The "R&D" stage of waiting - my experience so far and a few questions for the Brain's Trust (Australia)

[learning4viv]

My husband and I have always been on the same page about ensuring we had explored a range of medical questions before TTC. Our current plan is to start TTC in January (so close!). I thought this list might give others some tangible steps that you can take while waiting that should make the path easier down the line (hopefully).

Best get yourself a beverage/snack, this is long.

The list consisted of:

1. Immunity testing
2. General bloodwork to test levels (iron, vitamin D etc.)
3. Genetic testing
4. Semen analysis for my husband
5. Come of the pill 3 months prior to TTC
6. Start prenatal vitamins 3 months prior to TTC

We started attending a GP practice which has a specific lean towards families and conception. This was after our normal GPs scoffed at our desire to do genetic testing prior to TTC. More details on that below. What we haven't done is asked for our prior medical records to be shared to the new GP, that is likely a bit of a mistake.

When I first booked at the new practice, I asked if there were any Drs taking new patients who had a special interest in conception/fertility and was told that there was, so I made an appointment with her. I specifically asked for a longer appointment (a type B consultation, 30 minutes. Most consultation are type C and 15 minutes long). This would cost more (the Medicare rebate is increased a bit too) but I wanted to make sure I gave the doctor enough time to talk my husband and I through everything.

Later on I rang to reschedule the appointment (it was not last minute) and I think in this process we were given to a different doctor but I had no knowledge of this change. The impact of this (although nothing disastrous) will be seen in point 3.

The details and our results so far:

1. I knew from previous talks with my normal GP that women are preferably tested for their immunity for chicken pox, mumps, rubella and measles prior to TTC. If you aren't immune, they will administer a vaccine, you must then wait 3 months before TTC as the vaccine can be harmful to the fetus.

My husband was tested for the same for our own knowledge and his own health, this isn't required. We both came back as immune to all so we can move on from that step.

Wooping cough and flu vaccines are given during pregnancy so that immunity passes to the baby.

1. My blood work came back showing that my iron levels are ok (which is surprising given that I have had slightly lower levels consistantly in prior years). But I am lacking a little in Vitamin D, the doctor has said to take Vitamin D tablets for the next 3 months and then we will re-test. In addition, the most surprising is that my thyroid is lower than normal. I don't think I've ever had my thyroid tested. My Dr wants to re-test the thyroid in 1 month (which is soon) to see if it was an anomaly due to a small cold or similar.
2. My cousin (not by blood) and his wife have a beautiful son who unfortunately has Cystic fibrosis (CF). This is a genetic condition which, among other things, puts him at great risk of being in hospital often and a life expectancy of 30-40 years. Neither my cousin or his wife had any family history of this disease, they did not know that they were both carriers of the gene mutation and were unlucky enough that both mutated genes passed to their son, resulting in the CF. 80% of

This is why it was important to us to test to see if we were carriers of as many genetic conditions as we could test for. Most people don't do genetic testing unless they have a family history of the disease, which is why our normal GPs weren't supportive and led us to seek out a practice that was. Even in doing so, the first GP that we saw advised us to undertake a test from QML (an Australian pathology lab) that would test for 3 major diseases. As I was researching how to pay for the test (you must pre-pay for this one, somewhere between $200-$300, not covered by insurance), the QML lady on the phone mentioned a more expensive test which tests for the common mutations related to 175 different conditions. This test was $800, however, it had 2 added features (in addition to being a much broader test). If your results came back positive for any mutations, they would A) test your partner's genes at no additional cost and B) provide you with a genetic councillor at no additional cost. This is called the Counsyl test, QML administers it.

I was disappointed that given how clear we were about our desire to undertake genetic testing and gather as much data as possible upfront, our GP had not mentioned the existence of this test. This is where I saw the impact of the doctor switch that I mentioned above. I called the surgery and spoke to the receptionist to ask about the possiblity of the doctor signing the form for the Counsyl test. She was surprised that it wasn't mentioned in the appointment because the doctors had just received training on this test a few weeks back! Luckily the doctor was willing to fill out her section of the paperwork (I had pre-filled my details to save her time and increase the chances of them being willing to do it) and I didn't have to go back in, they scanned and emailed the form to me.

By the time my schedule allowed me to go and get all of my bloodwork done Counsyl is also just a regular blood draw), it was about 1 month later. I knew I still had to pre-pay for the Counsyl test so I rang the day before to give my details (I think you can also do it online). Turns out they had just lowered the payment amount to closer to $600! Procrastinating for the win! The QML collection centre I went to had never seen the Counsyl request form before but they took it in stride and all went well.

At our recent appointment to discuss the results we learnt that I do not carry any of the mutations that they tested for. This is great news! It also means that we will not be testing my husband as both parents need to be carriers of the mutation for their to be a chance of the child having the condition.

I'm really glad that we pushed for the broader test, this is something I won't have to test for again with future children.

1. We asked at our first appointment for a pathology request for a semen analysis. We had no reason to believe that anything was wrong, but our thought process was that it is a non-invasive test and we know from the get-go what we have to work with. We also had friends recently who had a SA done early and it led them straight to IVF. They would have wasted a year without this knowledge, so why not just get it upfront?

Although the request was for QML, Sullivan and Nicolas (S&N) will take QML forms and vice versa (I don't believe that S&N has a Country equivalent). Not many QML locations perform SA as the lab has to be given the sample asap and not all locations are attached to a lab. He found a S&N location that suited better so he just took the QML form to them.

My husband rang in advance to give them the heads up that he would be attending for an SA, you can't book but it ensures they are prepared to process the sample quickly.

Although our doctor had given us a sterile sample jar to take home, he felt more comfortable giving the sample at the collection facility so that he didn't have to drive with it and worry about keeping it to the right temperate. He obtained a sample cup from the receptionist and was then pointed to a accessible bathroom. No inspiration, no special room, just a bathroom. Then you walk the sample back to reception in a brown paper bag.

Our doctor discussed our results, everything is normal but concentration per mL was 14 million. This is considered normal (

 

[stillbelieve]

@learning4viv The top dog seems to be Elevit. Flagging just in case you don’t know, the iron in it will turn your poop black.

 

[learning4viv]

@stillbelieve Elevit does seem to be the only one I've really heard about, as well as the only one I ever get ads for, haha!

Thank you for that warning! I would have been a little freaked when the time came otherwise.

Edited: to change "Levi" to what I actually meant - "Elevit"

 

[kendrick]

@learning4viv I am also Australian and it sounds like we're in exactly the same headspace with regards to planning for conception.

A few months ago we started the process and I needed the MMR vaccine again because I wasn't immune to Mumps. Glad we found that out now and not when we were wanting to conceive!

We also opted to have genetic screening done with S&N and my partner's came back clear, but I am a carrier for two things which I have a 1/400 chance of passing on. My GP has referred me to the genetics department at our biggest local hospital to see what the implications of that are, but I haven't gotten an appointment yet.

Apparently one of the things I am a carrier for means that I am at a four times higher risk of developing cancer. I am so glad that I found that out now, so I can keep on top of monitoring and so I can also make sure that my family also get tested (if the geneticist thinks they should). So I guess that's an added bonus that I found that out now.

I got my Implanon out in May and we are just being careful at the moment because I wanted to get into a regular cycle pattern. It wouldn't be the end of the world if it happened early (we're thinking of trying in October), so we feel like we can afford to be more risky with the lack of birth control.

To get ready to conceive, I have started temping which I have found super interesting. It's really cool to see my cycle properly recorded. I have used the Clue app for years now, but since starting this process I have also been using the Femometer app with their Bluetooth thermometer (from Amazon) to record my BBT. It makes it super easy because it syncs to my phone. It's great for me because I have to get up at 3.45am to go to work, so it makes the process really convenient. I've also been using LH test strips (from Fertility2Family) to confirm ovulation - but I only started those this week and have yet to see ovulation. So I can't confirm if they actually work, or if something is up with me just yet.

I've been taking Elevit as the GP said that they're basically what everyone uses. She said to start taking them a month before, but I started earlier because I read somewhere that that can help. It can't hurt I recon. Just keep in mind too that Elevit contains (a small amount of) Vitamin D, so just check with your GP first before taking both Vitamin D and Elevit.

 

[learning4viv]

@kendrick Thank you for pointing out that Vitamin D is also in Elevit. I checked at our last appointment and the Doctor wanted me to continue with the separate Vitamin D and then add in Elevit.

I hope your appointment about your genetic results went well. My guess if that because your parent was clear that they just wanted you to know that your children might end up as carriers. I hope it was that simple.

I've been temping too, it's so fun to get new data every morning! I use the Tempdrop so that I don't even have to think about anything except turning it on before bed.

 

[kendrick]

@learning4viv My doctor has me taking both Vitamin D and Elevit too. I think the Elevit only has a small amount of Vitamin D in it.

The genetic results were fine. I'm a carrier, but my husband isn't, so there isn't a high chance of me passing it on. Nothing to worry about there.

I've been thinking about changing to a Tempdrop so that I can get more accurate data. Where did you get it from? Did you find a local stockist? I'm just concerned that if it breaks or something and I need to return it, it would be a pain to send overseas.

 

[learning4viv]

@kendrick I got it straight from the Tempdrop website and I sorry about it breaking all the time! My main concern is actually that I didn't sign up for the battery renewal plan. My current (bad?) plan is just to hope that we are lucky and will be able to stop using it before it wears out. Fingers crossed for that.

I will also say that I'm allergic to nickel and get a reaction from the clip part. There is a Tempdrop group on Facebook (unfortunately you need to have purchased one to join) where people have shared their own designs for Tempdrop arm bands which look way better than what it comes with. I think I'll look into making my own. Love the sensor, it's just the accessories which let it down. But I love not having to wake up at a consistent time so much that everything else pales in comparison.

 

[okegold]

@learning4viv Wow thank you for sharing all this info!
Do you know how the 23 and Me + Health test compares to the genetic testing you would get from a doctor? I’m in the US so idk if we have the Counsl test, but I’m just wondering if you had considered the 23 and Me at all. My husband and I have already done that but I’m worried it doesn’t test for everything a professional would test for.

 

[learning4viv]

@okegold Unfortunately I don't believe that 23 and Me would test for the same markers.

I would do some Googling for "genetic carrier screening" and see what comes up. My guess is that there would be more options in the US.