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Thursday, 01 January 2015 00:00

Let's Get it Straight - A Mother's rant

What is Multi Sensory Impairment?

"Persons are regarded as deafblind if they have a severe degree of combined visual and auditory impairment resulting in problems of communication, information and mobility".

One severe impairment e.g. severe hearing loss, accompanied by partial sight or moderate sight loss still constitutes deafblindness. The reason the later or secondary loss only requires to be moderate before compounding effects are felt, is that the second sense has been relied on to compensate for the first loss. Normally a profoundly deaf sign language user who becomes partially sighted will have inherent problems with communication, access to information and mobility. In a similar manner, a hard-of-hearing person who has always lipread, when vision deteriorates at all will have problems. Equally a blind person who has relied upon sharp hearing will have real problems if hearing substantially deteriorates.

So how should somebody of school age with this condition be supported?

A teacher of the deaf or teacher of the visually impaired is not enough, there must be a multi sensory impairment specialist involved. 

In our area we found support for deaf children outstanding. At the beginning it was very full on, literally bombarded with information, weekly visits from a teacher of the deaf, meeting with speech therapist, groups to attend to meet other parents and deaf children, audiology appointments regularly, details about claiming Disability Living Allowance, details about our local Deaf Children's Society and the Charity DELTA (Deaf Education through Listening and Talking) who's ethos I absolutely recommend and details about SEN (Special Educational Need) and Statementing.

It was daunting but looking back how lucky we were to have so much support and input from the Hearing Impairment Team and particularly the Teacher of the Deaf (TOD) and great input from the Speech Therapist.

We also had consistency and accept for two or three visits Molly had the same TOD from pre-school through to almost 14 years old.

Lots of hard work went into supporting Molly on her journey as a deaf youngster and the results are clear.

Molly caught up with her peers, her speech developed beautifully and she often describes her happiest times where at nursery and primary school.

Then came the "Usher Diagnosis" at senior school.

Confusion best describes the next chapter:

Deafblind, no qualified teacher to work with the deafblind but there are Visual Impairment Specialist (VIS) teachers, Molly will have a senior one!

All well and good but a TOD and a VIS do not add up to a Multi Sensory Impairment (MSI) Specialist.

There was the honesty that neither the Deaf nor VI teams were familiar or experienced in supporting somebody with Usher Syndrome - somebody needed to be trained' it would take 3 years for somebody to be qualified!

In the meantime MSI support had to be bought in from Sense to support not just Molly but the team around her and that was to include teachers and teaching assistants at the school as well as advise the TOD and VIS.

The one thing that became ever obvious was the sheer exhaustion deafblindness brings along with mobility issues and acceptance.

Acceptance made ever harder by the ignorance surrounding the condition.

For us there was a grieving period, which was very painful, particularly when there is continuous questioning "You're not blind" "You're not deaf" even by those who should know better.

The cruelty of an invisible disability makes acceptance all the harder, the continuous questioning often leads to a very unhealthy and unacceptable denial which again has its problems.

The desire to just "fit in" never goes away and then the need for acceptance from all.

Acceptance and understanding in education, acceptance and understanding in the work place and acceptace in general is required and it really isn't a big deal to know the basics.

I cannot and nor would I want to speak for the entire Usher Community but where my own daughter is concerned she wants to get on with her life, to achieve what she can and more important than anything she wants and deserves to be happy.

In order for her to have those few things all she needs is to be accepted as the person she is and to be understood and what is more she is the expert on herself!

At this stage direct support can be achieved by simply asking!

In the workplace potential employers should be aware of the diversity and unique skill set people with usher syndrome can have, how much value they can bring to any workforce.

Like us all they just want that chance.

I think they call it "Thinking outside of the box".

Thursday, 27 November 2014 00:00

When Denial Becomes Reality

Retinitis Pigmentosa (RP) has always been something that I've denied but this year as I turned 39 it became clear I couldn't deny it anymore.

I was 7 years old when the news came that there was RP in my family.  My sister was the first of us to be officially diagnosed it was the early 1980's and there was very little information around then she recently told me that back then she was informed by the specialist at Moorfields that there was no cure or treatment, she would most likely go blind and not to have any children!  However, she now lives in San Francisco with her husband and two amazing children Lauren and James both in their early twenties and both unfortunately have RP.

My memories of that appointment are vague all I remember is having eye drops that made me unable to see for a few hours which I remember was scary especially at 7 years old. From there on I didn't think about it, RP was just an occasional conversation piece that we had an uncurable eye disease in the family that might make me blind but probably not until I was very old!

I continued to live my life and was lucky enough to have an amazing one with many extreme highs and lows enough to write a pretty good book but that's for another time. I travelled the world working as a singer beginning my career as a Bluecoat at Pontin's and eventually becoming a touring cabaret act performing at holiday parks and hotels all over Europe. My travels eventually took me to Glasgow where I began to settle and build a new life. RP was still very much at the back of my mind even though I knew I was struggling with going from light to dark places, by this time I was in my mid twenties. I was building a career in car sales was in a relationship and the years began to fly by without much thought of my eyes.

By the time I reached my 30's my thoughts turned to becoming a father, I never entertained the idea before, nothing to do with RP just down to having too much fun working in entertainment. On November 4th 2007 my life changed when Ellie was born, I took to being a dad as naturally as I take to the stage and as the tattoo says on my right forearm "It's like a song I've never heard I've never sung but know the words" a line from one of my favourite songs which describes becoming a father.

The bond between Ellie and I was so strong unfortunately the same couldn't be said for the one between myself and her mum and the relationship came to an end by the time Ellie turned 3.

At that time I had gone back to singing again driving all over the uk performing as a cabaret again. I made the hardest decision of my life to move back to manchester to be near family and to give up singing again so I could regularly make the long drive to bring Ellie down from Glasgow. By this time even though my eyes would struggle in darkened rooms I could still drive with no problem. As hard as it was trying to start again being so far away from my little girl I knew it was something I had to do, I had a gut feeling that it would eventually work out and that's when I met Amy.

Amy came in to my life and brought with her the promise of a love filled life I thought I'd never find. Amy had two boys Harvey and Louie, Ellie and I slipped into their world like it was just meant to be.

Within 2 years together I had gone back to car sales trying to build our life we were blessed with the arrival of the cutest baby boy you will ever see Austin, he arrived in June 2013 and on Xmas day that year I asked Amy to marry me and she said yes!

We then started to plan our wedding for New Year's Eve 2014. The following year everything changed!

By May this year my eye started to get worse and a check up at the local opticians confirmed my worst most denied fear my RP had started to rapidly progress and my driving days were over. My first thoughts were of Ellie and how was I going to be able to see my little girl? My second was what was I going to tell work?

I told work straight away and they let me go on the spot as I could no longer continue my role without a driving licence.

My little families world began to unravel, I went to the specialist who confirmed me as legally blind and gave no other answers. I then went to the job centre and asked for help. From there on it has been a constant battle to try and get the help we so desperately needed but were plunged into extreme poverty falling behind with bills and just finding it extremely hard to survive due to the horrendous waiting times for PIP etc never mind not being able to see Ellie due to the cost of collecting her from Glasgow.

As the months have passed this year my eyesight has rapidly declined to the point where I have now started long cane training and am on the list for a guide dog to try and get back the independence I have lost as I now suffer with anxiety due to my vision loss my confidence has all but gone and I very rarely go out alone.

The things that have kept me going is getting married to the love of my life on New Year's Eve as planned and meeting an amazing friend in Simon who I met through one of the facebook RP support sites on the advice of my sister in San Francisco.

Simon has Usher Syndrome Type 2 and it was obvious from the start we had so much in common other than our crap eyes. We shared a love of music and the same sense of humour. He is my best man for the wedding. When simon and I became friends he invited me to come round to his house as he had a mini recording studio so I could sing and let off some steam. Here began the start of a little confidence returning and the idea for my RP project.

Simon and I had held a couple of informal meetings with other RPers and that's where we met Colin who also has Usher Syndrome Type 3, a very special person who was equally passionate about connecting those who felt alone.

As time and eye sight went by I became more vocal and passionate about the injustices visually impaired/blind people were going through all over the world and that's where "Stand By Me RP" was born.

I was asked to perform at a meeting for people with RP and Ushers in the north and decided to created a theme song for us that I could share worldwide, I decided to use "Stand by me" http://youtu.be/qxFdmqZoceo because everyone knows it and then I re-wrote the lyrics around the fears a lot of us have. Through the support of the VI community and the amazing people who have responded to the video and continue to keep sharing it the message has reached place and people I never thought I would reach.

Molly and her incredible family and Joanne Milne who's story reduced me to tears in seconds in fact I have written a song about Usher Syndrome for Jo which we will unveil together in the near future. All of a sudden my future looks good again I am determined to take the disease that has stripped me of my confidence and use it with my passion for music to help as many as I can whilst in turn helping me find me again. Amy and I are stronger than ever and our wedding is only weeks away and even the recent trip to the specialist who confirmed that my central vision is deteriorating fast could not dampen my new found spirit. I will begin 2015 a married man and plan to fight to raise awareness for RP and Ushers with your help of course

Monday, 24 November 2014 00:00

Usher Blog From A Dutchie

Hello! My name is Rick Brouwer, I am 49 years old and I live in Vlaardingen; a city near Rotterdam in The Netherlands. In the foto (left) you can see me running with a buddy. Yeah, that is also possible even when you have USher Syndrome!  On 15 November at 7pm, 7 UShers together, participated in the 7 km night marathon over the  7 hills of the city of Nijmegen and I was one of them. It was an amazing  experience. We Ushers had not only our buddys, families, neighbours and friends running with us but also doctors from the Radboud hospital. This was our first campaign to raise funds to support further scientific research on a hopeful therapy for Usher Syndrome type 2a, which has already started at the Radboud hospital. I will tell you a bit more about it but let me first share my own story. 

The first time I heard of Usher Syndrome was when I was 18 years old. My sister who was 14 years older than me got diagnosed with Usher Syndrome. Due to the fact that I was already wearing hearing aids, my brother in law and my sister asked me to get myself tested too. At that time I was in denial and I refused to believe that I could even have Usher Syndrome. Six years later at the age of 24, I was  driving my car and I almost caused an accident. This was a sign for me to investigate the possibility of having Usher Syndrome.

The doctor in Amsterdam diagnosed me with Usher Syndrome. It was a slap in the face. I was already in a long-term relationship with my wife and the doctor told me that it would be best to have children asap. This way I could still see them growing up, as I would go blind later in my life. I thought that it was a very strange remark!

My children are 22 and 16 years old at the moment and I still can see them despite my very small tunnel vision of about 10 degrees.

After that visit to the hospital I never drove a car again.

It felt quite bad that I could not drive my car anymore, it felt like my freedom and my independence were taken away.

The years after that I totally ignored my visual impairment, this way it did not feel so bad!

I had a nice career in the local council as a financial consultant. Yes I did use a cane and magnification software on my computer, but I did my best to remain part of the "normal" hearing and seeing world.

Until two years ago, where I realised that I could not take it anymore! I had burn-out and I decided together with The Royal Dutch Visio, an organization specialised in people with visual impairments, to follow a rehabilitation program. During this intensive program, I came to terms with both my visual and hearing impairments. I learnt how to pay attention to the signals that my body sent when I was getting tired. This was something that I had neglected for many years! Listening to my own body, setting my own limits are and not just do what everyone expects from me.

After my revalidation, I went back to my job on a part-time basis and I am now busy creating a new job. I want to focus on sports for disabled people. I believe that I have a lot to offer using my own experience as deafblind runner and board member of the Running Blind Foundation in The Netherlands. Always look for opportunities and follow your passion instead of remaining in the shadow.

November 2011 was also a turnaround point for me. The Usher Syndrome symposium in the Netherlands! Since then I have accepted my Usher Syndrome even more and I want to get in touch with more peers with Usher Syndrome. During that symposium, I experienced how much I can learn from my fellow sufferers.

 I am also an advocate to bring Ushers in Europe and beyond in contact with each other. Creating more #usherawareness is very important.

At the moment, I am busy with some other fine Ushers setting this up! Keep an eye on www.ushersyndroom.nl!!!  We will soon go live and next to our Dutch website, you will also be able to find all important information translated in English. I also hope to meet Molly in person one day during an International Usher Day or Usher conference in The Netherlands or in England or in Ireland [Symbol].

De vrolijke groet van Rick

Monday, 24 November 2014 00:00

Falling Into The Darkness

This was another day in my life when Ushers Syndrome had well and truly won.

I’d had my shop for three years after struggling with the demons in my head after taking my redundancy. I’d started a shop selling wallpapers and soft furnishings, I’d had a huge build up of emotions. I’d ran the shop for three years, but Ushers was taking over.

It was becoming harder and I was now on the waiting list for a guide dog.

The shop landlord wanted me to commit to another three year lease and also to increase my rent. The time had come to sell up and ship out. My heart was heavy, anybody that knows me will be sure to tell you I don’t do things half heartedly, either all or nothing as if i have a massive point to prove. Turns out all my Usher / RP friends feel the same, as if they struggle for acceptance in the normal world. But what is the normal world?

Back to the Thursday 13th of June 2013, I’d managed to sell most of my stock and had a date to be out of the premises, it was in the two weeks time on a Saturday. I’d managed to sell off lots of stock, but had to get rid of the fittings shelvings etc, this had all been made up in the shop and was too big to take out of the front door. I’d sold some of the display boxes I’d had made for my wallpaper. I’d sold two lots of twenty boxes (these were pretty heavy and made from MDF).

My shop closed at 17:30, so i made arrangements for the display boxes to be collected after that- as you can imagine, middle of June it was a lovely night and quite dazzling on my damaged eyes. I told the guy to bring help but he didn’t and if the truth be told, I didn’t feel comfortable about the whole thing from the word go. The only way out was to slide them along the floor, out the rear fire exit door, then lower them off the flat roof the the van below (which was ten and a half feet). My partner and her father arrived. They watched on the ground as me and the other guy slid them along the roof tied ropes around them, then proceeded to lower them down. It wasn’t easy but we did it.

Thank goddness I thought, took one step back and fell ten and a half feet, I hadn’t seen the hole in the corner. It was a rectangle about eight feet long by three feet wide, but someone had bricked up the wall. So not only had I fallene, but I had no way out!

When I fell I guess I was very lucky, as I had landed on my feet and quickly pulled myself together, but when I fell I didn’t feel right,  I’d hit the floor with my hand and elbowed myself in the ribs. Also my glasses had fell off I searched about all the time, all the time I could hear people screaming my name, asking if I was ok. Then as I tried to pick up my glasses with my right hand I felt pain, I’d never felt pain like this in a very long time. I looked again, my right hand had in fact snapped off the end of my arm. I felt physically chlaustrophobic, how the hell can i get out? I thought. I didn’t want to panic anybody, I yelled “I’m ok, I’ve just broken my wrist I think”. Even though I knew I’d done more than just break it. There was lots of panic on the other side of the wall, as they decided to go and get ladders. I should of dialled 999, but I guess it was the Usher /RP that stopped me!

I went for the hard option rather than embarass myself. It felt like an eternity, all the time I was trying to stay awake and talk to my partner’s father on the other side of the wall, I’d even managed to call up A&E and book myself in.

Eventually, the ladders arrived along with a squad of helpers. One thing I didn’t want or need was someone to remind me about RP/Ushers and how I shouldn’t have even attempted this job in the first place. The ladders were now lowered and I was up the ladder before anybody got one foot on the rung, then the ladders were dropped over the other side of the wall. This time they demanded someone went before me, by this time they’d all seen my hand and how yellow i was becoming. They took forever to get me down. I jumped in the car only to be met by a hundred questions. I knew it was bad, because I couldn’t even put the seatbelt on and my partner wanted to throw up. It was a long, very long couple of miles to the hospital. I even called A&E again: “Hi it’s Colin, we are on our way”.

We arrived in A&E only to be met with a glowing, friendly smile and a wheelchair. It was Mark, a guy who used to work for me many years ago. He was brilliant. He took me to A&E and got me x-rayed and scanned, he then told me it wasn’t looking good and would have to reset, but there was splinters. So now I had everybody off the ward as an audience. He injected my hand twice, held my shoulders, and popped my wrist back on the end of my arm. Next I got a million questions about the incident and what did I say? I fell over the back door step, I guess I did this to hide the embarassment of RP Ushers.

I was on very large doses of pain killers and liquid morphine and very very tired. I was admitted to the ward and constantly fussed over by everybody. To be honest I hate that, especially as I kept thinking this is your own bloody fault, and that damned Usher Syndrome got me again!

The medical staff were great. They talked in detail about me but I was with the fairies on morphine, only to wake up two days later to find they couldn’t operate on me in Dumfries, but wanted the top man in Scotland to do it: Mr. Hamed at Gartnavel, Glasgow. They offered me a taxi, but I declined. I arranged my mother and father to take me up. Now I faced a further five days in a single room with Ushers, I was more concerned about that than my hand. I was met by the great man himself, a young guy and a good sense of humour. I was gowned up and ready to go, he said “ It says you fell over the back door step. Now tell me what really happened?”. So I did,  I explained about my vision. He promised to try his best, as long as I stayed off roofs and tried hard on my physio.

After a couple of days, he came to see me. He said “You’re a lucky boy, you have 12 titanium pins, but I don’t think you’ll ever get full movement”. Before I left he sent me to physio. They told me five exercises ten times each, three times a day and stay off work for at least six weeks. So off I went back home.

The next day I was at work I had to wind things up, it was very hard. But I did it. I also kept doing my exercises all day. Finally the day came to empty the shop, it was a huge relief and felt right at the time. As if someone was telling me to behave, enough is enough. So I continued my exercises and went back to Mr. Hamed after six weeks he said “how are you doing?” He just laughed. “No more roofs for you. Your wrist is about three inches wide, your neck is half an inch, you’re one lucky boy”. He then laid the backs of his hands on his desk and said “You’ll never ever get this movement back”. I did the same and he was shocked. I told him “You made a promise and I made you one”. I guess I was so mad at the situation, I felt I owed him for wasting his time and being such a fool.

Well I guess the moral of the story is don’t be too proud to let others help, sometimes it is better to just walk away. Life is too precious. 

Friday, 21 November 2014 00:00

An Extraordinary Girl in an Ordinary World

I guess you could always say I was unique from the time I was born.  My mom had complications from the start of her labor with me, her water broke but instead of coming out it went inside and essentially I was drowning in the womb!  I survived, of course, however it was just the start of the life I would about to live. 

The day before my 3rd birthday was the start of many surgeries in my childhood (I had over 30 but lost count of the official number) due to the result of my Eustachian tubes not being fully developed.  The doctors just assumed because water remained in my ears for so long undetected, that was the reason I suffered from nerve damage which lead to moderate/severe hearing loss in both ears. 

When I was younger, I can recall always being able to see at night, running around the racetrack as my dad was an avid dirt car driver at a local track.  Then one year, it almost seemed to disappear.  My mom would try to bring it up to my eye doctor and he would just say I was clumsy!  I guess randomly running into walls or people would appear that way, but in my defense I honestly didn't see them.  As time went on, I just took what I saw as something everyone else did and always wondered why I couldn't see very well when everyone else seemed to just fine.  About 2 years ago is when I really noticed a change, but never in my wildest dreams would I have guessed I was going blind!

In April of 2014, I decided to get my eyes checked up at Sears Optical since they had a sale on eyeglasses and seemed to be more affordable than any other location in the city. What started out as a typical eye exam ended up being something so much more.  I was referred to a retina specialist at RVC (Retina Vitreous Consultants) here in town.  Only 4 days later, I found out I had myopic degeneration and he (Dr. Bergeron) wanted me to see another retina specialist (Dr. Rath) within the next 2 weeks.  After I saw Dr. Rath, she examined me and then said quote, "There's something really serious going on and we need to find out what exactly so we're sending you to Pittsburgh for extensive tests."  I remember sitting there in a surreal feeling as if I were listening to this from outside my body.  It definitely hit me upside the head and not in a good way! Needless to say I cried a lot over the next few months until the testing in July.

After my tests were done in Pittsburgh, it confirmed that I had RP or Retinitis Pigmentosa (Rod/Cone Dystrophy) and that I would be legally blind within a year or two.  Dr. Rath was very surprised I could see as well as I can since the damage is extensive she said. I didn't get a set degree of vision, but I see out of a square like shaped box of sorts. 

After my RP diagnosis, I did some research of my own into what causes the disease and so on.  I came across an article that described Ushers, and to my astonishment, Ushers Type 2 was a dead ringer for everything I had.  I was born with moderate/severe hearing loss and more recently, the RP.  After my latest hearing test, Dr. Rath as well as my audiologist confirmed that I had Usher's Syndrome Type 2.  In March of 2015, I hope to get genetic testing to confirm everything in black and white.  I think it's crazy to know that just 400,000 people, or 0.006% of the population, has one of the three types of Ushers!

As if the Usher's isn't enough to deal with, I've also dealt with a lot of health conditions and just within the last 5 years, I've been diagnosed with diabetes, high blood pressure, edema, gout, rapid heart rate, and a heart murmur!

Rest assure that this will NOT slow me down.  I've worked since I was 17 (a junior in high school) and went to college 3 different times and have 2 associate's degrees, one in management/computer applications and one in accounting.  I had to delay pursuing my Bachelor's in Accounting due to financial issues.  It bothers me to know I'm just 2 courses shy of graduating but $1800 short of paying the tuition!   But nevertheless, I've never backed down from a challenge.  People would tell me when I was younger that I couldn't do something and I would work hard to prove them wrong! 

I'm used to the whole hearing loss issue, however I'm not used to losing my eyesight and I don't think I ever will.  I'm reminded over and over again that I'll never see like I used to.  Every time I go to read an article or watch a movie, I see "snow" and white rings floating around.  As frustrating as it may be, I know that I'll continue to fight until the end.  Because let's face it, I was born fighting my way into the world and I'll definitely go out fighting as well!

Tuesday, 11 November 2014 00:00

What is Usher Syndrome to Me?

What does Ushers Syndrome mean? That was the very question I had asked myself when the doctors told me I had lost some of my eyesight and that I would very slowly continue to lose more. I didn't think they were telling the truth at first. How can you live your life and not know that you are are somewhat blind? My name is Clare Weigel, I'm from across the pond in Florida and I am 17 years old. I had the pleasure of going to the Boston Ushers Syndrome Coalition over the summer where I learned I was not alone. 
Before I found out, I had no idea that this had been slowly happening over the years and caused my deafness also. This all began with a routine eye doctors appointment. The doctors saw something wrong with my retina and I was sent to a couple of other places until the place where I had a full day of long, tiresome tests that included one with flashings lights in a pitch-black room for over two hours and many more. The irony is, that as I went through all of this, was that I thought they weren't going to find anything wrong.
After the tests were completed, I was in shock when they first told me, no tears nothing. Then they said it was illegal for me to drive, then all of my emotions came flooding out, whatever little independence I had, was gone. I had lost all of my peripheral vision and night vision, but still maintained good central vision. But I would slowly lose more. 
After, I kept it to myself, worried that people were going to treat me differently, like I was handicapped. Which in reality, I was. I had tripped over backpacks in the hallways at school, run into people since I couldn't see them, and stumble around hopelessly at night since the disease also took away my night vision. People think I'm rude if I can't see them if they're right in my blind spots. I often wonder if I should really tell them the truth. This is one of the "hidden disabilities", it's not always noticed that I'm deaf. Now I was categorized with the "blind" people as well. 
For months, I would think about it and wonder why had God given me more problems? It was already challenging to be deaf but to be deafblind?  I already had problems of my own, I didn't need this. Then, I began to tell my closest friends and I was amazed. They were nothing but helpful and kind about all of this! They guided me at night, listened while I ranted about the unfairness of it all, and they were there for me. Now, I know that people are genuinely good at heart if you are willing to give them a chance. 
When I was on a choir trip with my school to Jamaica last spring, we were singing to people who had less than us and they had pure joy in their hearts. I wondered if I could be as joyful as they about my disease? Then we went out one night as a break from singing, we were on a catamaran boat. We left in the late afternoon and as we were out on the blue waters, I realized the sky was getting dark. I was slightly panicking because there weren't any lights at all on the boat or the dock (which we had to cross over another boat to get to) then I realized I needed to ask for help. I absolutely hate asking for help! However, I asked a friend of mine who was more than kind enough! I learned a big lesson from that trip, I need to be happy with Ushers and know it is perfectly okay to ask for help.
I am a cheerleader for my high school and often, I have difficulty hearing the counts/calls for cheers and seeing the girls next to me at football games. But it's a challenge which I am willing to take on and love doing! 
At the Ushers Syndrome Coalition, I met so many wonderful people who inspired me to think of Ushers in a positive way and its just a part of our identity. I met Molly at the family dinner and I was so excited just because she was British! Then as I talked to her, I had a realization that I needed to pull it together and get over the fact that I was deafblind. 
There are still moments where I wish I could be able to do some things that my friends get to do since a lot of it is usually in dark and loud places. But I've learned over the years that I'm not really missing much. 
What is Ushers Syndrome? It's not a disease, it's just a part of me.
What does Ushers Syndrome mean? That was the very question I had asked myself when the doctors told me I had lost some of my eyesight and that I would very slowly continue to lose more. I didn't think they were telling the truth at first. How can you live your life and not know that you are are somewhat blind? My name is Clare Weigel, I'm from across the pond in Florida and I am 17 years old. I had the pleasure of going to the Boston Ushers Syndrome Coalition over the summer where I learned I was not alone. 
Before I found out, I had no idea that this had been slowly happening over the years and caused my deafness also. This all began with a routine eye doctors appointment. The doctors saw something wrong with my retina and I was sent to a couple of other places until the place where I had a full day of long, tiresome tests that included one with flashings lights in a pitch-black room for over two hours and many more. The irony is, that as I went through all of this, was that I thought they weren't going to find anything wrong.
After the tests were completed, I was in shock when they first told me, no tears nothing. Then they said it was illegal for me to drive, then all of my emotions came flooding out, whatever little independence I had, was gone. I had lost all of my peripheral vision and night vision, but still maintained good central vision. But I would slowly lose more. 
After, I kept it to myself, worried that people were going to treat me differently, like I was handicapped. Which in reality, I was. I had tripped over backpacks in the hallways at school, run into people since I couldn't see them, and stumble around hopelessly at night since the disease also took away my night vision. People think I'm rude if I can't see them if they're right in my blind spots. I often wonder if I should really tell them the truth. This is one of the "hidden disabilities", it's not always noticed that I'm deaf. Now I was categorized with the "blind" people as well. 
For months, I would think about it and wonder why had God given me more problems? It was already challenging to be deaf but to be deafblind?  I already had problems of my own, I didn't need this. Then, I began to tell my closest friends and I was amazed. They were nothing but helpful and kind about all of this! They guided me at night, listened while I ranted about the unfairness of it all, and they were there for me. Now, I know that people are genuinely good at heart if you are willing to give them a chance. 
When I was on a choir trip with my school to Jamaica last spring, we were singing to people who had less than us and they had pure joy in their hearts. I wondered if I could be as joyful as they about my disease? Then we went out one night as a break from singing, we were on a catamaran boat. We left in the late afternoon and as we were out on the blue waters, I realized the sky was getting dark. I was slightly panicking because there weren't any lights at all on the boat or the dock (which we had to cross over another boat to get to) then I realized I needed to ask for help. I absolutely hate asking for help! However, I asked a friend of mine who was more than kind enough! I learned a big lesson from that trip, I need to be happy with Ushers and know it is perfectly okay to ask for help.
I am a cheerleader for my high school and often, I have difficulty hearing the counts/calls for cheers and seeing the girls next to me at football games. But it's a challenge which I am willing to take on and love doing! 
At the Ushers Syndrome Coalition, I met so many wonderful people who inspired me to think of Ushers in a positive way and its just a part of our identity. I met Molly at the family dinner and I was so excited just because she was British! Then as I talked to her, I had a realization that I needed to pull it together and get over the fact that I was deafblind. 
There are still moments where I wish I could be able to do some things that my friends get to do since a lot of it is usually in dark and loud places. But I've learned over the years that I'm not really missing much. 
What is Ushers Syndrome? It's not a disease, it's just a part of my life. If I had the chance to reverse it, I wouldn't do it. Because it has taught me so many things that I wouldn't know about life.f my life. If I had the chance to reverse it, I wouldn't do it. Because it ha
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.

Monday, 03 November 2014 00:00

Glendalough Trail - 1 November 2014

Well, here I am with some amazing friends and family( I'm the short one with red hair!!) getting ready to take part in my very first charity event here in Ireland to raise funds for the Fighting Blindness.ie.

It was an amazing but extremely tough challenge in the Glendalough Valley in the mountains in Co. Wicklow, especially as it was my first time partaking in such an event. Admittedly, I'm so delighted with myself for completing it and not even the sore legs can take the smile off my face. It was also a very important event for me personally, as while fundraising I decided it was time to reveal to everyone that I am losing my eyesight and that it is due to Usher Syndrome type 2. Only some of my close friends and close family knew beforehand, and even though they had given me enormous support and still continue to do so, it was time to make others aware. I wasn't diagnosed with Retintis Pigmentosa until March 2013, a few weeks before my 34th birthday. It was with complete and utter shock to learn of this diagnosis and I don't think i could ever forget that day, how could anyone really? After diagnosing me with RP, it suggested that it could be due to Usher Syndrome and I was urged to find out more about this condition. I left the ophthalmologist's office having heard his words but not comprehending what he actually meant. It was only when I got home and like everyone does, I 'Googled' it all. That's when it hit me, I'm going blind. When he spoke of my eyesight getting worse and worse but hopefully I might have good central vision for another 10/15 years, that's what he meant, I'm going blind. He talked of the possibility of gene therapy which looks promising but probably not for another 15/20 years, he meant I'm going blind and there's no cure at all. It was really difficult to believe that I was having to deal with going blind when I was already deaf. Kept thinking was this 'supposed god' having a laugh? Reading up on Usher Syndrome, I knew straightaway that it was what I had and more than likely it was type 2. It really was like reading about myself. Genetic testing later showed that I do indeed have Usher syndrome type 2 (USH2a). It was awful though, having to tell my parents that the hearing loss was in fact genetic (previously thought it was due to an infection) and that I am also going blind now. I know they did blame themselves for awhile but I'm hoping that with me being open and honest with others about it, it will show them I will be just fine. I came across Molly Watt during my first Google search on Usher Syndrome and kept thinking wow, fair play to her for all that she was achieving and not letting it hold her back. I really admired this girl and I still do!! I also came across Mark Dunning and the Usher Coalition, Megan Kennedy and many others, and the positivity and faith they had but yet being totally honest with how hard it can be was admirable. They all gave me the strength to believe that I can still achieve things in life despite it getting harder to do so. After a year and half of coming to terms with the diagnosis, I realised I didn't want to hide it anymore. I did hide my hearing impairment and I had left it to others to guess that I was so. But hiding going blind... no, that would be so draining and completely unnecessary. So I put up on Facebook the link to my fundraising page where I explained briefly what I had and how it was affecting me. It really worked out well as I had a lots of people talking about it and it really raised the profile of Usher Syndrome in my area which I'm delighted with.. Also by raising awareness of the condition I was hoping to get support and understanding in return, and that is happening. The amount of support I got was overwhelming! There is still some way to go though with raising awareness and making others understand how tough it is. But sure it's only the start of my journey with Usher and I intend to make it a posiitve one even if it does get a bit bumpy along the way.

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.
Friday, 24 October 2014 01:00

Hi "I am Claire"

Hi I'm Claire Cooper and I have Usher Syndrome type 2, I've been partially deaf since birth with 2 digital hearing aids but never considered myself deaf as I've always been oral and never needed BSL. I had help where needed throughout school and college. 
 
When I left college I began a career in the hospitality industry working in bars and clubs I was living a normal teenage life. But then when I hit 20 I began to notice the spotlights at work were becoming an issue among many other things like bumping into lampposts and falling off curbs etc, and soon became known as "Clumsy Claire".
 
At 21 I got married and only a month later we got the answer as to why I had been so clumsy.... Usher Syndrome
 
Well that took the wind out of my sails and really knocked our honeymoon period into a downward spiral, I couldn't see the light So became depressed and questioned my marriage as I didn't want my husband to become a carer, it felt like I had been given this life sentence and wondered what I'd done so wrong to deserve this. I learnt the prognoses and thought my life was over. 
 
My husband was amazing he said he would stick by me no matter what, that he would always be there.
My parents and family took it hard with self blame as its a genetic condition but they too said they would support me through everything I did. 
 
I also found Molly and Jane Watt before MWT was born.  They were the first people I discovered with a link to Usher, when I discovered my diagnoses I'd never heard of it and felt alone so to find these amazing people really showed me the light, even though Molly is younger than me she was so positive and was achieving so much, her mum is such a fighter too helping so many with Usher Syndrome overcome obstacles if something isn't right then Jane is there without question. 
These people are amazing and have helped me through so much they don't even realise, without them I don't think I'd be where I am today.
 
Which is a Mother to a Beautiful 3 year old girl, we decided to move our life plans forward so I could see my child grow up while I still have sight. I'm also a Guide Dog owner, my dog Minnie has been another little life changer and has firmly put our lives back on track. 
I also enrolled myself into Open University to start studying again which without Jane and Molly's help I don't think I would have ever considered again. 
 
Usher Syndrome may have been the worse news I've ever had to hear and also the biggest life changer but it's made me who I am today thanks to the amazing people around me I've become a fighter and a person who has Usher and proud!