Osteogenesis Imperfecta: Emma’s Story

Months before being born, Mya was diagnosed with Osteogenesis Imperfecta. Emma shares their journey to Mya’s diagnosis and how Osteogenesis Imperfecta has affected their life.

“I wanted to share my story of having a baby with Osteogenesis Imperfecta (also known as OI), which all began on the 15th of January 2019.

I’ll always remember the excitement that we had going into the scan. We had found out at 16 weeks that we were expecting a little girl, so we were excited for this to be definitely confirmed as I still did not believe it – my own princess!

The sonographer was female but I remember very little about how she looked. I simply remember her turning the screen away whilst she did her checks and then saying, “I just need a second opinion,” before she left the room. I remember that she looked flustered.

She returned with an appointment to see the consultant on the following Monday. She told us that our little girl had shortened legs with both legs measuring different sizes and that this could be a hard marker for many conditions, including dwarfism and a skeletal dysplasia.

We left the hospital in a daze, trying to reassure each other, but both secretly anxious. We spoke about this time later on and reflected on how we were both concerned about evoking anxiety in each other, so we tried to play down our own worries.

On the Monday, we were scared. We were also ready to know what we were facing and ready to fight for our girl, no matter what.

The doctor was lovely and made us feel at ease. She told us straight that we were likely looking at a skeletal dysplasia and, at every future scan, our little girl continued to measure three to four weeks behind in most of her measurements.

We refused amniocentesis as we simply did not think it would be useful, as we had made our choice.

On the 12th of February, we attended fetal medicine at Leeds Children’s Hospital. We were told Mya had a fractured femur and we were finally formally introduced to Osteogenesis Imperfecta.

We couldn’t take away the diagnosis but we could certainly control how we reacted to it.

I decided to share about Mya’s condition on social media and searched for every piece of information that I could find on OI. I joined groups and spoke to parents who were also aware of OI. I wanted understanding and kinship and spoke to some amazing people. I heard their stories and saw their beautiful warriors and I decided that I would use social media as a platform to keep a kind of journal, to help myself and others. There are limited resources online and I decided that Mya’s narrative would be shared. I wanted to give others the opportunity to share too, and to build connections with people. I wanted to support parents going through the same thing and to offer a place to find “real” information, including the reality of having a baby with OI, and somewhere far away from the poisonous medical papers that search engines provide. From this, our Facebook page, “Osteogenesis Imperfecta – Cushioned in love”, was officially born.

We continued to see our consultant as my pregnancy progressed. Every scan showed bowing and, at every scan, I feared more fractures. I was anxious but grew stronger.

Towards the end of the pregnancy, I felt ready to embrace OI and yearned for my baby girl. I also recognised a change in myself. I am an assertive and extrovert person, but I felt a calmness come over me.

It was arranged that Mya would be born in my 37th week of pregnancy on the 13th of May 2020 and I was to be at the hospital for 7:30am. We didn’t know what to expect. We didn’t know how she would look nor if she would struggle during the birth. We didn’t know if she would break on delivery and we didn’t know how we would deal with it all, yet we knew that we would.

As we walked into theatre, the neonatal care team were there to receive her. I knew that she’d be taken immediately after birth, as I had been told that she would be taken straight to NICU for a full skeletal assessment and to be supported there if there was a clinical need. I knew that I would be unable to see her until I was finished in surgery and recovery and my drug induced paralysis had worn off.

When they lifted Mya from my tummy, the first thing that I remember was someone saying that she had dark hair. I felt incredibly emotional hearing her shrill cries. They took her quickly to check her airways and for Louis to cut her cord. Then they brought her to me to say hello…and goodbye. My beautiful daughter. It was a bittersweet moment. I was already yearning to be with her and felt utterly lost as I watched her being wheeled away.

She was safely delivered and was pink, feisty, and strong. Louis went with her, as we had decided that our daughter would never feel alone.

The day that Mya was born, my world changed. She inspired me with her sass and determination to prove that she could do anything and I promised her, and myself, that I would always follow her lead in regards to her OI.

That first day was truly a day of new discoveries. I spent a lot of time reflecting and preparing for the coming days but I wasn’t afraid anymore, as I had my girl, my boys, and Louis, and I was determined that whatever we were told, we would get through it as a family.

You can follow our story on my Facebook page, “Osteogenesis Imperfecta- Cushioned in Love”, here: https://www.facebook.com/oursnowflake/

Thank you so much to Emma for sharing your story. If you would like to share your story to help others coming to terms with their diagnosis, please email Maggie on margaret@metabolicsupportuk.org

If you would like to meet other people with your condition, please contact us on contact@metabolicsupportuk.org