SPG50 has less than 100 cases worldwide and only 2 cases in the UK. Funding is needed to for the final stages of finding a cure.
“Meet Dua aged 3. She has been diagnosed with an ultra rare condition called SPG50. There are less than 100 cases worldwide and only 2 in the UK including Dua.
SPG50 is a neuro degenerative and progressive condition which means Dua’s body will go into paralysis, starting from the toes, eventually leading to the brain. It is life-limiting if not treated. Trials are ongoing in the USA for a gene therapy which has shown positive results in the 5 children treated so far, but the final stage cannot go ahead because of funding”
This is the instagram post by Unique Charity which is making a push to try and help Dua’s family raise £250,000 towards efforts at curing this disease. For more information on this story you can read the article posted by itv.com here.
What is SPG50?
SPG50 is a rare condition that affects how the brain tells the body what to do. It’s like having a broken signal between your brain and your muscles. People with SPG50 may have trouble moving their arms, legs, or even talking clearly.
Imagine your body is like a big, busy city. Roads help cars move from one place to another, making sure everything runs smoothly. Now, imagine one of those roads has a big pothole — cars can’t move properly, and the city starts to get stuck. That’s a little like what happens to people with SPG50.
Our brains send messages all the time — like telling your legs to run, your hands to wave, or your mouth to say, “Hello!” But with SPG50, these messages can get stuck or take longer to get through.
Why Does This Happen?
SPG50 is caused by a change in something called a gene. Genes are like instruction books inside your body that tell it how to grow, move, and stay healthy. If one of those instructions gets mixed up, it can cause problems — like the “pothole” in our city example.
The gene that causes SPG50 is called the AP4M1 gene. When this gene isn’t working properly, it’s harder for the brain to send the right signals to the muscles. That’s why moving, walking, or balancing can become tricky for people with SPG50.
What Happens to People with SPG50?
Everyone with SPG50 is different, but here are some common challenges they may face:
Walking: They might need special shoes, braces, or wheelchairs to help them move safely.
Talking: Their words may come out slowly, or they may need special tools to help communicate.
Learning: Some people may need extra support in school or specialized teachers to guide them.
However, it’s important to know that people with SPG50 are just like everyone else. They have their own interests, talents, and enjoy spending time with family and friends.
Can SPG50 Be Treated?
Doctors are working hard to find ways to help people with SPG50. One treatment scientists are exploring is called gene therapy. Gene therapy is like fixing that “pothole” in the road — it helps messages from the brain travel smoothly again. While this treatment is still being researched, experts are hopeful it could help people with SPG50 feel stronger and more active.
All for one and one for all
Welcare finds the cause a worthy cause and has donated £10,000 towards this goal. Welcare believes in a brighter future for children in the UK and Dua is no exception. It is just her circumstances that are exceptional and that’s why Welcare is taking the exceptional responsibility to champion this cause and help out.
Someone has to act and Welcare has the means and the heart to do so.
If you would like to donate to this cause you can follow this link and contribute towards saving Dua’s life and the lives of others afflicted by this horrific disease. Click here to donate.