Myles & Georgia
Myles in his 2023 photoshoot - All photographs by Cerdiwen Hughes
Today Myles is a gorgeous, happy, sociable, incredibly strong and loving four year old, whose Mum Georgia is rightly so proud of him, and how far he has come. From the moment he was born life hasn’t been easy for Myles, or Georgia. When he was born he wasn’t breathing and needed resuscitation, the memories of her baby boy undergoing life-saving chest compressions are ones that will stay with his Mum forever. As part of the routine testing that all babies have it was discovered that he was severely deaf, as he failed the newborn hearing tests, twice. He was also found to have hip dysplasia, a curvature of both pinky fingers and six natal teeth. Georgia recalls “the doctors seemed more shocked by the teeth, but not really by his little fingers which they seemed to suggest might be ‘just’ a birth abnormality.”
In the weeks that followed Myles had multiple appointments with different teams, across different departments, and the first of what would be many procedures and operations. By four weeks old he had been fitted with his first hearing aids, and the orthopedic team had begun treatment for his left hip dysplasia. Watching your child go through long and painful operations and recovery is not easy but harder still when they don’t yield the results so desperately hoped for. As Georgia explained, “unfortunately, despite two operations and several different braces, nothing's been a success. I thought that was why he couldn't walk or stand because of his dislocated hip. And the orthopedic surgeon said that he didn't think that was the case because he has lots of patients that can still stand and walk, so he thought that he had cerebral palsy to begin with.”
Myles has 4H leukodystrophy (4HL)
Over the course of the first years of his life, Myles didn’t meet the expected developmental milestones, he wasn’t babbling, crawling, or trying to pull to stand. In addition, his doctors were unsure of why he was deaf and wanted to conduct an MRI scan on his ears. Because of his developmental delays, it was decided to conduct a more detailed MRI scan to include his brain and his spine to get a clearer picture of what the possible issues might be. That MRI scan would prove to be truly life changing for Georgia, and for the hopes and dreams she had for her little boy. “Because I was so focused on finding out why he was deaf, I did not think about anything else, and then a couple of months later I just got a phone call with the results. So then when they were saying that they found nothing on his ears I was just relieved, and then they said ‘BUT’ and my heart sank. They went on to talk about the findings of his brain. Because of the age he was at the scan, 18 months old, they said they wouldn’t perform another MRI yet because myelination in the brain doesn't fully develop until children are 2 years old.”
The second MRI scan took place when Myles was 2 and a half, and more issues of concern were found, which in turn prompted the decision to begin genetic testing. The results of the genetic tests took approximately 8 months to come back, but by the time the results were shared with Georgia she already knew what they would be. “While I was waiting for the results I did a lot of research behind the scenes and I became part of the YaYa Foundation community. Before his diagnosis the foundation gave me Dr. Wolf's details (Dr. Wolf is the leading expert on 4H Leukodystrophy) and I emailed her. I felt strongly that he had 4HL so I said ‘please, can you look at his brain scan’? And she confirmed it before they did in the UK so when I got that phone call, I was just like, ‘yeah, I know’.”
Myles smiling at his 2023 photoshoot
Once Myles had received the diagnosis for 4H leukodystrophy (4HL) so much more made sense, for example, the spasticity and dystonia were part of the condition, where previously it was felt he might have spastic cerebral palsy. It also meant that Georgia, who had been a strong and active advocate for her son since birth finally had the answers she needed to focus on giving Myles the best outcomes possible. It was this determination which drove her to fly with her son to Amsterdam to meet with Dr. Wolf, to fully understand the condition that he had been diagnosed with. Georgia explains that “I don't have the words to describe how amazing it was to spend one hour with this woman, so much information that came from the meeting was never brought up by the doctors here.
For example, she told me chickenpox could be fatal, so he needed to be vaccinated which I then organized. She advised using antibiotics over the winter months, which his immunologist never suggested. She also discussed the importance of a feeding tube, whereas before we’d seen Dr. Wolf there was no suggestion of.” Because although he currently eats orally the condition is progressive, and Georgia has been told that one day Myles will no longer be able to swallow. In addition, he struggles to put on, or maintain, his weight, so introducing a feeding tube will both support his nutrition in the short term and be necessary in the longer term.
A black and white image of Myles
Over the coming months and years he will need other operations too, and Georgia is trying to work with the different teams to ensure that as many of the treatments, investigations or indeed operations as possible are done at the same time to reduce the overall impact on her beautiful boy. The difficulties and pain his condition can bring, especially when he experiences painful dystonia flare ups, are not always easy to manage, for him or his Mum. Because of course as a Mum all Georgia really wants is for her son to be happy, to thrive, and in many ways he is. He attends a special needs school where he is supported by a lovely 1:1 TA, and where he will be full time in September. He is a full time wheelchair user with amazing self-propelling skills! Indeed Georgia recalls with pride how when she first took him to trial the wheelchair he was immediately able to use it in a way the team there said they very rarely see. Although non-verbal he has lots to say and can communicate with those who know him well using nonverbal sounds and gesturing or pointing. But as 4HL is a progressive disease over time he will face new challenges, which Georgia is determined to try to manage as best she can. These challenges will in all likelihood mean taking Myles back to Holland to see Dr. Wolf, as the Amsterdam Leukodystrophy Centre where she is based continues to be the world leader in terms of treatment and research. “Myles will need MRI scans every two years, so they can watch the progression of the disease, as well as specialized blood tests that detect the neurofilament light chain (a structural protein) that they don't do over here, and that reveals a lot.” Frustratingly whilst Dr. Wolf has offered to work with the NHS teams that care for Myles, Georgia has been told that ‘this is not within current NHS protocol.’
Unfortunately, there are no cures or real treatments for 4HL at the moment, rather symptoms are managed as effectively as possible. The 4HL community is excited by the possibilities that gene therapies might bring, which are believed to be just ‘around the corner’, perhaps even within the next year or two. Unfortunately, these treatments will not be offered to Myles. It is heartbreaking for his Mum to know that not only Dr. Wolf but also a second expert, Dr. Bernard in Canada, have agreed that ‘he wouldn't qualify because he's too severe.’ It is possible that had he been screened at birth, and had the treatments been available at that time, he might have qualified, and so Georgia is adding her voice to the campaign by the 4HL community to add leukodystrophies to the conditions that are tested for as part of routine newborn screening tests.
Reflecting on the last four years Georgia said that “as he was born with different things it's just been constant since he was born, it's just been one thing after another from the beginning.” His Dad left while he was still little, in large part because of the diagnosis they had received for Myles. Georgia explained that this was truly “shattering for me because I feel like it's also too overwhelming for me at times.” But Myles is a lucky boy because whilst the severity and complexity of his condition cannot be underestimated in any way, in his Mum he has the most determined, the most committed and the most proud and loving advocate.
Myles and his mum Georgia
FIND OUT MORE
Conditions
Severe bilateral hearing loss – Hearing loss that affects both ears is referred to as bilateral hearing loss.
DDH - The term developmental dysplasia of the hip (DDH) represents a spectrum of conditions affecting the proximal femur and acetabulum, ranging from acetabular immaturity to hip subluxation and frank hip dislocation.
Clinodactyly - Clinodactyly refers to the curvature of a digit (so a finger or toe), most commonly the fifth or ‘little’ in towards the other fingers. Although it is a fairly common isolated anomaly it can also occur in combination with other abnormalities in certain genetic syndromes.
4H leukodystrophy (4HL) - 4H Leukodystrophy is a rare disease of the central nervous system, which belongs to a larger group of conditions called leukodystrophies. These diseases affect the white matter of the brain and damage the myelin sheath (which surrounds and protects the nerve cells in the brain and spinal cord). The name 4H stands for Hypomyelination, Hypogonadotropic Hypogonadism and Hypodontia. The disease can also be referred to as POLR3-Related Leukodystrophy or 4H Syndrome.
Support
YaYa Foundation
YaYa Foundation are driven by the dream that one day, every child with 4H Leukodystrophy will have the chance to live a long, healthy life.
They fight for these children by acting as a catalyst and a connector—bringing researchers together to accelerate the pace of discovery, while connecting families with vital education resources and emotional support.
YaYa Foundation won’t stop until we find a treatment and, ultimately, a cure.
To find out more about the YaYa Foundation and how they can support you, click here.
The Leukodystrophy Charity (Alex TLC)
Alex TLC is a trusted and experienced organisation offering support and information for all those affected by leukodystrophy. Formerly ALD Life, an internationally recognised centre of excellence for people affected by adrenoleukodystrophy and adrenomyeloneuropathy, the charity was established in 2004.
Due to popular demand, ALD Life extended their services to support all leukodystrophies in 2019 and became Alex, The Leukodystrophy Charity.
To find out more about The Leukodystrophy Charity (Alex TLC) and how they can support you, click here.
Source: https://www.alextlc.org
Amsterdam Leukodystrophy Center
Diagnosing leukodystrophies, understanding their mechanisms and finding treatments for them. That is the goal of the Amsterdam Leukodystrophy Center. Thanks to the close collaborations between clinicians and basic researchers, they are able to translate new findings to clinical studies, to improve care for patients.
To find out more about the Amsterdam Leukodystrophy Center and how they can support you, click here.
National Deaf Children’s Society
The National Deaf Children’s Society’s vision is a world without barriers for every deaf child. They believe that together we overcome the social and educational barriers that hold deaf children back.
To find out more about the National Deaf Children’s Society and how they can support you, click here.
Source: https://www.ndcs.org.uk
You can read about some of the other people taking part in the Rare Project by clicking here.
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