BiographyIsla was born in May 2007. She was born by elective c section. I had a very healthy pregnancy with Isla, all scans and hospital appointments indicated that we were having a healthy baby. A brother or sister for Isla's siblings Emma and John. We didn't find out at the scans if we were having a girl or a boy so on the Wednesday morning when we left for the hospital we were all really excited as we knew that in a few hours all would be revealed.
Isla was born at 10.25am, weighing 5lbs4 which was a lot lighter than the 8lbs7 and 8lbs12 that her siblings weighed. I can remember the joy of being told that we has a daughter and I managed to get a quick glimpse of our gorgeous daughter as the doctor held her over the sheet for my husband and myself to see. For those couple of minutes it was as if time stood still. I couldn't believe how lucky we were to be blessed with another child. However our happiness soon turned to fear as it became clear that something was wrong with our baby girl. There was a lot of quiet talking amongst the medical staff and soon Isla was whisked away to the special care baby unit.
The next few days were a complete blur. The doctor's couldn't tell us what was wrong with Isla. When my husband and I held Isla we both thought that she was just beautiful and looked perfect. We asked the doctor's why they thought that that there was something wrong and they told us that Isla's hands and arms were very tightly clenched, a heart shape birth mark on her forehead and a high roof pallet in her mouth all indicated that something wasn't right. They did several tests on what they thought Isla may have but they all came back negative, so for now we had no diagnosis for Isla We were told that we should treat her as her own person and take each day as it comes. We were told that Isla would stay in special care until the doctor's and ourselves felt confident that we could care for all her needs at home. We were told to take her home and love her.
During Isla's stay in special care it became clear very quickly that Isla couldn't feed, a nasal gastric tube was put in place and her feeds began. Over the next couple of days we were given the news that both Isla's arms were dislocated at the radio heads and that there was nothing they could do to fix them. We were devastated, the thought of our tiny girl being in any pain horrified us but we were assured that she was in no pain. Two days later we then found out that Isla's right hip was dislocated too. However doctors seemed quite positive that it could be fixed back in place. Isla was given a pelvic harness to wear for 8 weeks, unfortunately it didn't work but there was still hope. Isla was to have her hip in plaster. It took 5 people to do it because she was so tiny. 12 weeks later and the news we hoped for IT HAD WORKED!!☺
Over the next 7 months Isla spent most of it in hospital. She had feeding difficulties, she wouldn't gain much weight and any weight that she did gain she would loose it again with each infection she had. She had to take lots of different medicines. They were given from 6am right through to 2am every 2 hours.
Isla got lots of help and support from a range of pediatric specialists, Consultants, occupational therapists who made splints for her hands and legs, physio, optometrist, dieticians and the wonderful community nurses who came to the house. They helped myself and husband Barry so much especially in the early years. Even now their guidance and support is always at hand.
At the age of 7 months, Isla had been in hospital due to an infection, during this time she got really sick and we were told to prepare ourselves. Four days before Christmas, family and friends came to say their goodbyes to Isla. Isla spent her first Christmas in hospital and shortly after that we made the decision to take her to the children's hospice. That way we could spend Isla's last days as a family together with her brother and sister too.
From the minute we arrived we were all made extremely welcome and although my heart was breaking it felt as though I could breathe again. After a few days I remember one of the staff telling me that they had children come to the hospice for end of care life but had in fact became well enough to go home again. At first I thought she must have said something else but over the next couple of days different staff were telling me the same thing. Barry and I sat there that night holding Isla, we were both thinking the same thing......what if? Could Isla be strong enough and pull through?......Well in true Isla style over the next few weeks she started to stabilise and slowly but surely she started to gain strength again. She was still a poor little soul but two weeks later we got to take our girl home again. We still have stays in the hospice but they are for respite and making special memories.
Isla was given her diagnosis of Bohring Opitz syndrome when she was 7 months old. At that time we were told that she was only the 13th known case in the world. We were told that most of the children died in infancy and died before 6 months of age and the others before the age of one year old. We decided not to read all the information as it was too upsetting. Instead we decided that Isla would guide us, after all we already knew she was a little fighter.
We were told when Isla was two weeks old to take her home and just give her all our love, at 7 and a half months doctor's told us that they couldn't medically understand how Isla was still alive and again, we got to take our beautiful girl back home. There has been lots of difficult times, plenty of worrying and many tears shed throughout the year. She still attends hospital for outpatient appointments.
Isla has taught us so much, she is our star - our gorgeous girl. Isla has come through so much and still always has the biggest smile ever. Her older sister Emma and older brother John along with little brother Cory just absolutely dote on her. She is loved by everyone who meets her.
I can't believe I'm saying this but our baby girl turns 10 this year.💜
Thank you for reading Isla's story x
Bohring Opitz syndrome is an extremely rare genetic syndrome. Roughly to date there are less than 60 cases in the world. The leading cause of death is respiratory infections. Children with BOS have feeding difficulties, sleep apnea, developmental delay, wilm's tumors, silent aspiration, and the list goes on. If you would like to find out more about Bohring opitz syndrome please visit Bohring opitz syndrome foundation inc and Bohring opitz syndrome support.
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