Our story

My initial diagnosis

March 15, 2018

Following on from my first blog where I shared my experience of secondary infertility and recurrent miscarriage, I’m expanding on my diagnosis in the hope that it might connect me with or help those in a similar situation. Perhaps you’ve had the NHS recurrent miscarriage tests and don’t know what steps to take next? Maybe you’ve been trying for some time and are looking for answers as to why you might be struggling to conceive?

Until very recently our case was ‘unexplained’. Our first son’s postmortem was incomplete due to the sample tissue being difficult to analyse and my initial test results revealed no underlying issues. Our karyotypes were normal and while I was diagnosed with an MTHFR gene mutation following our third loss it was explained to me that my single copy of the C677T mutation isn’t linked to recurrent miscarriage. It’s another matter in the US and Australia, something I’ll expand upon in a future blog, and so I do follow the fertility recommendations for those with the mutation.

Our first son’s postmortem was incomplete due to the sample tissue being difficult to analyse and my initial test results revealed no underlying issues

In August 2017 we lost our youngest son to trisomy 15, an extremely rare genetic disorder, and the only thing linking three out of four losses has been heartbeat detection. This led our consultant to repeat my thrombophilia screen with the aim of confirming an underlying clotting issue.

My results were normal, which was positive from his perspective, but I wasn’t content with the advice to take aspirin and try again. So I launched myself into a fairly intense period of private investigations in a quest to find answers. Surely there had to be more to my losses than “bad luck”?

Immune issues

In October 2017 I approached a clinic in London and given my history immune testing was recommended. A previous uterine biopsy showed that my Natural Killer (NK) cell activity was within a normal range, but I was keen to explore the blood tests. I had read Alan Beer’s book and there have been so many positive stories about women following the treatment protocols for immune-related issues and having successful pregnancies after years of failed attempts.

The investigations I had under the NHS fell under the bracket of ‘level 1’ testing and so with the private clinic we focused on ‘level 2’, otherwise known as the “Chicago tests”. These explore immune implications at a deeper level and revealed that I had elevated NK cells and raised cytokine levels, both factors in recurrent pregnancy loss.

Clotting issues

At the time of receiving the results for my NK assay, I was also diagnosed with a PAI -1 gene polymorphism, a mutation which when linked with my MTHFR C677T mutation presents a strong case for clotting.

Now, of course, we all have gene mutations of some kind, and some are active and inactive, but for me, this diagnosis came as a relief in some respects as it tied in with my NHS fertility clinic’s discovery of a ‘pattern’ linking most of our losses. I was content with the idea of moving forward with the treatment suggestion of aspirin on this basis and once my consultant reviewed my private results I was also offered heparin.

Hidden infection

While I was digesting my ‘level 2’ test results and proposed treatment plans, I approached another clinic, this time in Athens. The clinic specialises in hysteroscopies and they treat patients with a similar diagnosis to mine, so a detailed look at my womb with an internal camera seemed like a sensible next step. It would reveal any scarring following my four losses, one of which was a stillbirth in the second trimester and another involving an ERPC (Evacuation of Retained Products of Conception).

The clinic first asked me to consider a test called Hidden-C. Carried out by Locus Medicus in Athens, it would involve collecting and sending a sample of my menstrual fluid so it could be analysed. Part of me was screaming “WTAF” at the idea of it, but another could see that at a cost of $100 I had very little lose and a lot to gain. By this point in my journey, I had no shame in doing whatever needed to be done to find answers, even if it involved some slightly awkward sample gathering! The mooncup is a revelation to me by the way…

I had no shame in doing whatever needed to be done to find answers, even if it involved some slightly awkward sample gathering!

I tested positive for the infection, which was upsetting at the time, however, I’ve since learned that it’s extremely common. According to Locus Medicus there’s a “positive diagnosis for the presence of chlamydial infection in around 37% of samples investigated for infertility in the Greek and UK population”. It’s a very sensitive test and, in most cases, a course of strong antibiotics will help.

At this time my partner also tested positive for sperm DNA damage, another potential factor in recurrent loss, and so we each took the antibiotics to deal with the infection and damage. We were on a good supplement protocol but took steps to tweak them to better support egg and sperm health, further improve our diets (well balanced with the odd piece of chocolate and cake) and change our approach to exercise – an increase for Jonathan and a lighter approach for me as until that point I’d been giving it some!

When we go out to Athens in April we’ll find out whether the commitment we’ve made has helped.

Subclinical hypothyroidism

My thyroid panel was repeated and unfortunately, my Thyroid Stimulating Hormone (TSH) levels were raised. While at the upper end of normal for the average person at 4.69, they were above the normal range for a woman hoping to conceive and this resulted in a diagnosis of subclinical hypothyroidism.

From a fertility perspective and according to the advice I’ve received, TSH levels ideally need to be between 1-2.5, and the private clinic I’m dealing with would like me to get them as close to 1 as possible. My levels were 4 when I tested again recently and before starting medication, which at this time I’ve been on for six weeks. My thyroid panel was repeated again this week so I’ll hopefully see the levels fall very soon.

PCOS symptoms

I’ve had no less than 25 ultrasounds throughout my five pregnancies, the first of which was successful, and while I’ve complained of mild PCOS symptoms; irregular periods, weight gain, hair loss and oily skin, I’ve never had a PCOS diagnosis. At my last scan in December it was suggested that my ovaries were borderline polycystic, which doesn’t put me in the bracket for treatment according to our consultant, but I feel it’s important to work on this aspect of my health. Together with an expert in Chinese medicine, I’m slowly adapting my diet by decreasing sugar intake, reducing dairy and gluten, and trying to adopt a more relaxed approach to life. Not easy in an infertility setting!

During the scan, a possible fibroid was also detected and my lining was sub-endometrial, so a hysteroscopy is something I’m very keen to have while we’re in Athens. My hope is that a more detailed investigation will be the last piece of the puzzle whether it gives me more answers, addresses issues or simply confirms I’m a-okay in the womb department.

My hope is that a more detailed investigation will be the last piece of the puzzle

Ultimately, the results I’ve had and the work I’m doing to address my diagnosis is about having faith in my body and giving me the confidence I so desperately need to try again.

You can read more about our journey in my proposed treatment plan.

Sarah x

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  • Reply Reachingforourrainbow March 18, 2018 at 8:11 pm

    Hi Sarah, thanks so much for taking the time to write this! What a journey you have been on……so far. So sorry for your losses.

    I have loads of questions but don’t want to bombard you……

    I am really interested to know what made you pursue the private tests?? Did you have any niggling concerns about particular symptoms or experiences from your pregnancies? What made you go to Athens, did you think you might have an infection?

    Did you have a ‘ normal’ pregnancy & delivery with Cora? And were you able to fall pregnant easily? Also I was wondering how old you are, if you don’t mind…..

    I hear what you’re saying about focussing on the children we have here with us. My little boy has just turned 3 and I know how blessed and incredibly lucky we are to have him. But it can be really hard to put the brakes on sometimes and focus on what is here, as well as the future, so well done you.

    Don’t suppose you’ve been making beef bone broth? My accupuncurist has recommended it for improving fertility health……

    Thanks again for writing…..I have my appointment for the first round of tests in April after 3 miscarriages in July ’17, Oct ’17 (twins) and Jan ’18……..

    Wishing you all the love, health and good fortune in the world….

    Ps: loving the tattoo what a beautiful tribute!

    • Reply Sarah March 20, 2018 at 5:28 pm

      Hi Olivia

      Thank you so much for taking the time to read my blog and add the first ever comment. It means a lot! And I’d be happy to answer your questions and help in any way I can.

      It seems our journey so far has been very similar and I’m incredibly sorry for your losses. Losing three babies in quick succession was one of the hardest periods of my life. The grief was compounded and it’s the reason I chose to take an initial break of 6 months. This time I expect our break will be a minimum of one year.

      I pursued private testing because I had no answers. Recurrent miscarriage testing was carried following our first loss at 16 weeks and so you could say I had something of a ‘head start’ on this recurrent miscarriage journey. It wasn’t until after our fourth loss that we met with one of the professors at our local fertility clinic and he had a “hunch” that there was an underlying clotting issue, however, my thrombophilia panel was clear (and had been tested twice by that point) so there was no real proof. I was scared to take the recommended aspirin and try again because I wasn’t 100% convinced I needed it.

      Private testing was definitely worthwhile as my level 2 tests, which I had done with a clinic in London, revealed a gene mutation called PAI-1. This paired with my MTHFR gene mutation is a risk factor for clotting. The NHS doesn’t currently offer the PAI-1 test but it appears to be recognised as my NHS treatment plan has changed to include heparin as well as aspirin. So that will be my minimum protocol. I feel comfortable with that aspect now because there’s a clotting pattern to my losses (heartbeats and growth detected in 3/4) so there’s enough info to indicate it’s right for me.

      The clinic in Athens came up in my research a few times over the last year. More recently my sister-in-law put me in touch with a friend of hers who, after years of fertility struggles, had her first child following treatment there. So I got in touch for a second opinion and, given my history of recurrent loss, they suggested I do the hidden infection test before visiting. I didn’t know much about it at the time but felt it could do no harm and it was low cost. There’s also some evidence to suggest that it could have contributed to my immune issues so I’ve decided to repeat the immune tests next month too. Re-testing is an expensive approach but I want to be certain I’ve done all I can, for my mental health as well as my physical health.

      My pregnancy with Cora and subsequent delivery was completely normal. Each of my five pregnancies resulted from trying the first time and so conception hasn’t been an issue for us, although I did do some research into ‘unfussy uterus’, something that’s still being explored in recurrent miscarriage research. I decided to put that to one side though because progesterone (which is being discussed in relation to my treatment plan) was offered in the trial.

      I was 30 when we conceived Cora and she’s a healthy and happy 3-year-old. Very much unaffected by all of this thank goodness. I’ve recently turned 34 so as far as the NHS fertility clinic and private clinics are concerned I have time on my side and Cora is our best guide to the future. Whatever is causing our losses appears to have occurred since her birth, or since Harris’s, and I suspect it’s a combination of factors. My gene mutation isn’t new so it can’t be the only cause, but together with my diagnosed immune issues and partner’s sperm DNA problems, it could be that we do need to address a number of areas.

      Thank you for your good wishes and all the best with your tests in April. I think it’s really important to exhaust your options with the NHS before seeking private support. We can compare notes!

      Sarah x

    • Reply Sarah March 20, 2018 at 5:31 pm

      Hi Olivia

      I meant to say, I do make bone broth. Every week!!! Usually from organic chicken or beef bones. Seems to work really well when I pop them in the slow cooker overnight. Much clearer juices and I don’t mind drinking it from the mug but more often than not I add it to soups or stews.

      I’m working with an expert in Chinese medicine who specialises in fertility and he’s going to be supporting me with making some more dietary changes this week. So I might share some recipes on Insta as I progress along if you think it might be helpful.

      Thanks again for getting in touch.

      Sarah x

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