Same, same, but different? Meet Rosie, another cat with osteopetrosis.

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.

Rosie & Ziggy April 2015

A furball with piercing green eyes. Meet Rosie, another cat with osteopetrosis.

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.

Rosetta May 2011

Rosie in 2011.

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.

XRAY_Rosie_normal_BUB

You can see that Rosie only has very slightly increased higher mineral density (the brighter bone areas on the X-ray), especially when compared to BUB. This could be because Rosie had much later onset 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.

Rosie2

One happy cat – despite osteopetrosis

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.

5 thoughts on “Same, same, but different? Meet Rosie, another cat with osteopetrosis.

  1. Michael says:

    This cat does not have osteopetrosis. It is characterized by a vastly different clinical presentation with numerous other abnormalities. Sorry to burst your bubble, but whatever veterinarian diagnosed this cat incorrectly diagnosed it.

    Signed,

    A veterinary internist (i.e someone who knows what the hell they’re talking about.

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    • usymmons says:

      Hi Michael, thank you very much for your comment and reaching out to us. As you know (as a veterinarian), disease characterization is often a difficult task. Certain conditions can be highly variable on how they manifest/develop, even if the same genes are involved. In addition, non-related genes can originate similar phenotypes that can be grouped together even if the underlying mutations is different. For such reasons, an accurate diagnosis is crucial to provide an adequate treatment. Would you be interested in elaborating more on your diagnoses: we think this could be really helpful for many pet owners!

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  2. James Thomson says:

    My eleven year-old daughter’s kitten has been diagnosed with osteopetrosis. We’re a bit lost as there’s so little info available on what we can expect for the wee fella. Our vet seems to think that he has months rather than years to live and that we should put him to sleep now. Lil Bub’s story gives me more hope but our insurance has rejected the claim and won’t cover anything to do with the condition. So no cover for X-rays or the fractures we expect him to have. He’s hurt his leg tonight and is vet bound in the morning. I’m afraid they’re going to pressure for euthanasia and I don’t feel like I have enough information yet.
    I’m glad to have found this site and am off to see what information you have available.

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    • usymmons says:

      Hi James, we’re really sorry to hear about your kitten’s diagnosis. Unfortunately, we are not veterinarians and so we can’t really make a recommendation, especially because osteopetrosis is a complicated disease that can be caused by different mutations (in humans), and these different mutations have different severity outcomes. Have you tried reaching out to LilBUB’s dude?

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  3. James Fleming says:

    We have,thanks. Mike has. Given us some good advice and we’ve had a reprieve for T’challa. He’s going in for X-rays on his newly injured leg and we’ll see what treatment he requires. The vet is still very pro-euthanasia for him but we feel he deserves a chance.

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