JUNE 2004 Rebecca was born at the Barratt Maternity Home at Northampton General Hospital on 15th June 2004 at 9.24am by elective caesarean. She was born 5 weeks prematurely and weighed just 1.895kgs (4lbs 3ozs). She was 43cms long with blue eyes and blond fluffy hair. During pregnancy Rebecca diagnosed with an unusual chromosome pattern together with a small hole in the heart. It was not known what the extra bit of chromosome actually meant and the only explanation we were ever really given was that she would have development delay. Due to her known problems, Rebecca spent three weeks in special care, mainly so that we could establish her feeding as she had not been growing properly, and to investigate the extent of her heart defect. The hole in her heart was only very small and was not requiring surgery or medication at this time. JULY 2004 On 4th July 2004, we took Rebecca home for the first time. She was still only 4lbs 6ozs and only half filled her moses basket. OCTOBER 2004 In October 2004 Rebecca came down with a chest infection. I took her to the doctors and she was given some anti-biotics. After about a week or so she was still not very well. On Saturday 17th October we were due to go to a family birthday party and we noticed in the car that she had started to struggle with her breathing and was starting to turn blue. We immediately turned around and took her straight to A&E at Northampton General Hospital. She was seen immediately and had a chest x-ray where it was confirmed that Rebecca had a collapsed lung. She was taken from A&E to the High Dependency Unit on Paddington ward where doctors tried to intubate her for several hours without success until the retrieval team from Leicester Royal Infirmary arrived to transport Rebecca to their Intensive Care Unit. Whilst in the unit Rebecca had a heart scan and some concern was expressed about the pressures in her heart and this would continue to be monitored. After she was weaned off of the ventilator she was transferred over to the Glenfield Hospital which specialises in cardiac care. She was put on three lots of medication to regulate her heart. She was also put on Infatrini (a high calorie feed) as she was still very small for her age. Rebecca continued to have her regular checkups at Northampton Hospital with her paediatrician and also with a cardiac consultant, but all in all she was in very good health. Her development was delayed, but this was expected due to her chromosome disorder. MARCH/APRIL/MAY 2005 In March 2005 Rebecca was referred for an eye test as there were some concerns about her vision. It was here that it was discovered that she had cherry red spots in the back of her eyes. We were referred back to our paediatrician who said that they would need to run some tests to rule out a particular disease. We all thought that Rebecca couldn’t possibly have this rare disease and it must be related to the chromosome disorder she already had. We all had to send off blood samples for testing. A couple of weeks later we received a phone call asking us to come in for a meeting to discuss the results. Instantly I knew it was bad news, I just didn’t realise how bad it would be. Rebecca’s paediatrician told us that Rebecca had “Sandhoff Disease”. She gave us a brief description of how the disease affects children and that she would have a limited life of between three and five years. We were sent away with lots of information but I decided that I didn’t want to know too much about the disease at this point. I just wanted to enjoy what time I had left with my little girl, without searching for signs of deterioration. I just wanted to deal with things as and when they happened. Rebecca continued to be a very happy little girl and we carried on with normal family activities. She was starting to become floppy and losing her head control. We had a referral for the Child Development Centre, where we could go along for sessions in the sensory room. Whilst at the sessions she would have a session with the physiotherapist too and we referred Rebecca for a sitting frame so that she could sit unaided. JUNE 2005 We moved house on 3rd June 2005 and immediately started planning Rebecca’s first birthday party. Our emotions were very mixed at this time with the stress of our recent news and moving house! And just not knowing whether or not this would be her only birthday, so we wanted to make it a special one. She had so many cards and presents. She was spoilt rotten and she deserved to be too. Her health continued to be good with no signs of the disease showing other than her muscle weakness. OCTOBER 2005 Rebecca came down with a chest infection. We spoke to her paediatrician and took her straight onto Paddington Ward as she was granted open access. It was October 31st and earlier that day, she had been wearing her little witch’s outfit. She looked adorable. She was having difficulties taking her milk and was put on a drip to get some fluids into her. She was also given IV anti-biotics. FEBRUARY 2006 Another chest infection takes her into hospital for another couple of days. She was given regular chest physio and IV anti-biotics. This time however, she had a small oxygen requirement although within a couple of days she was gradually weaned off. MAY 2006 At the beginning of May we took our caravan on holiday to Poole in Dorset for a week. By this point Rebecca had started to have seizures. They were becoming much more frequent and more severe although she was not in any distress, she did spend the majority of the holiday post-ictal. We decided upon our return that we needed to sort out some medication for her and quickly. Her seizures came on very quickly and they were the sort that made her stop breathing. She was taken into Paddington Ward one evening when the seizures were coming literally one on top of another. She was started on her medication and this was increased steadily as and when we thought she needed it. Whilst she was having these seizures it was thought that her swallow was not safe so she had an NG tube passed and this she stayed on. Up until this point she was having bottles of milk and she loved her porridge for breakfast. Her favourites were the puddings though, especially chocolate pudding! For now the seizures were under control and after a week or so she was discharged. She was in hospital for about three weeks all together. JUNE 2006 Rebecca started to have lots of secretions and immediately we knew she was coming down with another chest infection. We took her straight into the ward to get checked out. Her oxygen saturations were in the mid 80’s so she was put on a small amount of oxygen and she was started on IV anti-biotics. She had quite a settled night but the following day she started to really struggle with her breathing. She was moved into the high dependency unit where she was put in a head box and given nebulizers. She didn’t really stabilise with this and it was decided after we had had “the talk” with the consultants that we did not want to have her ventilated, but we would try the c-pap to see if that helped her. It seemed to work for her and slowly she was weaned off but continued to need some oxygen. On 15th June, Rebecca celebrated her 2nd Birthday in hospital. We had a party for her with lots of party food. She had so many cards and lots of pretty balloons. Over the next couple of days, we managed to wean her off of the oxygen and we took her home on ward leave on the Saturday where we had a birthday party for her with lots of friends and family. We took her back in that evening, but we also managed to bring her home on the Sunday too where we just had a very relaxing chill out day. On the Monday Rebecca was referred to have a barium scan as she had been referred to have a gastostromy. About an hour after the scan, she started to have quite severe seizures again where she would hold her breath. It was so frightening to watch and not be able to do anything about. Her medication was again increased and she seemed to stabilise again so we managed to take her home after three week stay. JULY 2006 On 3rd July Rebecca’s baby brother, Adam was born by planned caesarean section. The ward had very kindly offered to look after Rebecca for us for a couple of days. As it would turn out, the day before we were due to take her in, she started to be unwell again with another chest infection. We caught it quite early on and again she was given anti-biotics and chest physio although this time she did not seem to have an oxygen requirement. On the day Adam was born, one of Rebecca’s nurses and one of the registrars wheeled Rebecca in her cot down to the maternity ward where we all spent some time together and had some photographs taken. Rebecca was not impressed with her new baby brother and didn’t even want to wake up to see him. A few days later we all managed to be discharged at the same time. We spent the next ten days at home getting used to having a newborn around again as well as having our special Rebecca to look after too. Rebecca was having bolus feeds at this time and it was a real effort to stay up until her last feed at 11.00pm. On Sunday 16th July Rebecca stopped breathing, only this time she didn’t bring herself out of it. I immediately phoned an ambulance whilst my husband tried to resuscitate her. We managed to get her breathing again but she it was really hard work for her. She was rushed in to the ward again and was put on c-pap. Her blood gasses were not at all good and we had to have “the talk” with the consultants again to specify our wishes should she not improve. Things were a lot worse this time than the ever had been before. After a few days she did come off of the c-pap but she now had a significant oxygen requirement all of the time. She was now so poorly that we moved into a private room and told our family and close friends that it would be a good idea if they would come in and say their goodbyes. We had a couple of very unsettled and extremely emotional days. Rebecca however, had no intention of going anywhere and she seemed to pick up again. AUGUST 2006 We spent the next couple of weeks in hospital until she seemed quite stable and we decided that we would take her home. We had the oxygen fitted at home and had our own sats machine so we could continuously monitor her. We had now moved onto pump feeds as she could not tolerate a full bolus feed. We made a little camp for her in our living room. It looked better equipped than the hospital. We did joke that on the way home, all we needed was a blue flashing light and we’d got our own ambulance. The first weekend at home was very settled, we all had a very relaxing couple of days and Rebecca was stable on a minimal amount of oxygen. Over the next few nights, her sats kept dropping and she was on a litre of oxygen which just didn’t seem to be enough for her, so we arranged for a higher flow condenser to be delivered. Then, she started having massive de-saturations, a couple of them she recovered from herself, but one she had, her sats were not picking up from the low 80’s with about six litres of oxygen. We rushed her straight back into hospital where they kept a close eye on her. Over the next couple of days she would keep having these big de-saturations. She was on anti-biotics again and she was starting to have lots of twitches. On the Sunday 27th, she had a particularly bad day. We could not keep her sats up atall. We tried her on just about every variety of oxygen the hospital had to offer. We had a reasonably stable night with no major de-saturations so we were happy. By lunch time she was not doing well again. We knew that she could not get better this time and we were saying our goodbyes. We spent the day alone in the room with her, we had cuddles and talked about all her family that loved her very much, and we took some more photographs. At 10.45pm Rebecca passed away. It was very peaceful and calm, how we had always hoped it would be for her. She was no longer suffering and was at peace. We love you always. Mummy, Daddy & Adam Xxx