EPSM people...I have Cody’s results:-(

catembi

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Well, he already tested n/p1 but I just had a feeling there was more, so sent some more hair to the lab in Germany. He has also tested p4/p4 and px/px. I so much wish that I had been wrong. I have read the info sheet and it’s not good. I think I should probably retire him. At 6! And before this started, he was showing enormous promise. Oh FFS...!
 

catembi

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I am currently riding my 12.2 companion - 5 yo NF mare. I am starting to take her out n about and despite looking v silly on her, I am thinking about competing her, otherwise I am just going to be sitting at home, aren’t I? ?
 

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catembi

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He is so pretty and kind and talented! Such a waste! Aaarrrggghhh...! But I really can’t have 5 at home, hence having to ride the little mare while thinking what to do. I also have a sick note 16 year old ex racer and a Shetland.
 

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Asha

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Sorry to hear this , as seeing the others comments it mustn’t be good news .
What does it mean to be p4/p4 and px/px ?
 

paddy555

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Sorry to hear this , as seeing the others comments it mustn’t be good news .
What does it mean to be p4/p4 and px/px ?

below is the briefest explanation. . There is loads more (like pages of explanations) if you look on the equiseq site.

Cody is already positive for PSSM1 and as you will see these results when added to that are just about the worst combination which is so very sad.



EquiSeq's research has shown that PSSM type 2 is a chronic muscle wasting disease rather than a sugar storage problem. The biopsies of some affected horses do show glycogen storage abnormalities, but these are considered to be a consequence of other processes in the body that are the result of the ongoing muscle wasting. The genes causing PSSM type 2 are considered to be semi-dominant, meaning a horse that has one copy of a defective gene (for example n/P2 or n/P4) has the disease, but the symptoms will be more severe when the horse carries two copies of the gene (for example P2/P2 or P4/P4) or a combination of PSSM related genes (for example a horse that tests both n/P2 and n/P4). EquiSeq has given the genes they discovered the letter "P" plus a number to identify the different variants. So far, the following variants have been identified and offered to the public: P2, P3, P4 and Px.

P3 and P4 are associated with what is known in humans as Myofibrillar Myopathy.
Px has been associated with Recurrent Exertional Rhabdomyolysis (RER) and is found in Throroughbreds and related breeds. Technically, Px is not considered to be a PSSM variant, but it is listed here because its presence is known to aggravate the symptoms of P2, P3 and P4. Symptoms in horses that have PSSM and carry the the Px gene appear to be triggered by excitement or stress. It is known that the combination of several different genes causes RER to come to its full expression, the exact dynamics of which are still being investigated.
 

JJS

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That’s rotten luck. I also had to retire a very talented gelding at a young age (seven, in his case) and remember exactly how shattering it was ☹️
 

Asha

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below is the briefest explanation. . There is loads more (like pages of explanations) if you look on the equiseq site.

Cody is already positive for PSSM1 and as you will see these results when added to that are just about the worst combination which is so very sad.



EquiSeq's research has shown that PSSM type 2 is a chronic muscle wasting disease rather than a sugar storage problem. The biopsies of some affected horses do show glycogen storage abnormalities, but these are considered to be a consequence of other processes in the body that are the result of the ongoing muscle wasting. The genes causing PSSM type 2 are considered to be semi-dominant, meaning a horse that has one copy of a defective gene (for example n/P2 or n/P4) has the disease, but the symptoms will be more severe when the horse carries two copies of the gene (for example P2/P2 or P4/P4) or a combination of PSSM related genes (for example a horse that tests both n/P2 and n/P4). EquiSeq has given the genes they discovered the letter "P" plus a number to identify the different variants. So far, the following variants have been identified and offered to the public: P2, P3, P4 and Px.

P3 and P4 are associated with what is known in humans as Myofibrillar Myopathy.
Px has been associated with Recurrent Exertional Rhabdomyolysis (RER) and is found in Throroughbreds and related breeds. Technically, Px is not considered to be a PSSM variant, but it is listed here because its presence is known to aggravate the symptoms of P2, P3 and P4. Symptoms in horses that have PSSM and carry the the Px gene appear to be triggered by excitement or stress. It is known that the combination of several different genes causes RER to come to its full expression, the exact dynamics of which are still being investigated.

thank you paddy555.

I’m so sorry Catembi ?
 

catembi

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Thank you, everyone.

This is the sheet that I received with the results. The plan for now is to treat Tiffany (NF mare) as if she's my main riding horse & potter about to lessons & clinics, teach her to jump (work started on my arena today), do some v low level unaff stuff maybe. Obviously I won't be going mad as I am aware that I'm big for her. Then try to part with someone by the spring so that I can buy something else.

I'm going to end up with 5, aren't I...? I do NOT have the time or money for 5! I ought to sell the Shetland, but she's soooooo cute. It would be nice if she could be useful to someone, though. She deserves to be loved by a child.
 

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BBP

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I wouldn’t worry too much about the Px (RER) if you can learn to manage the glycogen storage issues. I know the MFM is more complex. BBP has RER (diagnosed by biopsy as it was before Equisec had these tests up and running). I run him on a track system to maximise movement, keep him warm, try to reduce exposure to things that stress him, and work around his tight days. Don’t let that part frighten you on its own. Although I did accept long ago that he isn’t a competition horse as it’s too stressful for him, he is a lovely hacking, schooling at home and fun horse.

The PSSM is more of a challenge I think, and the fact that you have muscle pain from glycogen storage which may be a stressor to affect the calcium regulation with the RER is an extra factor.
 
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meleeka

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I'm going to end up with 5, aren't I...? I do NOT have the time or money for 5! I ought to sell the Shetland, but she's soooooo cute. It would be nice if she could be useful to someone, though. She deserves to be loved by a child.
Obviously shetlands don’t count ?. If they did I’d have 5. I think they maybe count as a half, so does anything under 12.2hh That way I really only have 3 1/2?
Sorry to read about this awful news. It’s really not fair at all :(
 

ycbm

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It's extraordinary, isn't it, how many horses we now know have it, and how many it's probably in? Other horses I've had in the past almost certainly had it, one in particular where there was a half brother and a half sister who bucked a lot, and mine who was 'lazy'. It must always have been there, because Monday Morning Disease was known centuries ago, but when horses were kept in hard work and lived short lives, nobody realised. I feel very sad about the number of 'lazy' or 'naughty' horses struggling on undiagnosed.

Catembi, I sold my Shetland rather than buy her a companion, and there is nothing to beat the photos of a besotted little girl of three hacking out with her Mum or covering her pony in tinsel on Christmas day ?

.
 

SEL

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I saw your post on FB - I'm really, really sorry. I should probably get my appaloosa tested by CAG as well but I'm just sticking my head in the sand because I don't know that I'd treat her any differently than I do for her P1 gene.

I have a friend with a P4 diagnosis whose mare is improving immensely on amino acid supplementation so that might be worth looking at. Tri Aminos from Progressive Earth I think.

If its any consolation I'm also pony squishing! I am supposed to be selling her but I'm really enjoying having an uncomplicated fun ride (13h dartmoor x dales).
 

catembi

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Tiffany’s new slightly bigger saddle arrived this morning. Still 15” as she simply can’t take longer, but with longer flaps, so hopefully I will feel more secure. We will see.

Trying to summon the enthusiasm to get into the detail of EPSM management, but I think that all the variants have different and conflicting needs, and what works for one horse is detrimental to another. It seems to be trial and error and whimsy.
 
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