Your Stories

During the summer Abby Gardner, who is affected by WS and a Trustee of WSUK, was given with the opportunity to participate on two medical related panels. Below is her account.

The first panel was at a Bionical Emas company conference. Bionical Emas is a company that aims to combine clinical development, clinical access supply and early access programmes. This means that access to clinical trials will be made easier for patients. During this panel, I was asked to speak about my experience of clinical trials. I have only taken part in one clinical trial, so I spoke about my experience of the TREATWolfram trial, which is currently running.

I was very nervous about presenting in front of an audience of approx. 200 members of staff. Being registered as severely sight impaired, I was worried about walking onto the stage and taking my seat in front of everyone. I partially tripped off the stage, but was able to regain my composure and carry on with the session. I received very positive feedback and a donation to WSUK as a thank you.

The second panel I took part in was at a LifeArc event. LifeArc is a UK medical research charity that aims to support and progress Scientific research. This means that current scientific theory can become trials and eventually treatments for rare diseases.

Once again, I spoke about my experience in the TREATWolfram trial. This was a very different experience and once again I received positive feedback.

Both of these opportunities allowed people to ask questions about living with a rare disease and the clinical trial experience. They also enabled me to talk about the importance of Patient Advocacy.

Patient Advocacy is becoming a key part of clinical trials, meaning patients are now becoming not only more involved, but central to clinical research.

An effort is being made to make clinical trials more accessible to patients.

After five and a half years of study with the Open University, on 25th October 2022 Georgina got her results for her degree. For her dissertation on optic atrophy in WS, she got 81%. For her degree she earned a 2:1 BSc in Health Sciences.

Well done, Georgina!!

Read Georgina’s dissertation by clicking the button below.

When I moved to a new town, I obviously wanted to get to know the community here and to “fit in.”  My sister suggested I join the Women’s Institute. I had an image of a group of older ladies who were only interested in jam and Jerusalem, not that there’s anything wrong with that, but it’s not my scene so I refused to go along to a meeting. My sister persisted though and found my local WI had a walking group. I love getting out for a good walk so that definitely was my scene and my sister and I went along. We joined a group of about 15 other women all about the same age as us, so in their 40s and 50s. The chairwoman is actually in her 30s!

I started in the community radio some years ago on reception answering the phone and helping anyone who came in from the street with their enquiries. Some months ago, the radio manager, Declan said to me if I ever wanted to do my own show, just let me know.

I turned him down. The following week while in the radio station I got talking to the manager and reversed my earlier decision. Declan in a meeting then teased out of me that I had no experience when it came to presenting a show on radio.

To read the full piece click the button below.

When I caught indoor bowling on TV I fancied having a go and marvelled at how they got the curve of the ball right to reach the Jack.

When a man with a guide dog, who I barely knew, said he was getting interested people together for Crown Green Bowling, I thought I would give it a go.  Luckily a few people who attended had bowling experience for those of us with no idea!

I learnt how the balls…um I mean woods are weighted on one side to make it curve towards the Jack. Although the greens appear completely flat they have areas which have gradients away from the centre of the ‘Crown’ which we have to get used to and learn how to use the weight in the woods with the variation in gradient on the green (this is where the name ‘crown green’ comes from).

Now I and my guide dog Maggie meet several other people and dogs, who wait patiently, while we play the gentle game, sometimes holding competitions and planning trips! Our helpers are fantastic, standing in their hi-vis jackets marking where the jack is that we need to aim for, and preparing tea and coffee refreshments during the 2-hour session.

Here is the 2020 entry by Manchester University Medical Student Sofia Christoforidis  for the Findacure and Medics4RareDiseases Student Voice Essay Competition.

She was paired up with WSUK and put in touch with some of our members to enable her to gather the information to write her entry.

Spring comes with its buds of hope & refreshes my mind & spirit with the wonderful knowledge I gained from my floristry course at college.

Floristry called to me as I never once thought I could achieve a distinction in that field due to my visual impairment and partial colour blindness. The flowers, shapes, fragrances and textures invited me to an everlasting sensorial journey through Nature. I learnt that I do not have to see to feel, smell or create a Seasonal or Special bouquet.

Floristry has inspired me to look into creating even more products like Fragranced candles with fresh dried flowers in them and scrubs with pure essential oils of flowers merged into becoming a perfume expert which is a knowledge I would like to include in my future business plan.

At present with all this time spent at home it takes me back to my floristry as it’s something I love doing at home like making and decor.

I am Ayan Bukhari, a patient who has WS. During lockdown in March 2020, I was bored out of my head! University was closed, our exams had been cancelled, I had nothing to do! However as I have always loved to do origami, I started my own Instagram account @origamibyayan so I could post pictures of items that I had made.

Origami is an art, that originated in Japan, which involves folding generally a square piece of paper into different shapes and objects. I find that origami is a therapeutic technique which can be used to practice mindfulness because it requires you to focus on the folds therefore bringing your focus to the present moment.

It has even helped me make objects which I can then stick onto cards for different occasions such as birthdays, wedding and anniversary cards. This has helped me to gain confidence and find a hobby which I really enjoy doing and allows me to showcase my work to others.

Why not have a look and try it yourself?

Fourth year medical student, Melihah Hassan who was paired with WSUK, took part in the Findacure Student Voices Essay Competition at the end of 2019. Her essay was short listed and awarded with a Highly Commended. Thank you to our WS member who was happy to speak with Melihah and provide her with the information for her essay. Thank you to Melihah for deciding to choose Wolfram Syndrome as her topic and raising awareness of the condition.

I have been given permission by Finnegan who was diagnosed last year to share his blog that he published with you all.

On Wednesday 19 February 2020 Amy and I got married. It was the happiest day of our lives. We had a small, intimate wedding at a country house in Rye and it was truly memorable. I feel so lucky to be married to the girl of my dreams.

We met each other on the WS Facebook group in June 2018. We messaged each other a couple of times, but when we did a call we felt an instant connection. From then on we did video and audio calls multiple times every day and we both knew that we wanted to be more than just friends. In April of 2019, I visited Amy in Houston, Texas and we got engaged.
I visited again in October and Amy was granted her visa in November.

Things haven’t been easy but we were determined to be together and despite all the difficulties, Amy finally came to the UK on 4 January. Now we don’t have to worry about anything – we are stronger together and we are looking forward to spending the rest of our lives as husband and wife.

Written by Jared Bennett

Review of the Findacure Drug Repurposing Conference 27th Feb 2018 where Tracy Lynch CEO and Co-Founder of WSUK was asked to speak about her family’s personal experience of WS and the formation of the charity.

A blog piece that was written for Genetic Disorders UK  March 2017 by WSUK’s CEO/Co-Founder Tracy Lynch.

Little did I know that Mother’s Day, 18^th March 2007, would be the start to my life and that of my family changing completely!

My daughter Jennifer, then aged 5, had an eye check with the local optician as we had some concerns regarding her vision. We were told that she was long sighted, nothing too major, but she also had Nystagmus, or as the Americans like to call it ‘Dancing Eyes’. It wasn’t noticeable and there was no explanation why she had it. This needed exploring and so began 3 years of tests and numerous trips to Great Ormond Street Hospital (GOSH), almost every month, to try to find the root cause of the Nystagmus. During these 3 years Jennifer was also diagnosed with a neurogenic bladder (too small for her age) and Type 1 Diabetes. When we got that diagnosis our lives completely changed! It felt like we were going through a period of grief. We could no longer be spontaneous with our plans and days out. We had to plan where we were going to be for meal times and snack times; and had to learn to inject our 6 year old daughter with insulin. This wasn’t something we had ever envisaged doing. There was no history of it in the family after all.

On 17^th March 2010, just 3 days after Mother’s Day we received our 3^rd life changing moment. My husband, Paul, Jennifer and I were taken into a room at GOSH by 2 of her consultants and given the news that Jennifer had a rare progressive condition called Wolfram Syndrome (WS). They couldn’t tell us anything about it as they knew nothing, they just handed us 2 pieces of A4 paper with a print out from a world wide support group and some information about a doctor in the UK that was researching the condition. That was it!

The first few weeks were pretty dark for us, but for Jennifer’s sake and that of her 2 older brothers we had to keep positive. We did online research to try to find some support and anyone that knew anything about WS. We joined the worldwide support group as a starting point but just felt so frustrated that there was nothing else to help us. We felt that we needed to do something, so we contacted Professor Barrett at Birmingham Children’s Hospital who was researching this condition and explained that we wanted to start a support group in the UK and would he help us by providing the correct medical information about WS. This helped us to focus and to start feeling a bit more positive as we were doing something to help us and the few other affected families we knew about in the UK. The whole family became involved as we started fundraising towards research by becoming involved with another charity, WellChild, who were supporting Professor Barrett’s work at that time.

To give you some facts about Wolfram Syndrome – it is a rare progressive, neurodegenerative genetic condition. The main features are Type 1 diabetes, Diabetes Insipidus (water diabetes affecting the bladder), Optic Atrophy (death of the optic nerve causing sight loss) and deafness. It can also cause anxiety, depression, sometimes aggression, as well as other neurological problems, loss of gag reflex and respiratory issues. It is a life shortening condition. We know of about 100 people total, adults and children who are diagnosed with WS. There is no cure and currently no treatment but a clinical drug trial is due to start later this year. This is everyone’s candle of light, our beacon of hope!

Life is certainly not easy, especially as 5 years ago we had yet another change in our lives when Jennifer had to have a ‘temporary’ Tracheostomy tube inserted following a severe choking attack requiring a spell of 3 weeks on a ventilator and this was the only way to get her off it safely. Following this I had to give up my job as a part time accounts assistant and become her full time Carer. This isn’t easy as many of you full time carers, especially with teenagers will know. Apart from when she is at school I am with Jennifer 24/7. She can’t be left alone at home as her tube might need clearing and she is unable to do this herself as she is vision impaired, registered Severely Vision Imapired. That is another frustration as she can’t go out by herself.

Since the trachy was put in she has changed mentally. She was always a bit ‘stressy’ but even more so now and never wants to go out  Her dad does help out in the evenings and weekends when she is an absolute angel for him! With me I get the teenager from hell.  We clash so much as we are both so alike being very strong willed and stubborn. This is great in a way for Jennifer as I know that she will fight for what she wants. It just gets very wearing when you are faced with it all the time. In the times when I get lovely Jennifer it is wonderful! She has a very dry sense of humour, she is very arty and is producing some lovely pieces which we are very proud of and tell her so. This of course helps boost her confidence. She loves playing jokes on her dad and keeping fun secrets from us. These are the times that I as her mum treasure. These are the times that life seems normal. We don’t see her as a girl that wears glasses, requires a white cane, has to have her blood glucose checked and injections 4 times a day and has a piece of white plastic sticking out of her neck but as our special daughter. We try to keep life happy and positive for her and her brothers. There is no point in worrying about what is going to happen 2 years, 5 years down the line. We just need to focus on the here and now. I don’t always have the daughter that I love facing me every day but I know that deep down inside she is there trying to get out but for this condition.

Would I have my life any other way? I don’t know. It might not be as frenetic but would I be as happy as I am. Mother’s Day this year will be spent flying back from a meeting in Italy where I am giving a presentation about being the mother of a child with WS and then hopefully being taken out for a slightly late lunch, once I land, and to be given a card that I know Jennifer has secretly made for me. If only she could learn to whisper quietly!

For the trip to Norway I went with my mum, dad and sister. We went for 7 days from 14th-21st February. We flew from Heathrow to Oslo and then got a connecting flight to a town called Tromso in the North of Norway.

We stayed in Tromso for 2 nights, there we had heavy snow and got caught in a mini snow storm, but it was great fun having snowball fights and walking through the deep snow. We also went on an excursion to go on a reindeer sleigh, I loved it! On Tuesday we got on the Hurtigruten boat, we stayed there until Wednesday night. The boat took us from Tromso to a town called Batsfjord further along the coast. On the boat we went out on deck and stood looking at the views of the mountains.

Late on Wednesday evening we arrived at another hotel where we stayed for one night. The next morning we went king crab fishing on the fjord. We went on a speedboat, the wind was icy cold! I don’t eat crab because I’m vegetarian, but I enjoyed the experience. We then got a taxi to Kongsfjord, a tiny village with a population of just 25 people! There we stayed in a guesthouse, we were treated like family by the owners, they were very accommodating of my diabetes, making me special meals with less sugar.

The guesthouse was surrounded by the tundra, hence one night we had 47mph winds! And because there was no light pollution we were able to see the Northern lights on a Friday evening! To me they were very faint, but mum and dad described them to me. At the guesthouse they gave us traditional Norwegian foods, like pickled vegetables and waffles. We also went snowshoeing on the tundra.

On Saturday morning, we left early to get a flight to the town of Kirkenes which was close to the Russian border. We went on another trip to see the snow hotel, which was a hotel made of snow with ice sculptures, it was very pretty. There I also got to try some sledging! After staying at a hotel overnight, we got a flight to Oslo and then back to Heathrow.

The trip was unforgettable; I had the best time of my life. The things I saw will remain in my memory forever, despite my vision worsening. I would recommend that all young people/ children with WS should apply for a wish, it is an eligible condition. The opportunity to see such amazing things and have a break from hospital appointments is priceless!

Co-founders of WSUK, Paul and Tracy Lynch were awarded the PM’s Pride of Light Awards on 15th June. To read more about this and what the Prime Minister had to say click here

On 11th October 5 members of Exmoor Young Farmers partook in a sponsored bike ride, across all terrain in aid of a cause which is close to the clubs heart- Wolfram Syndrome.

As a club, Exmoor Young Farmers, we decided to raise money for Wolfram Syndrome UK because it’s close to our hearts.

One of our members, George Jones suffers from this rare genetic disorder. Our sum of £800 which was raised will go to the charity to help support and fund them to increase awareness of this syndrome but also to provide more research.

The ever challenging Bike ride started in Exford; the 5 members climbed up Mill Lane and across to the Land Sight of Dunkery Beacon. They then took advantage of the downhill decline into Wheddon Cross, down to Coppleham and then onto the village of Winsford.

The road soon inclined again with a steep climb out of Winsford via Ash lane heading towards Withypool. At Withypool it was time for a pit stop, where they were welcomed by Tony and Anita into the Tea rooms for a refuel, ready for the next step of the journey which was up Kiteridge Lane out onto Bradymoor, Pickedstone Plantation where they then followed the river up through to Simonsbath.

This was then the home straight for them, Simonsbath to Exford where they were cheered into the local pub to celebrate them finishing.

A member of my church, Graham Scott who is also a senior director in clinical pharmacology at Takeda, a large Pharmaceutical company, approached me in June to ask if I would be interested in talking about Wolfram Syndrome for their conference on rare diseases in September. The idea was to focus on putting patients at the heart of research and consider the person not just the disease. I was very keen and willing to take part as this would be an ideal opportunity to raise awareness of WS and share my experiences. My mum suggested that it would be good to also invite Professor Barratt to attend and talk about the research currently being done in this area.

The company arranged a chauffeur driven car to take us to the venue at their offices in London. I felt nervous but excited to be involved. The conference was made up of clinicians, researchers, scientists, communications and administrators and approximately 130 people attended.

It was opened by Atsushi Ogawa Ph.D, the Takeda Europe Site Head, and he explained that the aim of the conference was to gain a better “understanding of patient perspectives and needs and to enhance better decisions in clinical development”.

The next speaker was Bernard Souberbaille M.D Ph .D FFPM, Senior Medical Director at Takeda. He spoke about different rare diseases and explained how rare diseases can help common disease research e.g gene therapy but also how common diseases can help with rare diseases and treatments. He went on to explain that Takeda were already working on research into rare diseases and looking at innovative ways to take this forward.

Professor Barratt then spoke about the background and latest research on Wolfram Syndrome.

It was then my turn and Mum and I took our positions at the front of the audience on high stools which made me think of “Blind Date”! Professor Barratt then interviewed me on various aspects regarding WS. For example, getting a diagnosis, the progression of the condition, the impact on my life and my ambitions for the future. I thought it was important to explain what it was like living with WS but also to say that we should all be treated as individuals and not as the condition. I wanted people to know that it was important to involve those with rare diseases
in research. I also wanted to explain that having WS has made me more determined to succeed. It was great to have Professor Barratt doing the interview as it helped to put me at ease.

The audience was then invited to ask any questions. For example, Mum was asked for her experience on being a carer.

Graham said that the conference was a big success and they really appreciated our contribution and were very grateful to Professor Barratt for his talk on Wolfram Syndrome.

I really enjoyed this experience and I felt privileged to be able to talk about WS to such a wide audience and it is something I would be happy to do again.

– by Naomi Bennett