About five months ago, Lexi Robins was born in the United Kingdom. She didn’t show any signs of abnormal development at first, besides the fact that her thumb didn’t move and her toes were a little large. It wasn’t until her parents took her to the doctor that she was diagnosed with fibrodysplasia ossificans progressive (FOP), an extremely rare disorder that causes bones to form outside of the skeletal structure.
Lexi’s Journey to Treatment
Lexi’s mother Alexandra recently posted a heartfelt video to her Instagram in an effort to call her followers to action. In it, she briefly summarizes Lexi’s journey to an FOP diagnosis and explains what the rare disease is.
She goes on to explain that FOP is not incurable, as it has been previously labeled. In fact, there are 16 trials currently being conducted for this disease state, two of which appear very promising. The issue arises with funding. While the organization running one of the successful trials has given Alexandra a timeline that states their therapy could be available in five years, this is all dependent on available funds, and the NHS will not provide any money due to the rarity of FOP.
Because of this, Lexi’s mother is asking her followers and anyone concerned with the cause to donate money to her CrowdFunder. There are 34 days left for the family to reach their £100,000 target. At the time of this article, they are £19,752 away.
Beyond donating, Alexandra is pleading for people to raise awareness for this rare condition. Early diagnosis and intervention are crucial, as FOP is a progressive disease. If doctors, nurses, and others are more aware of FOP, they will be able to diagnose it and provide the necessary care. For example, muscle trauma leads to ossification, so impacted individuals should be careful to avoid injuries.
Working with patient and advocacy organizations is a good way to learn more and raise awareness for FOP. The International Fibrodysplasia Ossificans Progressiva Association acts as a good example.
In the end, raising money and awareness is absolutely essential to save Lexi’s life. You can read more about her journey here.
FOP is an extremely rare disorder, impacting one of every 735,000 to 1 of every 2 million births. It causes the muscles, tendons, and ligaments to turn to bone (ossify) over time, restricting movement. At birth, the only signs of the disease are enlarged thumbs or toes, but as time passes, the tissues outside of the skeleton will ossify. Typically the tissue around the neck is impacted first, followed by the arms and legs. Muscle trauma will worsen the condition as well.
The ACVR1 gene plays a role in promoting and controlling bone growth, and it is the gene that is mutated in those with FOP. While most cases are sporadic, meaning the mutation is new, it can be inherited in an autosomal dominant pattern.
There is currently no cure for FOP, but there are multiple clinical trials in progress that aim to change this. Corticosteroids and other medications may be used to manage the symptoms.