Balanced Robertsonian Translocation / PGT

[Kappi]

Hi all,

I’ve been on these threads for a while - 3 miscarriages, 0 children.

I have been through all the tests - seen many specialists, have been fortunate and received wonderful care throughout. However, I haven’t found a board for those of us with balanced translocations - which I have.

I have a Robertsonian balanced translocation I’ve got- 13:14 which means creating embryos that are viable is a struggle!

we have started Ivf with Pgt testing - only the first round failed - as we never got enough embryos to the testing stage.

I thought I’d document how I get on, in the hope that it gives anyone else out there in the BT boat that they’re not alone.

sending love and comfort to anyone that reads this! It’s a lovely place but we aren’t on our own

x

@JJ1121 how are you doing? What are the next steps for you?
@Pvoong good luck with your trc journey! I have heard that 13/14 Robertsonian has better odds than recipricol translocations :)

I do have one child from conceiving my sister has same disorder has two healthy kids

@Timetotryagain hi! Thanks for checking in. I had another euploid transfer today. We did a medicated transfer this time so hoping that makes a difference. How are you getting on?

I am trying on my own with Chinese herbals meds and acupuncture for the next 3 months if it fails then I’ll ivf with pgt-a and SR

@JJ1121 oh wow! Glad your transfer went ahead :D are you going to early test? How are you feeling??

@Pvoong hopefully you manage to conceive naturally!

@Timetotryagain I am resisting the urge haha. I have a blood test on Saturday. How are you doing?

Hi everyone! Update our side - we've had our funding approved and have our first consultation with the clinic on the 8th. If anyone has anything that we should ask or that you wished you knew please share ☺️ my list of questions is growing!

@JJ1121 keeping my fingers and toes crossed for you!!!!
I am good, 23 weeks now and feeling baby move lots which is surreal :)

@Moosey898 fantastic! What clinic did you decide to go with again? I remember the first consultstion being quite pessimistic from their side but i guess they want us to have realistic expectations with our translocations!

@Timetotryagain we went with TFP Oxford - logistically it just made the most sense for us to get to for all the appointments and we can use their satellite clinics too for monitoring etc which takes 30min each way off the journey too.

Interesting that they were pessimistic - I'm on the fence about expectations if I'm honest. I've had 5 pregnancies, at least 3 of which haven't had my translocations (2 were genetically abnormal but not my issue), so that shows at least some of my eggs should be "normal".

Do they purely check for your translocation(s) or also other potential abnormalities? Knowing I've had a couple of losses because of other genetic reasons I'd be keen to at least check for the main trisomies as my translocation means I can't have NIPT either.

@Moosey898 best of luck with your first consultation! When I first started, I didn’t realize that genetically normal embryos still needed to be tested for the specific translocation. For example, with our second round, we had 8 blastocysts, 5 euploids, but only 3 were balanced (2 were unbalanced). So yes they first check for chromosome abnormalities and then your specific translocation.

I will also say I had a much better egg collection result on the long protocol (as opposed to short) so might be worth asking your consultant which is best for you. wishing you well!

Thank you so much! I'll definitely ask about long v short protocol in the consultation. Want to ask absolutely everything we can so we can prep for our first cycle as soon as possible afterwards.

How are you doing holding off on testing?

@Moosey898 i was with with TFP oxf :)

We did short protocol as thats just what they recomended and i found the meds they used really used friendly and easy! So they do pgt a testing and pgt sr so they check for any chromosome errors and then check for the specific translocation.

For me i had 11 eggs collected, 7 fertilised, 6 blasts

And then the 6 blasts i had:
1 euploid
4 unbalanced translocation
1 random chromosome error

Were you NHS funded as well? I've found them super helpful so far, so I'm hoping the rest of the experience is as good. It's great to hear you have had a good experience with the meds - I was a little worried I'd get confused 😂 not worried about needles, just logistics!

So your one euploid is the current pregnancy? If so that's fabulous ☺️

@Moosey898 yep nhs funded and the euploid embryo i transfered in July and now 23 weeks :)

Yeah once i eas in the treatment cycles they were really good as well and always there to answer any questions and so lovely! I think you will have a good experience with them :D

@Timetotryagain that's brilliant that your transfer was successful, I'm so anxious about not getting any normal embryos, it's really helpful to hear from someone who got one and it worked.

How long after your initial consultation did you start prep for egg collection? I'd love to get going as quickly as we can but not sure how long it takes to sort all the meds etc. I'll have a full month after our consultation until the start of my next cycle x

@Moosey898

My timeline was:

Funding approved mid jan,
Consultation end of jan
More paperwork and blood tests and random admin in feb
Got meds ordered and delivered by them statt of march
Treatment cycle started mid march then

What i will say is you do have to be very proactive with it as they will sit on things for a few says but basically as soon as one thing was done i.e blood test i would call asking them what the next step was and what they needed from us for the next steps etc. Filling in the forms takes FOREVER and you have to do it twice once for you and then seeprate one for partner even though its exact same information videos and forms. So make sure you set aside a full evening or two for it etc

Thank you! I've done some forms in their portal already and it felt like loads and yup - duplicated for me and my partner! So annoying 😅 we have pre consultation tests next week ahead of our appointment too. Sounds like I should be starting Feb latest which isn't too bad. I'll definitely be proactive, thank you!

@Moosey898 I’m surprisingly doing ok not testing yet haha. I go in for my blood test on Saturday which measures HCG levels. I think my clinic likes to see at least 100. Last transfer was only 30 and then two days later 15. So hoping for a better outcome this time!

Oh you're doing well! Not sure I would have the willpower 😂 hopefully you get good results this time around 🤞🏼x

@Timetotryagain congrats on reaching 23 weeks!! Have you found out gender yet?

@JJ1121 good luck today! Do they let you know the results today?

@Moosey898 yep and then for the FET you have to watch and sign the same videos again 🤣🤣

@Timetotryagain got the results! It’s positive! with an HCG level of 398! last time the level was 30. So really hoping it’s a strong little one this time 🙏

Omg thats amazing!!!!! @JJ1121

Wishing you all the best that thinga continue in a positive direction for you 🤩🤩🤩

How do you feel?

Amazing news! Will keep everything crossed for you 💕 Does your clinic get you in for a scan in a couple of weeks?

@Moosey898 @Timetotryagain thank you both! ❤️ Feeling very hopeful. Yes, I think will do a scan in two weeks. Feeling very thirsty and tired so far.