Leukodystrophy: What is it?

What is it?

Leukodystrophy is the primary name for a rare disease. A disease in which there are 50 + variants, some of which are so rare that they are unnamed. The disease itself is a neurological disorder that is both progressive and incurable. In most cases the gene mutation is passed down from parent(s) to child. An incomprehensible, helpless guilt that no parent should have to try and come to terms with!

The simple science!

This merciless disorder affects myelin which is better known as white matter. This white matter is found within the brain and spine and acts as a protective encasement for nerve cells and without said protection there is exposure to suffer damage to the nerves. A gene mutation such as this will eventually cause a progressive loss of neurological function in infants, children and occasionally adults.

What can be done to solve it?

Unfortunately, as you will have read, this disease is incurable. The only way to know is through symptomatic functionality. For us as a family we noticed delayed walking, limited postural control and lack of strength as our daughter approached the age of 2.

Some will read that the disease is treatable but this is only available of the patient is non-symptomatic. For those that are symptomatic there is medication, physical, occupational and speech therapy which are typically the first port of call. Postural supports feeding tubes come later so whilst helpful, it's a long way from 'treatment', arguably more management..

Advancements:

The definition of ‘leukodystrophy’ has changed over time, as a result of improved understanding of the disorders. The word “leukodystrophy” is an old word that was coined to describe a genetic disease of the white matter of the brain. The term comes from the Greek language – leuko “white”, dys “abnormal”, and trophy “thrive or grow”. Put together, this describes a process of deterioration of the white matter in the brain.

Before the gene abnormalities that cause leukodystrophies were identified, the term “leukodystrophy” referred to a genetic disease of the white matter of the brain usually following a degenerative course. For many years it was thought that leukodystrophies were primarily diseases of myelin or myelination.

In the past two decades there has been a revolution in the understanding of the causes of white matter diseases with the identification of the gene abnormalities that cause the diseases to develop. This has led to increased understanding of the many different ways in which the white matter of the brain may be affected and a recognition that these were not exclusively diseases of myelin. It was also recognised that not all leukodystrophies followed a degenerative course.

Premier League Walk

Sean Stock
Mar 1
2 min read

This is a post of appreciation directed to a very close, long standing friend, David, aka Kiddie. From the entire Stock Family, thank you David for everything you've said, done and plan to do. With that said, what do you plan to do? Please read on to see what David is willing to do to support us.

As many will know our very good friend, David Kiddie, will be embarking on a mighty feat as he walks from the Vitality Stadium in Bournemouth to the Tottenham Hotspur Stadium but that's not all. To test those legs just that little bit more he will be weaving his way to every Premier League Stadium between the two. This journey will see him cover around 300km, likely 10-12 hours walking per day, 10 Premier League Stadiums plus Wembley all of which will be completed within 7.5 days.

In planning all of this the best comment came from my Mumma, Emily, stating to David "it's just walking though". Which led to one final suggestion from Daddy "what about the skywalk?" a suggestion that was met with a smirk from Dad and an expletive from David. As many of us know David has always had a fear of heights so whilst 7.5 days walking will be incredibly challenging - despite it being "just walking" - conquering a life long fear is a different kind of benchmark. Surely he can't say no to my parents? He didn't! The final stage of this challenge will be scaling the Tottenham Hotspur Stadium. Standing tall and triumphant, next to the Cockeral, Chirpy, overlooking the pitch of a club that many of us have come to love. Whilst David likely shakes with terror on tired legs many more will stand 46.8 meters applauding a man that we've come to support.

The Premier League Walk will commence 4 weeks from today on the 29th March.

Please show your support by visiting and importantly sharing the below link in order that we can raise awareness far and wide. Thank you.

https://www.justgiving.com/crowdfunding/lilys-light?utm_term=49Np25XWM&fbclid=PAZXh0bgNhZW0CMTEAAaZQnmBK6SVMrHzYBRiFk5xscOQQjm-HPBF1AOxT99qgaecHKITqNs1s-ZI_aem_sPvmC9U4Kxd2eCVIm5LqHw

A Princess Meets A Princess: When Disney Met Lily

Sean Stock
Jan 30
4 min read

Before starting this chapter a huge thank you has to be said to those that have shown their support. Particular thanks to a close friend, Janine Leal, who stands beside us without hesitation. We have many things to thank her for but for this next tale we thank you for setting up the GoFundMe that allowed this trip to happen - "Magical Memories":

https://www.gofundme.com/f/magical-memories-for-lily - Thank You x

At the time of this trip Lily had sadly lost the ability to eat anything solid, coordination all but gone, vocabulary and speech diminishing yet a smile could be drawn if you put the effort in. As we edge(d) ever closer to the Feeding Tube something special was needed. With the GoFundMe target having been reached it was time to make a memory and where better to go with the kids? Our first Magical Memory funded trip would be Disneyland!

Whilst these posts predominantly surround Lily we must remember our little but fast growing son, Arthur. This trip was arguably as much for him, if not more, than it was for Lily. Arthur found himself having sleepovers at Auntie Tiggers, days out with friends, school pick-ups from multiple people and an excessive number of visits to Grandma and Grandads. I am sure he was loving the variety but Em and I obviously want to keep him close and be sure that he wasn’t feeling like the outcast. Once he knew Disneyland was on the horizon not a day went by without him asking "is Disneyland today?" despite having never watched a single Disney movie or even an episode. On the 4th January the time came for Myself, Emily, Arthur, Lilian, Auntie Tigger, Uncle Cal, Grandma and Grandad to step onto French soil with roughly 48 hours to explore this mesmeric wonderland. None of us need the history of Disney or a ride by ride guide so instead here are a couple of our favourites.

We have asked Arthur what his favourite part of the trip was but there was clearly too much to remember or maybe a blur in the excitement so we received the generic “Ummmmm, I loved everything”. Me on the other hand, I can choose a best bit based on comedy value. On the morning of our final day we had a table booked at the Character Breakfast. Anybody that knows Arthur will agree that he is outgoing, caring, loving, intelligent and incredibly confident. You will also know that he will not keep quiet regardless of the situation he finds himself in; but the day finally came. As a number of characters waltzed their way through the dining area Arthur stood in amazement, silent on the spot making us question if he was okay. He appeared starstruck! As we settled into our seats ready to delve into our under-cooked bacon and liquid textured scrambled egg we thought it best to fill our pockets with pastries for the day ahead - Cheapskates. With his Disney Signature Book signed and a parting kiss from Daisy Duck his silence was opportunistically broken. The characters scurried out of sight and he addresses the table with “Hey, do you know what?”. All eyes turn to Arthur to see what gem of a comment he was about to make. “I think they're just dressed up people". All those aged between 30 to 65 leapt to convince him that they were real, nothing staged, and this could be proved by something special; by meeting a real life princess. “But I don’t want to meet a princess, I will go on Dumbo with Grandad”. Cool, see you later and away they flew.

Once the chaos of the characters came to a close we headed for the door. Emily and Uncle Cal took this window of opportunity to divert to Space Mountain whilst the clueless among us tried to figure out where this secret princess hideout was. After what had been our longest queue so far we were allocated a line. Who will we meet? Will it be worth it? Herded to one side as others left their wonderland we cautiously approached our entrance. We peak around the corner to find Cinderella. Dressed to the nines she finally got to meet a real Princess, Cinderella got to meet Princess Lily. As the photographer stood there capturing the moment Em burst into tears. Now as I am sure you will agree, Em and I have a wholly justified reasons to cry yet we couldn’t help but wonder what Cinderella was thinking. “Is this 30 year old woman really crying over meeting me?”, we will never know.

It is very difficult to say whether Lilian enjoyed her trip to Disney as the disease has caused more than just physical regression. Em and I are learning each day that something may need to change, that there could be another way or there will be unexpected issues still to come. Days before the trip Lily had started refusing liquidised food and juice so her energy levels were drained. Smiles were few and far between and a single yogurt could take an hour to feed her. Finding reality in a fairytale land that things are unlikely to ever improve but there are steps to take. On our return to England her feeding tube was due to be fitted in the hopes that this would be uplifting. With a now diagnosed condition of leukodystrophy we have accepted that we have become a part of a minuet community in the country, arguably the world. As a family we are facing challenges of a Cruel World; finding joy in a Small World, after all.

Never question a Mother's instinct

Sean Stock
Jan 16
3 min read

Updated: Jan 21

Many of you will have heard of the phrase “mothers instinct”; something that others may believe to be a rouse but for me - for us - it is something we believe in. I would even go as far as to say this intuition surpasses a maternal intuition and relates to those they love as well. What leads me to suggest this? Well, in 2018 my now wife, Emily, believed something to be unstable with my health. Time and time again telling me “we need to see a doctor” only to be ignorantly dismissed. As time passed, Emily tenaciously battled my dismissals and resorted to modern technology. She managed to capture me having what we now know to have been a complex partial seizure. Three months later whilst waiting for NHS availability I collapsed on the London Underground. I was later diagnosed with a non-operable Grade 2 Oligodendroglioma Brain Tumour. Emily was right and I have no reservation in admitting it.

So where am I going with this? Why am I talking about myself and not our precious Lily?

Well, Em had a familiar feeling; an unsettling awareness that we needed to see someone. On the 12th March 2024, Lily just 17 months old, Lilian was showing limited signs of being able to walk so we visited our local surgery. A short wait and a brief discussion saw us directed home having been told that we shouldn’t be concerned as “some children don’t walk until they are 2”. Hit that fast forward button again and press play 6 months later - 6th September, Lily now approaching 2 years old of age.

Once again we were off to see the professionals at a local hospital. They very kindly undertook an assessment but, as before, we were once again told that we could go home. No, No, No! We had no intention of leaving and the Doctor's cottoned on to that fairly quickly. One doctor finally conceded that Lilian should be subjected to a CT scan. Having been at the hospital since c. 8:30, numbing cream was finally applied and Lily would be seen… after fasting for another 4 hours. She fasted, she slept, she played, she slept and finally she was scanned. Come 23:00 we were free to leave, discharged with nothing more than what we arrived with. Results were soon returned which confirmed there were no masses (tumour). The next step would be to have an MRI, the same scan that (the royal) we had asked for in the first place - there’s that instinct again!

“What’s the timeline?”

“Anything from 6-8 week.”

We had seen waiting room walls, pediatricians, physio and occupational therapist, opticians, podiatrists, radiologists and of course, neurologists. Despite what sounds like positive progress with professionals the majority of this was due to paying privately.. The remaining days of September, the entirety of October and 3 weeks into November, the wait was over. Lily undertook her MRI on the 21st November 2024, the scan that would give us conclusive results, the scan that came to change our lives forever.

The MRI reported that Lilian had a rare genetic disorder known as Leukodystrophy. A disorder that damages the white matter of the brain and spinal cord. A progressive, degenerative disorder that will impact far more than a localised area or characteristic. This disorder would take away her ability to move, to speak, to see, to eat, to swallow. Worse yet, this disorder would slowly take our Lily. To add to that, we were told that we had to get Arthur checked to make sure he hasn’t got the same gene mutation that could affect him later in life. So now we know. Now we move forward as best we can. Now we make sure Lilian is as comfortable and safe as she possibly can be. Now we step up to be even better, stronger parents. To face the fate in fear.