Rory’s Story

Our journey begins

Just before the lockdown period we were offered the opportunity to potentially establish the cause of Rory’s deafness from our local audiology department, of which we declined. It was during lockdown, after a 2 hour phone consultation with Rory’s paediatrician that we felt it would be a good idea to try and find some answers, just in case when he was older he had questions. So the testing began, Rory had blood tests to check for bone conditions, an ECG and an MRI. The only thing that came back was a small cyst on the brain – that we were told not to worry about. So finally we consented to a blood test for genetic testing.

The following 2 years became a roller coaster of emotions. Rory’s hearing deteriorated; particularly in the low frequencies (which we were told was uncommon) and during a routine ophthalmology appointment he had a suspected pale optic nerve. Although these things made us worry for Rory and his future we battled to get the best people to help him. We had a specialist paediatric audiologist, Rory’s highly skilled teacher of the deaf and an amazing speech therapist. Rory was also referred for cochlear assessment so this became our focus.

We needed answers

As we neared the end of the cochlear assessment process we contacted Rory’s paediatrician. Rory was clearly in criteria for cochlear implants and we wanted to check this was definitely the right thing to do. Rory’s paediatrician responded. We were happy; I wanted to check about his cyst on his brain and the genetic testing just so I knew in my heart we were making the right decision for Rory.

Then came the 16 February 2023, the date I’ll never forget. So after 18 months of waiting, Rory’s paediatrician delivered the earth shattering news Rory’s deafness was actually caused by a rare genetic disorder called wolfram syndrome, a rare genetic condition that affects around 1 in 550,000 children in the UK. Rory’s paediatrician had never heard of Wolfram Syndrome. It is caused by a mistake in the WSF1 gene. Symptoms may include; blindness, deafness, and diabetes, renal and neurological problems.

Since this day we have found out Rory actually has ‘Wolfram like’ or WSF1 related disorder.  There is very little known about the disorder but previous things that had happened on Rory’s journey finally did fall into place. Rory’s condition as it stands is presenting with profound deafness and the early stages of optic atrophy. 

We set to work

The moment I heard the news, which was delivered to me by a doctor who was as much in the dark as we were and who painted the most darkest of pictures for our beautiful boy, my instinctive response was to fight and fight like I’ve never fought before. Information was key and within hours of his diagnosis I had found some hope in the form of Wolfram Syndrome UK and Professor Fumi Urano, a specialist in America who’s email responses saying ‘yes…yes we can help Rory’. This would be the most important correspondence of my life to date and has set Rory’s future on a different path. Our wonderful family and friends have worked tirelessly to raise awareness and raised funds for us to visit him and his team, where Rory’s blood was taken to support the ongoing research which may one day, we pray, lead to a cure. 

Becoming a part of the wolfram community

So after visiting Birmingham Children’s hospital for 2 days, as a part of the Wolfram Clinic, Rory now has a much longer list of people who work together to monitor the progression of his condition. Rory saw an endocrinologist, neurologist, urologist, ophthalmologist and geneticist; he did not need to see an audiologist (who is a part of the clinic) as he has a clear diagnosis and pathway forward. We had the most incredible support from Wolfram Syndrome UK who help to coordinate the 2 days. We were also lucky enough to meet Prof Barret who is leading a team of specialists to research and develop potential cures for wolfram syndrome here in the UK. The overall purpose of the clinic is to improve and coordinate Rory’s care to give him the best healthy outcome possible as he grows older.

We shall never give up hope

As a family, myself, Rory’s dad and Rory’s brother, Reuben now take each day and each appointment as it comes. We are on the committee for Worcester Deaf Children’s Society, where Rory has flourished. We have been supported by others, including the exceptional deaf community. Rory and his brother are growing up bilingual as we are all learning British sign language. We are making the most of every day. Rory’s dad and I have really emotionally challenging days but then our blue eyed boy Rory will shake us up! We have a wonderful team at the midland hearing implant centre, which we visit every other week, where Rory’s speech therapist is working magic with him. Myself and Rory’s dad attended the wolfram conference in September 2023 to get the latest updates, meet other families and find out how we can help to support the specialists to find a cure for this rare genetic disorder.