The last day in February each year is World Rare Disease Day. It is a time for those affected by rare disease to share their experiences as well as raising public awareness of often overlooked conditions. Here, Nicole Luk tells of the moment she learnt that her unborn baby had diastrophic dysplasia - a rare genetic condition that affects cartilage and bone development and leads to dwarfism.
February 17, 2010 will be a date I remember for the rest of my life. A couple of weeks earlier, we'd been told that the results of our Down syndrome screening test were not ideal and that we had a one in seven chance of having a baby with Down syndrome. We'd spent those two weeks researching and educating ourselves and still managed to feel quite positive.
After much discussion, we decided to do the amniocentesis so we could have as much information as possible to prepare for whoever this little baby would be.
We walked into the appointment a little scared, but as prepared as we could be. As our doctor began the scan, the mood changed. Almost instantly, he said, "I can tell there are some abnormalities with the skeleton. I'm fairly certain this is not Down syndrome, but the amniocentesis might not give us any more information. This is beyond my expertise, I need to refer you to a prenatal diagnostic specialist."
Even in that situation, I asked "Can you tell the gender?"
"It's a girl," he replied.
We went back into the waiting room - a place that had previously been a place of anticipation, excitement and joy - and we cried muffled tears, surrounded by other expectant couples. We were advised that the prenatal diagnostician could see us at her clinic in an hour and a half, so we left to have a very quiet lunch.
At our next appointment, the news was delivered blow after blow. Skeletal dysplasia. Quite possibly lethal. We can't tell until around 30 weeks what chance the baby will have at survival. Amniocentesis quite likely will not give any answers. Termination is an option (I'm grateful they respected our choice to carry to term regardless of the outcome).
I remember Bernard asking, "What are the chances that the growth will catch up and that the baby will be healthy?" The doctor replied "virtually zero".
On that day, I stopped loving ultrasounds as I recognised their true purpose was to prepare for babies like mine, not to give you a snapshot for the baby album. On that day alone, I had around one hour of ultrasound. Since the baby wasn't in the right position, we needed to come back the following day for more. I brought home around 50 images of every single inch of my tiny baby's body.
After hours spent in a doctor's office, we took a taxi home, utterly exhausted and scared for what the next six months might bring.
And in the taxi, I asked Bernard, "What do you think of the name Madeline Hope?"
The last day of February every year is world rare disease day. Two out of my three children are affected by diastrophic...
Posted by Faith Hope Joy - diastrophic dysplasia on Sunday, 28 February 2016
Nicole and her husband Bernard lives in Sydney with their family. Two of their three daughters, Madeline Hope, 5, and Briella Faith, 2, have diastrophic dysplasia. You can read more about the family's story by following their Facebook page or blog.