My Little Angel....

Our family has been immersed in an extraordinary world over the past 6 years: a world of the parent carer and the teacher, who is our son (Jack). Jack has a life-limiting illness and multiple disabilities. This is our journey so far…

Jack was born 1 month premature by emergency caesarean section. He weighed 4 pound 11, a beautiful boy with the darkest, knowing eyes and a calmness that made me think he has been he before. Finally, our wait was over our perfect little boy had arrived safely. It was love at first sight for the three of us and after a seemingly normal pregnancy, we were now a family. After a week in NICU (neonates) we headed home, excited about this next stage of our life together. From day one, Jack had difficulty feeding and he was very slow to feed. He lacked muscle tone; he struggled to keep his head in an upright position and often slept for long periods of time. We had no family where we lived, so I relied heavily on my local Mother’s group for support and advice and regularly consulted our paediatrician to monitor Jack’s growth and development. Our paediatrician attributed Jack’s delays to his premature birth and said only time would tell. Concerned at Jack’s passive response to all manner of sensory and visual stimulation I took Jack to Gymbaroo hoping that we would see some dramatic changes; however, it was obvious that Jack was not developing at the same rate as his peers.

Our fears were realised some 4 months later when I received a phone call from our paediatrician concerned about Jack’s poor head control and slow reflexes. I was angry that he hadn’t raised these concerns in our previous appointment – and so (remaining positive) chose to focus on all the things that Jack was doing well: he was happy, smiling and gaining weight – so what was all the fuss about? But our paediatrician thought Jack may have Prader Willy syndrome, a debilitating metabolic disease causing muscle weakness and an insatiable appetite. This in itself was an extremely scary prospect made all the more stressful as it took 3 long months and several visits to genetic specialists to receive his test results which, at the end, proved negative.

At the age of 7 months, after Jack had endured several more invasive medical procedures (countless blood tests, scans, lumbar punctures, muscle, skin and liver biopsies), his genetic specialist informed us that he suspected Jack was suffering from a Mitochondrial Respiratory Chain Disorder. We had no idea what this meant, but still reeling in an uncomfortable silence, we knew it didn’t sound good. He said calmly “It is a genetic, degenerative, incurable neurological condition”. We were stunned and speechless. Thoughts were racing through my head but I couldn’t find the words to speak...instead I held Jack even more tightly in my arms, fighting back the tears trying to digest his empty words. The specialist continued to say that mitochondrial symptoms are many and varied but often include muscle weakness, exercise intolerance, impaired vision, hearing loss, trouble with balance and coordination, seizures and learning deficits. We were told Jack would never be able to talk, sit, stand, walk or crawl due to his severe hypotonia (generalised low muscle tone). Then, in the same breath and to push the dagger in a little further, the specialist advised us that it was highly likely we would pass on this disease to any other children we planned to have and the mortality rate particularly amongst infants is extremely high. If Jack was lucky enough to survive 12 months of age, chances are he wouldn’t see his 3rd birthday...in short, go home and enjoy your little baby for as long as you can.

To this day there are no words to convey the depth of our shock. Earth-shattering. Gut wrenching. Life-changing. Generic, easy-to-use phrases personalised by our pain. We felt sick with anxiety and paralysed by fear which later cascaded into a more complex collection of emotions. Love, of course. But also Anger. Loss. Confusion. I likened the whole experience to undergoing emotional open heart surgery minus the anaesthetic because our little boy’s life hung in the balance, and no-one could tell us for certain what the future may hold. We had no-one to turn to that could ease our pain and no definite answers to our never-ending list of questions. Even if we had had our family living close at the time, no one can know what an individual goes through – how they process such news… and specialists had no good news to provide to us … We drove home in silence. Later that evening my husband Trevor made a call to his Dad to break the news. I wasn’t ready to share my feelings with family and friends as I didn’t have the answers to their questions and I wasn’t sure how they would deal with our news. Instead, I preferred to give myself a mental slap, digesting this within myself for the moment, and tried not to let the tsunami of grief crush me because my only child had just been handed a life sentence with no parole.

Seeking a second opinion proved difficult as few doctors and specialists had knowledge of the condition and it was very difficult to diagnose. It was a daily struggle to make sense of meaningful, yet contrasting advice from all the health professionals in our new found world. When I asked Jack’s first neurologist (who shall remain nameless) what treatment options exist, he said Jack will just need to take large quantities of vitamins for the rest of his life. I realise now he was trying to let me down gently.

Jack is almost six years old now and he is continuing to grow and develop despite his debilitating condition. Jack’s cells do not produce enough energy for his body to function properly and even the simplest of tasks require significant effort and coordination. The effects are universal, affecting every system in Jack’s body. Put simply, Jack’s body is a huge city trying to run on a D-size battery.

Life isn’t easy for Jack. Every minute of every day is challenging for him. His condition render’s him extremely hypotonic (generalized low muscle tone), robbing him of the ability to sit, stand, walk or talk, affecting his entire body and impeding his ability to carry out day to day functions without full assistance and use of customized supportive equipment. Jack’s musculoskeletal system cannot provide adequate form or stability to enable free movement; his posture is too floppy; and he is unable to weight bear effectively because his right hip is dislocated and as a result, comfortable positioning is difficult to maintain. His muscle weakness translates into poor motor skills, balance and coordination. Unfortunately, the effects are not restricted to Jack’s musculoskeletal system. He also experiences global developmental delay, seizures, optic atrophy, sleep apnoea, acute hearing, lactic acidosis; he has difficulty regulating and maintaining his body temperature; and has sensory processing issues amongst other presenting symptoms.

Jack is unable to carry his own body weight and even the simplest tasks such as rolling over or lifting his head sees him struggle against gravity to lift his limbs and maintain good head control. For this reason, Jack has continued to receive intensive physio, hydro, occupational and speech therapy along with other alternate therapies to improve his general health and mobility. Even chewing food and swallowing requires significant thought, effort and coordination and he fatigues quickly. Weight gain is challenging for Jack and feeding him takes between 3-4 hours a day because he has difficulty chewing and experiences a delayed swallow reflex. Jack is dependent on me for all activities of daily living and as his primary carer I assist him in completing all tasks including self care, dressing, feeding, mobility and postural adjustments because he is unable to move without great effort.

Like most kids with severe disabilities, Jack has required the use of fully customised, specialised equipment from day one. This includes his wheelchair, supportive seating systems, walker, standing frame, indoor/outdoor mobility bases, commode chair, bath, body splint, AFO’s, arm and leg wraps, specialised car seat and the list goes on... As all of this equipment is imported from Europe and the US, the cost to date is approx $55,000. But the expense is worth it. Trevor and I want Jack to experience a life without limitations and a life of inclusion; his equipment is designed to enable him and it is an integral part of his daily life because it gives him the opportunity to function like his able-bodied peers.

Raising a child with a medical condition that results in severe, multiple disabilities is challenging, heart breaking and rewarding. You are on call 24-hours a day. It is constant: physically and emotionally demanding and downright hard work. Recurrent seizures and prolonged respiratory infections keep me on my toes and shape our family life in between hospital visits and appointments. Prolonged sleep deprivation is par for the course, we do get tired and long to catch up on lost sleep but you just have to keep going.

Despite all the challenges we face, there is so much joy every single day with Jack. Jack may not be able to express himself like other kids or move like other kids, but he has a definite sense of humour and loves to socialise. He is a very happy, smiley, loving, cheerful little boy. Oh, and handsome! His exuberance for life is contagious. He loves to go fishing and paddling in our canoe on the river. He just wants what every other little boy wants - to play in the sand, kick through the leaves, splash in the puddles and stand up tall and draw on the walls.

School has been a very positive experience for Jack. From the age of 2 he has participated in the Conductive Education program at Carson Street School. Conductive Education has been fundamental in Jack’s development because children learn by doing, and that’s what CE allows for little people like our Jack by getting him up out of his wheelchair and showing him that he can move [assisted for the most part] to interact with activities in the space of his environment. Jack is now in pre-primary and attends Conductive Education at Carson Street school 4-5 days a week. It’s a very supportive environment where his classmates and teachers see him as Jack first and foremost and his disability second. Whilst he may take longer to reach his milestones we celebrate every little achievement because we know what it took for him to get there.

The experience of caring, protecting, problem-solving and being an advocate for Jack has dramatically changed our perceptions and our reactions to the events of the everyday world because everything in our world is a challenge.

Yet we have a committed belief that Jack teaches everyone he comes into contact with: he teaches us more about patience and determination than a lifetime of ‘normality’ could ever have shown us and that a miracle isn’t winning Lotto but rather the courage and spirit displayed by our little boy who dares to live each new day fearlessly despite all the odds being stacked against him. I say that Jack is my little “Angel” this side of heaven and we plan to enjoy and cherish every step of our journey with him wherever it takes us!

Charmaine White.

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