Can you benefit by gene therapy?

Who could benefit next from gene therapy that restored deaf toddler’s hearing?

Thousands of children across the world who suffer from deafness and hearing loss have been given hope after a ground breaking trial allowed a British girl to hear noises for the first time. Opal Sandy, aged 18 months, was born deaf because of auditory neuropathy, which is caused by the disruption of nerve impulses travelling from the inner ear to the brain.

Now, thanks to a “one and done” gene therapy trial being carried out in the UK and worldwide, Opal’s hearing is almost normal – and could yet improve after she became the first person in the world to take part in a ground-breaking gene therapy trial. Opal, from Oxfordshire, was treated at Addenbrooke’s Hospital in Cambridge. The surgeon and chief investigator for the trial said he hoped she would be the first of many people to benefit from new kinds of gene therapies that can treat inner ear issues, such as hers, and potentially other kinds of hearing loss as well further down the line.

“These results are spectacular and better than I expected,” said Professor Manohar Bance, a surgeon and chief investigator for the trial. “Gene therapy has been the future of otology and audiology for many years and I’m so excited that it is now finally here. This is hopefully the start of a new era for gene therapies for the inner ear and many types of hearing loss,” he said.

How does the treatment work?

Auditory neuropathy can be caused by a fault in the OTOF gene, which is responsible for making a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve. To overcome the fault, the “new era” gene therapy – from biotech firm Regeneron – delivers a working copy of the gene to the ear. In Opal’s case, she received an infusion containing the working gene to her right ear during surgery last September.

Opal’s surgery was very similar to fitting a cochlear implant, according to Professor Bance. He said the inner ear (cochlea) was opened and the treatment infused using a catheter over 16 minutes. “We have to make a release hole in another part of the ear to let the treatment out because it has to go all the way through the ear,” he said. “And then we just repair and close up, so it’s actually a very similar approach to a cochlear implant, except we don’t put the implant in.”

Can anyone who is deaf benefit?

Children with a variation in the OTOF gene often pass the newborn screening, as the hair cells are working, but they are not talking to the nerve. It means this hearing loss is not commonly detected until children are 2 or 3 years of age – when a delay in speech is likely to be noticed.

Professor Bance said: “We have a short time frame to intervene because of the rapid pace of brain development at this age. Delays in the diagnosis can also cause confusion for families as the many reasons for delayed speech and late intervention can impact children’s development.” 

ATR VIDEO

 

How many deaf genes are there?

There are around +-140  specific genes that can cause hereditary deafness, the exact number is not well-defined. Deafness can be caused by mutations in a variety of genes that are involved in hearing, such as those involved in sound perception, auditory processing, and the structure and function of the inner ear.

According to the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalogue of human genes and genetic disorders, there are over 1,000 known genes that can cause hereditary deafness or hearing loss. These genes are involved in a wide range of biological processes, including:

Auditory hair cell development and maintenance

Inner ear development and structure

Sound perception and processing

Auditory nerve function and transmission

Cochlear function and maintenanc

Some of the most well-known genes that can cause hereditary deafness include:

GJB2 (connexin 26)

SLC26A4 (pendrin)

TMC1 (transmembrane channel-like protein 1)

MYO7A (myosin VIIA)

OTOF (otofelin)

CDH23 (cadherin 23)

It's worth noting that many cases of deafness are caused by genetic mutations that affect multiple genes or pathways, rather than a single gene. Additionally, many cases of deafness are caused by non-hereditary factors, such as exposure to loud noise or certain medications.

Looks like the BSL Community has its work cut out.....

The Deaf hear again.

A baby girl born completely deaf can hear for the first time after receiving ground-breaking gene therapy. Opal Sandy from Oxfordshire was eleven months old when she was treated at Addenbrooke’s Hospital in Cambridge. She is the first British patient and the youngest child to receive this type of treatment.

Opal was born deaf because of a rare genetic condition, auditory neuropathy, caused by the disruption of nerve impulses travelling from the inner ear to the brain. Within four weeks of having the gene therapy infusion to her right ear, Opal responded to sound, even with the cochlear implant in her left ear switched off.  Clinicians noticed continuous improvement in Opal’s hearing in the weeks afterwards.

At 24 weeks, they confirmed Opal had close to normal hearing levels for soft sounds, such as whispering, in her treated ear.  Now 18 months old, Opal can respond to her parents’ voices and can communicate words such as “Dada” and “bye-bye.”  Opal’s mother, Jo Sandy, said: “When Opal could first hear us clapping unaided it was mind-blowing.

We were so happy when the clinical team confirmed at 24 weeks that her hearing was also picking up softer sounds and speech. "The phrase ‘near normal’ hearing was used and everyone was so excited such amazing results had been achieved.”

ATR COMMENT:  We know there will be mutterings this is a one-off success over a rare deaf gene, but ATR welcomes the brilliant work of those dedicated professionals attacking this pandemic of deafness and hearing loss.  We know certain deaf areas oppose intervention, but today nobody is going to listen to them.  Today one gene is addressed tomorrow maybe more, at least something positive is beginning to emerge, after years and years of 'breakthrough's' that never manages to.

The Third Degree.

Third space theory

E. Soja (1996) proposed a different way of thinking about space and spatiality. First and second spaces are two different, and possibly conflicting, spatial groupings where people interact physically and socially: such as home (everyday knowledge) and school (academic knowledge). 

Third spaces are the in-between, or hybrid, spaces, where the first and second spaces work together to generate a new third space. ‘Soja is anxious to avoid the common dualities of the social and the individual, culture/nature, production/reproduction, the real versus the imagined, (which pervade geographical analysis, arguing “there is always another way”

In short, deaf child campaigners want access to the deaf club, culture, language, community, in addition to Home (Space 1), education (Space 2), however with often no peers or mentors to interact with in mainstream, not really going to happen is it.  Isn't it just making a point mainstream isn't inclusive as activism sees it.  Deaf schools have gone we have to move on, and INCLUDE deaf people (Whether they want it or not!).

Anything for the Deaf

 

Who needs BSL?

A deaf Eastbourne boy  [LINK] has called on the Chancellor to invest in life transforming therapy

11-year-old Sam Callaghan is urging the Chancellor to make a commitment to invest in the specialist therapy which supported him to listen and speak and allowed him to have the same opportunities as his hearing peers. Sam, from Eastbourne, was diagnosed as profoundly deaf as a baby and his parents were both devastated and scared for what the future would bring.

Now Sam is flourishing at secondary school, loves science and making films, and is always talking thanks to the specialist Auditory Verbal therapy programme he attended as a young child. To mark World Hearing Day (March 3) and ahead of the UK Government’s Spring Budget (March 6) Sam is urging the Chancellor to make a commitment to invest the necessary funding, of just over £2million a year for 10 years, to ensure all deaf children under five have the opportunity to access Auditory Verbal therapy which enabled him to thrive at school and beyond. 

ATR: Which is cheap enough given the many millions the state has thrown at BSL and culture to no avail. 

Mum Joanna explained: “When we received Sam’s diagnosis we were so worried about his future. Would he make friends? How would he get on at school and develop interests in everything life has to offer? “But thanks to Auditory Verbal therapy he is absolutely flying. He is a real chatterbox and never stops talking especially about the things he loves like science and he is doing brilliantly at secondary school. We will always be so grateful for the support we had and how Auditory Verbal therapy transformed his life.”

More than 90% of deaf children who could benefit from an Auditory Verbal therapy programme are currently unable to access it and there are only 31 specialist Auditory Verbal Therapists in the whole of the UK.  This is despite research by YouGov showing that 80% of adults in the South East of England believe Auditory Verbal therapy should be available to all deaf children via publicly funded services (ie, the NHS), while only 2% think it should be paid for privately.

Auditory Verbal therapy is a robust, evidence-based approach that supports deaf children to learn how to make sense of the sound they receive through their hearing technology (such as hearing aids or cochlear implants) so they can learn to talk like their hearing friends. Research shows that more than 80% of deaf children who attended an Auditory Verbal therapy programme for at least two years graduated with spoken language on a par with their hearing peers – this figure rose to 97% for children without additional needs.

LINK (2) 

Deaf Teacher shortages in Wales

Liam O Dell A self-proclaimed and free-lance, 'expert' on deaf issues writing about ToD shortages in Wales, (But cut and pasting data and using English statistics?) shows how poor his awareness of his chosen subject he is. He could have pointed out only a few deaf children in Wales are assessed as needing specialist support, not enough to open a class or even a deaf school for them.

Wales has no deaf schools or BSL Act either. On the whole, mainstreaming is working in Wales, The issue is not so much ToD shortages, which were inevitable, given the total closure of deaf schools in Wales and ToD simply failed to find work, as deaf children were scattered to mainstream environments, ToD retired, or gravitated to areas were deaf schools still existed. The training of ToD hasn't included how best specialist teachers can adapt their job, to manage in mainstream settings. Many of them worked in specialists school areas, where the class make up and modus of tuition was quite different,.

Deaf schools in Wales (And we suspect elsewhere in the UK), failed to equip deaf children to manage mainstream, and abuse was par for the course, parents wanted that to end, wanted their deaf child to be included and accepted etc, attend same schools as siblings, not lodge in some large house in a field, miles away from family and everyone else. From supported education to supported adulthood, there was no real drive or acceptance deaf could do much else. The last 20 years endless discourse about HOW deaf should be taught (Sign? Oral? using technologies, CI's, hearing aids etc), but getting opposition from aggressive BDA and other areas demanding a cultural/BSL curriculum and attacking ToD themselves for not supporting it, and ignoring parental preference as well.

In retrospect the switch to mainstreaming in Wales, did not ensure sufficient back up was in place when it it was decided upon, and as stated, fully ensured when the switch occurred, the teaching staff had the tools to do the job. This left deaf activism with a cause celeb to create uncertainty, and increase demands for a 'back to the future' approach based on deaf schools and sign language. It was inevitable a minor percentage of deaf children were not able to reach potential due to the random support offered or available.

The government works on percentages, the majority are doing OK, which of course is little comfort for parents who feel their child is losing out. However we should not fall into the trap of suggesting this minority is an actual MAJORITY, headlines, aren't proof. From what we read (In Wales), it is deaf children in single figures whom parents feel are losing out via a ToD shortage. Apart from wage issues and training changes not being made, ToD need regular WORK, and it may simply not be viable for them to stay in one school for one child and still make a living. Local and cash-strapped Authorities reluctant, or unable to find the money to pay the wages ToD need, or even find them. It is an expensive training to be a Teacher to the deaf, potential recruits are not being seen. Perhaps a re-assessment of need is one way forward? Less than 8 deaf children in Wales, were assessed as being unable to be educated in mainstream.

BSL usage is falling, despite claims to the contrary. The NDCS fails to identify devolvement of care and support too, as Wales, N Ireland, and Scotland, have different approaches and needs to England, and, far less ability to hire or train professional support either, also regions make OWN decisions, just as England does for its deaf. The NDCS has NOT been made aware of devolved governments, and devolved decision-making either.

The NDCS like all major 'UK' charities refused to devolve themselves, or offer devolved areas their own charitable autonomy, still campaigning on a national basis that is no longer 'national'. NO decision England makes, can force any other region to comply. It is like insisting the circumstances in the Lake District are the same as inner London. The way we read it, the parents are struggling. At the end of a very long day parents decide where their children are educated or the systems do. Obviously availability of support and the cost are the main drivers. On the whole Wales has the best system of deaf support in the entire UK, including BSL support.