Where do I start… My pregnancy was perfect, there were no problems at all until I reached 39 weeks and Ben stopped moving as much. I didn’t have a planned visit for the midwife so I phoned the hospital who asked me to go down to be monitored. They measured my tummy and I was only measuring 36 weeks so I was smaller than I should have been. Once they looked into Ben’s heart rate it kept dipping so they decided to induce me. I was pleased because Ollie (my eldest son who doesn’t have BOS) was born early at 35 weeks so I knew everything would be ok… They set me up on a drip at 6pm that evening and I slowly started to get contractions. At 1.42am Ben finally arrived into the world weighing 5lb 9oz. Meeting my baby for the first time wasn’t at all what I was expecting; his eyes were bulging his head was a funny shape and nearly twice the length it should have been… I was in shock… Where was my perfect newborn baby? I was assured by the nurses that everything was ok, he was just born quickly and that it would all go down. Once my family had gone to give me some rest I was left to hold my baby wondering what had happened, what had gone wrong and how long it would take for him to look normal?? The next day they took Ben for a heart scan as they thought he may have a heart murmur. I waiting behind as family were arriving I said I’d meet them in the scan room… When I arrived there were 5 or 6 Dr’s standing around my baby. I knew something wasn’t right. I went in and one of the Dr’s explained to me that Ben’s heart was fine… I was so relieved… But… He had a condition called Craniosynostosis! A fusion of the bones in his scull… I went numb, the Dr explained that he would need surgery on his head in a hospital in Oxford (a 3 hour drive away) to open the bones and re-fuse them into the correct shape… I sat on the chair and cried my eyes out, I felt like my world ended… my poor baby he was so small how would he cope. Ben was referred to a hospital as it was something they said could wait till he was bigger. We took Ben home a day later and tried to enjoy our new bundle. It came apparent with a few of Ben’s characteristics that something still wasn’t right. Ben had appointments flooding in once we got home hearing tests as he failed his newborn test, hip scans as they thought they may be shallow and geneticists! We met with the geneticists who took photos of Ben and blood for a Microarray test to see if there was a syndrome attached… This came back clear.
By the age of 2 months Ben had been diagnosed with Metopic Craniosynostosis, Dysmorphic facial features, overlapping fingers, failure to thrive, tongue tie and hearing concerns… Every time I got another letter there seemed to be more and more it felt never ending. Ben was referred to the feeding clinic at 2 months old due to him not gaining weight. At around 2 and a half months old a geneticist from Oxford came forward after seeing Ben in the Craniosynostosis clinic a month before and questioned Bohring-Opitz Syndrome. All of the characteristics fit, there were a few he didn’t have so I clung onto that as I was hoping it wasn’t BOS. I looked on the Internet and couldn’t find much other than it being life threatening. I found the Facebook page and messaged Sünne a brief message asking what life was like as my son was being tested for the same syndrome her son had. Testing was sent off and 8 weeks later we had a call from the geneticist as results were in… I went with my mum as my partner had to work… My worst fears were confirmed. Ben has Bohring-Opitz Syndrome. For the second time around I was devastated. My world ended after everything we’d been through the last 5 months it couldn’t get any worse. At 4 months Ben had a nasogastric tube fitted to help with his weight gain. This was then changed when he was around 9 months to a PEG for long term feeding – this was Ben’s first surgery – taking him down and knowing the risks of the anaesthetic was the hardest thing I’ve ever had to do. I knew that the PEG insertion was going to make his life so much better and he would be able to feed easier – but it didn’t make it any easier knowing there was a possibility it was all going to come to an end if he was unable to breath for himself after the anaesthetic. I stayed in the hospital while he was in surgery and as soon as he was out I was back in the room with him – they had bought him round and he was awake – in fact he was cooing with the nurses and flirting like my little monkey that he is. Ben could only take small amounts from a bottle beforehand or he was sick so the tube allowed him to slowly gain weight, always still staying under the -0.4% centile.
Ben suffers with chest problems and colds and coughs. He was first admitted to hospital when he was 4 and a half months old – he was struggling to breath and was being sick a lot – I took him to A&E and was told he had Bronchilitis – I stayed with Ben for the full 9 days he was in hospital – it was so hard sitting there watching my poor baby laying there lifeless and not being able to help him – 4 days into our stay Ben was at his worst – the Drs came to do the rounds with the plan for the day and they informed me that if he didn’t pick up and start to get any better – he was in an oxygen tent at this stage – that they would have to ventilate him, but if they did there would be a very slim chance that he would come off the ventilator – I didn’t register at the time what the Dr was saying – I was tired, I hadn’t slept for 4 days – it wasn’t until Ben was better and we were at home that my mum asked me if I understood what the Dr had said – she explained how close we were to losing him. Luckily Ben started to slowly recover and 5 days later we were on our way home with extra medicines and inhalers – but he has survived it and was coming home with us. Ben was admitted a second time this time for 7 days in Dec 2014 – he recovered quicker this time but it was the same reason –Bronchilitis.
Ben is on several medications – he has Ranitidine and Domperidone for his sickness, Senna for his constipation and between the months of September and March he is on Antibiotics long term to help stop him getting a cold and ending up in hospital in the winter months.
As Ben got older we were referred to various people… physiotherapy, speech and language therapy, occupational therapy, visual – where he was given corrective glasses, hearing – where he was given hearing aids. Ben is followed up by the craniofacial team every 6 months where he has CT scans to check the growth space in his scull for his brain – this will determine when they will need to operate. The CT scan in itself is a worry as it has to be done under sedation which is another risk due to his chest. He is always booked an intensive care bed for recovery as he tends to struggle with coming round. Ben will eventually need surgery but at the moment he is too small and the risk of anaesthetic is too high so they monitor him as to when surgery will be needed. Ben is also monitored every 4 months with a kidney scan for Wilmes tumours and will be until he is 7 years old.
Bens current list of diagnosis are:
- Craniosynostosis – operation pending at some point when Ben’s surgeon decides the time is right
- Growth retardation – Ben is fed via a tube with high calorie milk 4 times a day with a pump and currently weighs 17lb 1oz at 2 years 8 months
- High Myopia – Ben wears glasses full time to correct his severe short-sightedness and astigmatism
- Conductive hearing loss – Ben is currently learning to tolerate his hearing aids to help with his hearing – eventually they will insert Grommets but only when he is in surgery for something else – as again the anaesthetic risk is too high
- Scoliosis – Ben has scoliosis – curve of the spine – he in under physio daily to help keep it moving and he also wears a Lycra suit to help with his posture and muscle tone – Ben also wears splints on his hands at night to help with the posture of this hands and wrists and on his feet in the day to help with the way he holds his ankles.
- Sleep Apnoea – Ben is currently going through several sleep studies to officially diagnose sleep apnoea – he currently dips in heart rate and oxygen levels 9 times every hour throughout the night. He sleeps on a mat that alarms when he stops breathing
- Development delay – as explained below, Ben is slowly getting there learning new things all the time – small things but learning never the less.
Ben is now 2 years 8 months (11.8.12). Ben is severely delayed, he is at the developmental age of a 3-6 month old child; he can hold his head for short periods but gets tired really quickly. He can hold and lift toys. He smiles and laughs; he can roll and now has a standing frame where he is putting weight on his legs. Ben loves spending time at our local hospice – he loves painting with his hands, listening to songs and singing, the sensory room – which we have had to duplicate at home for him as he loves it so much – he also attends the hospice on a 6 weekly rota for hydrotherapy where we can give him a good stretch of all his muscles. Ben now has a large amount of home equipment to help with day to day activities which include a P-POD which is a relaxing chair, a Bee Chair which is a working chair, a standing frame, a physio wedge to help with his head support and a bath lift to help us lower him in and out of the bath. Overall he is doing pretty well. Dr’s told me he wouldn’t make his 2nd birthday and were now looking forward to celebrating his 3rd birthday in August and we have recently started paperwork with his key worker to enrol him into a special needs school which he should start in July this year.
One thing I really struggled with to start with was people staring and looking at Ben because he looked different – at first I kept quiet then as he got older I started to confront people – now I let it go over my head – he is special and that’s all that matters! 🙂
Ben may not be a “normal” child and he may come with a million and one problems and I’m sure many more to come – but he is my little boy and I wouldn’t change him for the world (I’d make his life easier if I could). I have learnt that Ben will do things when he is ready; it may be a little later than a normal child but he will get there in the end. Ben has an older brother Ollie who is about to turn 5 and he is amazing with Ben he is caring and very loving towards him and I’m sure he will always be there supporting Ben along with me and his dad and the rest of the family in whatever he can or can’t do.