Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p, a genetic arrangement that affects just 80 people worldwide. She recounts the struggle to secure a diagnosis, and how the experience shaped her attitude on how we confront rare disease.
Can you shed some light on the nature of Inv Dup Del 8p?
Inv Dup Del 8p stands for ‘inverted duplication and deletion on the short arm of chromosome 8’. It doesn’t have an eponymous name. My daughter is literally missing some genetic material, and also has some other genetic material doubled up, on her eighth chromosome. There are only 80 people in the world that have this condition, most of whom are children.
Up until the beginning of February there were only 65, and then the UNIQUE database was updated so now we now know of 80 people with the condition. Most families know each other quite well – we’re all in contact with each other and there’s a huge [sense of] community because it’s so rare that, 90% of the time, [the doctors you come across have] never heard about and don’t know anything about it. We have had to become expert patients.