and 13 year old son suffer from Lattice Corneal Dystrophy. This has 3 types and each type is unique and strikes at different ages. Their unique type is type1.
Type1 in easy to use language, manifests from a mutation in the gene and is hereditary but sometimes skipping a generation, however a family of sufferers will most certainly carry on the gene through many of the generations. (will explain symptoms later on).
My husbands sister has the dystrophy yet her son does not. We are yet to find out if his 3 children have it.
When a sufferer has a detailed eye exam the examiner will see comma-shaped deposits, overlapping dots and branches creating a lattice effect. Over time the lines will grow opaque and more of the stroma (supportive tissue of the epithelial) will be involved. Gradually the cornea will become cloudy and effect vision, reducing the strength and clearness. This disease is bilateral (effects both eyes) and is usually detected before 10 years of age. Although this particular type of dystrophy can occur at any time of life, the condition usually arises in children between the ages of 2 years and 7 years.
(Information gathered from http://en.wikipedia.org/wiki/Lattice_corneal_dystrophy )
One of the early signs in our son's began from as young as 6 months manifesting in recurrent eye infections and the slightest thing to irritate the eye would result in an abrasion or ulcer. My husband however only presented with symptoms in his very late teens. Our 13 year old son had his first ulcer the week of his 8th birthday confirming the consultants diagnosis.
Our youngest son who is 8 years old has been diagnosed with a different type of dystrophy in his eyes. This is called Map Dot Fingerprint Dystrophy Also known as basement membrane dystrophy (sounds like a band name!). Although he gets regular abrasions on his eye his vision will not be impaired yet he will get more of them and will be extremely painful. He does not get ulcers, and does not need to 'scratch' his eye to get an abrasion, they can and often occur after or during a common cold or general illness. Map dot gets it's name form it's unusual appearance of the cornea during an eye examination. Most often the affected epithelium will have a map-like appearance for example, a large slightly grey outline which looks like a continent on a map. There may also be clusters of opaque dots underneath or close to the map-like patches.
(Information gathered from http://wuphysicians.wustl.edu/page.aspx?pageID=523 )
Any sufferer of a dystrophy is said to have 20 times more sensitivity on their cornea than any non sufferer. I guess this to some degree has made me obsessively protective over them when they are just playing, or if partaking in sports even in daily life such as school/work.
When any of them get an abrasion or ulcer it often leads to a minimum of 3 days off work or school, to a maximum of 7 days. This is dependant on the severity and size of the abrasion or ulcer. Sometimes for a Lattice sufferer it has been known to get both an ulcer and abrasion at the same time resulting in severe pain and discomfort not to mention intolerance to light.
This is very difficult to see as a carer of someone you deeply care for as you cannot take away or alleviate the pain, you have to let it heal and run it's course. Administering treatment can prove difficult and frustrating to children as they not surprisingly, are reluctant to open the affected eye. When our two were both toddlers we had some rather distressing experiences at hospital when staff were asked by an on call ophthalmologist to 'hold them down' so they could prise their eye open to examine them. This is a rare occurrence let it be known but still tattooed on ours and our children's brains. There have also been occasions when our children have almost been sedated or put under general anaesthetic just so they could be examined. Luckily they now open their eyes however painful to avoid the aforementioned experiences!
A vicious circle ensues as without antibiotic drops or ointment, the ulcer or abrasion cannot heal quickly and without complication. Bacteria will throw a raging party in a damp, dark, closed eye and the police will get involved, it all gets kind of messy It's just not worth the hassle to be honest. Treatment is always needed and on a serious note, essentially within 24 hours of the ulcer or abrasions onset. And this may be a good point to clarify I do not have any of the above which makes me very lucky yet, I am the one with the poorest vison and glasses!
When trying to explain that any of my children or my husband has a 'sore eye' can be difficult as people do not see the long term effects, strain and infringement on our lives or any other sufferers and their loved ones. They can have a 'sore eye' at any time, season, day. They may be regular they may be years apart.
Planning holidays, trips out in the short term future is difficult and always have to check for 'cancellation policies' due to this as they can occur at any time. They can go to bed fine, wake up and 'boom' they cannot open their eye and the pain is intensely persistent. Any new extra curricular group or teams/sports they attend we have to explain to the staff/coach about this and to advise that all care is taken when near their faces. Even in school we have had to make them aware of this and give them print outs of the condition for them to understand, and that they don't look at us like were over protective loons! It can infringe on daily life as watching the TV or the PC monitor, playing games consoles have to me limited and spaced out as the eyes dry out and can invite an abrasion. It has deterred my husband from trips abroad as when one of them gets a 'sore eye' the sufferer and myself are pretty much housebound for up to a week in the dark. Well that would be a pretty boring, waste of time holiday wouldn't it! At least if were a car or train ride away from home we can get free treatment (in the UK) and be in the comfort of our own home.
My husband has said that it's made him appreciate life a little more as he is getting older a flare up takes longer to heal and can leave more scarring on the cornea. And now he appreciates the good things that are free in life a little more like days out, walks, scenery etc. The good news is that his strain has not left too much scarring he can still drive, work do all the things anyone else can do and most probably will continue to do so.
There are immediate treatments such as antibiotic eye drops or ointment then there are more drastic treatments for sight deterioration which include Corneal transplants. These can be done using a 'donor' (sounds macabre but how amazing are the donors for agreeing to save some body's sight!?) or even now there is a man made (plastic) cornea (under research and development as we speak) which make the return of the dystrophy almost impossible as it has no tissue to attach itself to! And then there is PTK (Phototheraputic Keratectomy) laser treatment ( more detailed information can be found here http://www.eyeresearch.co.uk/ptk.html )
Who knows what the future development of treatment holds!
Day to day prevention has many different forms depending on the individual sufferer. My husband and 13 year old use Lacrilube ointment before bed as it's thick and lubricates the eye for a longer period. Our son also uses Lacrilube once during the day at school to keep his eyes lubricated (what with all that reading etc!) During the day my husband uses Celluvisque single drops in both eyes every couple of hours to keep the eyes moist, and has just started a trial period of Hylo Tears which offer moisture for a longer period.
My 8 year old uses Hylo Tears at night only needing one drop in each eye every night, reducing the need for intervention through the day, which is great for young children!
There are different types of Hylo Tears, ask your ophthalmologist which is best for you.
If you are a sufferer of, carer/friend/partner of somebody with any of the above please contact me or my husband if you wish to discuss this any further, your not alone!
Though they are rare conditions you do not have to feel isolated, there are plenty of organisations and groups able to offer help, advice and support out there.
And don't forget to ask your ophthalmologist any questions about anything related, they are there to help!
Thank you for taking the time to read this blog :)
No comments:
Post a Comment