One of the great things about the LilBUBome is that it’s an open science project, so we get to interact a lot with people who are interested in our science. One of these people is Ann, whom we got to know through Mike (BUB’s dude). Ann had contacted Mike a few months ago, because she also has a cat, Rosie, who was recently diagnosed with osteopetrosis, and Ann wanted to know more about the disease.
Of course, we were really fascinated by Ann & Rosie’s story: osteopetrosis is a rare disease, and even more rare in cats. BUB seems unique, because she’s the only cat with a juvenile (early-onset) form of the disease. Rosie’s case seems different.
For example, she only developed osteopetrosis when she was older, so – unlike BUB – she’s actually quite long and lean (BUB is probably so small because her osteopetrosis forced her bones to calcify and stop growing too quickly).
Also, Rosie has different symptoms than BUB, and also received a different treatment. However, similarly to BUB she seems to be doing fine, despite living with osteopetrosis.
So, similarly to human patients with osteopetrosis, the disease seems to be rather diverse in cats, too. To get a better picture, we asked Anne to tell us Rosie’s story.
Q: Tell us more about Rosie. Where does she come from?
Ann: We adopted Rosie from a wonderful cat rescue group in Western Washington in 2011. They were having their annual “Average Joe Cat Show” and we attended with the intention of adopting a kitten. When we arrived, little Rosie was the last one from her litter left. One look at her and we knew she was meant for us. Who could resist those green eyes and big ears!
Q: Rosie was more than 3 years old when she was diagnosed with osteopetrosis. What were the events that lead to her diagnosis?
A: Rosie seemed quite healthy until early 2014 at which time we noticed her limping. She is a very rambunctious cat, always running up and down the stairs and jumping from the top of the cat tree so we thought perhaps she had hurt herself while playing. However, she continued to have a significant limp, which did not seem to improve, and so we asked our vet to further investigate. Ultimately, her x-rays confirmed that she has osteopetrosis.
Q: Can you tell us more about Rosie’s symptoms and the treatment she’s been getting?
A: Sometime after Rosie developed her limp, she developed non-healing wounds/sores on her rear ankles/hocks. This is because her bone fractures* don’t allow her Achilles tendons to work properly and as a result, she bears her weight on her hocks. The bony overgrowth from the osteopetrosis may also be impairing outward healing in some way. We have tried various ways to heal and protect her hocks, but she hates the bandages and splints we have used, and they had no apparent benefit. Instead, we regularly examine her wounds to make sure that they are not infected. Her vet believes that the scar tissue that has built up over and around the sores may actually be helping to protect the wound from further damage. We have been told to watch Rosie for any new symptoms that may indicate that her osteopetrosis is impairing her further, such as breathing problems or changes in gait or activity level, but so far she seems to be managing fine. She is a gentle and very loving cat and we intend to give her the best quality of life we can.
Thank you, Ann, for sharing the story!
*It seems counter-intuitive, but even though bones become more dense in osteopetrosis, they also become more brittle. As a consequence, people with osteopetrosis often have repeated fractures. Generally (in people) these fractures are treated exactly the same way, as you would treat fractures in people who don’t have osteopetrosis.