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Tuesday, 02 December 2014 00:00

Down the Loo or in the Nettles!

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.

Wednesday, 19 November 2014 00:00

The Christmas When Life Changed Forever

"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......

Sunday, 09 November 2014 00:00

Young and Living with Usher Syndrome

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.

Sunday, 09 November 2014 00:00

The Day My Dreams Were Shattered


Hi. My name is Andi Nicole Horstkotte. I have Usher Type 2a. I was first diagnosed in 2012 when I was 30 years old. I was a brand new mama of a 7 month old boy and a photographer who had huge plans in that field of work.
It was hard to grasp that the reality of my dreams were completely shattered...no more dream camera...no perfect vision to capture the beauty of nature and people. GONE. But you know what happened next?

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.

In 2013 I gave birth to my 2nd child, a girl. She was diagnosed with Cystic Fibrosis. This is a life shortening disease and needless to say, I was DEVESTATED. How long will she live?? What's going to happen now?? How the HECK am I going to take care of her when I go blind?!? But you know what? They are working on a cure for her disease right this moment and it is because of people who had HOPE and RAISED AWARENESS that now my daughter will live a normal healthy life. This gives me hope that we will find something for Usher Syndrome. Will it be in my lifetime? I don't know...but I can pray and dream and share. Please do not ever give up on life and the things you love. Keep striving! God's got a plan and we are just a part of the story. 
If I can survive having a crazy lovable almost 3 year old son, a 1 year old daughter with CF who has treatments/therapy's during the day, a love for photography and graphic designing even though it can be straining on my eyes.....I say, BRING IT ON. Let us encourage each other to do the best we can. :)
Much Love


Friday, 07 November 2014 00:00

The Day We Thought Our World Had Ended

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.

Sunday, 26 October 2014 01:00

Diagnosis: Usher Syndrome

“Jillian, can you see in the dark?”
“Oh.  Are you supposed to?”
This was my response to my eye doctor at a routine checkup in high school.  It was the summer, I just turned 17 and was going in grade 11.
 My older sister Michelle had complained to our eye doctor that she was finding night time driving a challenge and was wondering why.  Which prompted his question to me when it was my turn.
I don’t remember anything more from that eye appointment.  I do remember hearing Usher Syndrome mentioned, night blindness, sight loss…but at 17, I didn’t care.  I’d never even heard of this “Usher Syndrome”.  Who the hell is that? 
What the hell is it? 
Why are we being tested for it? 
Why do we have to go to the IWK to be tested?
Keep in mind this was early 2000 and all I wanted for my “back to school outfit” were these orange pants...because orange pants are styling right? (Do you think I could ever find a shirt to match these things??)
Anyways we (as in both parents and all 3 of us kids) piled into our car and off we went to Halifax – for what I would find out to be a very uncomfortable day. 
I’d never had my eyes dilated before, and I wish I had been prepared.  
They figured out John (my brother) was fine early on in the testing so he didn’t have to do everything.  The lucky shit.
Michelle and I, not so much.  It felt like we were there all day, but at the end (FINALLY!!  I NEED to get those orange pants!) They pulled us all into the specialist office and she told my parents that both girls have Usher Syndrome.
I remember one parent asking when it would affect us, what we should expect.  The doctor told my parents that we would be fine until we were in our 40’s to our 60’s.  
My sister went was legally blind at 30.
Won’t affect them until they’re in their 40’s to their 60’s?
I think about that day once in a while, and how they sent us out of that office without a CLUE at what was happening to us.  No understanding of what Usher Syndrome was, what to expect…N.O.T.H.I.N.G.
I really feel my saving grace was my resource teacher Mrs. Burns.  In the high school I attended, there were a ‘large’ amount of deaf kids.  There was a special resource room for us where we could get extra help, have a quiet place to study and store those fun Phonic Ear Systems.
Mrs. Burns encouraged me to do my own research, projects and googling on Usher Syndrome.  She would help with explain those big ass words and terms. I even learned another deaf student had Usher type 1 and I learned a lot from watching and talking with her.  We even did a science project on the eye and how it worked and how Usher Syndrome made it not work and we got a damn good mark on that.  But after learning all this information I then would go home and explain it to my sister and whoever else would be interested or who I felt should be interested.
I also learned that Usher Syndrome was one of the reasons why I really sucked at hide-and-go-seek.
My ‘research’ got bumped up a notch when there was an incident at my first job.
I’ll tell you about that next time.
Friday, 24 October 2014 01:00

Me, My Wife Claire and Usher Syndrome

When my wife and I discovered that she had Usher Syndrome, my first thoughts were confusion, what was Usher Syndrome, what does it mean and why has she got it?
It felt so cruel hearing all this that we both broke down neither of us knew what to say or do, I just knew I had to be there for her and be strong for her. 
Together we started the long journey to discover all we could with numerous Opthamologist and Gentics appointments, sometimes there was so much to take in and we would come away heartbroken. 
I felt so relived that it wasn't just "Clumsy Claire" and that there was a reason behind it all, as a few years back i had noticed little things but wanted to see what the doctors had to say. 
I find Claire inspirational and I'm glad she found other Usher friends that she no longer feels alone and isolated, she's no longer a hermit she's become my "Happy Claire" again and I believe MWT has done that for her seeing how Molly copes with the world has taught Claire a lot. 
Claire now has a guide dog which made me feel Proud of her but also upset as it made it all so real and I realised it's something Claire has to live with everyday, it's easy for me to forget that she stuggles so much but with Minnie her Guide Dog beside her I know she will be fine.
Claire has her confidence back and along with it her independence I am now able to work full time feeling safe in the knowledge that Claire is getting on well with life now.