We were warned that Alexander would probably not walk until well past two but he walked at 14 months.  In fact it wasn’t until he was around two years that he seemed much different to other children, except for his size, but his inability to talk then set him far apart. Despite the early heart problems he grew rapidly in his first year and was 12 kgs by twelve months of age.  By two years of age he was 22 kgs.  Our daughter who is now eight weighs about 27 kgs.  The geneticist recommended an appointment with a growth expert who was visiting from the USA but nothing conclusive resulted from this.  Then Alex’s ear specialist recommended bone age tests.  On the 5^th October 1993 Alex’s bone age at 2 years and nine months  was four years.

From 11 months of age Alex was a very poor sleeper (this persisted for the rest of his life).  He was often awake for a few hours each night. 

From the age of five Alexander attended Narbethong Special School.  As a small child he was very visually orientated and appeared alert and intelligent with an excellent memory.  However the dual sensory impairment meant a lot of frustration and severe behavioural problems often surfaced.  We had many holes in our walls over the years from head banging and various family members, teachers and carers were bitten by Alex.  He was a difficult student to teach due to the problem of language input but showed potential with a determined personality.

As a family member Alexander required constant supervision as his sensory impairments and lack of language meant he was a danger to himself.  Doors had to be locked, floors cleared and food cupboards locked – when well he was always hungry! 

Not long after Alex turned two the ophthalmologist repeated Alex’s ERG and unfortunately the results now showed that Alex’s eyes had both cone and rod dystrophy. Despite this set back Alex had about nine good years where he was on no heart medication and was able to run, swim and play.  He was toilet trained by ten years of age and enjoyed outings with family and friends.  He always had a huge appetite and food was one of the great loves of his life.  During Alex’s good years he unfortunately suffered continual external and middle ear infections.  He was given grommets and his adenoids were removed to try to alleviate these problems.  He also tended to suffer recurrent chest infections and was prone to catching colds and suffered with them for longer than one would expect.  One of his carers did comment when he was about eight years of age that he got quite puffed on the trampoline. Another comment that I remember was from the hairdresser who noticed that he had a few patches of alopecia.

Then in about June 2001 Alex’s health deteriorated – he become pale, fatigued and breathless.  Many trips to the local GP resulted in continual antibiotics and asthma medication but the problems persisted.  After about ten weeks with no improvement I requested a referral back to Alex’s old heart specialist.  Fortunately we didn’t have to wait long to see him as the heart echo revealed that Alex’s cardiomyopathy had returned and his heart was functioning at only about 1/3 of a normal heart.  A regime of heart medication was prescribed and over the next five years Alex’s heart recovered until it was almost 2/3 of a normal heart.  However, Alex never recovered the energy and vitality he had had during his nine good years.  He become fatigued easily he lost muscle definition, his calves seemed tight and shapeless and his feet broad and flat. He tended to walk with uneven gait sometime holding his hip and often leaned into his carers as if he had a balance problem.  He still enjoyed outings but often now using a wheelchair or walker to lessen the load on his heart.  Eating remained a pleasure for him and in fact grew to be about 180cm tall and 85 kgs. However at this size he was similar, and in fact smaller, than some of his peers.  His size no longer looked out of place.

Alex's problems with chest infections persisted and scoliosis was notes from one of his x-rays from 2003:

From about the age of 11 we noticed that Alex had skin problems.  One time he had 100s of skin tags and another many warts on his legs.  From about the age of 14 he had persistent discoloured skin patches under his arms, on his stomach and around his month.  It was like an excess of brown pigment.  His knees had a very thick covering of wart like skin that appeared to be a grayish colour.   None of the prescribed skin preparations did much to alleviated these problems.  He was also often very thirsty and would come in after school and drink 5 or 6 cups of water.  I was often puzzled though because his urine output didn’t seem to match his fluid input. Around this time we also noticed that Alex was now behaving like someone who was totally blind.  He no longer held objects close to his face to examine them and seem to have lost all of his ability to detect light.  He also began to suffer at times persistent, severe nose bleeds and sinus type symptoms.   He began to reach puberty but strangely his voice did not break and he had very little body hair.  He also had rounded hips and a feminine like chest.   It was hard to know where to take him next – a skin specialist? An endocrinologist? An ophthalmologist?…  Coupled with this we had him at the GP almost every week and sometimes twice each week in 2007 for sore ears, chest infections and wakefulness. 

In August 2007 Alex showed signs of being unwell.  A couple of times he lay down and pulled his legs up as though he had stomach cramps.  We thought that he may have had the illness that had been going around his school and Andrew was concerned that he may have appendicitis. These episodes seemed short lived and Alex continued to happily attend school and participate in school activities.  His appetite remained and he was sleeping better.  Then on 21^st August we received a call from his school notifying us that he had collapsed and his colour was bluish.  We took him to Redcliffe hospital where an ECG informed us that he had an irregular heart beat. 

Alex had been admitted to Redcliffe hospital a couple of times over the years with severe chest infections and on one occasion digoxin poisoning. The doctors there had also commented that whenever they tested his kidneys the reading was abnormal 

As it was a heart problem this time, Alex was transferred to Prince Charles Hospital and a heart flutter was diagnosed.  Further tests revealed elevated liver enzymes and abnormal thyroid levels.  A scan of his liver revealed fatty liver.  Plans were made to put his heart back into a normal rhythm but it was discovered that this would not be possible for a month as a clot was discovered on his heart.  During this time Alex was very reluctant to eat or drink – he was obviously very unwell.  It was very difficult to get him to swallow any of his heart medication or the medication to dissolve the clot.  It was decided to let us go home after nine nights but sadly on the tenth day Alex’s condition worsened with very faint blood pressure and postural hypertension.  That afternoon he went into cardiac arrest and he could not be revived. 

Our precious Alex was gone – despite the difficulty of living with so many failing body systems, he had grown into a lovely person, much calmer than his early years.  He had friends, enjoyed outings and remained determined until the end.  

One of the problems with keeping Alex well was that he had so many systems that didn’t seem quite in order and they were known about by some doctors but not by others.  It was difficult to keep the four members of the family happy and busy and to work and take Alex to a myriad of appointments.  I decided that managing Alex’s heart was the top priority after it began to fail again in 2001.  Alex’s health records were spread out over a variety of medical people –

Chest problems, external and middle ear problems and skin problems –   Kipparing 7 Day medial centre

Chest problems, kidney problems, heart problems – Redcliffe Hospital

Deafness – ear specialist

Blindness – pediatric ophthalmologist

Advanced growth in childhood - geneticist

Cardiomyopathy, liver problems, thyroid problem – Prince Charles hospital

Vision problems, fatigue, muscle weakness, nose bleeds, and huge appetite – Narbethong Special School