Braver for Riley

BRAVER exists to serve a larger cause that goes beyond personal interests. Our campaigns are designed to gather funds for individuals who require help from their fellow human beings. All profits from the Braver for Riley Patches will go directly towards Riley to aid in the financial challenges her family face as she lives with Metachromatic Leukodystrophy (or MLD). 

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Written by Alix du toit, riley's Mum

More about Riley

About Riley

Riley’s medical journey started in May 2021 and has been a rollercoaster since. Although being 2 and a half years old, she is no longer able to sit unassisted, eat, or speak. She was a thriving little girl - chatting up a storm, with the most incredible sense of humour, but then a disease that she was born with, started to destroy all of that.

After a vast number of tests from June 2021 to February 2022, including 5 MRIs, 3 surgeries, an LP, an ECG, EEG, multiple xrays, countless blood tests, and a number of genetic tests, she has been diagnosed with metachromatic leukodystrophy (or MLD). 

MLD is a rare, terminal, neurodegenerative disease. She will continue to decline over the next few months or years.

She has intense muscle spasms, nerve pain and nausea. She is on a variety of medication to help reduce this pain, and to try to keep her food down. She struggles to sleep. She still, however is able to smile, and sometimes even laugh. She is aware of her surroundings, and still recognises family and friends, and is able to see and hear. 

We are heartbroken that our joyous little girl is having to endure this disease, and that there is nothing that we can do. The focus every day is keeping her as comfortable, relaxed and happy as we can. She continues to smile through it all, and occasionally we are lucky enough to get a giggle.

We hate asking for money, but between the home carer, vast number of medicines, specialized food, physio, doc appointments, etc, it becomes quite a mountain of bills every month.

We cannot explain how incredible grateful and overwhelmed we have been at the love, support, and generosity of everyone. We have been blown away. Thank you all so so much.

A quick explanation of metachromatic leukodystrophy

MLD impairs the growth or development of the myelin sheath - the fatty covering that acts as an insulator around nerve fibers. Think of it as stripping all the plastic covering of all the wires in your house. These wires, or the nerves, are then exposed and become continuously damaged over time.

A brief explanation of the genetic aspect:

We all have 20 000+ genes. Our genes are made up of two parts (one from each of our parents). Each of us is a carrier for normally about 5 genetic mutations/diseases (which means one half is faulty and the other if fine). Riley's dad and I happen to both have the same gene affected (the ARSA gene) - we did not know this before. Even then, Riley only had a 1 in 4 chance of being affected (she needs both faulty copies from us). 

As a side note - if any of you are nervous about having children after reading this - I wish we had known about the technology available and access to genetic testing beforehand. Although they may not have picked up on this very unusual affected gene, genetic screening really should be a lot more common practice than it currently is, to help limit the occurrence of rare diseases. Rare Diseases SA explain that although each disease is very rare on its own, if you consider that there are more than 7000 rare diseases, South African children have a 1 in 15 chance of being affected by one! 

Some medical history on Riley

Riley’s left eye suddenly turned inwards. She had an MRI to investigate and that afternoon we were called to urgently go to hospital. She had bilateral mastoiditis (infection in the middle ear), with immense fluid build up in the mastoids and cranium. She had grommets put in the next day to assist with draining the fluid, and was put on IV antibiotics for the next few days.

We were sent home with a 3 week course of oral antibiotics. After two weeks, she woke up one morning incredibly lethargic with a swollen eye. We were rushed in, admitted and had another MRI the next day. This revealed a new lesion (abscess) in the mid-brain/pons area with inflammation in the brain. She began a long IV course of two antibiotics, including vancomycin.

The meds began to eat at her veins, and she needed a new drip put in daily, as well as bloods taken daily. She was running out of available veins, and so had a central line fitted (an IV line directly into her heart) to avoid the non-stop pokes and the screaming every few hours when a new bag went up. 

We were discharged two and a half weeks later (after another MRI), with a month of oral antibiotics to follow. She went for a fourth MRI after this round of meds to confirm the swelling, fluid and lesion had resolved.

She had repeat throat infections every few weeks after that, but has mostly infection free since then. After that, she had numerous therapies, with minimal change and continued to lose weight and muscle mass. We were hospitalized again in November, for a short stay to run a number of tests and observations.

She became irritable and lethargic again in December, with no obvious explanation. She had another MRI and LP a few days after Christmas. This MRI revealed a tigroid pattern (like tiger stripes) on her brain, which led the radiologist to suggest MLD as a diagnosis. Soon after that, she was admitted again, had more tests (blood, urine, more genetic panels added etc) to try to confirm this suspicion. During this time, she had a number of nasogastric tubes to help with feeding and limit the weightloss. A more permanent solution - a feeding peg (like a port) put into her stomach. This surgery forced a further decline in her function. She lost the 3 or 4 words she was able to still say, lost the ability to put her dummy in her mouth, and had extreme spasticity (muscle spasms) in her arms and legs, with her neck arching far back.

We remained in hospital for many weeks, trying to get her feeding, hydration and pain under control. We were discharged mid-Feb and have been home since. We manage all of her feeding and medications at home. 

Everyone has been phenomenal throughout this process and we are so so grateful. All of the doctors have been incredible, too, guiding us through this very unknown journey. Most notably, we have recently become patients of Paedspal - a pediatric palliative care group in Cape Town. They are the reason that Riley has found some relief from her pain and discomfort.

She has been the most resilient superstar we could have imagined - much stronger than us most of the time. And we cannot thank everyone enough for the intense generosity, care, and love you have all shown. We are so grateful that Riley has so many people around her that care about her, and us, so deeply.

Riley's Back a Buddy

For those who want to donate a monetary gift to Riley you can go to her Back a Buddy page here