2. The second scan(s) and amniocentesis

Wednesday morning was here, and we went to Tsan Yuk Hospital for the next scans. The doctor took her time with the scan. She was clear and kind but quiet. She then needed a minute to work out some important ratios. I hate these ratios. They haunt me.

Here’s why:

“Pregnancies complicated by lethal skeletal dysplasia had a significantly lower femur length-to-abdominal circumference ratio and were more likely to have a ratio below 0.16 than those with neonatal survival.” (http://onlinelibrary.wiley.com/doi/10.7863/ultra.33.6.1085/full)

The thoracic circumference to abdominal circumference also shouldn’t fall below 0.8.

Junebug’s were 0.88 and 0.15. One good, one not so good.

She didn’t agree with the previous Friday list of lethal skeletal dysplasias, but she was concerned with what appeared to be a slight curve in the thorax. As we’d learned from hours upon hours of midnight reading, one of the biggest indicators of lethality in skeletal dysplasia cases is a narrow or very small chest. The heart takes up too much space, there’s no room for the lungs to grow properly, and when the baby’s born, it can’t breathe. Science hasn’t found a miracle solution/substitution for such an incredible organ.

She mentioned to get a clearer picture of what the condition might be, I could have an amniocentesis procedure for karyotyping (when someone looks down a microscope at baby’s chromosomes to see if there are any parts missing or if structures are abnormal) and an aCGH genetic test, which is when a computer does pretty much the same, looking for mutations in certain genes that could tell us about what the diagnosis might be. They would also take blood samples from me and Erin to see if we had anything we may have passed on.

I had an amniocentesis procedure less than 30 minutes later. A lovely friend once told me that women are better at being strong for other people, than they are for themselves. Seeing Erin’s face when they showed us the needle, was proof of that—I had to hold it together, because I think he was going to lose it.

Three days waiting for results of whether Junebug had Trisomy 13, 18 or 21. Seven days for the genetic array test, and two weeks for the karyotyping sample. Plus, another follow-up ultrasound in two weeks, on Valentine’s Day.

A second opinion

When we had the first scans, we were beside ourselves. We didn’t want to tell anyone or share what was happening or what we were going through. But we did. With our close family and a few close friends. Some of those close friends were so supportive, looking for any way they could help, that one recommended we speak to the obgyn that had delivered her babies, who was a maternal fetal medicine specialist. The hope was that we’d have a little more time to have someone explain the situation to us. It was a lifeline in a blur of confusion. Words cannot express our gratitude. 

We went to see the doctor the next day, where I reeled off the numbers we’d been told the day before (you’re not able to take your medical records away with you from the public hospital system) so there was just my patchy memory to rely on.

The doctor was clear, direct, frank and honest. “There are two outcomes. One is lethal the other is not lethal. Lethal is much easier, because when the baby is born, it can’t breathe and it dies. The other is more complicated. The baby will have a disability, you need to know that will be difficult. You need to think how this will affect your families, how they’ll respond, who will look after the baby. Does your husband understand? It’s much harder to know what to expect.”

Erin and I had already had this conversation, dozens of times, over the years we’d been together. I had worked as a caregiver with individuals who had profound disabilities when I was at university and had been a personal caregiver to an individual who had no limbs. I have a cousin who has an intellectual disability, and another who is deaf. When you get to know people with disabilities, you don’t see them as any less human. We’d already discussed how important it would be for us that our children spend time with those who have disabilities. We are passionate about adoption—we had even tried to start the process in Hong Kong, but you need to be legally married for 3 years before you can apply. It never mattered to us whether our children are genetically ours or not. This pregnancy seemed perfectly timed. Erin and I had discussed what we’d do if our child had Down’s syndrome, or microcephaly, or a host of other conditions. It didn’t alter how we felt about our family and we didn’t see it as a punishment from a divine power. It was just different. Different was brilliant, as far as we were concerned.

It’s probably important to note that skeletal dysplasia is the generalised term for conditions related to what you might know as ‘dwarfism’. Different sources state different figures, but it seems there are over 400 known types, many of which haven’t been mapped and can anywhere from 1 in 10,000 to 1 in 500,000 births.

Hong Kong has a strange relationship with disability. 10% of the population have a form of disability, but it’s not as visible as it might be in other communities. We were praying for life, not for perfection, but we knew there were some who—understandably—didn’t feel capable or able to consider that possibility. The doctor told us about a patient of hers who had a termination at 24 weeks (the legal cut-off in Hong Kong) because the baby had a cleft palette. That was very, very hard to hear. But I had to remind myself, it’s a choice for every woman. Even if that choice may not be the choice we would make.

The doctor did an ultrasound and started measurements. As much as I’m coming to dread ultrasounds, seeing Junebug is always amazing. Their legs might be small, but they were kicking away.

After the scan, we were given some hope to keep hoping. The doctor didn’t think it looked lethal, but reminded us that we would need follow-ups and that it could be too soon to tell. She said, that if we have the baby, she’d love to meet them one day. I held onto that so much. She also told us about two girls she knew in Hong Kong born with a rare form of skeletal dysplasia, and how they are thriving today. Those two girls I’ve since come across in the writing and posts of their mum, whose experiences in Hong Kong, is the closest to home that I’ve found (Her blog is here: http://madeline-hope.blogspot.hk/). Learning and reading about her experiences which are shared so honestly and candidly; from finding out the diagnosis, to the happy lives her beautiful daughters have today; has been a beacon of light for me.

Interestingly, at my latest appointment at the public hospital, the doctor there also spoke about knowing a patient with two daughters (same mum, same daughters) – this family have impacted this world so much more than they realise.

So we left the appointment, eyes full of joyous tears, that there was hope our little one would live and we’d get to meet them.

But we still had to wait another two weeks to hear back from test results and for the next scan.