Posts Tagged ‘Mucopolysaccharidosis VI’

This unique, special dog has been part of our family since November. It’s obvious something is wrong with her but our veterinarians were all perplexed. We’d resigned ourselves to simply knowing she was born with deformities. Despite them she is thriving!


In the past few weeks we’ve found what it is she has. Mucopolysaccharidosis VI (MPS-VI) is extremely rare. It afflicts humans and a few known dog breeds. Most dogs do not survive. They are euthanized early on due to pain. * Grimmy has shown no pain in the 6 months we’ve had her. *

In MPS VI certain large sugars (polysaccharides) of the body are not properly broken down. In MPS VI, the deficient enzyme is arlysulfatase B, which is responsible for degrading dermatin sulfate. MPS VI is autosomal recessively inherited and has been seen in cats, humans, and more recently in dogs (including the Miniature Pinscher).

MPS VI results in skeletal deformaties, including defects to the sternum, vertibrae, and particularly the hip joints.  To various degrees, they may also experience corneal cloudiness and facial dysmorphia.

Diagnosis is done through a blood test done by PennGen.  At this time, there is no effective treatment for this disease.

This is an excellent site for more information: MPS-VI in Miniature Pinschers.

Once we were certain MPS-VI is what Grimmy has our thought was to reach out to the researchers at the University of Pennsylvania School of Veterinary Medicine. Let’s have her tested. After a long talk with her wonderful vet, Dr. Beth from The Animal Hospital of Lake Mary it was decided our money would be better spent toward an echocardiogram. Potential heart defects are clearly on the horizon. Dr. Beth has clinically diagnosed her with MPS-VI. Her x-ray speaks volumes. Back in November her blood work indicated organ issues along with severe anemia. Through love and proper nutrition we’ve been able to improve those lab results. Now in May she’s only slightly anemic and her organs are functioning normally! If we knew where she came from (other than being found stray in Sanford) then testing would be essential. Stopping the breeding of dogs who carry this gene is crucial to the well-being of all Miniature Pinschers.

You see the malformed spine, displaced trachea and jumbled sternum.

You see the malformed spine, displaced trachea and jumbled sternum.

Grimmy & Dr. Beth

Grimmy & Dr. Beth

Our original plan when we brought her home was to give her the best quality of life possible. That has not changed with our new information. The fact she has improved is amazing! Now we know about this disease we are taking necessary steps to keep her comfortable for as long as possible. She has a great life! She sleeps in bed under the covers between Scottie and me every night. She loves lounging in the sun. She is a professional bone chewer. Grimmy has an extensive wardrobe. She decided early on she didn’t want special treatment. I tried to keep her safely in a crate when we were gone. She was having none of that. She wanted to be a dog like everyone else. Grimmy somehow knows where every comfy dog bed is, though she cannot see. She chases the cats. She “protects” me from my Blue Heeler when we’re on the bed! She is a hoot. We adore her.

Grimmy in one of her many outfits.

Grimmy in one of her many outfits.

Grimmy has her own Facebook page. We hope to inspire and educate.

Go to: https://www.facebook.com/GrimmyLivingwithMPSVI


Read Full Post »