Family planning and HSP

Posted - September 2013 in Living with HSP - Management & Treatment News

A second couple’s story


In the previous (Winter) edition of the website, we brought you the story of a couple in the early stages of undertaking an IVF program in the quest for a baby free of HSP.


Here, a 2nd couple, Sarah and John of New South Wales, tell the story of their IVF journey…


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When John and I decided it was time to start a family we were as excited as anyone would be. After a couple of months though, John and I admitted around the same time that he may be affected by whatever it was that affected his mum and brother – which was all a bit of a mystery to us at the time.  Trying to get pregnant naturally went on hold while we separately thought through possibilities and all the huge consequences both for John and for our future family.  We agreed we needed to make a deliberate decision about how to handle our family planning.

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After we both had time and space to think, we both knew that we didn’t want to bring a baby into the world to go through what John’s family had gone through, and what John may or may not go through in the future.  The uncertainty, the physical and emotional pain, and the difficulties with everyday life were all things we wouldn’t take the chance of passing on to our child knowingly. I knew that with every trip or stumble I would be wondering if it was the same condition. I would struggle to live with myself if it ended up being a severe case of HSP and I’d passed up the opportunity to remove that chance for my child.

I did some research and found our options to have our own child were prenatal testing or IVF (in vitro fertilisation). We were fortunate enough to have the means and the time to do IVF with PGD (pre-implantation genetic diagnosis). We chose to talk to Genea as there was some information on their website about testing for what looked like what we thought was the disorder. The really confusing part began here and this is why I wanted to share our story – if it makes this “adventure” easier for just one other couple, then it is worthwhile.  We thought we would be able to just rock up to the IVF clinic and be on our way to having a healthy baby.

Going to a GP to get a referral to a fertility specialist but trying to get them to understand that we didn’t think we had any fertility problems and wanted to find out about PGD was a nightmare. It seemed that the GP had never heard of PGD and didn’t understand what we wanted to do, and vaguely suggested it would be too hard/expensive/time consuming and why didn’t we just keep trying for a while – totally missing the point….  If we had understood more about HSP and knew what we needed to ask for I think it would have been easier, but it felt like it was the blind leading the blind.

Eventually we got the referral and then waited a couple of months to see the fertility specialist we had chosen, Dr Livingstone at Genea. On the same day we were to see a geneticist, Professor Graeme Morgan, who has previously contributed to the HSP website, who explained the inheritance pattern to us.  What we didn’t know before seeing Professor Morgan was that the disorder could be in a number of different genetic locations and that John would have to go through some testing which could take 6 months. We also didn’t know that we may not get a result, and then be faced with the decision about whether to go on and have children naturally, try testing overseas, or look at other options.

John’s family had previously been diagnosed based just on physical symptoms, so John had to go to a neurologist for a physical diagnosis and then be referred on to a clinical geneticist who would order the genetic testing.  John was diagnosed with HSP by a neurologist who didn’t offer much sympathy, compassion or any helpful advice on where to from there, but did write the referral for the genetic testing.

From the time we decided to try for a baby to the time John’s blood samples were taken, we were up to about 10 months and counting, and still not knowing if we would actually get a genetic result in the end.  7 months after that we finally got the phone call that the results were in and that there was a small never previously documented deletion found on the SPAST gene SPG4 – the most common location of HSP.  Though very sad that this meant a definite diagnosis for John, the relief was enormous, knowing we could move forward with the PGD.  I got back in touch with Dr Livingstone, and we were able to see him quite quickly and start the process for real this time….

We were warned there would be another period of waiting where Genea would create their own “work up” test where they took blood from John and me, combined it to create our joint DNA then tested it for HSP.  This took about another 12 weeks.  We were excited to start IVF finally, but very quickly it was absolutely overwhelming.  Lots of appointments leading up, waiting for my period to arrive, daily self administered injections, internal ultrasounds and blood tests every couple of days, the bloating & headaches, waiting for the phone calls with the results of how it was all going, the stress of whether it was going to work, both of us carrying on in our careers and John having to travel a lot for work in the middle of it all & leaving me home alone (though it was probably good for him with all the hormones flying around the house!).  It was absolutely exhausting both physically and emotionally and not as easy as we expected.

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The egg collection day finally arrived and we were so relieved to get heaps of eggs. It was not a fun procedure – I’ll leave it there! In the end we had 9 embryos develop far enough to be tested for HSP.  Waiting for the phone call to tell us how many were affected was probably the most nerve-racking part of the whole process because it could have meant we had done all of this for nothing – and it’s not cheap – though IVF is covered by Medicare, PGD is not at all (a whole other conversation that makes my blood boil). I think we were sitting at around $12,000 out of pocket, with all the other tests and expenses up to this point.  We were also thinking of our embryos as our future children while they were growing away in the lab, so knowing how they are progressing is totally surreal and emotional.

We had 4 HSP affected embryos and 5 unaffected embryos (little gold nuggets!) which was wonderful. We had a fresh transfer of one healthy embryo and I was getting positive home pregnancy tests, so we were excited & relaxed about the blood test. The news of my hCG hormone level wasn’t good though, and sadly that ended in an early miscarriage.

After the anticipation, it was a kind of devastation I won’t ever be able to describe in words.  No matter how early it is and what it is called clinically, a pregnancy loss is a pregnancy loss. We took a break for a couple of months & went on a couple of relaxing little holidays, which we both really needed. The medications affected me in ways I didn’t expect. I had a strange rash pop up all over my arms, legs, scalp and neck for a couple of months, my emotions were all over the place from the hormones & the loss, and my menstrual cycle really needed a couple of months to settle.  The subsequent frozen embryo transfer cycles was much easier to deal with physically as they worked in with my own natural cycle and even though the stress of waiting to find out if it had worked each time was still gruelling, there were no added hormones to make it worse!

It’s hard not to get obsessive about the process so it was really important to have support.  We kept the IVF to ourselves so we used a counsellor before & during the process, and it just happened that I ran into a good friend in the Genea waiting room one morning – it turned out she could use someone to talk to as well as they were also keeping their IVF to themselves.

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Finally, after the frozen embryo cycle, our precious baby arrived in May 2013. With 3 more embryos “in the freezer” in case we want to try for more children – though after all of this we agree we are happy just to start with one and see how we go!

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We appreciate and respect that PGD is not a process everyone would choose or agree with but we would be very happy to hear from anyone via the HSP Research Foundation who is considering PGD to share further.

We feel very humbled that we were able to donate our affected embryos for stem cell research and we truly hope this leads to better treatments and maybe even a cure for HSP.

We are deeply grateful to the compassionate, intelligent & committed people who have made it possible for us to have our own healthy baby – Dr Livingstone, Professor Morgan, the embryologists & nurses.  Sincere thanks also to the HSP Research Foundation and all who maintain & contribute to this website which helped us understand the basics of what we were dealing with.

Comments on this story

  1. Sharon posted at 8:17 am on 2 September 2013Reply

    That is the most beautiful story. It is wonderful to hear that they have also donated the affected embryos for research. What a truly lovely family. Thank you and congratulations on your precious baby.

  2. Heather posted at 5:55 pm on 4 September 2013Reply

    Sarah & John congratulations on your precious gift. What an emotional journey for you both and I understand your PGD decision as my husband has HSP and all our 4 children present with HSP.

  3. Linda posted at 9:48 pm on 9 September 2013Reply

    Congratulations on your precious baby..I can fully understand your journey to have a HSP free baby..I myself don’t have the condition but my mum does and is/was very prevalent in her family, her cousins etc..Enjoy your baby & anymore to come..

  4. Sarah posted at 3:20 pm on 16 September 2013Reply

    Thank you ladies, and our very best to you and your families too.

  5. Chrisanthy posted at 3:26 pm on 27 September 2013Reply

    Your story is truly inspiring, gives so many others out there hope. Congratulations on your arrival.

  6. Cynthia posted at 10:00 am on 22 February 2014Reply

    Thank you for sharing so much of your story. I’m still awaiting confirmation of my own diagnosis, but with my symptoms and my mom and her brother having it, I’m not holding out hope. But at the same time, this story does give me a little glimmer that all is not lost. For that, I thank you. Congratulations on your beautiful family!

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