Josh's MLD Journey

We have created this page to tell Josh's story, following his diagnosis of Juvenile Metachromatic Leukodystrophy (MLD) in 2021.

Journey and diagnosis:

Due to concerns over Josh’s mobility, his parents sought medical reviews on several occasions, prior to his diagnosis. Josh was eventually referred for an MRI and this showed changes to the white matter of his brain, which was consistent with a leukodystrophy. This was a worrying finding and further testing was arranged to identify the cause and type of Josh’s leukodystrophy, with a focus on identifying any potential treatment as soon as possible.

Josh underwent genetic testing, blood screening, nerve testing, neuro investigations and neuropsychology assessments and an outcome meeting was then scheduled with the specialist research team to discuss his diagnosis, treatment options and next steps.

While waiting for this meeting and knowing about Josh’s worrying presentation and MRI findings, we as a family wanted to prepare ourselves and spoke with a Leukodystrophy charity, who put us in touch with families of children with other leukodystrophies and helped us to build up our knowledge about this condition. We therefore had some understanding of what to expect next.

Following many tests, in December 2022 we learned that Josh’s genetic tests showed he was lacking the enzyme Arylsulfatase-A. This enzyme maintains the myelin sheath in the nervous system, which is the covering that protects the nerves throughout the brain and body. Without this enzyme, sulfatides build up, eventually destroying the myelin sheath and the nerves in the brain cease to function properly

This condition is called Metachromatic Leukodystrophy, also known as MLD, and due to the age of disease onset in Josh, his specific type is Juvenile MLD. Juvenile MLD is a rare, life-limiting disease which typically affects 1 in 140,000 children.

At present, there sadly is no cure.

Outlook and treatment:

While we were already aware that there was no cure, we learned that there were some treatments which can slow the symptoms and progression of the disease. These treatments however are only available for children where there has not been a significant loss of cognition or movement at the time of treatment. Sadly, for Josh, his cognitive difficulties meant that he was not eligible for the current treatments available for MLD and we were also told that no trial treatments are upcoming. Josh will now be on the national register for people with MLD and if anything changes with respect to treatments, including upcoming clinical trials, we will be informed.

Life now (2025):

Often the first symptoms of MLD are difficulties with walking, due to problems with signalling in both the brain and the nerves that supply the legs. This was the case for Josh, who had both increased stiffness and worsening weakness especially around his feet/ankles from the age of 4 and this progressed to his leg stiffness worsening, his feet contracting and Josh is now fully dependant on his wheelchair and unable to walk.

As Josh's disease has progressed, he is unable to move independently and requires 24-hour care. He requires lifting and hoisting to move and cannot support his own head independently anymore. His strength will sadly continue to decline. Josh's seizures have now developed and we are on high alert for these, as well as monitoring the absent seizures he experiences throughout the day. Josh has high dystonia in all limbs and gut dystonia which causes his stomach to spasm and makes him very unwell and sick. Josh has limited vision now and his hearing has deteriorated. He is unable to take any food by mouth and is GJ-tube fed for 20 hours of the day, as he has dysphasia, losing his ability to swallow food or liquid independently. Josh now requires oxygen frequently and Cpap to aid his sleep, as he obstructs during sleep multiple times a night, due to low oxygen saturations. He is on a high level of different medications, to keep him comfortable.

Eventually, a person with MLD will lose awareness of their surroundings and become unresponsive, and while we are lucky Josh is able to still smile and laugh, his deterioration is happening quicker than we ever imagined and the last year especially, things have changed drastically. The expected rate of progression of MLD varies from person to person and sometimes people with MLD also experience periods of faster disease progression or periods of relative stability and these are difficult to predict.

Ongoing support:

Josh has the support of a multidisciplinary healthcare team for his evolving needs and to ease any distressing symptoms. He is supported by his local Paediatric services, who support and coordinate his holistic care, alongside ongoing specialist input from Paediatric Neurology. Josh will continue to be well supported by all his local teams.

We have had amazing support so far from the various medical professionals about how to manage as a family going forwards. We have talked about the importance of taking the time to enjoy the small everyday activities as a family and of making time for one another. We have talked about how to prepare the other children in the family as they start to notice the differences in Josh. We are prepared for the waves of emotion that will ebb and flow in the coming months and years, but we know that the specialist teams around us, as well as our family and friends, will be the greatest sources of support for us.

Our Goals:

We have several goals we want to achieve from sharing Josh’s story and creating this page.

• First and foremost, we would like to continue to raise funds to enable us as a family to fulfil any wishes for Josh and to continue making memories with him. We want to do as much as we can while he is still able to participate in activities and before further deterioration in his cognition and mobility means he would be unable to do so. We do not know how much time we have before the symptoms of his condition render him unable to do the things he loves and for that reason, it is important we are able to make plans for Josh while he is still physically and mentally able.

• We continue to donate from any funds raised to the main charity who support Josh, enabling him to receive all different therapies, including weekly hydrotherapy; Shooting Star Children’s Hospice. We want to be able to give something back to them for their care and help them to continue supporting other children with life-limiting conditions and their families.

• Lastly, we want to raise awareness of this awful disease and for parents to be aware of the early disease indicators, which could save their child’s life. The MLD community are also advocating for the government to approve testing for MLD and other rare diseases, on the newborn screening heel prick test, which has not yet been approved. This was not an option when Josh was born but if it is mandated, it would allow the disease to be caught and diagnosed in its earliest stages, where treatment could then be planned for, and other children and families would not have to suffer. Josh was on BBC and ITV news recently with his Mum, Lucy, to raise awareness of what can happen if the test is accepted and applied globally and it is currently being trialled in hospitals around the world. We hope it gets accepted to help other families not to be in our position and we will advocate in any way we can to support this process.

Please support us in raising vital funds by either donating, sharing or holding fundraising events and spreading awareness of this disease. We will keep you posted on any fundraising events we, as a family, will be involved in.

We appreciate everyone’s support and are eternally grateful for the ongoing support of the many teams who are helping Josh on his journey.

For Josh, his journey is made easier by having the love and support of everyone around him…….

Thank you for reading x