Rory

[mickey]

I thought I'd do an update on here as not everyone is on Facebook. I know I haven't posted much recently (I'll admit Facebook took over) but I used to be fairly active when we first got Rory.Hes never been an easy pony, and has tested us. We've always felt there was something wrong and that he wasn't being malicious or nasty when he lost the plot, which he has done on a number of occasions. We've spent years trying to get to the bottom of it, he went to rainbow for nuclear scintigraphy to try and work out a lameness and it came back fairly inconclusive . He had shock wave for his si, steroid in his hock, he's had a tooth out.... Each time we've thought we'd cracked it. His muscle enzymes and liver have been very high the last couple of years and we finally bit the bullet and sent hair samples to America . The results show he's positive for PSSM 2 and has 2 copies of the P3 gene so is more severely affected. Sad to finally have this diagnosis, but also relieved.

[harveydales]

This is very interesting - thanks for posting. It is so much easier to talk about these things here rather than non FB. You must be relieved to finally have answers.

I knew you were suspecting PSSM but didn't know (or had forgotten) the full list of Rory's history. Would all of this have been connected to PSSM 2? It's so long ago that I went into this with Harvey when I thought he might have it too. Harvey only showed the tying up symptoms and the very occasional "losing the plot" episodes which I put down to skin issues. I must read up more about it, particularly as science has moved on since I was looking into it. Will you be able to manage it through diet etc? I imagine you are already using PSSM type diets for him.

[Debbie]

Gutting, but at the same time at least now you have a diagnosis and you'll be able to tailor his needs to better accomodate him. Are they able to do the hair analysis for PSSM 2? There's some arguing over whether the 2nd type can be tested via hair, or if it has to be only biopsy.

[mickey]

He's always been a pain. We started with occasional rears, always with no warning whatsoever and he doesn't think twice about going over. Or rear spin. If he goes up you've no hope. But then it was never often enough or predictable enough to work on. We had a period of lameness that ended up at rainbow for nuclear scintigraphy. Came back slight hock arthritis and slight si pain. I think it was only the last day they saw him lame. He always parks after a schooling session, Welsh cob style. He often looks not right but without being able to pin it down. It came to a head a few years back where he totally lost it and decked Lu. As soon as she was off he was horrified and stopped dead. I got on and have never ever ridden anything so tense. Every muscle was tight. It was like he'd tied up but could move. We ran bloods and his liver came back high as did muscle enzymes. He had a liver and muscle biopsy. Both were clear. Ran PSSM 1 test which was all that was available then and it was clear. He's done little since. We moved into our own yard and riding has taken a back seat. This winter he's looked awful, no weight and dropped muscle. Also lame. Ran bloods etc and sent the hair to America which is how he's come back as PSSM 2.

[harveydales]

Gosh, I had no idea the symptoms had been so dramatic. It must be frightening and very worrying. No wonder you are relieved to have some answers now. I still haven't had time to read up fully on PSSM2 (got Andy off with a tummy bug taking up my time). So with the high oil/low carb diet and gentle exercise, will he improve? Is the management similar to PSSM1? It would be very interesting to trace the genetics...

[Debbie]

The results show he's positive for PSSM 2 and has 2 copies of the P3 gene so is more severely affected.

I'd not heard of the P3 gene, nor have I seen it mentioned for testing here. How did they find it? Was it more hair analysis? If so, could you please give the link to the company you used.

Over here there's become a desire to follow the Gypsys and Fell Ponies and test for the PSSMs as well as the FIS. There are some individuals who act like they have PSSM, but they've turned out to be clear after testing.

Is it a dominant gene? Or perhaps I should be asking if the variations are dominant, or are they recessive like the FIS? I'm curious to track the bloodlines as well, but equally know how rare our breed is. If you could maybe pm me his bloodlines that might be better? I wouldn't like people to start shunning near relatives for example. Last thing we need is more of a bottleneck trying to clear up one genetic problem and ending with loads worse.

Rory is so lucky to have you for an owner! I know so many people who would have completely thrown in the towel ages ago.

[mickey]

Debbie the test was done in the states by equiseq. They are working on finding new variants all the time and now test for 3 variants I think but are working on another 2. We did P1 test a few years ago which was negative, muscle biopsy didn't give any answers so this is the first time we've had a real diagnosis. PSSM is a bit of a misleading term for it though as it's not so much a glycogen issue like on P1. It's unfortunately a dominant gene however Rory has 2 copies, probably as he's so inbred rather than it being widespread. Fis is recessive. Also the symptoms are worse if they have 2 copies rather than 1. I'll message you

[harveydales]

That's all very interesting.

[tinkeralison]

So what happens now Em, can you make him comfortable with feed/ management or is he retired now?
I bet you have been thru a real rollercoaster trying to find out x

[mickey]

He's on different feed and supplements so we'll just see how he gets on. He's put weight back on which s good and we've found something he will eat (he will go on hunger strike if it's not to his expectations... Simply mixing his mix into his sugar beet and nuts too early results in him refusing a feed!

[harveydales]

Good to hear he's put weight back on and hope the new feed regime works. Not like a Dales to be fussy over feed although, having said that, Eve is the same. When I first got her she was like a hatrack and didn't seem to know what a feed was and had no idea what an apple was!

[mickey]

We've had him long enough to be used to him now 😂. He usually eats a bag plus 2 scoops of a new bag before refusing point blank to eat it. He's on Saracens relieve at the mo and he won't eat the last couple of scoops as it's too bitty 🙄. Won't eat it if it's mixed too early either. He gets the sugar beet as it means we can mix his amino acids and vitamin e in. Tried Alfa a oil feed and he refused to even taste it !

[Debbie]

So hard to believe he's this fussy about food. I don't think I've encountered one that was picky? About the only thing Bloss refuses to sample are mints, otherwise anything is fair game.

What a challenge! Thank you for the message and helping me understand this variation.

[harveydales]

Emily, would you please message me also with the information on variation etc. As you know, at one time I did suspect Harvey might be a sufferer but we then decided his problems were down to pulled muscle but we were never 100% sure and it got me looking into PSSM.

[mickey]

All the info I have is on the equiseq website www.equiseq.com Rory came back as P3/P3 which I'm still trying really understand 😂 I do wonder how many are affected in the dales.