Latest news with #InfantileNeuroaxonalDystrophy
Daily Mirror
3 days ago
- Health
- Daily Mirror
Our perfect son lost his balance - now we face a living nightmare
Freddie Elwood seemed happy and healthy until he was 18 months old when he started to lose his balance, strength and ability to speak A British mother has made an emotional appeal for help following the diagnosis of her young son with a rare and devastating illness that struck seemingly out of the blue. Little Freddie Elwood seemed a picture of health until he reached the tender age of 18 months, when he began to lose his balance, muscle strength and even the ability to speak. Emily, 33, Freddie's mum, said he became quieter and struggled with tasks he had once found easy. She said: "Life before Freddie's diagnosis was like any typical family of four: school runs for my oldest son Harry, forever in soft plays and spending lots of time with family and friends." Emily, from Essex, said: "Freddie could communicate with the few words he had learned, like ball or mummy and daddy. You could say to him 'what does a lion do?' and he would roar! "When he first showed signs like being off balance and being withdrawn, we didn't know what to think. We knew this was not normal but struggled to get anyone to listen." After eventually seeing a paediatric consultant, Emily, together with husband Louis, was confronted with the heartbreaking reality that Freddie's condition was deteriorating. The child had suffered further loss of motor functions and become almost entirely nonverbal - you can donate to help the family here. Emily said: "I remember vividly the consultant expressing huge concern and mentioning the word 'degenerative.' At the time I had not heard of that term. When looking it up, I kept saying 'that can't be, he was born ok and has been for 18 months'." Freddie was quickly scheduled for blood tests, an urgent MRI and a referral to Great Ormond Street Hospital (GOSH). However, as weeks passed, his condition deteriorated, reports Cornwall Live. "We knew it was something serious. I kept saying 'something is wrong but hopefully they have a treatment that will help him'," she said. In November 2023, the heart-breaking diagnosis was delivered: Freddie was suffering from Infantile Neuroaxonal Dystrophy (INAD), an extremely rare disorder affecting just one in a million, with no cure or hope beyond a life expectancy of 5 to 10 years. The news left them heartbroken. "We left the hospital knowing we had to go home to break the news to our family and navigate our way through this with our older son," Emily said. "Freddie was ready for bed when we got home, I remember cradling him, looking down at his little innocent face, sobbing. Our world fell apart." Now aged four, Freddie's ability to sit, crawl and swallow has significantly declined. He no longer communicates verbally and has a limited understanding of his environment. Simple pleasures are fraught with challenges, and even minor outings require careful planning. "Freddie is confined to a pram and that alone limits us," Emily explained. "His lack of understanding means he becomes very unsettled in loud, busy settings. "Just getting my eldest to school can be challenging and wouldn't be possible without help. A typical day for us consists of pump feeds which can take up to two hours each feed. I have to do daily physio on Freddie to stop his muscles from stiffening. He needs fluid through his tube throughout the day as he is unable to swallow water now. "If we get out, which isn't too often, instead of soft play and parks we would head to a local café or coffee shop just to get some air and a change of environment. If I could sum it up, it's like waking up every day, and for a split second you think you've dreamt it all, then you realise you haven't, you realise you've got to face another day, watching your child deteriorate in front of you, grieve the child and life you had while trying to navigate the one you're currently living. It's a living nightmare." Yet there is a glimmer of hope: a gene therapy clinical trial is nearing completion and could potentially halt the progression of the condition. But due to INAD's rarity, the research is not commercially funded and requires public support. Emily is actively fundraising to aid the INADCURE Foundation's efforts to launch this trial and offer Freddie a chance at life. "Freddie's team has been extremely supportive," Emily said. "From his consultant and nurse at GOSH, to the local teams. "He has a physio, an occupational therapist, a dietician, a feeding and swallowing specialist and a team of community nurses. The gene therapy programme is a glimmer of hope, but without the funding it will be delayed and children like Freddie don't have years to wait. The research so far shows significant improvements in survival and motor function. "Freddie and others could be given a chance to fight back against this awful condition. To think that there is a potentially life-changing treatment almost ready to be trialled and that it is being delayed due to funding is a really hard reality to accept. "We also have to take into consideration that our only option for treatment for Freddie may be in America. Therefore funds may also help us pay for treatment and expenses to get us there if needed."
Wales Online
3 days ago
- Health
- Wales Online
Toddler diagnosed with one-in-a-million illness with no cure
Toddler diagnosed with one-in-a-million illness with no cure Freddie seemed perfectly normal for the first 18 months of his life Freddie's birthday with his mum, dad and brother A mum has made a desperate appeal for help after her little boy was diagnosed with a one in a million disease. Freddie Elwood was born in May 2021 and had appeared happy and healthy until around 18 months old when he began to lose balance, strength and speech. His mum Emily, 33, was beside with worry as she watched him regress, become less vocal and struggle with the skills he had only just acquired. 'Life before Freddie's diagnosis was like any typical family of four: school runs for my oldest son Harry, forever in soft plays and spending lots of time with family and friends,' Emily says. 'Freddie could communicate with the few words he had learned, like ball or mummy and daddy. You could say to him 'what does a lion do?' And he would roar! When he first showed signs like being off balance and being withdrawn, we didn't know what to think. We knew this was not normal but struggled to get anyone to listen.' By the time Emily and her husband Louis, from Upminster, Essex, saw a paediatric consultant, Freddie had lost more of his motor skills and was almost nonverbal. 'I remember vividly the consultant expressing huge concern and mentioning the word 'degenerative,'' his mum says. 'At the time I had not heard of that term. When looking it up, I kept saying 'that can't be, he was born ok and has been for 18 months'.' Freddie Elwood was born in May 2021 and had appeared happy and healthy Freddie was sent for blood tests, booked in for an urgent MRI and referred to Great Ormond Street Hospital (GSOH). But as each week passed, he was declining. 'We knew it was something serious. I kept saying 'something is wrong but hopefully they have a treatment that will help him',' Emily says. . Article continues below In November 2023, Freddie was finally diagnosed with Infantile Neuroaxonal Dystrophy (INAD) a one-in-a-million disorder with no cure and a life expectancy of just 5 to 10 years. The family was distraught. 'We left the hospital knowing we had to go home to break the news to our family and navigate our way through this with our older son,' Emily recalls. 'Freddie was ready for bed when we got home, I remember cradling him, looking down at his little innocent face sobbing. Our world fell apart.' Now aged four, Freddie can no longer sit, crawl, or swallow. He is non-verbal and has limited understanding. Even the simplest activities are challenging and the smallest outing needs careful planning. 'Freddie is confined to a pram and that alone limits us,' Emily says. 'His lack of understanding means he becomes very unsettled in loud busy settings. Just getting my eldest to school can be challenging and wouldn't be possible without help. A typical day for us consists of pump feeds which can take up to two hours each feed. I have to do daily physio on Freddie to stop his muscles from stiffening. He needs fluid through his tube throughout the day as he is unable to swallow water now. 'If we get out which isn't too often, instead of soft play and parks we would head to a local café or coffee shop just to get some air and a change of environment. If I could sum it up, it's like waking up every day, and for a split second you think you've dreamt it all, then you realise you haven't, you realise you've got to face another day, watching your child deteriorate in front of you, grieve the child and life you had while trying to navigate the one you're currently living. It's a living nightmare.' By the time Emily and her husband Louis saw a paediatric consultant, Freddie had lost more of his motor skills and was almost nonverbal There is hope: a gene therapy clinical trial is in the final stages of development and could potentially halt the condition's progression. However, because INAD is so rare, the research lacks commercial funding and needs public support. Emily is raising money to support the INADCURE Foundation's campaign to get this trial underway and give Freddie a fighting chance. 'Freddie's team has been extremely supportive,' Emily adds. 'From his consultant and nurse at GOSH, to the local teams. He has a physio, an occupational therapist, a dietician, a feeding and swallowing specialist and a team of community nurses. The gene therapy programme is a glimmer of hope, but without the funding it will be delayed and children like Freddie don't have years to wait. The research so far shows significant improvements in survival and motor function. Article continues below 'Freddie and others could be given a chance to fight back against this awful condition. To think that there is a potentially life changing treatment almost ready to be trialled and that it is being delayed due to funding is a really hard reality to accept. 'We also have to take into consideration that our only option for treatment for Freddie may be in America, therefore funds may also help us pay for treatment and expenses to get us there if needed.' Please donate to Emily's fundraiser at
Daily Mirror
25-05-2025
- Health
- Daily Mirror
Family 'shattered' after boy with incurable condition needs urgent treatment
Brave young boy Freddie Elwood is battling a rare disorder that affects just one in 1 million people - his parents are hoping to raise funds for gene therapy costing millions A brave young boy is battling an extremely rare and incurable condition, leaving his family 'shattered'. Little Freddie Elwood has Infantile Neuroaxonal Dystrophy (INAD), a rare disorder that affects just one in 1 million people. Freddie, from Upminster, needs treatment or he might not reach his 10th birthday as there is no cure for his condition. His parents, Emily, 33, and Louis, 40, are desperately trying to raise funds for a clinical trial with over £30,000 raised so far. The first sign Freddie's parents noticed something was wrong was when he was 16 months old. He had learned to crawl, pull himself up and had begun saying basic words such as "mumma" and "dadda" and he could imitate a lion's roar, but suddenly started to lose his balance. Freddie, born in May 2021, also started to scream and cry. "It was a little strange and was the first sign of something not being right,' mum Emily said to Essex Live. 'He went within himself a bit. We lost him a little bit.' INAD is a devastating disorder that heavily affects the brain and nervous system. Progressive symptoms can begin between six months and three years and leaves patients completely dependent on their families, carers and the healthcare system. Even more tragically, it has a life-expectancy of around ten years. Emily and Louis' glimmer of hope is advancements in medical research have suggested that a form of treatment could be available. The American charity INAD Cure says they are working on 'miracle-pioneering' gene therapy but $1.8 million (£1.3m) is needed for drug manufacturing and $3 million (£2.2m) is needed for clinical trial costs. 'Funding is a big part of it because Freddie's condition is so rare that for people to invest, these companies want a return and there's no profit in it because there's not enough children with the condition,' Emily said. 'It's baffling to us when there's something out there that could save children. We are running out of time. Time is of the essence, we've not got years to wait to come as Freddie does not have years to live.' She added: 'All the testing they have done so far is really hopeful and it's thought to be the closest the scientists have seen to a cure in all their research. We just want to really get the word out there, raise awareness and hopefully get it funded in time.' The pain Emily and Louis have felt has been difficult for the couple to bear. 'To not only be told he had a life-limiting condition but to back that with that there was nothing they could do for us or my son, it's just heart-breaking and wrenching,' Emily said. 'It shattered our world. We have an older son, Henry, and I kept thinking I would have to go home and somehow get up every day and face the world knowing that if nothing changes we will lose Freddie before he turns 10. I've got to tell my other child that he's going to lose his brother.' 'If you have a baby and are told at the beginning that something is wrong then that's your life and you're thrown into it. But to have him perfectly fine for months and then be told that, it's like you're grieving the life that you have had and it's being taken away from you day by day and there's nothing you can do about it. 'If you lose someone you spend time moving on. Although you never get over it, you move on as time is a healer. But we are sat in this desperate place every single day trying to put one foot in front of the other knowing that if nothing changes he will die and there's nothing we can do.' Emily set up a fundraising page hoping to receive a few thousand pounds to go towards the campaign, but after a matter of days almost £35,000 has been collected. It has come from hundreds of donors, including many anonymous who have found out about Freddie and wanted to support financially. She said: 'The love, support and sharing means everything. I know anyone with children would read our story and it's touching as they would hate to be in our position but to donate and spend their money the way the world is [at the moment] is great. It's beyond anything we could ever imagine and it's only been a few days. We hope that if we keep pushing it could really reach far.' 'We felt so helpless the last 18 months and that's the worst part of things,' she added. 'The only thing we can do is keep going for them, putting one foot in front of the other. This has given us a reason and something to cling onto and fight with all our energy to see until the end.'
