Josh's MLD Journey

Hi everyone. I am creating this page on behalf of my sister and her partner, to tell the story of my 6 year old nephew Josh's recent diagnosis of Juvenile Metachromatic Leukodystrophy (MLD).

 

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 the UK Leukodystrophy charity, Alex TLC. They 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 his many tests, we learned at the outcome meeting 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, he has a diagnosis of 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, while his movement is currently good, his cognitive difficulties mean that he is not eligible for any current treatments for MLD. We have also been 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.

 

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 is the case for Josh, who has both increased stiffness and worsening weakness especially around his feet/ankles. Josh’s leg stiffness has become more apparent recently, with his feet pulling inwards. His movement difficulties will be ongoing, as well as the difficulties with his motor control; but Josh has regular physiotherapy that is helping to maintain his strength, he is waiting for splints to be fitted on his legs and he uses a wheelchair for long distances. Josh has difficulties with learning as per his cognitive results and other problems noticed early on can include speech difficulties and incontinence issues.

 

As the disease progresses, seizures usually develop and we expect Josh to have increasing difficulties with movement; including worsening limb stiffness, inability to walk, difficulty with day-to-day movements and deterioration in speech, vision and hearing. The ability to take food by mouth will be lost, due to loss of control of swallowing and a feeding tube into the stomach will be needed at that time. Eventually, a person with MLD will lose awareness of their surroundings and become unresponsive. 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:

In the long term, Josh will need the support of a multidisciplinary healthcare team for his evolving needs and to ease any distressing symptoms.

 

Josh will have support from his local Paediatric services, who will be key in helping to support and coordinate his holistic care, alongside ongoing specialist input from Paediatric Neurology. Josh will continue to be well supported by his local Physiotherapy and Occupational Therapy teams, as well as Speech and Language Therapy, to support with both communication and feeding.

 

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 raise funds to enable us as a family to fulfil any wishes for Josh and to make memories with him. We want to do as much as we can while he is still able to participate in activities/travel and before any deterioration in his cognition and mobility means he would be unable to do so. While we are also speaking with the charities Josh has been referred to, we do not know how much time we have before the symptoms of his condition will progress and for that reason, it is important we are able to make plans for Josh while he is physically able.

 

• We will also donate from any funds raised to the charities who will be supporting Josh, such as Make a Wish and Shooting Star Children’s Hospice and any further charities who become involved following referrals from his medical team. We want to be able to give something back to them for their care and help them in some way to continue supporting other children with life-limiting conditions and their families.

 

• Lastly and most importantly, we want to raise awareness of this awful disease and the need for new-born screening, which 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.

 

Please support us in raising vital funds by either donating, sharing or holding fundraising events and spread 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 involvement and are eternally grateful for the ongoing support of the many teams who will be helping Josh on his journey.

 

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

 

Thank you for reading x