The Little-known Chromosome Disorder Every Woman Struggling To Have A Baby Should Know. Doctors Rarely Test For It – And A Diagnosis Can Spare You YEARS Of Heartbreak

Hailey Avery was overjoyed as a clear blue line appeared on the pregnancy test.

Despite experiencing hormone issues since the age of 15 – including painful menstrual cycles and side effects from the contraceptive pill – she fell pregnant naturally at 22.

‘I wanted a family but doctors told me I would struggle to fall pregnant. I’ve always wanted to be a mother, but my hormone issues were at the forefront of my mind,’ Hailey, 29, from Utah told Daily Mail.

She and her husband Taylor, 34, were delighted she’d fallen pregnant so quickly.

But the happy moment was short-lived: she sadly lost the baby at ten weeks.

Hailey fell pregnant again months later, but had another miscarriage at six weeks.

At the time, Hailey was unaware she carried a rare chromosome disorder known as a Robertsonian Translocation – a condition that significantly increases the risk of miscarriage and infertility.

Fertility specialist Dr Alex Polyakov explains a Robertsonian Translocation is a ‘specific type of chromosomal rearrangement that involves two of the acrocentric chromosomes’ – chromosomes that have ‘very short arms and long arms’.

Hailey was only tested for the disorder after her fourth miscarriage, receiving her diagnosis in 2021.

While the condition doesn’t cause health problems for the carrier, it can ‘significantly impact fertility and pregnancy outcomes, leading to a higher risk of miscarriage or chromosomally abnormal offspring’.

Robertsonian Translocation can affect both men and women, requires genetic testing for diagnosis, and currently has no cure.

The condition affects approximately one in every 1,000 people – meaning an estimated 25,000 Australians may carry the disorder.

Looking back, Hailey wishes she’d known about the condition sooner, as she likely would have pursued IVF earlier to avoid the complications she faced with natural pregnancies.

After her second miscarriage, Hailey’s doctors – though not fertility specialists – broke from standard protocol and offered her early support when she fell pregnant a third time.

‘They told me, “We don’t normally intervene until you’ve had three consecutive losses, but you’ve had two back-to-back so we’ll help,”‘ she recalled.

Hailey was prescribed progesterone and baby aspirin to help sustain her pregnancy.

Sadly, her child only made it to 14 weeks.

In January 2020, she was thrilled to discover she was pregnant yet again, but this time there was also an underlying level of fear.

‘I just kept hoping and praying this baby would stay. I was scared and didn’t want to lose another,’ Hailey said.

‘At 14 weeks, I had an ultrasound that showed a stack of fluid, which is a sign of a genetic abnormality. So my obstetrician sent me to high-risk specialists.’

There, she learned her baby girl had Turner Syndrome, a condition where only one X chromosome is present.

The baby was very unwell and passed away at 16 weeks in April 2020, which broke Hailey’s heart.

Her doctors explained this loss was due to a random chromosome abnormality and encouraged her to try again with medical support when she was ready.

The repeated miscarriages affected Hailey in every way possible – emotionally, mentally, physically – and also impacted her relationship with Taylor.

She even told him: ‘You can find someone who can have a baby – someone who can give you what I can’t.’

But Taylor never wavered. The pain of repeated miscarriages could have driven them apart, but instead it brought them closer together.

‘I knew this would either make us or break us and we talked about it,’ Hailey said.

Hailey and Taylor then decided to take a break from trying for a baby to give them time to grieve. During this time, Hailey also started to see a therapist.

‘Miscarriage is very easily dismissed and no one really talks about it. I didn’t realise you really go through labour and have contractions – it’s painful. With the third pregnancy, I was not okay,’ she said.

In December 2020, Hailey thought her ‘Christmas miracle’ had arrived as she found out she was pregnant, but she suffered another miscarriage weeks later.

‘At that point the doctor said, “Something is clearly going on – we need to send you to a fertility specialist,”‘ Hailey recounted.

In May 2021, Hailey and Taylor visited the specialist to have genetic testing.

Not long after, she was finally diagnosed with Robertsonian Translocation.

She had never heard of the condition before, nor did she know how it could impact her chances at motherhood.

‘During the call, the doctor told me I had a 15 per cent chance of a successful pregnancy,’ Hailey said.

‘I just felt broken. It was so horrible. I wouldn’t wish it upon anyone.’

Now the couple’s only option was to try IVF because pre-screening of the embryos would mean specialists could implant the healthiest one, giving Hailey a better chance of carrying to term.

They spent a year saving the $20,000 required for the treatment.

Deep down, Hailey knew this was their last chance.

The IVF process was challenging. Hailey said: ‘Egg retrieval is terrible. I was doing three shots a day for two weeks, and then I did egg retrieval on July 24, 2022. We got 21 eggs, which is a good amount.

‘From that, we had eight embryos that developed and we were able to test and freeze… we had three healthy embryos. I couldn’t believe it!’

Further testing revealed the only female embryo to be the strongest; it was subsequently implanted, and Hailey conceived.

On May 25, 2023, the couple welcomed their baby girl Poppy into the world.

‘She really is our miracle baby. I feel so blessed. She’s perfect and we could not be more in love. She is everything we dreamed of,’ Hailey said.

Still, the trauma of past miscarriages has left Hailey ‘terrified’ of getting pregnant again.

‘In April last year, I had an unexpected natural pregnancy and I was just so distraught because I knew what was going to happen. I assumed I would miscarry,’ she said.

‘I was trying to remove myself from it, you know… but when there’s a baby inside of you, you can’t.’

Early screenings and genetic testing at 11 weeks showed that her baby – a boy – seemed healthy, giving her hope.

However, during the 15-week ultrasound, doctors found fluid sacs similar to those seen in her third pregnancy.

Further testing revealed her son had Robertsonian Translocation and severe heart issues.

Hailey carried him until 19 weeks before losing him, describing the experience as ‘deeply difficult and traumatic’.

After that, she decided to have her fallopian tubes removed in October 2024.

‘When my doctor told me that was an option, I was like, “Can we do it tomorrow? I can’t do this again,”‘ she said. This means she can now only fall pregnant via IVF.

Two years on, little Poppy is happy, healthy and does not have any known issues. While there is a chance she could be a carrier of Robertsonian Translocation, it has not caused any problems so far.

The condition is only detectable later in life, and Hailey can only hope she hasn’t passed it on to her daughter.

Looking back, Hailey wishes there was more research about Robertsonian Translocation, and women’s health in general.

‘It’s really frustrating and I wish I knew about the disorder sooner. You can find out through a quick blood test, if you ask for it and can pay for it,’ she said.

‘Advocate for yourself, ask for all the testing and know that you’re not alone.’