Nala Koala and Teddi Bear

Hello, I'm here to tell the story of my girls recent diagnosis.

For a long time I was concerned regarding my eldest daughters foot position and walking difficulties (Nala is now 2 years, 8 month old). I first took her to the doctors at 6 month old but just kept getting told to keep and eye on things and wait until she was walking properly. Nala then went on to see physiotherapists but unbelievably got discharged from two seperate ones, in two different areas, even though her mobility was getting worse and not better. In October last year we again got referred for physio, x-rays and to an orthopaedic. This resulted in a concern regarding a neuromuscular disorder and placed on a waiting list to see a paediatrician. I had to call daily for weeks to push this appointment along and we were then referred for an MRI, again being placed on a waiting list.

After more weeks passed Nala continued to get worse and an ambulance ended up being called as friends and family were fed up of waiting and knew she would be seen quicker in this case. It was there at the Royal Victoria Infirmary that she was sent for an emergency MRI due to concerns regarding a brain tumour.

 

A few hours later we were given the heartbreaking news that although there was no tumour, an extremely rare brain disorder had been found called Metachromatic Leukodystrophy or MLD. This is a genetic disease so our younger daughter Teddi (11 months) was then brought in for tests and it was found she also has the disease.

 

Heartbreakingly Nala cannot be helped, her brain has deteriorated too far already so no treatment can be offered, she will continue to lose all her functions and children with this disease have a short life expectancy.

Teddi has been caught quick enough and can receive gene therapy treatment, but will also need chemotherapy. It will mean long stays at Manchester children's hospital and it will be such gruelling treatment for such a young baby.

Being told one of your children can be saved and one can't is quite possibly the hardest news to hear.

 

We want to raise money for a number of reasons. Mainly to help Nala enjoy the rest of her life, whether that be holidays, days out or medical equipment to make her more comfortable. But also in case any trials become available that Nala may be eligible for that we'd need to pay for or get her to another country.

The money is also for Teddi, she is beyond lucky to be getting life saving treatment but it's going to be a long and hard road for such a little person.

Teddi will be the first child to receive this treatment in the UK on the NHS. This treatment was only passed in February this year. We just wish both our children had been caught quick enough.

 

We want to thank every single person for their love, support and kindness so far. We've been truly overwhelmed with everyone's messages, thoughts and gestures.

 

Please help get the word out there about this horrific disease so more children can be saved. No family should have to go through this.

If anyone would like to read up on this awful disease I will share the link.

https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/metachromatic-leukodystrophy-late-infantile-form/

 

Thank you for your time, much love,

Ally, Jake and our families. ♥️