Our darling Jacob bear was born at 9.30am on the 6th December 2010. He was born by c-section as he was breech. The Drs tried to turn him around but he wasn't budging.
When he was handed to us we were overwhelmed by love. He was perfect. In recovery we tried to get him to breast feed but he wouldn't. This carried on all day and at 10pm his blood sugars dropped to a level where he was taken to SCBU. He was fed by a NG tube. He still was not keen on feeding but he did start taking food but never really cried for it. A week later he was sent home.
He continued to feed and gain weight but he never took that well to bottle feeding. It took him ages and when other babies were guzzling 8 oz he was taking ages to take 4or 5.
At his 6 week check the Dr was concerned when he was not smiling. But on inspection of his eyes he thought he had found the answer. Jacob had no red reflex in his left eye. We saw a consultant, and at 8 weeks he was diagnosed with a unilateral cataract in his left eye. I remember asking how he got it. I was told that as it was unilateral it wouldn't be genetic. He was scheduled for surgery on the 1st March 2011. Whilst we were waiting for the operation, he was also diagnosed with mild hearing loss in both ears. I asked if it was related to his eyes, but everyone said no, it's just an unfortunate coincidence.
We started going to a postnatal group when he was about 8 weeks. I was emotional due to pending operation, but I was really upset as I looked at all the other babies lying on the floor kicking and trying to play and grab. I suddenly realised Jacob was different. He didn't move as much, he hated lying on the floor and he wouldn't play and was far sleepier than the other babies. This feeling continued, and after his operation things appeared worse as his feeding was awful. He would refuse one or two feeds everyday. He could only stay awake for an hour or so at a time. We had to patch his good eye 6 hours a day to get his poorly one to work but it was so difficult as some days he was not awake long enough. I cried in front of professionals but they all said the same, he will get there in his own time, he has had a hard start, you are a first time mum, you are bound to worry.
We weened Jacob at 4 and a half months, and to be honest he took to food well. He ate very slowly but loved food. In fact Bob has a video of him making noises as if to say give me more. A month before he died he was still eating 1 and a half weetabix for breakfast! He did try to start to feed himself and loved holding his spoon but unfortunately he never quite got finger food.
At 7 months we tackled the professionals again. He wasn't sitting, he wasn't rolling he was still not really grasping toys like his friends. This time, although they still felt sure he was OK, they referred us to the early intervention team. We booked appointments with paediatricians and a physiotherapist in September.
At 8 months we went on holiday to Devon. We watched him that holiday and thought, maybe he is getting there. He was sitting well in his high chair, he was alert and smiled more than I had seen before. We came home and I felt positive, with the progress he was making alone and with the extra support we were due to get, we felt sure things would be OK.
Around the 10th September, Jacob appeared off colour. He got really sleepy, and started to stop eating as much. He seemed withdrawn. I took him to the Dr but he said it was probably a cold and to talk to the paediatrician about my worries when we saw them on the 22nd. On the 18th he started bringing his legs up to his belly, I thought he had wind. On the 19th he once or twice looked like he was straining for a poo. Then on the 20th September 2011 Bob recognised that something was not right and said he thought he was having some kind of seizure. We took him to the Dr who told us to bring him back if it happened again. It did and we took him straight to A & E. He had 4 or 5 that evening. We were admitted into hospital that night.
An EEG showed chaotic brain activity and they started treating Jacob for epilepsy. They did blood tests too. They all came back normal but with his other problems and developmental delay the Dr's called in the genetic team as they thought there maybe an underlying condition. We went home scared, confused and devastated 10 days later.
Jacob was seizing up to 16 times during the day and night for up to 20 minutes at a time. Lots of different types of medication were tried but nothing worked. The Dr's felt it could be infantile spasms and even tried high dose steroids. They seemed to work for a bit, my little boy who had been all but silenced by his seizures started laughing again. However as soon as the dose was reduced he regressed again.
All the genetic test were coming back negative.
In January his seizures took a turn for the worse and were going over 20 minutes. The Dr's talked about trying the Ketogenic diet. They then started talking to us about Jacob's future. They felt things were not looking good and the words Mitochondrial Disease were first mentioned. We still tried to remain positive. After all his results were all negative, and we felt sure that was a good sign. The medical team decided to do another MRI, skin and muscle biopsy's and a lumbar puncture.
At the end of February we were called to see the Dr. They showed us his MRI. It showed large lesions of dead brain tissue and that his brain stem was largely fluid. The words Leigh's diseases and Alper's were then said. We felt like our world had imploded. The most precious thing in our life was dying and there was nothing we could do to help. Our beautiful son was going to leave this world before us both, that wasn't the way it should be. Worst still was that when looking on line we could see we had little time left. I felt like someone had stabbed me in my heart. We were told that the other test results were still not back and they would give a better idea of which disease it was. We went home but told very few people, we felt we needed all the results first.
On the 17th March Jacob woke up with a temperature. We took him to A&E as he wouldn't take his medication. We ended up being admitted with a chest infection. He seemed to be getting better but was still very sleepy. On the 20th they talked about us going home. At 10pm that night Jacob stopped breathing and we were told he needed to go to intensive care. They told us he may not make it through the night. He did. The next day we were told he may not make it home. That they felt sure it was Leigh's and most children die this way . We cried a lot. We just couldn't imagine how we could go on without him. We wanted to die instead. People visited and cried. When we were alone I begged him to let me see his eyes again and let me take him home. We got him christened in PICU.
By the Sunday things were improving. He was breathing for Himself. The tube was taken out on the 27th a week after it went in. We went back to the ward on the 29th and home on the 2nd April, my little brave boy had listened to me and decided that he wanted to come home.
The Doctors asked us what we wanted to do if it happened again. The question no parent should ever have to hear. We decided not to intubate again. PICU was not a place we wanted my little bear to have to go again.
We went home to try to live our life the best we could. We visited a local hospice and arranged to go there for a weekend visit after our family holiday the following week. Bob my husband took a couple of months off work.
We started doing things from Jacob's list, which was a list of things we wanted him to do before he died. He had some pizza, he had his feet measured and shoes fitted. He had some cool trainers. He slept in a big boy bed with a pillow and duvet. He went on the cliff railway in Torquay and tried beer in the pub with his Dad and big brother Josh. He saw lots of his family. Most importantly we got to kiss his perfect lips and look into his beautiful eyes. The last thing the PICU consultant said to us was to go and enjoy our summer. We really thought we'd have one more summer.
On the 16th of April, my Birthday, we went to Center Parcs courtesy of The Lily Foundation. Jacob had the start of a cold so I started him on some antibiotics. That evening he had a terrible seizure. I held him close to me as the rest of the restaurant ate their food oblivious to my poor little boy. I remember feeling so alone. We put him to bed that night and he needed a lot of suction. In the morning on the 17th he seemed ok and we gave him his breakfast via his Ng tube. He was then sick. He started to choke. My husbands quick reactions meant he cleared his airway and saved his life and by the time the ambulance had arrived he seemed ok. We were taken to hospital and an X-ray showed he has aspirated some of the sick and he was needing oxygen.
On the 19th we were told Jacobs chest was clear he had no infection at all but despite this his breathing was laboured and he was needing more oxygen. The Leigh's had reached the part of his brain that told him to breathe and he was forgetting how to. I told my mum to come home from her holiday in Jersey. Deep down I knew he was saying goodbye.
I woke up the next morning and had an overwhelming urge to get into bed with him. At 1130 am on the 20th April 2012, 501 days after he came into our lives, our beautiful Jacob bear died in my arms very peacefully whilst his Daddy held his hand in a room full of love.
We drove him to the EACH hospice in Milton and he was put in his own room with his own duvet and pillows and teddies. We stayed at the hospice too with him. Many people saw him and many people held him and said goodbye. My 10 year old nephew asked if he could get into bed with him, he did and I read them both a story.
He stayed there till his funeral on the 30th April. It was the saddest most beautiful day of my life. 200 or more people came to say goodbye to my special boy. And for the first day in weeks the sun shone. At the crematorium I read him a poem That I read him every night before he went to sleep:
Jacob bear its time for bed
You must do as daddy says
Go and put your jarmies on
As daddy sings another song
Jacob bear its time for bed
You must do as Daddy says
Close your eyes without a care
Because mummy and daddy love their sleepy bear
We miss him so much, but know in his short life he made such a difference and we are so proud to be his mummy and daddy. I know one day we will hold him again, but until then our hearts will always ache and have a Jacob shaped holes in them.
The Lily Foundation helped us in more ways than I could have imagined. We have amazing memories of our trip to Center Parcs, Liz has been a source of information, support and also a link to other Mito Angel mummy's who I am not sure I would be where I am today without them. Please support them to help children and parents like us and one day find a cure to this devastating disease.
Claire, Bob and Angel Jacob Bear xxxxxxxxx