Gemma was born on 5 December 1998 at 6.45 pm, weighing 8 Pounds 8 Ounces. She was our much wanted first child.  She was a beautiful little girl, and people said she looked just like her Dad.

Myself and Nick were so proud of our little girl, and we were determined from the start that we would bring her up in the very best way that we could.  I read all the books that told me what I should be doing and more importantly what Gemma should be doing.  The first few months of Gemma’s life were wonderful, although they were hard – from birth Gemma had been rather ‘unsettled’ – she seemed restless and we struggled to get her to sleep.   She also had a noticeable stridor – a strange throaty noise that she made when she was in certain positions.  As we were concerned about this we took her to our GP.  He referred us to the hospital where a Junior Doctor told us that she had a ‘floppy voice box’ and that the muscles would tighten with age.  Nothing to worry about.  Other than these minor concerns Gemma developed normally.  At six weeks she began to smile and she seemed just the same as the other children at the parentcraft classes.  She had good head control, and was very responsive to all types of stimulation.  The six week check was fine and so for a few months we lived in blissful ignorance of the cruel disease that was already beginning to affect our little girl.

I returned to work full time.  The Nursery is a fantastic place and I had no worries about leaving Gemma with Tania and Jacqui, the Nursery Nurses who would look after Gemma in the Baby Room.  I felt instantly that Gemma was treated as somebody special and the stimulation and more importantly the love that she was given from day one will be memories that we will always treasure.

Gemma settled in well, but at six months of age, when the other babies began to roll over and sit up, Gemma still remained unsteady - she could sit up momentarily but you had to have the cushions ready to save her from the inevitable fall!  I expressed my concerns to Tania, Gemma’s Key Worker.  She assured me that all babies develop at different rates, but we agreed that it would do no harm to try and ‘encourage’ Gemma to do a few more things and so I was given an exercise sheet that hopefully would encourage Gemma to sit up, role over and generally be physically more ‘proactive’.  The other observation was that Gemma seemed very ‘jumpy’, as if her hearing was very sensitive.  We joked that she would have no problem passing the hearing test that she would have at her seven month check.

I think it was at that stage that I began to be concerned about Gemma’s development.  I was waiting for the next developmental milestone to be reached but somehow things just didn’t seem to be happening.  Gemma continued to do what she had always done – she had a favourite telephone rattle at Nursery that she would hold and shake if you handed it to her – but she just didn’t seem to ‘play’ with toys like the others did.  In the supermarket I would bump in to other Mums who had children of the same age, and watch their children turning, reaching for shopping and taking an interest, whilst Gemma sat passively in her pram.  I would walk home from the shops in tears with an uneasy feeling inside me.  Nick was concerned too, but he tried to keep the worries in perspective.  As everybody kept telling us – “babies develop in their own time”.

It was no surprise to me that Gemma failed her seven month check, but surprisingly it was her hearing that she failed on - she didn’t turn to the noises.  We knew she could hear - she was so jumpy, and I questioned whether she could physically turn all the way round.  Her physical development had not improved.  She was recalled four weeks later for a repeat test where we saw a different Health Visitor.  Carol was more concerned with Gemma than the previous Health Visitor, and she suggested that Gemma may have a problem with her hearing or in fact her eyesight as she didn’t seem to be properly watching and following the toys that were being offered to her.  In addition she couldn’t pick up the small pieces of paper out of Carol’s hand although she did pat them, as if playing pat a cake, which she did so often at Nursery. 

We were referred to the Child Development Centre for hearing tests, and after a number of different tests we were told that Gemma’s hearing was satisfactory. We were then referred to Doctor Thorburn, Paediatrician for further investigations, as by this time Gemma was nine months and still hadn’t progressed past the six month stage.

It was by complete coincidence that Gemma’s recall appointment came through to follow up the stridor that we had reported since birth.  On this occasion we were seen by Dr Mir, Consultant Paediatrician.  He examined her, and although he was not concerned about the stridor he immediately expressed concern about her development.  We told him that she was having hearing and eye tests (the eye test was scheduled for the following week).  He told us that he thought it was ‘something else’ affecting her brain and requested immediate blood tests.  We had no idea what this meant.  What did it mean for Gemma?  Was this something that could be treated?  I also began to panic because Gemma had been delivered by ventouse and I began to wonder whether this could have ‘damaged’ her brain in some way.  But looking back I don’t think either of us thought that it could be anything so devastating as the news we were shortly to hear. 

The following week, the appointment with Dr Thorburn confirmed Gemma’s poor development.   By now she was ten months old and we had begun to notice some small deterioration – she seemed to have stopped the ‘babbling’ noises that she once made.  Next was the eye test.  Looking back I think that the diagnosis had already been made, as the optician obviously knew what to look for.  After a momentary look in Gemma’s eyes the tests were abandoned.  It was explained to us that she thought she had seen the cause of Gemma’s problems.  When I asked, “You mean her poor eye sight?” she said “No – I mean all of her problems".  And with that we were sent home and told to wait for Dr Mir to ring.  It transpired later that the Optician had seen red dots on Gemma’s eyes, a typical indicator of Sandhoff Disease.

Five days later we were called to the hospital.  I felt sick  - I knew that it was going to be ‘bad’ news.  Nick and I had been trying to imagine the worst case scenario.  What if Gemma was never going to walk?  We could cope with that.  What if she was always going to be developmentally behind?  We could cope with that.  Nothing could have prepared us for the words that will ring in my head forever.  Gemma has an enzyme missing…called Sandhoff Disease…children like Gemma live to be between three and five….  I couldn’t take in any more.  I had heard all I wanted to know.  I thought of our beautiful little girl, tried to imagine her growing up, and I got a physical pain in my heart when I thought of losing her.  I know that that day will be the worst day of my life.  The pain remains – I’m sure it will for as long as I live.

With out going into too much detail the next few days and weeks remain a blur.  We bought a video camera and began to video Gemma doing the things that made us smile.  She had an infectious giggle that only Nick and I could instigate.  These memories are so precious although too painful at the moment.  The video will keep until we are strong enough to watch it.  Gemma’s first birthday was hard – we tried to celebrate like we knew we should but the thought that it may be her last made the day so hard to get through.  Tania and Jacqui arranged a tea party at Nursery and Gemma had a fantastic ‘hedgehog’ birthday cake.  And over the next few weeks and months we enjoyed every minute of Gemma’s life whilst being constantly aware that a number of ‘things’ were likely to happen.  We couldn’t think about these things.  We didn’t want to know what might happen to Gemma tomorrow.  We needed to concentrate on today.  Gemma remained well and although she didn’t develop any further, she didn’t deteriorate and enjoyed a further 7 months at Nursery with her friends and all the girls at Nursery who love her with all their hearts.

In May 2000, Gemma aged 17 months was rushed into A&E at Warrington Hospital after having difficulty breathing.  On arrival at hospital, she started to fit and eventually was ventilated and rushed to Intensive Care at Alder Hey Children’s Hospital.  She was ventilated for 48 hours but then began to breath for herself and slowly recover.  We were in Alder Hey for three weeks, but Gemma’s development was severely affected by the illness.  On leaving hospital Gemma had been diagnosed with severe epileptic fits.  We were told that she would have more and more fits until her brain was so damaged that it gave in.  The ‘harshness’ of this sentence was particularly hard to deal with. Gemma also lost a lot of her muscle control.  Today she cannot sit or even hold her head up.  The other main problem that arose after what doctors had diagnosed as an upper respiratory infection was that Gemma began to have difficulty breathing – she could only breath easily if sat upright and leaning slightly forward.  Her muscles had weakened so much that her tongue was falling loosely backwards, affecting her airway.

A month later we had a feeding clinic appointment.  Gemma seemed to be eating well, however on the day of the appointment she had seemed unwell.  On attending the appointment we were shocked to hear that Gemma’s coordination on swallowing seemed to be a problem.  We were taken straight to the ward were Dr Mir confirmed that Gemma was not swallowing all of her food properly and that some had been getting on her chest.  The reason she had begun to be unwell was that she had aspirated.  We were told that from that moment we should put no food or liquid into Gemma’s mouth.  I can remember that evening vividly.  I was distraught as the Nurses passed Gemma’s Nasal Gastric Tube.  My poor little girl.  Why can’t this be happening to somebody else?  I have to say that I also felt guilty that I had ‘given’ Gemma this disease, although common sense tells me that I would never have intentionally set out to make my little girl so poorly.

A week later Gemma began to become very ill and we visited the ward for a check up.  There was obvious concern for her, but we hadn’t realised just how ill she was.  Dr Mir explained that Gemma’s body might become too tired to fight this current illness, which later transpired to be Pneumonia.  We were asked to decide what action we wanted taking if Gemma’s organs began to fail.  This was obviously a very hard topic to discuss, but at that point I began to feel that Gemma was suffering and I don’t think we really had trouble in making any of our decisions. We were helped by the support and understanding shown to us by Dr Mir, Whom we trust implicitly, and for whom we have great respect. But Gemma is a fighter.  She was not going to give in that easily and the more she fought the more Nick and I became stronger and more determined to bring Gemma home with us.  And so we did, three weeks later.

That was nearly four months ago.  Today Gemma is still at home with us and whilst she has her good days and her bad days, we are loving every minute of our time together.  Gemma has now had a gastrostomy fitted, which makes life so much easier.  She is pump fed over night.  We have oxygen fitted throughout the house, but along with regular physio sessions Gemma is not completely oxygen dependant.  We also give regular suction – just the thought of this procedure terrified us to start with but now we work on the principle “Have suction, will travel!”.  We take Diazepam everywhere with us, but the fits are controlled very well by the Clonazapam that she takes.  And we now have nursing care at home – 12 hours a week when Gemma is cared for brilliantly by Sue and Gill, two wonderful nurses who seem to have taken Gemma to their hearts.

Gemma herself is not in any pain, and apart from a problem with her secretions, which has necessitated some changes in her drugs, she is completely comfortable and happy.  She doesn’t laugh often, but occasionally she erupts in to a fit of giggles.  This is the most wonderful sound to hear.  She doesn’t smile easily, but those that know her well can tell in her eyes when she is particularly happy.  She doesn’t attend Nursery full time now, but we visit often, and Gemma thoroughly enjoys the atmosphere – you can see the change in her when she hears the children playing around her.  I find it amazing that the children do not react any differently to Gemma than any other of their friends.  They just seem to know that Gemma is a ‘special’ little girl, and treat her as they would any of the children, but with a few extra kisses and hugs thrown in!  At home we have a playroom with lots of lights, as Gemma is still able to see bright lights and other bright objects.  We play music for her continuously and spend many hours reading or just talking to her.  She noticeably reacts to the voices of those friends who have visited so often and been there for us all though the most difficult times.

Today we are preparing for Gemma’s second birthday.  Whilst it will be an emotional day I think we have to be strong and make it special for Gemma who has tried so hard, and come through so much over the past few months.

Love you so much little angel.

From Mummy and Daddy xxxxxxxx