Sunday, 10 January 2016

Signed, sealed & delivered: Sebastian's final autopsy results.

Monday 11th January at 1pm

Children's Hospital at Westmead.

Today we met with the Geneticist and Genetic Counsellor for Sebastian's final results.
I had been so nervous all week; I couldn't eat today and had butterflies in my stomach all morning.
I hadn't cried, but I was fighting the tears back.

I said a prayer this morning and read the book about St. Gerard. I searched everywhere for some hope that we would receive good news. I wasn't sure how I would handle (or if I could) handle any more negative news and today we would find out if Sebastian inherited his skeletal dysplasia from us. We would find out if one of us killed him.. (I know that we didn't intentionally kill him, I know that we would never have known that this was going to happen - but there is so much guilt).

We sat down in the same room we sat in for all our previous meetings. The Geneticist and counsellor were once again all smiles and genuinely interested in our concerns and feelings. I told them that I was nervous.

The Geneticist confirmed they have the results and have had Sebastian's for a little while but were waiting for our DNA results too (mine had taken the slowest as it occurred over the Christmas break), in fact they only received the results last week.

The geneticist explained that Sebastian did indeed have Osteogenesis Imperfecta, a form of brittle bones disease, the worst kind that they had seen. They could not explain why his condition was so severe considering the results showed exactly what they had thought (and is shown in babies who die of the same condition), it is a little bit baffling to be honest.

Anyways, the Geneticist said to us "Baby's gene mutation was dominant. We checked your blood results and neither of you are carriers for this condition. it was random"
I became overwhelmed. I teared up and could hardly string a sentence together, "really?!" I said with tears in my eyes and a huge smile. I was so relieved as the Geneticist confirmed it was not inherited from us. In fact the gene mutation was as small as a spelling mistake, it was a 'G' when it should have been a 'T'. I can't remember what she said after that. I needed time to take it all in. I was in shock and could only keep thinking, "We didn't kill him. We didn't kill him. oh my god, we didn't kill him..."

I was lucky that the geneticist flicked through her files and I saw his X-ray, "is that his?" I asked. "Yes, it is." we looked over his X-ray and looked at his little gorgeous body; his broken bones and shortened limbs were visible, he was still perfect to me, "he is so cute" I said and the others smiled and nodded. I had to get a copy - and I did. I need to keep anything and everything that relates to him - we will never get another photo so anything that I can get my hands on is precious.

So, we did not kill our son but we are still left with the question of 'why?" - why did it have to affect our boy? Why must I have been the 1 in 4 pregnancies that end in loss. I wish our little boy was here, I wish this didn't happen to him. I miss him so much, I always will. I will still cry for him daily and still talk to his ashes. He is our first born son, the first grandchild, our little man with wings who we love so much.


  1. I just found your blog today after seeing your story on The Mighty. I am sorry for your loss of your perfect little Sebastian. After reading your profile I can answer your question...yes you are most definitely a mother, no need to question that about yourself. You are Sebatian's mother and your husband is his father ❤️

  2. Oh my heart...your story came up on my newsfeed yesterday on The Mighty page and my heart skipped a beat. As I read your story, I held my breath because I was reading our story. We had a son June 8, 1996. He lived for an hour on life support. We had been told at a 16 week ultrasound that he would have either dwarfism or achondroplasia they just could not tell us what type. His little arms and legs were 3-4 weeks behind in growth from the rest of his body. He was monitored closely with regular ultrasounds. We were continually told that they just didn't know what was going to happen when he was born...if he would live or die. At 25 weeks he stopped moving. He was still alive, but at the time they couldn't tell us why he didn't move much if at all. At 27 weeks, I was admitted to the hospital because I was having contractions. They kept me for 10 days and then sent me home on a fetal monitor. Four days after I got home I had to go back in because I was having so many contractions. At that point, I was 30 weeks pregnant but was measuring 38 weeks. They said they needed to induce labor immediately. He was born the next morning and rushed to the NICU. After monitoring, they said there was no brain activity so we made the decision that no parent should ever have to make. We were shocked and heartbroken. We had an autopsy done and the xrays revealed that he had multiple broken bones, both his lungs put together were smaller than his heart, and a host of other problems. We had genetics tests done locally and they were then sent to Cedar Sinai in California. After 6 months, they sent us a report that stated their final conclusion was that he had an unclassifiable form of lethal skeletal dysplasia. They determined that it was a mutation that had occurred at conception and probably would not happen again. It will have been 20 years this summer and sometimes it feels like it was another lifetime. We now have two great in college and one in high school. I hope you don't mind my sharing my story with you. I just felt compelled to do so as our children shared something that is so rare. And always remember that you are most definitely a mother. Thank you for sharing your story.