Before I write about Sebastian's preliminary results, I want to share with you a photo that means the world to me. It was taken at the hospital when I delivered Sebastian. It is our one and only family photo.
We have blurred his face because in reality we want to protect ourselves and Sebastian from strangers who come across the blog and may treat his beautiful photo without the respect he deserves.
You can see in our faces the joy and heartbreak occurring. We won't ever get another photo of all of us together. So this photo means the world to us. I often look at this photo and think about Sebastian's results, I can not do it without crying. It truly breaks my heart what Sebastian and we, as a family, have gone through.
The week that Sebastian died, we were told to contact the Genetic counsellor if we hadn’t heard from her in three weeks. So I did and we were given an appointment for Monday 21st September. We were explained that they had no answers yet, but would like to meet us and tell us where they were up to.
When we arrived we were surprised to find out that they had the preliminary autopsy results. We were not prepared to get them that day and felt a little vulnerable as we had not emotionally prepared to hear the results. However, we agreed to talk about them as there was no way we could walk out of that room without knowing what was written on that piece of paper.
The Geneticist and Genetic counsellor, were once again very supportive and sweet. We loved that they asked us about Sebastian and our time we spent with him. We loved that they remembered his name and referred to him by it. We loved that they talked about his funeral and validated that it sounded like a nice farewell. We really appreciated them acknowledging him as a little baby boy who we lost – finally professionals who cared! We would not hear them refer to him as a “fresh, small foetus” as the autopsy report described him, and we would not hear them talk about him as a medical subject, instead of a person. I know it sounds small, but this really helped us deal with the news they were about to tell us.
We talked to them about Sebastian’s leg being broken and his bone protruding the skin. They agreed that this was observed and that in fact, every bone in Sebastian’s body was broken – his legs, his arms and his ribs. We mentioned how short his limbs were compared to his body and the bowing of his arms and legs; the doctor informed us that the X-rays showed that his limbs had broken in utero multiple times and had mended in this position, so they could not tell what his original limb structure looked like. Sebastian also had no skull, all his bones lacked density (except for a small section in his spine) and his skin, which we referred to as ‘sticky’ was recognised as underdeveloped and easily broken. His organs (his intestines, gall bladder, chest wall etc.) were also incredibly fragile and were easily torn, just by touch or movements. He was very small for his gestational age.
It was hard not to cry when hearing this news, “that sounds so painful” I said with tears welling up in my eyes. The geneticist acknowledged that it does sound painful and that there is no known answer as to whether he would have felt pain. She said that there was not enough research to indicate a gestational age that a baby does feel pain; however she assured me that being inside his Mummy’s belly would have cushioned him a fair bit regardless. I pray he was not in pain. I hope with every inch of my body that he did not feel pain. No baby should ever have to feel pain, especially the pain of every bone in their body breaking with every movement.
The lethal form of Sebastian’s Skeletal Dysplasia has not been 100% agreed upon yet by the doctors. However, it is suspected that he had Type 2 Osteogenesis Imperfecta (OI) however other diagnoses are being explored. As I read about the symptoms of OI, it matches perfectly with how Sebastian presented when we saw him and the condition we were warned about previously, regardless of the name, it was these symptoms that that took his life.
The doctors said that if he survived pregnancy we wouldn’t have been able to hold him without a part of his body breaking. A cough could break a rib, a kiss could fracture a cheek bone, being dressed could break a lot more. I know it is horrible to say, but I am grateful that he never experienced that pain outside of utero, and as much as I would love to have been given the opportunity to see his eyes shimmer, or a spark of his personality, I know that is selfish. I realise that the amount of pain he would have been in if he survived would have prevented the smile I yearn to see. I don’t know why our son was given this condition, I don’t know what we did to deserve it, whatever it was, we are sorry and wish that we could take it away or bear it for him.
We were not expecting any other findings, we were happy that they were starting to determine whether OI was the suitable diagnosis for his condition. However, we were told that the autopsy and amniocentesis (which I did whilst pregnant) results had found something else. Our hearts sunk. What else could our little man have gone through? How much more suffering did he have to endure? How much more bad news could we take?
During a count of Sebastian’s chromosomes, it was found that he had a microdeletion of chromosome 15q.112. This diagnosis is not fatal, and sometimes does not affect anyone. Apparently lots of people are walking around without this chromosome, unaffected. However, it has also been found to cause other conditions – physical and/or intellectual disabilities, autism and epilepsy. So not only would our boy have lived a life with fragile bones, he may have also been subjected to seizures, a wheelchair and learning difficulties. He really had every worst possible scenario thrown at him. I am so impressed by how long he did last throughout the pregnancy. He lasted 20weeks and 2 days with all of these conditions - something that most people couldn’t even fathom to live with. He is definitely our little courageous hero.When I reflect on Sebastian’s lifeless body in the cot at the hospital, and that gorgeous smile he had across his face I can’t imagine all of these medical terms they have applied to him. He was (and still is in our minds) so perfect. We were able to look past all of the physical deformities posed on him and just see him for our precious, beautiful boy. He has taught us so much about ourselves, brought so many people together and gave us a love no one can understand. He wasn’t given a chance at life, he will never get to grow as a child, he will never get in trouble off us or be sent to a naughty corner, he will never get to experience friendship, family, love and life. But we know, as his parents that even though his short time on earth is over, we will continue his legacy and we will tell everyone about what this little strong man had been through and how he changed our lives forever.