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Ragdolls and HCM research.

post #1 of 12
Thread Starter 
This has been announced on one of our Ragdoll lists, and permission has been given to crosspost. This is so important for the Ragdoll breeders.Hi Everyone,

We are happy to announce that Dr Meurs has found and identified a mutation that causes HCM in Ragdolls. We can now begin testing for this mutation in our cats.

Dr Meurs was hoping to make this announcement herself, but the in scientific world, she can't say anything until her work is 'peer reviewed' and published in a Scientific Journal. It has now been reviewed, and will be in a publication that is due out June 15th. After that time, she will make her formal announcement. Up till this point we have been asked to keep the news kind of quiet until the big announcement is out. However, with it being posted on the website of the University word has been getting out. So we decided to go ahead and announce it, and hope people will understand that Dr Meurs can't comment on it yet.

The lack of formal announcement won't make any difference to you though, as the test can be done without the announcement from her. We just want you to understand where this is coming from. On the website <http://testyourcat.com> are the directions for obtaining the swabs to do the test with, and how to send in blood (recommended for nursing kittens). The prices for the test are posted also, along with FAQ's that you should take time to read.

Ester, Dr Meur's assistant, has agreed to come on The Open Forum List to answer questions that may not be covered on the FAQ. She said she will try to read the list a minimum of once a week, so we have to be patient with our questions. We (the committee) will try to answer any questions that come up in the meantime, if we have the answers.

There are three possible outcomes for the test. One is negative. This is the best. The other two are Positive/Hetrozygous (Pos/Het) meaning that the cat is carrying one mutation for HCM, and Positive/Homozygous (Pos/Homo) meaning the cat is carrying two copies. As of now, we do not have any statistics as to whether one mutation will not cause HCM, or cause it later in life, etc. That will come when we have enough cats tested so we can gather that info. We think we can agree that it is better for us if the cat only has one mutation rather than two, because it can be bred out in only one generation, but that's all we can say about it at this time.

There are two important things Ester would like to pass on. One is, that the AVERAGE turn around time for the tests is 2 weeks, but that is not written in stone. Sometimes there is a mistake in cutting out the DNA for the test, or something else goes wrong, and they have to retest the swab. The second thing she says is that it is important to remember is that this test is ONE STEP in a decision on which cats to keep and which cats not to keep. DO NOT DO ANYTHING RASH when you get your results.

In the Maine Coon, the statistics show that about 35% of the Maine Coons have the mutation, with just 4% having two copies. This is too large of a number for the breed to cut out all cats with one mutation. The recommendation is to breed cats that are Pos/Het with a Negative cat, and keep a replacement that tests negative. To simply wipe out one third of the breed could do more harm than good. Ester will talk more about this when she gets on the list.

This is wonderful news for all of us, and our hard work raising money for this research is paying off. Congratulations everyone. Great Job. However, this doesn't mean we can stop the research now. There could be other mutations out there. This is a good start.

Hopefully all of us will work together, without finger pointing, to eliminate this mutation from our breed. It will be a long and hard path to this end, but it will be worth it. So let's all work on getting our cats tested, and trying to rid our breed of this particular problem as quickly, but as safely as we can. Up until now, trying to find out which cats have HCM and which don't, has been quess work. Now we have a real tool to work with. Remember that we will probably all be affected by the findings, so let's have patience and treat each other with kindness and compassion, so we can do what is best for the breed.

One more thing. Since there will now be a big rush to have cats tested, we are suggesting that only current breeders and litters be tested at this time. No pets or alters should be done until we get the majority of breeder results back. There will be time for pets and alters later.

Please pass this on to other lists that you may be on. It's important for everyone to know about this.

Thanks everyone,

Your HCM Fundraising Committee

For those who would like to help with Ragdoll research, please go to www.ragdollresearch.org. They are gearing up for the 3rd annual HCM auction, and it always attracts many wonderful gifts for everyone, and a great way to find Christmas gifts, while helping the Ragdoll breed. You can also give personal donations as well.
I will be one of the first in line to have all of our breeding cats DNA tested and once this becomes a reality so should all Ragdoll breeders to eliminate this horrible heart disease.

Go Dr. Meurs!!
post #2 of 12
I know this might be dumb and I should know what it means but what is HCM? Was thinking hip dysplasia but I know that's wrong
post #3 of 12
Thread Starter 
HCM is Hypertrophic Cardiomyopathy is a deadly genetic heart disease that affects all breeds including mixes. So far, breeders have only had the chance to ultrasound the heart on a yearly basis, to look for signs of HCM, which is the thickening of the left ventricle of the heart as the cat ages. Some cats can show signs early in life, and some can still have it, but not show it on ultrasound for some years. Right now scanning has been the best defense, but still doesn't stop a cat from breeding and showing clear for many years, and then it showing up at age 5, as an example.
It has been said that the gene found in Ragdolls in not recessive, meaning at least one parent would have to have the gene to pass it to 50% offspring, if a cat does have HCM is a death sentence, but with new diets and medications, they can live a little longer, but most pass with a blood clot and in much pain and pass in their owners arms before making it to the vet.
Ragdolls are not out of the woods even though they have found one gene, as they will continue looking for other HCM genes that we could make a DNA test for.

I am in no means the best person to speak with about HCM, there is many things I am sure I have missed when speaking of it, and I don't want to say the wrong thing or make a mistake. So in that, I think the best thing is to send you to this link, which will explain things more than I.


I can say that I believe Steve Dale is who started research for HCM, when he began the Ricky fund, after his loved Devon passed of HCM. http://www.winnfelinehealth.org/Pages/RickyFund.html
Here is about the Ricky fund.

It is not just Ragdolls or Maine Coons, it is any breed or non-breed that can be affected. It is my opinion that all Ragdoll breeders should scan yearly as a precaution until research develops the DNA test, it certainly isn't perfect, but it is the best we have. All of our breeders were just scanned and the results read by a board certified cardiologist, showing that right now the hearts of our cats show normal, no thickening of the left ventricle, but that doesn't mean my cats DON'T have HCM, it just means, they "could" be very slow in showing symptoms. One may scan negative this year, but positive the next year, and that would mean that the kittens out of the affected parent could possibly have HCM as it is genetic and hereditary. It has been thought that the Ragdoll breed would show symptoms early, example before age 4, but we are now seeing cats scan clear for 7 years and then showing positive at age 8, while that seems to be more rare, it is still a caution.

Another thing that may interest you is Dr. Kittlesons HCM study with his Maine Coons. I am not advocating what was done, but these studies are what help aid in the future, so those of you who don't agree with Kittleson's method, don't kill the messenger.


For those interested in HCM, there are many great links out there, and I suggest the first place to start is with the Winn Feline Foundation, Steve Dale has joined the board of directors, Dr. Susan Little is president, and that is where I usually start when I am trying to find information about our cats.

I hope this helps GK!!
post #4 of 12
I'm glad this was announced yesterday. We have already swabbed our cats and the sent the test kits in. Hoping to get the results around 6/12/07. This is vital to the breed!
post #5 of 12
Thread Starter 

That is wonderful news!! Please let us know the results when they come back, and a bit more about this testing.
This has been such amazing news for our breed, I think right now most of us will have more questions than answers. I have asked questions, and get those answered, but then on to more questions.
I look forward to seeing more research unfold, as well as a clearer percentage as more Ragdolls are tested.
From what I can tell, this does not mean to stop scanning with ultrasound, this will just mean one of the genes has been causing HCM, and will be identified with DNA.
All of our recently scanned clear, but I will really hope that we can get on the list to give the DNA swab.
If you can answer any general questions that I may not have answered clearly, or maybe you might can give more information on Ragdolls and HCM, or HCM in general with cats.
This is so exciting that your Raggies were tested, I will anxiously await the results with you. Always wishing you the best!!
post #6 of 12
Thanks for posting this. I don't own a Ragdoll, but my DSH, Peter, was diagnosed with mild HCM last year I'm always interested in learning more about research associated with the disease. Peter's doing well on daily medication and his last ultrasound showed no progression of the disease. He'll be 3 in July and hasn't shown any obvious symptoms other than a slightly enlarged heart and very slight thickening of his left ventricle. What's interesting about Peter's case, and led to the decision to have a cardiac ultrasound done was that he and two of his male littermates (there were 7 kittens in the litter) all have heart murmurs. I haven't had contact recently with the woman who adopted Peter's brothers, along with one of his female littermates, but I did inform her Peter was diagnosed with HCM and she was planning to talk to her vet about ultrasounds for her males. Neither her female or my Claire, also Peter's littermate, appear to have any heart issues.

Again, many thanks for the information!
post #7 of 12
The way I understand it is that the scanning should continue as the DNA test at this time is another tool. it (as you said) only identifies 1 mutation and HCM could be caused by a combination of genes. The interesting part is that they don't know how dominant this mutation is when it heterozygous. So performing the scanning would help with that research.

We just had two scanned negative so I'm courious to see there DNA results.

I believe there is going to be somesort of database that breeders can submit their results. The data submitted will not be disclosed as to which cat or cattery the results came from. I think the main purpose is to build statistical data. I personally have no issue with submitting my results and hope most breeders will do the same.

We also had our cats tested for the Maine Coon mutation. Since they are in many lines. Especially the Lynx. Both tests can be done at the same time.

I think the main issue here is for us breeders to work together to breed out this mutation. To accomplish this we are dependant upon each other. Such exciting times in the Ragdoll World!
post #8 of 12
I also wanted to add that at this time the goal should be to test and collect the needed data.

One should not overreact by euthanizing, spaying or neutering positive cats. Our gene pool is small enough. Let's hope that we don't repeat what happened to Maine Coons when their test came out.

Nothing has really changed except for this new accurate and affordable tool along with the ability to collect data. Over time this data and statistics generated from it will guide us in our decisions with the goal of elimination.
post #9 of 12
Thread Starter 
I am so sorry to hear about Peter, but that is great news that there were little signs of progression on his latest ultrasound. A heart murmur can be indicative of HCM, but not always. I only want to point this out, as this is a breeders forum. Some may feel a heart murmur is HCM, when there are many different grades, and some kittens may have what sounds to be a murmur early in life, and outgrow it, but certainly should be monitored. If you would like to be be contacted by someone who has lived through HCM, and has had a vet who was able to help the cats live a long life through certain diets and medicines, please let me know. I don't think they would mind speaking about their experience, and possibly helping in suggestions in Peter's care. It also gives you a chance to speak with someone who has experienced this before. I wish Peter and his siblings a very long, happy life. Bless you for taking such wonderful care of him. Hugs to you both.
post #10 of 12
Thread Starter 
Originally Posted by marsch21 View Post
I also wanted to add that at this time the goal should be to test and collect the needed data.

One should not overreact by euthanizing, spaying or neutering positive cats. Our gene pool is small enough. Let's hope that we don't repeat what happened to Maine Coons when their test came out.

Nothing has really changed except for this new accurate and affordable tool along with the ability to collect data. Over time this data and statistics generated from it will guide us in our decisions with the goal of elimination.

I completely agree, this test should only help us with giving us as breeders a little more knowledge in our breeding decisions. This test alone should not be our only tool, but just another used along with ultrasound scanning.
I would hope euthanizing would never be considered as there appear to be many advances in helping the HCM positive cat to live a longer life.
I do look forward to seeing the statistics as more and more cats are placed in he genepool.
While I am so excited about this new found knowledge, it is creating just as many questions as answers, and you are so right in that we should not over react to any of the data in a positive or negative direction. I do hope as a breed group, we can work together and do so in a positive way.
Bellyrubs to your crew and hugs to your family.
post #11 of 12
This is so wonderful! This is such a big step for ragdolls and every other breed as well!
Thank-you stormi for posting this, as always you share such valuable, thorough information, it is very appreciated!
post #12 of 12
Thread Starter 
[quote=celestialrags;1808797]This is so wonderful! This is such a big step for ragdolls and every other breed as well!

Hi Leslye,

This is wonderful news and a big step in research. Right now this gene they have found has ONLY been found in the Ragdolls, with the exception of the Maine Coon mutated gene, if you find an outcross to a Maine Coon, even further back in ones pedigree, having both tests ran at one time, would be beneficial.
There are over 200 genes in the human body that can be responsible for human HCM, so that would leave one to believe, that just because researches have found one mutation, doesn't mean they won't find more. Which is why the research will continue.
Doing annual ultrasound scans along with this new DNA test should prove to be more helpful in our decision as breeders, but not our only tool. This test is still new, and the more cats tested the better idea of what the factual statistics will be.
There is no need to thank me, but all the Ragdoll breeders, vets, pet owners, and last, but certainly not least, the many wonderful vets and researchers who have taken a lot of time to help us with our chosen breed. Just because we have been fortunate to have this one mutation found, is just more of a reason to continue our donation efforts and for us not to forget our 3rd annual Auctions to raise money for this special cause.
For those interested in the FAQ about this DNA test for our Ragdolls, please click here.

One can also follow that link for information on the Maine Coon breed or mutation. One can test for one or both, both if there is suspicion on an outcross brought in.

We are planning to get the test done soon. We are expecting a new addition to our Ragdoll family, and since our 2 young females will be kittens, we will DNA test before we HCM scan, as we begin scanning around 12 months and try to do the scan annually after that. Scanning right now is still very important, and needs to be continued, and used along with the one time DNA test.

The Auction will be starting to ask for donations of items to raise for Ragdoll research, those of you who would like to help with item donations, please go to www.ragdollresearch.org and if one would like to eventually try and buy the nice items that are donated, I will post when the auction website is up and bids begin to be taken. This link will also take one to another link to donate funds, it is very appreciated.
Hope all is well with you. How old are your Rag babies right now? We are in expecting mode right now, but no babies. We get to focus our attention on our newest addition Serafina, and wait for news of even a newer addition to be added soon, her name will be Sarabi. Once she is here in the next coming week or 2, I will share her with all of you.
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