Sue, David and Abigail

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

Our daughter, Abigail, was diagnosed with SMA Type I in November 1997, a few days before she was 4 months old. We already had a son, James, who was 2 years old at that time. Sadly, Abigail died in January 1998. We have since had another child, Alice, who arrived in November 1998. We had pre-natal testing, which proved to be clear.

Three Weeks Before Diagnosis

Abigail appeared to be a healthy contented baby up to the age of six weeks, when there was a dramatic and unexplained weight loss. I had been breast-feeding and though Abigail fed little and often (unlike my son), I felt sure that she would settle into her own routine when she was ready. Up until the weight loss occurred, she had progressed normally and started smiling at five weeks.

My health visitor advised me to start mixed feeding (breast and bottle), and Abigail's weight was recorded every two days. Although no further weight loss occurred, the gain was extremely slow. It was at this stage (the six-week period) that I noticed Abigail's non-existent head control and it was possible that she didn't seem to be moving her legs quite as much.

Although I had arranged a doctor's appointment for the eight-week check, I decided to see the doctor at seven weeks, when I really started to feel uneasy with Abigail's general lack of strength. The GP confirmed my fears that all was not right and made an appointment with a paediatrician the following week.

After the paediatrician examined Abigail she ordered urgent tests to be conducted that day.
These consisted of:

Brain scan
Blood tests
Nerve conduction tests (the following day)

We waited a further two weeks to see a paediatric neurologist, during which, Abigail had to be admitted into hospital twice with upper respiratory tract infections and because of her poor feeding. Following hospital clearance, Abigail was openly admitted to the ward, which didn't require us to see a GP beforehand. We just went directly to the ward with her. This made us realise that something could be seriously wrong with Abigail's health. Up until this time, we really believed that Abigail was just a slow starter, and would suddenly pick up in leaps and bounds.

The Diagnosis

This, of course, proved wrong. On 27th November, 1997, following further blood test results, we were told that Abigail had Spinal Muscular Atrophy Type I and would be unlikely to survive beyond her second birthday - more realistically, beyond her first year. Our world came crashing down, but we knew we had to be strong and ensure that our precious time together was not wasted on self-pity. Of course, we were in a terrible state for a couple of weeks, and it took all of our strength to face this dilemma. Our consolation at this time was our son James, who proved tot be a pillar of strength.

Games and Toys

Abigail enjoyed all things musical, especially if the toy had lights. We stripped the play gym of all the usual hanging toys (these proved to be too heavy for Abigail to manipulate) and replaced them with silk scarves, tinsel and hanging luminous lights that Dave obtained from work - anything with different textures that would encourage Abigail to touch them. Without doubt though, her biggest joy was people, especially her big brother James! We would play games such as 'round and round the garden' 'pat-a-cake' and 'this little piggy', which would get squeals of delight and give us great pleasure. Another very useful improvised toy was the cot mobile, which we hung from the living room ceiling with a cup hook and string. Placing Abigail in a reclining supported position on the sofa, we would wind up the mobile, which she could watch for ages because the string would wind up too and keep the mobile going for ages.

Physiotherapy

This played a major role in caring for Abigail. After diagnosis, we would conduct physio at least twice daily, or whenever she needed it. This involved laying Abigail across our thighs on a firm pillow, with her head slightly lower and alternating from sides and back. We found patting on her sides, just under her arms most beneficial and it seemed to clear her airways more successfully, although not always and enjoyable experience every time for Abigail. We would sing songs and play nursery rhyme tapes, or simply talk to her. I felt that when Abigail was a little distressed about secretions building up, simply hearing a reassuring and familiar voice would soothe her somewhat.

Oral Suctioning

This was our last resort if physio failed to remove the secretions. Oral suctioning was all that was necessary at first, but gradually we needed to introduce nasal suctioning. Not a pleasant experience for any of us, but the sheer look of relief on Abigail's face was immediately evident as her airways cleared and the subsequent comfort she felt was worth the initial unpleasantness. Suctioning started at four months.

Oxygen Machines

When Abigail became five months old, we needed a supply of oxygen at home. We had a small portable cylinder for the suction machine when we went on our travels, and a large cylinder for home use.

Feeding Times, Tubes and Pumps

Abigail's feeding began to deteriorate rapidly when she was two months old, although she was not a regular feeder at the best of times. We assumed that she was just being picky, when feeding little and often. After diagnosis, Abigail was given a milk thickener to assist with the consumption of her feeds. Abigail really began to struggle with normal fluids, because her swallowing reflexes had deteriorated and she could only swallow if the milk had a thicker consistency. Again, not great amounts - sometimes she could manage around three ounces, but more often only two ounces at a time. This small amount was very time consuming - at least one hour on good feeds. You cannot rush an SMA child's feeding, it has to be very slow and deliberate. If the child were to start choking, it could not instinctively cough, because there is no reflex.

As time progressed, this type of feeding ceased and we opted for a nasal tube to be fitted, which saved Abigail a great deal of stress at feeding times, and she could be given the correct amount of feed to satiate her hunger. With hindsight, we could have possibly started this type of feeding earlier and saved everyone the worry and stress at feeding times. This type of feeding proved very beneficial to us all, as we didn't stay up all night feeding and suctioning. We were able to feed Abigail at the correct times and therefore, didn't even have to disturb her sleep.

Antibiotics and Other Drugs Used

Immediately after diagnosis the Consultant advised on a broad-spectrum antibiotic, which would be beneficial for Abigail help fight off all the usual winter ailments. During hospital admissions when Abigail was particularly poorly, she would have intravenous antibiotics.

Hospitals

Our experience with hospitals was very positive. The care and support that we were shown was truly admirable. What we would say though, is that it is very important to you, as parents, to inform the doctors and nurses of any decisions that you have made for feeding and resuscitation. On a more daily basis, it is very important that you yourselves educate the staff who may care for your child on SMA. Chances are that they have never even heard of the condition, let alone its complications. For example, Sue and I operated a twelve-hour watch system with our daughter, which meant that one of us was always in attendance next to her bed - twenty-four hours a day; except on one occasion, when we had to leave the hospital together for two hours. On our return, we found Abigail was quite distressed, and even though we had informed the staff that we were going to be absent for a short while, they didn't physically look at Abigail, because she was not crying and they had assumed that everything was fine. In reality, Abigail's voice/cry was so weak that it was hardly audible unless you were aware of her condition. We never let that happen again.

Involving Other Children Within The Family

Our experience with having an older child, although a baby himself, was honesty about Abigail being 'very poorly', and to involve him as much as possible. James would always switch on the suction machine and fill up our container with new suction catheters. He would help with the physio sessions, either by dancing and singing for entertainment purposes, or by trying to copy our physio exercises himself.

Noticable Deficiencies At Around Three Months:

Lack of movement - more noticeable with the head and in lower limbs, which appear to be quite 'stiff'.
Lack of rigidity in the body and neck when picking up the child - coupled with lack of 'startle reflex', begins to raise doubts.
Feeding is very intermittent and stressful for the child - lots of faint coughing, to try and clear the airways.

Situation Now

We have two surviving children, neither of which have SMA. Obviously parents are nervously aware of any shortcomings with their surviving children, should there be a possibility of being Type I - II, or II - III. However, it is deemed to be very remote indeed.

Tips To Improve Quality Of Life

Enjoyment

Remove all standard toys from the play gym and replace them with extremely light materials. Use bright and beautiful things, such as fabric, balloons and Christmas tinsel.
Keep a pillow permanently downstairs for supporting the child whilst sitting or reclining on the sofa. To add to things, we placed a cup hook in the ceiling above her laying position. Attach a piece of line from the hook to a mobile (such as the one you have made from your gym) - wind up, and Hey Presto! - You have a mobile that naturally spins for a very long time, thereby giving yourself time to spare to make a cup of coffee.
Light and Sound toys of all types to stimulate your child's imagination.
Try to get out and about for nice walks, especially where the child can see and hear lots of different shapes and sounds - feeding ducks, children's play-parks, etc.

General Care - Home, Car, Walks

Home:

As with all new-borns, lots and lots of love and care are essential to the child's comfort and happiness. We found that as the illness progresses, you find that it actually causes the child some discomfort when held in the upright position. Therefore, a lot of the cuddles and love were given in a 'cradling fashion'.
Using a pillow as support we would rotate the child's position from one side to the other at regular intervals to ease any static discomfort. We would also 'build' a base of cushions on the sofa and place the pillow on top. We found that this gave a very comfortable, yet safe base to recline the child so she could play and watch her mobile, which she thoroughly enjoyed.
Lying next to the child on the bed, giving loving strokes and maximum eye contact proved effective at relieving any stress that may occur.
A baby bouncer type seat wasn't suitable because of the lack of support it gave. So to get around the problem of cooking meals (especially when other young children are around), we used to clear a counter and place Abigail with her cushion on the kitchen sideboard, where she could watch everything going on. She really enjoyed this!!

Cars:

We would ensure that Abigail was reclined as much as possible, by not locking down the carrying handle, therefore not restricting the seat's reclining ability. She loved journeys in the car and really seemed to be settled whenever we went anywhere. Sue would sit in the back if the journey was particularly long, otherwise James would keep her company for short trips. A ready supply of different children's tapes was available for us to sing along to at all times. The children really enjoyed this!
We would use some folded muslin to stop Abigail's head from moving side to side on such journeys. She found this comfortable because the material is soft and it kept her head upright, not lolled to one side for the journey.

Walks - pram, buggy or carrier?

Our experience was that Abigail was not comfortable in the buggy because she never got strong enough or big enough to use it, so we initially carried Abigail in a chest baby carrier, which she loved because of the contact and constant chatter that she heard. As time progressed it became evident that this was becoming uncomfortable because she was unable to maintain an upright posture, so we obtained a standard pram where she could lie on her back, and again with an improvised head support of muslin, she could see the world passing by. She really enjoyed any trips out and was really content throughout, which was lovely for us all, and James could visit his favourite parks and feed the ducks, etc...

Educating The Health Service - Staff and Doctors

It is crucial that you inform the doctors exactly what your decisions are with regard to your child. This can be the day-to-day care, or feeding and resuscitation. Also, very few people/staff will have ever come across SMA in their careers, and will be completely ignorant of how to the more basic tasks. It is important for you to be there to show them such things as:

How to correctly pick up your child (otherwise they are totally unprepared to pick up a child that cannot support itself, and the child's head will just roll back)

Make them aware that your child needs to be alternately turned onto back, front and sides at regular intervals when awake, as the inability for the child to adjust its own position can be really upsetting and stressful.

If bottle-feeding, the child has to have a specially modified thickened feed (in our case at least), and that the teats on the bottles are not the standard hospital ones. Also, clearly label any pre-prepared feeds with your child's name, so that they do not get confused with anyone else's.

Try to obtain special light toys from the hospital's physiotherapy department, and get a hospital pram for times when you can get to walk around the hospital.

If leaving your child for any length of time ensure that you always inform the nurse who is caring for your child. Be aware of shift changes, so that you are available to educate that member of staff too. The staff are always first-rate, but they too are very busy and do not always get the time to give a thorough handover brief to staff taking over the shift.

There are always a thousand and one tips, but hopefully this has given some pointers and help. We are all unique, as are our precious children. As long as we are there for them to give them soothing words and attention, and most of all - love, it will be of some comfort to you later on.

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