Being an Ushers Mum.
In 2011 I went for routine eye appointment and after a small discussion, the optician wanted to refer me for some tests.
I immediately had an in house field vision test. Let's just say we know how that went !!
I was a little naughty and opened up the referral letter the optician wrote to my GP.
I noticed the words Retinitis Pigmentosa.
Never heard of it. I was a veterinary nurse so I understood quite a wide range of medical terms.
So I did what most of us do. I went on good old Google.
Maybe not the best of ideas as I was at a wedding that afternoon. It was a good job I had waterproof mascara on.
I was shocked and then in denial. There was no way I had RP. Even though the more I read, the more it was like I was reading about my life.
It felt like torture waiting for the tests, having those gruelling tests done and then waiting for the results.
During that time I accepted what the outcome was. I knew deep down I had RP. Family and friends would tell me not to think the worst and that it was probably something less severe.
If I'm honest I think I did the right thing preparing myself for the worst, as when I was diagnosed I felt more together than many people. Well on the outside anyway.
Truthfully, I was devastated. I had 2 little girls, I had had my driving license taken away and my physically demanding job was in jeopardy.
My main worry was my children.
Would I hurt them somehow?
Would I see them grow up?
See my grandchildren?
I think I drive myself a bit insane for a while. But finally I came to realise that nothing in life is guaranteed.
I could get hit by a bus tomorrow, or fall sick and pass away. Yes I know it sounds morbid but if the worst was to happen and I fully lost my sight, then at least I'd be physically there. Which is more than some get.
After several months I stumbled upon an article about RP and there was a link to Ushers Syndrome. So I read up. Again it was like I was reading about my life.
As a young girl, after a routine hearing screen it was discovered I was completely deaf at a certain frequency with mild loss at all levels.
So ushers called out.
I spoke to my consultant and he said that I shouldn't keep reading up. That ushers was extremely rare and unlikely I had it.
I wasn't happy with his response so I took it upon myself to contact a genealogist.
She was amazing. She listened to my reasons and she had researched ushers. It was decided to do some blood work. I had my blood tested for 100+ ushers and RP genes. The test I had had only been available for about 18 months so it was fascinating to know the results.
After many months it was confirmed Ushers Type 2A.
Finally I was getting somewhere.
I went back to my consultant who didn't really seem bothered with the test results. He basically said "well yes you have it, there's nothing that can be done. We will check on you yearly to monitor the condition"
That was it.
My animals at work got better treatment.
I wasn't going to let this go.
I'd heard of Moorfields off an RP/Ushers group on Facebook. I emailed them and asked what the protocol was to get an appointment.
I went to my GP who applied to the local PCT for funding to send me.
Within a couple of months id got an appointment and was seen.
The tests again were very uncomfortable and knocked me about for a few days afterwards. But the work they do there is amazing.
They had all my notes from my local hospital and the genealogist. But they also did their own investigations.
They noticed I also had macular edema. I'm so thankful that this was picked up. As if not my remaining eyesight could of been severely compromised.
So now, just over 4 years later I've gone from being registered Visually Impaired to Severely sight impaired/blind.
I have just 5 degrees of vision left and am still taking drops for the edema.
The reason I've wrote this is I wanted to talk to you about RP/ Ushers and being a mum.
I had my first 2 children before I was diagnosed and I have had 1 other since.
I regularly see people on the groups ask the question of children.
Obviously there are many factors to consider.
Unless my husband was a carrier, my children could only ever be carriers, they wouldn't get RP. I have recessive RP. My parents are carriers of the faulty gene and I got both faults.
But for some, it's a much higher risk as they have dominant genes. This can be where several family members have RP.
I've been asked how I cope being a VI parent.
It's not easy. There are times when I've got upset as I've knocked a child over or trodden on and broke a toy.
But as time went on, we established a certain way of life. My older girls used to guide me from the car to the house at night when dark. They would know to move toys to the outskirts of the room so I wouldn't trip over them.
This obviously didn't happen overnight but as they got older, they did things automatically.
It also helps that I have an amazing support network around me. Without my husband and mum, I would find things a lot more difficult.
Would I of still had children after diagnosis?
Yes, I did. I had my 3rd daughter almost 3 years after diagnosis.
Would I of had children if I had dominant RP?
Truthfully, I'm not sure. I'm not in a position to answer it as I don't have that form. I think things may be harder due to both parent and child being VI. But with a routine and structure I know it can be achieved.
But from my experience, there is a lot more things out there that's far worse than RP. I have met some amazing people who have RP and now I find it more of a blessing than a curse.
I believe my children will become better people having a mum with disabilities.
At first I felt a burden to them. But now I believe that due to them helping me and assisting with things, it will make them appreciate the smaller things in life that many take for granted. I hope it makes them grounded and give them morals and values in life.
I think I'm a better mum since being diagnosed. I don't like to miss anything in my children's lives. I like to document everything and take many pictures.
We do a great deal of things as a family and make many memories so that if one day a cure isn't found and I lose my sigh I have those memories to cherish forever.
How does a mum feel when she's told her 12 year old daughter is set to go blind - NUMB.
First things first, get head around the condition, hate it with a passion and then decide on a plan of action and most importantly somehow tell your precious child the news that she is now deafblind and even worse, it's going to progress and there's no cure - DESPAIR.
Queue sleepless nights and the torture of keeping the nightmare of Usher Syndrome from Molly until I felt able to not only deal with my own feelings but hers too.
In my mind I had gone over a million scenarios of how I would tell her. My husband happy to leave it to me!
I remember so clearly the summer after Molly's diagnosis driving to collect my younger daughter from school, it was a beautiful late summer afternoon, Molly was sat beside me in the front of my car and I asked her if she could see me, straight away she swung her head round to look at me and said "Of course I can" I knew straight away I had to tell her and quickly as clearly she had already started the natural adjustment! "Molly can you look straight ahead and see me?" "No" she said. That very moment I was glad she had little / no peripheral vision as the tears streamed down my face, boy was I quick to put on my sunglasses to hide my devastation of the reality.
That day I decided the time had come and I'd have to tell my beautiful child what was happening.
That night I tucked her into bed and later watched her sleeping, she looked so peaceful and so perfect and yet this devil lay within, I'd never felt such DEVASTATION.
A few more days passed, a few more weeks waiting for the right moment but doesn't the right moment ever come to tell your child she's going blind? NO.
Several months later it just came out, nothing planned, it just happened.
Molly was not phased at all, she listened and had little to say initially, her trademark smile still there.
I told her the name of the condition and the basic outline of what was to come. I also told her life was set to change and irrespective of what happens we had each other and together we would be strong and that whilst Usher Syndrome was responsible for her deafblindness what it would not do is take our memories and that we would begin making extra special ones and that is exactly what we have done as a family.
We have done so many things we definitely would not have done had it not been for the Usher diagnosis and every day brings the chance for new memories, it doesn't have to be things that cost money or to travel far afield some of the greatest memories are made simply by being with family and friends.
As Molly says "Usher Syndrome is not a death sentence, it's a challenge but that's all I know".
Let's say it's been a bumpy ride and I'm sure it will continue that way but as tough as it can be it is doable.
I have watched Molly grow, I've watched Molly struggle, cope, battle and become a beautiful young lady, inside and out but what I've seen more than anything in Molly is DETERMINATION to make a difference to others.
Molly turns 21 this month and as I look back I feel absolute pride at how she has grown and the things she has achieved at such a young age and there is so much more to come of that I'm sure but that's for another day.
Do I worry about the future? Who doesn't? I worry about all four of my children, isn't that what being a parent is all about?
Down the loo or in the nettles at the end of the garden: from the age of 3 my top two destinations to hurlmy detested hearing aids.
Painfully shy, diagnosed profoundly deaf and devoid of much speech, I took every opportunity in venting my fury at having to wear such instruments. I mean, have you SEEN those things we had to wear back in the 70s? Worn on a harness with huge wires travelling from chest to ears that shouted ‘Look at me, look at me!’. Not to mention the shocking level and quality of noise that was funneled into my ears.
Of course I have many, many happy memories of early childhood, but those that are sharpest in my mind are those of isolation, confusion and excrutiating shyness.
Nursery: I had absolutely no clue of what was going on most of the time.
Early school: desperately wanting to blend in but oh, the agonising, public shame of having to walk out of the class in front of everybody’s stares for my speech therapy, and then everybody’s questions afterwards. One classmate asking me ‘why was I death’?
My desperation to be a normal part of society was all-consuming and gave me a determination (some would say pigheaded stubbornness) to prove to everybody I was just as good as anybody, and better. With the steady improvement in hearing aids and relentless (and I mean, relentless!) determination of my mum to fight against the system and open up my world, I slowly but steadily started catching up with my contemporaries.
By the time I was in to my second year at a private girls’ school (small class sizes and fewer teachers to remember my needs was, fortunately for me, a huge help), I was academically successful, ending up with 10 O’ Levels and 3 A’ Levels, was in many of the sports teams, played badminton for Surrey and had a decent circle of friends. With long hair to cover my ears and a good speaking voice, nobody would ever know I was deaf.
Now I turn to another memory: this time me at the age of 15, in my bed not being able to sleep. Praying: please God, please God don’t let me go blind. Which is weird because I was not, at this point, suffering any loss is sight as far as I knew, it was that my bedroom seemed darker than usual and I couldn’t pick out things in the room I was sure I could before.
Although I didn’t know it at the time, the slow decay inside my eyes had started. My badminton started suffering. I struggled to see at parties. I couldn’t see the same as my friends in the cinema, I became ‘clumsy’.
But it wasn’t until I was 22 that I had any inkling of what was happening. I was having Sunday lunch with my boyfriend’s family one weekend when I complained about my poor night vision. My boyfriend and his father, who were both doctors, fetched an opthalmoscope, spent ages taking turns peering into my eyes and looking up stuff in their medical books, In the end the words Retinitis Pigmentosa came out, and there it was, my bombshell. Delivered to me post roast pork and apple crumble in a sunny living room in leafy Northamptonshire.
The formal diagnosis when it came whilst sitting opposite Professor Bird at Moorfield’s Eye Hospital, was of course utterly devastating for me and my family. The unbearable unfairness of it, the overwhelming fear of my new future was terrible. Consumed with numbing grief, resentment was at the surface of everything. Why me? I had already beaten a profound hearing loss so why this as well when I need sight so much more than other people?
My parents supported me and loved me, but I knew they felt an enormous sense of guilt about passing on such genes. I didn’t have enough in me to deal with their feelings of guilt and sadness. My parents always fixed stuff, it was frightening to see them and everyone else become powerless.
I was offered no effective, appropriate support for someone of my age and stage of RP. The literature, containing pictures and stories of guide dogs and canes and people twice my age, made me feel ten times worse as I was nowhere near that stage and I threw everything away I soon as it came in the post.
Completely lost, this was the beginning of my new mountain to climb.
‘Down the loo or in the nettles’ is to be continued.
"Mum I can't see the whiteboard at school properly"
Me: "Are you sitting close enough to the board?"
"I always sit near the board and the teacher, always have to otherwise I cannot lipread and miss out in class".
Me: "I think you need an eye test, maybe you need reading glasses"
"I'm also getting terrible headaches".
An eye test was arranged for both daughters that coming weekend.
Yes, both daughters as the younger daughter always felt she was missing out on the never ending appointments Molly already had because of her deafness - she now realises just how fortunate she is I should add.
Arriving at the local opticians at 9.30am that December morning both girls quite excited we waited for their names to be called out.
Lily went first, she was very excited and was thrilled to be told she needed mild reading glasses.
Molly was next, her test seemed to go on and on and on and twice I was asked if other staff members could look at her eyes as she was displaying something out of the ordinary.
I began to feel very anxious, coincidently I'd had my own eyes tested for the first time just a week or two before so I was suspecting something wasn't right.
However, Lily was skipping around with excitement that she needed glasses!
By the time the optician had finished his investigations and spoken with several staff members my husband had got to town from football with the boys.
The girls were asked to choose their frames with another member of staff as Molly too needed mild reading glasses whilst Andy and I were asked into the consulting room with the optician.
The door closed behind us and then came the hammer blow which was to change our lives forever.
"Do you mind if I ask about Molly's hearing as we noticed she wears hearing aids?"
Molly was born severely deaf, picked up at 18 months after lots of fighting to get her tested properly as her speech was not developing - we had been told Molly's deafness was a "technical blip" it is nerve damage and therefore she would need hearing aids all her life, we had dealt with that.
The optician explained that he had recognised RP (Retinitus Pigmentosa) when looking into Molly's eyes, a progressive retinal condition, that it looks slightly different in a patient with Usher Syndrome.
Usher Syndrome is deafness and RP and there are several types. "Your daughter is the only patient I have ever seen with, what I suspect to be Usher Syndrome, which is why I asked if my colleagues could see, it is very rare and some opticians might never ever see it".
Then those words I'll never forget "Don't be alarmed but your daughter must see an eye specialist as soon as possible".
On leaving the consultation room I was in shock, I could see my two beautiful daughters trying on glasses, excited and happy, just how they'd always been and all I wanted to do was cry - it's true it hadn't been confirmed but as much as I didn't want to believe it, I just knew not only did I have much to learn to support my daughter but that life would never be the same - I was in shock.
That news came on 11 December 2006, two weeks before Christmas.
Google came into its own, I read and researched, read and researched and read and researched from that day until 2 January 2007 when we had our first visit to Moorfield Eye Hospital in London and saw the amazing Professor Tony Moore who confirmed Usher Syndrome and most likely to be type 2, this was later confirmed through genetic testing much later on.
I made it very clear at Moorfield that I did not want Molly told of her diagnosis. I felt at only 12 years old breaking this bombshell to her should come from her parents.
How I told Molly is another story......
Hey my name is Jodie, and I am any normal eighteen year old except having to cope with this cruel condition too!
So here’s my story.. I had no clue what RP or Usher syndrome was until I joined secondary school, and had a friend in my year who was diagnosed with it, I learnt bits from her just by asking her questions about how she coped and what it was like. I knew she struggled in the dark a lot because she always asked someone to guide her around the school. I always thought to myself how brave she was coping this condition at such a young age and that I was the ‘lucky’ one that I didn’t have it. She sadly left by the end of year seven and then forgotten about Usher as I got on with my life. The Halloween night came by and I was out trick or treating with my friends and my sister, then there was a low brick wall with a street lamp above it, I just happened to walk straight into it and tripped over and bumped my head, of course my friends laughed and my mum got bit concerned about it because anybody would have seen that. Weeks went by, I began to bump into things or trip over the objects and I chose to ignore it and thought I was just being clumsy child. My mum wasn’t having it so she took me to opticians to have my eye tested, I didn’t really know what was going on and just thought I needed glasses. But until the lady said that I could be diagnosed with Usher syndrome and needed to transfer me to the hospital for further tests. I just sat on the chair froze and thought to myself this is impossible? I was only 13 years old .. My mum went hysterical and burst into tears, so we both walked out the opticians and told my dad and my sister the news, my dad fought back his tears and tried to stay strong for me while my sister started to cry. They already knew little bit about the ushers because I told them about my old friend I had in my school.
When we got home, my mum researched more on the computer about the ushers, and I used to get really angry at her and telling her to stop looking it up and that I ‘don’t’ have it, I guess I was in denial at that time believing that the lady at the opticians had got it wrong. Then it was the day I had to go to John Radcliffe Hospital in Oxford, my hands was shaking and my thoughts were all over the place but I had to stay strong for my parents. When we saw the doctor, she tested my eyes with field vision tests and I remember the first time I had eye drops in, I hated it! Then the consultant came in and started explaining about the Usher syndrome and gave my parents books and leaflets. I just sat on that chair just blanking everything out and thinking this must be a terrible dream. I went home later on that day, and I knew I had to tell my friends at school, so I started to tell my close friends that I have Ushers syndrome and they were very supportive and already knew little about the condition. So I was little more relaxed around them because they treated me like normal and only ask if I needed help to get about in the dark. I used to be so stubborn and say ‘No’ I can cope with this all by myself and pushed my friends away when they asked if I needed help to get around in the dark, as I walked in the dark by myself, I struggled so much and got so terrified because I didn’t want to walk into something and get hurt. So I ended up telling my friends to help me get around in the dark and they understood that I wanted to be independent teenager but only needed extra help.
Now my family and friends are all aware of my condition and learnt that they don’t need to go over the top about it and just take one day at a time, I still go to hospital appointments and yet I still moan about going or I didn’t want to do the tests and I still get frustrated when I trip over things and bump into something but that’s something I have to live with I guess? I had no one to talk to about my usher similar to my age until I met this lovely girl Molly who also had the condition. I just remember the first time inboxing her on Facebook and asking how to open up to people about my worries and I kept bottling things up inside me because I didn’t want to upset anybody and wanted them to think that I coped fine. She replied back and she was so calm and reassured me that it wasn’t good holding things in and it’s better to let people know how you’re really feeling. So I took that advice and opened my worries to my close friends and boyfriend and they were really supportive, especially my boyfriend took his time to research the condition and try to understand that I needed little support at night times and not to wave the sides when I can’t see very well, he even goes to the hospital appointments and coped my complaining about the eye tests that I had to do. He was there all along just by holding my hand and making sure everything is ok alongside by my family too.
You should never let usher stop you doing things you want to do in life, even though it may be hard but try and achieve it with extra support, I am very glad that Molly had set up the website and blogs where I can happily read people’s stories and feel a lot better about it when I know I’m not alone in this cruel condition. So I would like to say great big thank you to Molly and her family for taking their time to do this amazing website/charity to get more people to be aware of the condition. Lastly I like to say big thank you to my family for being so supportive and being there when I need it.
My friends and family had faith in me. They all came together and bought me a BRAND NEW CAMERA! I am talking those heavy duty $3000 DSLR camera that would rock any photographers world. WOW. I still get teary eye of the day I opened up that package (you can read the details on my blog). This gave me confident to keep moving forward. I still have my central vision. I am NOT going to give up because of what might happen in the future...there are so many if's and maybe's and hope's.
We are Jakes parents and this is our story.
After a routine eye test that resulted in 6 months of appointments and tests (and the dreaded googling to find out what our son could have) the day arrived for us to get Jakes results at Grimsby Hospital, the date was 12 April 2012 a day we'll never forget and a day that changed our lives.
Firstly we saw a doctor that couldn't speak English very well and whose accent was so strong that neither Jake nor Trev could understand him (both are deaf), and I couldn't understand the majority of what he said. He said he wanted to do some more tests, I refused and explained we were there for results only, he asked what results he flicked through jakes file (which is the thickness of my arm because of him being under audiology since he was 2) and said that Jake hadn't got anything wrong with him, when I asked him about Ushers he said "that only effects deaf people" even the nurse was gobsmacked at what she was hearing, he ignored me and ignored Jakes look of fear and grabbed Jakes head and put drops in his eyes and then sent us out of the room, at this point Jake (who is normally a very placid boy) head butted a wall and it took both myself and Trev to stop Jake from leaving the hospital there and then. The nurse came out of the room and when we asked what was going on she told us to ask to see a consultant as this doctor didn't know what he was talking about!!! When he called us back into the room he was still waffling which resulted in Jake, myself and Trev being in tears, the nurse stood up and said "I've had enough of this, follow me" she picked up Jakes file and left the room. She got us in to see a consultant within a few minutes, Mr Goel was very good, he was shocked when he heard what had happened and could only apologise when he had to break the news that Jake did indeed have RP and Ushers. He explained as much as he could about RP but admitted he knew nothing about Ushers.
We returned home in silence apart from the odd sniffle from one of us crying, Trev went to work (his way of putting things into perspective) Jake and I hugged and cried together for a while. My sobering moment was when Jake said "Mum we'll just take it one day at a time and see what happens", it was like our 13 year old grew up overnight.
Subsequently Jake was referred to Moorfields which is good as Jake has refused to go back to Grimsby unless it's to an Audiology appointment.
Jake is amazing and deals with any situation with confidence and steely perseverance, we are so proud him and his attitude to life and having Ushers. Nothing stops him from achieving his goals. Jake has made Trev and I see life differently and all for the better.