Jane, Trevor and Alice

This page is second of the set of Personal Stories of Type I babies.

Three Weeks Before Diagnosis

Our little girl, Alice Elizabeth, was born in February 1997. For the first two months everything seemed perfect. She was very healthy and happy, breast-feeding well and keeping to her 'line' on the weight chart. My only concern was that she didn't seem to be moving as much as she should have been - certainly not as my friends' babies, but as she was feeding better and smiling more than them, I just thought she would catch up. She also had an extremely quiet cry. My mother was the only one who voiced any concern, but I'm afraid I never took any notice of her, and labelled her a neurotic grandmother! Trevor's mother also thought that there was something wrong, but she didn't tell us until after the diagnosis.

Looking back, I can hardly believe that we didn't suspect sooner, especially as I'm a nurse, and I used to be a midwife. I suppose that I just wanted so much to believe that everything was all right. I did mention to our doctors and health visitors that I was a bit concerned about her lack of movement, but they just reassured me that she was fine. I'm glad that they did miss Alice's condition, because we did so many things which we could never have dared to do had we known - such as going swimming and going to see three sets of very dear friends in Malawi.

At two months Alice's weight gain suddenly slowed right down. I remember getting quite irate with one of the poor health visitors at our local practice. I was absolutely convinced that the charts were all wrong because of the prevalence of bottle-feeding. I kept telling myself that her weight would pick up when she started solids, but by the time we came back from our trip to Malawi, at four and a half months, her weight was still poor. We saw one of the GPs in the practice who had not met Alice before. He happened to have a baby at home of roughly the same age, so the difference between Alice and his baby was really marked. As he was talking, it was suddenly as if I was looking at Alice for the first time, as a nurse rather than as her mother. I could see how small and sunken her little chest looked, how shallow her breathing, and how floppy her neck was, and I realised that there was something seriously wrong. We were then referred to our local hospital, Mayday in Croydon.

The Diagnosis

Trevor's mother, Joyce, went with me to Mayday to see the consultant paediatrician. She told me all of the problems, which might be the root cause of Alice's 'failure to thrive', and lack of movement, ending with the worst possible reason - a dysfunction of the spinal nerves. I remember Joyce feeling quite cheerful afterwards, thinking that maybe a straightforward reason with a straightforward cure would be found; whereas I kept thinking about those spinal nerves.

Shortly afterwards Alice was admitted to Mayday for two weeks of observations and tests. Although the Consultant really wanted us to stay in the whole time, it was agreed that I could come in from nine to five with Alice. I felt much better at home in the evenings. My head wasn't spinning quite so much with thoughts about ramps into the house, wheelchairs and special schools. At this stage, I just imagined that Alice might at worst have a disability. It had still not entered my head that she might actually die.

The two weeks came to an end, and still every test was coming back negative. A very kind paediatric registrar finally confirmed that they suspected SMA Type I and told me that if the diagnosis were correct, then Alice would probably die within the year. Being a nurse, I was well aware that no doctor would say such a thing unless they were pretty certain, and I absolutely dissolved. I had been crying a bit every day, very quietly since that visit to the GP, but this was a real deluge. Trevor came to get us and we cried about it together.

The following day, we took Alice to the Atkinson Moreley Neurological Hospital to have an EMV, which made her cry louder than I had ever heard her. This practically confirmed the diagnosis, so the doctor then asked me if she could take blood from Trevor, Alice and myself to absolutely confirm SMA and to have a pattern to refer to, should we want any future babies tested for SMA during pregnancy. Both Trevor and I said that if we couldn't have Alice, then we didn't want any other babies. However, the doctor persuaded us to agree, and we all had blood taken. She had a lot of trouble taking blood from Alice, and we both felt so cruel to let Alice suffer so that we could have another baby after she died. It came as no surprise that the test results confirmed SMA Type I.

Toys and Play Activities

Like most Type I babies that I have heard of and met, Alice was always extremely entertainable. She really stared and smiled at people from an early age, and more or less manipulated them into playing with her. Once the diagnosis of SMA was made, we saw an occupational therapist, who had some wonderful ideas and we also made good use of the toys sent to us by the Jennifer Trust. The most successful of these was the lullaby light show, which Alice absolutely adored. On one magical occasion, she even sang aloud to it - at the age of seven months! She also enjoyed helium balloons, and used to pull the string suddenly, so that the balloon would bob up and down. She used to love watching peoples' faces while she did this - never the balloon itself. A mountaineering space blanket was another success, being so light. I often gave her a deep bath or filled a paddling pool with warm water. She could move so much easier. Mostly though, Alice just enjoyed people. We were very fortunate to have a fairly constant stream of visitors - once Alice became too unstable to go out, and she really seemed to be in her element, as if she was holding court.

Weight and Movement

After keeping to her line for the first two months, Alice's weight gain was always poor, dropping from the 75th to the 1st centile by four months. I think that she did have some strength in her neck during the first few weeks, but as she got older she was really very floppy, just a small amount of movement in her arms and almost none in her legs. She only looked really active in deep bath water and in her paddling pool, both of which she loved.

Physiotherapy

I had previously worked in special care baby units and intensive care units, so it didn't take long to get used to doing chest percussion's and suction on Alice. It was such a relief to get a suction machine. Once Alice began tube feeding, her secretions increased so much that she seemed to be permanently flooded with them. Before doing suction, I did very vigorous physiotherapy, patting Alice's back with my cupped hand, with her lying across my knees; her head lower than her body. I can remember friends, relatives and even nurses being aghast at how strongly I hit her, but she seemed to enjoy it, and it certainly cleared her airways really well each time.

Suction Machines

It was such a relief to get a machine! As soon as Alice started being tube fed, her secretions increased so much that she seemed to be permanently flooded; and I was trying to keep them at bay by doing physiotherapy and by using a tiny mouth operated mucus extractor. We were lent one machine, which ran off the mains and another, which ran off a battery pack, in case we went out. We did try an adapter, but we had a bad experience with this while on Alice's last trip to Dorset in our camper van.

On Alice's bad days, I seemed to be an extension of the suction machine, sucking her out as many as sixty times a day. People asked me how I could bear to do it to her, but I found it easy, as I was rewarded by a huge beaming smile as soon as she could breathe properly again.

Feeding Time

Alice breast-fed very well indeed, and for her first two months her weight was normal. When she started solids at four months everything went well at first, although her weight gain had already tailed off by this time. I persisted with solids until after the diagnosis, by which time she was beginning to choke on her food. I carried on breast-feeding; though at this stage I was given some conflicting advice by the health professionals involved in Alice's care. The paediatricians at the hospital were keen to introduce tube feeding, while community level staff thought that I should do whatever made Alice feel comfortable, which I took to mean that I should just continue to breast-feed her. I held out against tube feeding for quite a while, thinking that it would be an unnecessary extra irritation for Alice, given that she was going to die anyway.

However, by the time she was five and a half months old, I agreed to her being tube fed - after all, she seemed hungry. Once the tube was in Alice seemed to be warmer and happier right away, and I was sorry that I hadn't had it inserted earlier. I found all aspects of tube feeding easy, having fed so many babies in the past. The only negative aspect of the tube was that Alice's secretions increased markedly as she became better hydrated.

At six months of age, we took Alice on a two-week camping holiday with our youth club to Rottingdean - suction machine, tube feeds and all. We had managed to get a mains supply to our camper, so it wasn't quite as basic as it sounds. Although it was one of Alice's worst periods physically, she thoroughly enjoyed being made a fuss of by the children. They actually formed a queue every day, to push Alice around the field in her pushchair. It was a bit stressful preparing her feeds and sucking Alice out in less than perfect conditions, but it was certainly worth it from her point of view. I would advise anyone to do just as much with their baby as they can, while they have the chance. Shortly after this holiday, Alice needed too much suction to be able to go out of the house and I pretty much stayed in with her for the next two months, until she died.

Antibiotics

Alice only had one chest infection at around seven months, which cleared after a course of antibiotics that we put down her tube at home. The main drug we relied on was Salbumatol, which she inhaled via a nebuliser that was lent to us. This opened up the airways, prior to chest percussion and suction. It really made a big difference to Alice - the whole procedure of clearing her chest was so much more efficient after using Salbumatol.

We did try a drug called Glycopyrolate for a short while, which was supposed to dry up Alice's secretions, but the effect wore off after a week or so, and we gave up.

Hospitals

Both Trevor and I feel that the care and attention that Alice received from our local hospital could not have been better. All of the staff that we came into contact with were also very kind and considerate towards Trevor and myself.

We were very fortunate that Alice only had to spend one night in hospital during her entire life, which followed a very nasty choking incident. This was partly because I am a nurse so I was able to look after her very well, but it was also due to the excellent support of the hospital staff, who organised the loan of all the equipment we needed without delay.

Hospices and Homecare

We were put in touch with a local group who assist families with terminally ill children, but it was difficult for them to really help us. The people who came were very kind but had no medical training, so I felt unable even to lie down in the next room while they looked after Alice. They were not supposed to do any housework or shopping, so we ended up having cups of tea while I carried on as usual. I should imagine that they would have been a godsend to a family with other children to entertain, though.

We were sent a very nice health care assistant to give us respite care. She was supposed to have Alice for one or two hours while I went out, but she never really felt confident that she was able to do chest percussion or suck Alice out properly. However, she was very nice with Alice and played really well with her, so she carried on coming to see us right up to the end.

Our local hospital has a 'children's hospital at home' service, which meant that paediatric nurses would visit us on most days, to keep us supplied with suction catheters and nasal-gastric tubes, etc. All of the nurses grew to know Alice and her needs really well, and they would let me go out for a while whenever they had a gap in their busy day.

Apart from paediatric nurses, who gave some respite care, our greatest help came from Trevor's sister, Teresa. She came every day unasked and did the shopping, cleaning, washing and also played with Alice. It seemed that there was nothing like the 'old' home help service for people in our situation.

Alice's last two weeks were a bit strange. We had been expecting her to have the standard chest infection and go rapidly downhill, but in fact, one morning she seemed to be suddenly exhausted and in some discomfort. Our GP came to see her and said that there was no evidence of an infection, but that she was possibly having heart failure. After some discussion with the paediatric nurses, she started receiving morphine through her nasal-gastric tube.

During these last two weeks, Alice went down quite quickly. After a few days, she was unable to tolerate tube feeds any more without vomiting, so we stopped feeding her, which was very hard. A couple of days before she died, she was no longer able to tolerate the small volume of morphine going into her tube, so she had to have morphine pumped into her leg.

Alice experienced constipation and urine retention as a side effect of the morphine. She had to have suppositories and intermittent catheterisation during her last days. Even throughout all of this, we had many little reminders of her 'Great Spirit.' One of the biggest and best smiles was just after I had inserted her first catheter, less than two days before she died.

At the age of eight and a half months, Alice finally died at home in bed with us.

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