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Zach's Story -- by the Hughes family

Wendy, Simon, Sophie and Zach Hughes

Zach was born in January 1996, two weeks overdue at 11.00am. As typical with MM, I was "large for dates" during the pregnancy. At birth he was a little blue and needed some oxygen, but soon recovered and after 15 minutes his APGARs* were normal. We noticed he was "different" somehow to how his elder sister was at birth. We couldn’t ever remember her being this floppy – but didn’t think more of it. Also, the midwife seemed a little concerned that he was "bubbly" – and used the mucus extractor to clear his throat several times. However, nothing was obviously abnormal at this stage and we were taken up to the postnatal ward. I had wanted to go home straight away with my beautiful new baby boy – but they decided, in view of his bubbliness, it would be advisable if we stayed overnight just to make sure all was okay.

Early that evening, my sister came to visit the new addition and being a nurse herself observed that he was looking a little "blue". I had certainly noticed he was bubbly and subconsciously thought it best to keep him upright to ease his breathing. So as not to alarm me she didn’t mention it, but spoke to a midwife on her departure soon after. They decided to keep Zach in the nursery for observation and to let me have some sleep - the Paediatrician would check him during his rounds. I asked them to wake me when Zach was being examined.

I was awoken at 3.00am the following morning – the Paediatrician had seen Zach and had decided it best that he was moved downstairs on to a ward where they could watch him more closely. I soon found out this was SCBU (Intensive/Special Care Baby Unit) – though had never heard of it before then and didn’t fully understand what it was exactly. I wheeled my darling boy down to SCBU in his glass cot, where I remember they took a polaroid of him for me to keep, removed his clothes, put him into an incubator, gave me a leaflet about the ward and suggested that, when I was ready, I got some sleep back upstairs, but could visit anytime day or night. They advised that the doctors would be around in the morning.

Feeling shocked and biting back tears, I dutifully wheeled the empty cot back upstairs to the postnatal ward. The midwives smiled sympathetically on my way back in. I returned to my bay and could hear the three other mums behind the curtains attend their restless babies . I could hold off no longer and sobbed quietly. So as not to disturb the other mums, or be discovered, I escaped to the loo to cry.

I waited until 6.00am and phoned Simon to meet me on SCBU but could hardly speak on the phone. Simon came straight over and met me on SCBU – where we faced the Paediatric Consultant and his enterage around Zach’s incubator. Zach looked just like a little rag-doll with his long limbs splayed out flat on the mattress and a recessed chest. I will never forget the brutal words spoken by the Consultant -"I am seriously concerned about this child". A kind nurse ushered us to a side room where Simon and I just held each other and cried from a depth we never knew we had.

So many things went through our minds – we weren’t sure if our darling Zach would survive. I had planned to breastfeed – even though Zach’s first attempts were futile. Should I carry on expressing milk in view of his imminent death? After a while we pulled ourselves together. We were going to be positive and strong for Zach’s sake. I decided to express milk anyway – even though Zach was still wired up to an IV saline drip for the foreseeable future. The good news was that his heartbeat was normal and he had managed to maintain reasonable oxygen saturation in air. The nurses on SCBU advised that all the parent’s beds were taken, but I was welcome to stay on the postnatal ward for as long as necessary. I couldn’t face another night hearing the other mums cooing their "normal" babies and decided to return home. It was one of the worst feelings I have experienced – it felt so "empty".

A new baby is supposed to be such a joyous occasion. And it was very difficult – all we wanted to do was retreat, yet Simon had already spoken to a few friends and relatives to let them know of Zach’s birth. It seemed so irrelevant – we were being sent cards and flowers of congratulations – but it was all so unmeaning and flat – we felt we had nothing to celebrate. My mother was brilliant keeping everything upbeat with Sophie (Zach’s big sister) and our friends – saying that Zach was a little "chesty" and had to be kept in hospital. In our hearts we knew it was something much more serious.

Day 3 was horrendous. Simon and I returned to SCBU having put Sophie to bed at home, to be informed by the nurses that Zach had had a "funny turn". He’d been resuscitated as he’d had a cynotic fit. It meant that he required more regular suctioning – it appeared to be a turn for the worse. However, to our surprise, Zach picked up a little the next day and was, on day 5, moved to a heated open cot! Wonderful! We could stroke and hold Zach much more easily – and kiss him all the time!

Day 6 he was allowed to come off the IV saline and try 5 mls of my milk – naso-gastrically fed. Eventually – this was increased and Zach went from strength to strength. Eventually he was "weaned off" the suction machine and age three weeks was discharged home from SCBU after two days of reasonable breastfeeding attempts. A glorious day! His suck was still extremely weak – but after three weeks of expressing milk it was just pouring into his mouth!! Zach was never brilliant at breastfeeding and his weight was always around the 20^th centile in his first year – well below UK national average. But I decided to persevere – despite medical advice that I should consider formula feeding. I have since learned from Zach’s current specialist hospital that if he had been under their care he would never have been allowed to breastfeed. I am grateful that I managed to breastfeed until he was 14 months.

Age 3 ½ months, Zach had his first left lung collapse and pneumonia. He was very ill for about a month with a relapse and re-admission a week after his first discharge – and it was the first time again since his birth that we feared for his life. He required a little oxygen and regular suctioning again but pulled through. On his final discharge we were given a portable suction machine by his physiotherapist. Sam, Zach’s physio became our guardian angel over the following months. She checked Zach on a weekly basis and was always available. She cut through the hospital procedure red-tape and supported us in every respect.

We still didn’t, however, have a diagnosis for Zach. All the tests performed on him in SCBU came back "normal". We were ever hopeful that it was just one of those things but at the same time it was very worrying as he may suddenly deteriorate. Age 6 months Zach had a muscle biopsy to determine his condition. Generally, he was developing pretty well. We needed to suction him several times most days but he was beginning to show signs of sitting independently for a few minutes by 7 months. He was still extremely weak in prone position and couldn’t lift his head or roll over on to his back from this position.

At age 7 months we were finally given a diagnosis of "myotubular myopathy" but the information provided was scant. Our consultant said that he would live a relatively normal life and have an average life expectancy, should walk but may not be able to run. All pretty positive – she must have had a crystal ball! We didn’t know at the time whether or not it was the X-linked type. I had bloods taken, and it took over a year for the X-linked type to be confirmed.

Age 8 months Zach had his second left lung collapse and pneumonia – and was re-admitted to hospital for 4 weeks on and off. We decided to find out more about the condition ourselves. I remember that the first leaflet we received on the condition was from the Muscular Dystrophy group. It was very bleak and completely opposite to what we had been told by the consultant. At that time, my other sister, a health visitor, had noticed an ad for the MTM support group in UK in a magazine. I immediately rang and spoke to Sally Foster, co-ordinator of the MTM support group. She forwarded loads of information (much from the USA support group). Again we were shocked by most of what we read – even though Sally had forewarned us that they were nicknamed the "doom and gloom papers".

Maybe we had been a little too optimistic about Zach’s development. We hung on to the knowledge that there is, apparently, a 33 year old with the x-linked form of the condition who allegedly holds tennis championship cups! One thing we have learned is that we must always look at our children as individuals – they will determine how much they can achieve and anything that they do achieve is a bonus. We have felt extremely lucky that we have not had to make the terribly difficult decisions that other parents of children with this condition, who are not so fortunate as Zach, have had to make. It has not been easy for us either – at times it was frightening having to manage a "sick" child at home, alone, when we’d had no previous medical training or experiences. This was especially so for the first year plus of Zach’s life - I remember feeling completely isolated, frustrated and desperate when Zach was 11 months old – if only we could do something to help him. If only we could have a "normal" life and do "normal" things. We couldn’t even go away on holiday abroad for fear of being too far from a hospital familiar with Zach and his condition.!

However, we have learned so much already on how to manage Zach’s condition that we won’t now be bullied by medics. We have endeavoured to take a leading role in Zach’s medical treatment and care – rather than a back seat. We have maintained a "wait and see" approach. We used many complementary medicines during Zach’s first year of life – and holistic massage seemed the most rewarding for both Zach and us as it was something enjoyable, positive and nice for a little boy who had had so many horrible treatments – but I don’t know whether it has helped.

Zach had upper respiratory infections every 3 weeks over the winter period, even though he was on prophylactic antibiotics, and it was decided that he should have a gastrostomy at age 16 months after a diabolical looking video-flouroscopy showing he had weak swallow. It was felt he could be aspirating his fluids. We felt this was to be done as a last-resort - and after trying thickened fluids (which we now only give when he has an URTI). By chance, we were lucky – the thickened fluids helped enormously and gave him the opportunity to improve upon his weak swallow. He can now swallow thin fluids when in good health with no risk. We finally stopped using Zach’s suction machine at age 18 months when we discovered the nebuliser (recommended by a mum of a young girl with MM recessive-type). Zach has since had two more left lung collapse episodes - one after a bout of ‘flu and the most recent just two weeks ago. We have noticed that he now picks up from them much more quickly and we now find we can manage them from home with IV antibiotics and regular chest physio – but so far no suctioning! (He currently has Chicken Pox which may have attributed to his most recent chest infection).

Life has, for the last 6/8 months become more "normal" – Zach’s confidence has taken off since he started walking and he is a little more independent. He started taking his first few unsure steps at age 21 months and is now confidently walking reasonable distances up to ½ a mile! (Albeit a few falls when tired or when he loses his balance having been "brushed past" by another child). He started getting himself up to standing from sitting (against a chair) at age 2 ½ years, but cannot stand up independently to date. He bottom shuffled from age 9 months but started crawling at age 2 ½ years! He can get himself up our steep stairs but prefers not to do so too often! He was potty-trained at age 2 ¾ years but needs help getting his clothes off and lowering onto the potty. To get down from standing he "throws" himself at the settee and collapses onto his knees on the floor! What he lacks in brawn he certainly makes up for in brains and sense of humor and he’s such a bright, amusing boy! His speech and mental development are age 3 ½ - 4 years equivalent. We found that the portage system was extremely valuable in his development. He is by nature an extremely determined young man and we occasionally see him observing his big sister (who has been incredible) and trying to copy. If he sees her hopping on one leg for example – he has a go, topples but still manages to laugh! We love him dearly.

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