Parents' Perspective of Trisomy

my daughter Phoebe was born with the condition just over 11 years ago and survived three days my wife and I always wanted a large family we have a son who's 15 now he was four at the time of Phoebe's birth and we thought that we were going to have a big bouncing baby girl that's what the photographers told us and that's what the midwives had told us but what we didn't know was that Phoebe was suffering from trisomy 18 or Edwards syndrome and we didn't actually realize that until the moment when the surgeon put the scalpel into Gina's tummy and they whipped Phoebe away because there were some conditions that were fairly evident to them at the time that they wanted to investigate further we've got the diagnosis later in the day that she had trisomy 18 but they didn't really elaborate as to what that was they didn't tell us what the complications might be just that she had a hole in her heart and a ruptured diaphragm and her intestines were in her lungs because of that and her lungs hadn't formed properly and she was having difficulty breathing and we weren't told about any of the options for surgery whether there were any options at all going forward other than the trisomy 18 meant that Phoebe's opportunity for life had diminished substantially since her birth and that was unlikely she would survive any like the same the doctors told us all about the difficult decision we would have to make but when we took her off life support and that was the only decision that we had and on midday on the third day we switched off the life support and we had a very little bit of time with Phoebe in her arms and she died there in the family room in her arms I think Gina and I would very much have liked to have had a lot more underlying information the reasons behind tracing me what causes it was at our fault what are the the medical conditions that can be addressed from her the wording used was incompatible with life and I think that that is remarkably upsetting I know it was for Gina and I because we didn't really know why it was incompatible with life the words I would have liked to have heard at the time which I understand a lot more now is about the treatment for each individual symptom rather than further syndrome so is there an option to repair the hole in her heart is there an option to repair the ruptured diaphragm different wording softer wording something that more accurately reflects the survivability rates of the Taos and Edwards and says that there may be life limiting conditions within a diagnosis because not everyone has the same aspect of offbut house or or edwards it may have a little bit or they may have a lot the information that I feel that parents and prospective parents need to have either on diagnosis or whenever they're about to have their screening test says all about the syndrome but not about the condition itself but about the the associated conditions the possible things that that might affect them going forward the things that the parents are going to have to live with should the child survive and to childhood and adulthood things like the medical interventions that are available things like how the child might fade how they might develop mentally any restrictions that there may be on their both positive and negative I think will be a good balance of information to give I think that the medical profession who deal with this on a day-to-day basis need to take away the fact that they are delivering some life-altering news and they have to deliver ideally in a compassionate and effective way parents are going to be affected by this for the rest of their lives and if they deliver it in a compassionate and clear way then everybody will win it's about it's a really happy little girl she's probably the happiest person I know and she's six and a half now and for a six and a half year old she has very delayed development and actually the most important thing is that she really loves life so she loves going to school she loves her family she loves her big brother in particular and she can now sit without support for extended periods of time she can stand with support she started to use a special potty she can make her needs and wishes known really really well she can't talk yet but we are working on communication methods that help her and she basically just it's such a happy little person that's a very important part of our lives it's Belle at the moment can't do some of the things that you would expect and almost six and a half year old to do so she can't move independently she can't walk and talk and she can't feed herself yet and she can't look after her personal care she can't get herself on and off the potty for example it's about health it's brilliant most of the time but if it's about gets a cold or is unwell then she can go downhill very quickly so typically she if she gets a cold she would end up in the hospital needing some oxygen and feeding support so life with Isabel and well we do far more because of his about than having Isabella stopped his doing and she's just a joy and yes it's hard it's not a walk in the park and the hospital admissions are hard and the worry is hard but she brings such joy such love such happiness to our family that we could never imagine a life without her

Channel: SOFT UK

Views: 78,282

Keywords: Trisomy 13, Trisomy 18, SOFT UK, Trisomy Diagnosis, Edwards' Syndrome, Patau's Syndrome, Antenatal Screening, Lived Experience, Life Limiting, Trisomy Support, Trisomy Information, Full Trisomy, SOFT UK Families, Trisomy Parents

Id: AvU-Db_xP58

Length: 6min 11sec (371 seconds)

Published: Mon Apr 06 2020