Guidance on % Allele Burden test

[IrishSarah]

Hi friends,

I’ve been MIA for a while adjusting to life with our gorgeous baby! I hope you’re all happy and and feeling reasonably well 💚

I’m about to restart pegasys after a 1 year break and it’s reignited my niggling desire to know my MAB %

I’ve no doubt we’ll take this post down a rabbit hole discussion about all sorts (as our community of smart cookies tends to do 😂) BUT before that happens I’d appreciate if anyone could help answer the following

1. Is allele burden measured from blood sample or is bone marrow required?

2. Is there any way to have this test done privately in Ireland? Or as part of a current research study/trial? Or by any private lab/provider in Northern Ireland, UK or elsewhere?

Unfortunately it’s not available via public health system in Ireland, including from my MPN specialist.

Thanks!

[bruddery]

hi there. Be very interested to hear the replies, especially as I’m in Ireland too. What a gorgeous baby. Congratulations and enjoy all the special moments children bring. Janice

[IrishSarah in reply to bruddery]

Great to hear from you Janice! It’s a small gang we have here 🇮🇪 I’m in Dublin under Eibhlin Conneally’s care

[bruddery in reply to IrishSarah]

I’m with Clodagh Keohane down in Cork (I’m from Kerry). I had a couple of conversations with Eibhlin when I met her at the Forums. Who knows maybe I met you too if you were at one of them. Good luck with it all. Janice

[IrishSarah in reply to bruddery]

Oh lucky you, what a gorgeous part of the world, we take at least a couple of trips to the kingdom every year (usually Cloghane direction). Look forward to our paths crossing at some stage!

[bruddery in reply to IrishSarah]

it is a possibility. I love the Dingle peninsula and I really love the Maharees… so we could meet up who knows!

[EPguy]

I can't help on the Ireland part, (US resident). But for MAB (or VAF or AB as it's variously called) it is proper in recent times to get this from either BMB or blood sample. The main restriction is to compare results from the same procedure, blood to blood BMB to BMB. And preferably from the same lab. Since blood is much simpler, and BMBs are rare or less frequent, most of us get our regular allele readings via blood.

Some reports show these two ways give near same results, but we see on the forum that some members experience quite a difference between the methods. I was 19% BMB, 14% blood at Dx. Others have seen much larger differences.

[IrishSarah in reply to EPguy]

That’s great info thanks! Bloods should be sufficient for my purposes so. I’m not so concerned with the actual %, more interested in tracking my trajectory over time on pegasys. Don’t fancy another BMB unless it’s really necessary 😅

[tracey13 in reply to IrishSarah]

Congratulations on the birth of your gorgeous baby girl.

My husband had a blood test when he was diagnosed with PV his alle burden was 63%. He's never been told or had it rechecked in the 10 years he's had post PV Primary MF.

He had one BMB back in 2018 which revealed primary mylofibrosis.

He's on ruxolitnib and has been for almost 4 years and is doing fine . All his bloods are in normal range now.

Hope you get some answers.

Tracey

[hunter5582]

What a glorious baby! You are truly blessed.

No clue about a JAK2 Quantitative Analysis in North Ireland. I would think it is a test that could be ordered by your NHS doc is the doc feels it is warranted. I know it is done in other parts of the UK NHS. The test can be done with a blood sample as EPguy indicates.

I just has my allele burden checked. it has dropped from 38% to 9% in 18 months on interferons. While there is still debate on what this means, I would say reducing VAF is a whole lot better than getting a stick in the eye. Definitely better than having the VAF increase.

Glad to have you back on the forum. All the best moving forward and give the beautiful baby a big hug from me!

[IrishSarah in reply to hunter5582]

Cuddles from uncle Hunter have been delivered 💚 She’s a blessing for sure - full of personality and mischief already!

I’m with you on the stick in the eye theory! I can’t help but feel like reduction in anything is a positive sign. Reading reports from ASH 22 indicates the same. Delighted to hear you’re doing so well on Interferon, how are finding Besremi vs Pegasys?

I’m in Republic of Ireland so it’s the HSE running the show here, not NHS. Would be happy to take the short road trip up North or across the water to the UK. Afaik the NHS won’t accommodate me as I’m not a UK citizen. I think there were exceptions pre-brexit but we won’t open that can of worms 🙃

[Fluffylittle in reply to IrishSarah]

My dad will happily snuggle babies all day any day! I have a great picture of him cuddling my Aline when she was just a wee bairn. If he says it's okay I'll post it :).

I really hope you're able to get the test approved. Sometimes it just takes persistence to get things approved. I have had to fight tooth and nail with my insurance to get certain tests approved.

[IrishSarah in reply to Fluffylittle]

How does it feel to be the daughter of a rockstar? 😂

Aline is a beautiful name ❤️

[ciye]

Congratulations baby is gorgeous. I too would like to know this

[IrishSarah in reply to ciye]

Will keep you updated x

[LittleLuna]

Hi Sarah.

You look amazing and what a beautiful little one you have. So so very cute.

I am sure AB is from JAK 2 blood test. I am due another one soon to check AB level.

I am always interested in Irish MPN care as might return home one day. Currently living in Scotland and not easy to access MPN Specialist.

Hope you are well. And hugs to little one. X

[Cja1956]

I really don’t have much information for you, but I just want to say what a beautiful baby you have. Enjoy every minute.

[Woodlandgarden]

Hi Sarah, it is wonderfull to see you & baby are doing so well. I was wondering how things were going for you. Thank you for sharing the lovely photo of you both. She is a dote and just like you has a beautiful smile 😊 I have limited knowledge of allelle burden etc but will be very interested to hear how you get on with your quest.

As an aside or another rabbit hole!

How were your bloods managed when you were on break from Pegasys? Were you put on alternative medications?

I collected my monthly prescriptions from my pharmacy yesterday but received only one weeks supply of hydrea. My pharmacy informed me there is a shortage of hydrea & they won't be getting any more till the 31st January.

I subsequently checked the HSE website & discovered they were listed as in short supply in mid December.

Given this sedgeway re drug supplies I would be interested to hear if anyone is aware of the affect changes to meds or indeed no meds can have on our allelle burden.

I'm looking forward Sarah to reading your lively & interesting contributions again. Welcome back.

Lots of hugs to you & your bundle of joy ☘️

[IrishSarah in reply to Woodlandgarden]

Thanks Eithne! Hope you’re keeping well.

I kept same dose of aspirin & Pegasys initially, and added daily LMWH (innohep) as planned. Platelets went down to 250 and hovered around that mark for entire pregnancy which was great. Increased blood volume helped!

Around 5months into pregnancy my haemoglobin had dropped while shape of red blood cells looked fine, so it wasn’t anemia but it felt like anemia - pure exhaustion. Eibhlin reckoned it was side effect of Pegasys. Our priority was protecting my pregnancy and she was confident that up to a year (if I’m remembering correctly!) break from Pegasys wouldn’t cause any problems. No idea if the same applies to Hydrea, I’m sure Dr Conneally would be happy to answer that query if you give Elaine a call?

Blood counts held really well, no bleeding or clotting issues, elevated BP that was well controlled and never developed into pre eclampsia. As Dr Conneally had predicted I was “high drama but uneventful”.

Platelets have been on a slow creep upwards and some of my old symptoms returned- mostly joint pain so I’m keen to get back on Peg.

Hope the Hydrea issue gets sorted for you soon 💚

[EmeraldA]

What an absolutely beautiful baby and you are looking so well with motherhood too Fabulous! . I'll ask at my next appointment on the 8th Feb Sarah. There is also the Mosaicc study that is looking for volunteers that are newishly diagnosed and that is extending to the south. They take blood and I wonder if they would take an AB reading? I can ask that too. I can also ask about private appointments too - since that is what everyone has to do here now anyway with the way things are. B X

[IrishSarah in reply to EmeraldA]

I’d really appreciate that! Thanks a mill 💚 Hope you’re keeping well x