• Aminah Hart and her son Louis, who lived with congenital disorder, myotubular myopathy, for 14 months. (Aminah Hart)
In an extract from her memoir, How I Met Your Father, Aminah Hart shares the heartbreak of her second-born son Louis' diagnosis of X-linked myotubular myopathy, a congenital disorder that took the life of her first son Marlon at just three months old.
By
Aminah Hart

30 Mar 2016 - 8:37 AM  UPDATED 30 Mar 2016 - 8:37 AM

Seventeen days after Louis’ birth we received his catastrophic diagnosis. His condition was called X-linked myotubular myopathy and his life expectancy was two years at best. After hearing this I fell apart all over again, obliterating any chance of lasting harmony with Simon, who couldn’t cope with my emotional state. And though I finally had the knowledge I’d so craved with Marlon, instead of providing relief or hope, an overwhelming renewal of loss overcame me along with a feeling of being totally out of control.

After receiving the news I went for a walk to try to catch my breath and regain some sort of composure. Eventually I found myself sitting on a bench by the railway station where I was gripped by the urge to jump on a train and run away, though in reality there was no way I would ever abandon my son. Instead I rested my head in my hands and asked the universe for a renewal of strength. It was my version of praying, despite believing God didn’t exist. When I looked up again I was astonished to see a sign I’d never noticed before, which said:

“For the unlearned, old age is winterFor the learned it is the season of the harvest. If we had no winter the spring would not be so pleasant. If we did not sometimes taste adversity, prosperity would  not be so welcome. In the depths of winter I finally learned, there was in me an invincible summer. There are stars whose light only reaches the earth long after they  have fallen apart. There are people whose remembrance gives light  in this world long after they have passed away. This light shines in our darkest nights on the roads that we must follow. Anon

Somehow reading these words recalibrated my thinking and gave me the slap I needed to snap out of self-pity and dig into my reserves of fortitude to find a way forward for my son. Louis was alive and he was perfect, it was my expectations that needed adjustment and the onus was on me to make them.

I needed to snap out of self-pity and dig into my reserves of fortitude to find a way forward for my son.

We had a cause for Louis’ muscle problems and a reason for him being so sick but not a single doctor or nurse in the NICU  had ever heard of X-linked  myotubular myopathy, let alone worked with a patient afflicted by it. Even the geneticist had never seen a newborn suffering from it firsthand. However, she did offer a ray of hope when she told me she’d spoken to Associate Professor Andrew Kornberg, who was a neurologist at Melbourne’s Royal Children’s Hospital specialising in neuromuscular disorders and had seen the condition before, and he’d agreed to see Louis as soon as he could. She hoped he’d be able to give me further information and some- thing in the way of a prognosis.

I thanked her gratefully, telling her that none of the doctors in London had been able to provide me with any sort of real prognosis for Marlon. She then organised for a sample of Marlon’s DNA to be sent over from London, which she dispatched with a sample of my blood to the only molecular testing centre for MTM in Australia. When the results came back they showed that Marlon, Louis and I shared the same variation in one of our genes. Amongst the tens of thousands of genes in our genetic code one minor glitch was all it had taken to dislocate the boys from a normal life. Much like a typographical error in a single word can change its meaning, a G transposed for an A in a single string of genetic coding on one of my two X chromosomes had caused the life-threatening condition Louis had.

I learnt that X-linked myotubular myopathy only affected boys because the XY genome that made them male denied them the backup that a second X chromosome provided to girls. So while women could be born with the genetic flaw but not necessarily suffer any symptoms, they could pass the disease onto their sons. With a carrier mother both of my sons had had a fifty/fifty chance of having the condition, depending on which X chromosome they inherited, so it was just tragic bad luck that both Marlon and Louis had both gotten my dodgy X.

It was just tragic bad luck that both Marlon and Louis had both gotten my dodgy X.

At a molecular level the faulty gene caused problems with a particular protein that resulted in the cells in the muscle fibres not developing properly, leaving the boys in a profoundly weakened state. Despite the miracles of modern medical science, the increased understanding of genetics, and the constantly advancing treatments and cures when genetics went awry, there was nothing that could alter the immediate course of Louis’ condition.

It was impossible not to blame myself for the rogue gene I’d passed on although I well knew the futility of guilt. I was burdened by the knowledge that despite Marlon’s monumental fight for survival he’d been destined to lose his battle and die. Now Louis faced the same struggle and the knowledge that I had absolutely no control over his fate was almost too much to bear.

Despite my pain I developed a defiant resolve that his fight to survive wouldn’t be in vain, and I would do whatever it took to keep him going for as long as possible  and give him a full and happy life.

So, by day Mum and I would sit by Louis’ bed and do whatever we could for him: massaging his limp little limbs to try to infuse them with power, bathing and cuddling him, singing and reading to him, putting on finger puppet shows, pulling faces and performing antics to try to make him smile, and tickling his feet, which he seemed to love. I also pumped breast milk regularly to sustain him and whispered endless words of encouragement to  him, telling him all the good reasons he had to stay alive and all the wonders he’d see if he got to come home, and willing him to keep getting stronger every day.

I would do whatever it took to keep him going for as long as possible  and give him a full and happy life.

By night I scoured the internet for more insights into MTM, finding inspiration in people’s tales of survival in the face of seemingly unbeatable odds. The further I searched the more positive examples I found to fuel my fire, to never give up on Louis and to never give up hope. I forced myself to look outside the statistics and the medical approach to reason, to ignore the dire mortality rates and not give in to negative thinking. And I also reminded myself of Anne-Marie’s wise words about Marlon, focusing on Louis rather than his condition.

Louis gave me every reason to be hopeful, and concentrate on what he achieved rather than getting lost in the mire of his disability. He passed one milestone after another, first surviving the muscle biopsy operation that confirmed his diagnosis, then getting off the ventilator and not becoming dependent on the machine like I had feared he might. A couple of weeks after birth he required minimal breathing support and then learnt to breathe on his own. Despite his physical limitations, I forced myself to believe Louis had unlimited potential in his non-physical qualities which could fill his life with goodness and fulfilment. If I looked deeply into his beautiful liquid brown eyes all I could see was my bright and strong-minded child.

Once again, life in hospital was a balancing act between hope and despair with Louis stable one moment and then teetering on the brink the next. And though I’d been through it before there was no getting used to it, in fact experiencing it the second time around was bleaker because of the diagnosis we’d received.

The medical team looking after Louis had expertise with premature babies but were essentially flying blind with a child with Louis’ particular needs. But he fast became a popular long-termer and the nurses were obviously very fond of him despite his daily blue episodes keeping everyone on their toes.

If I looked deeply into his beautiful liquid brown eyes all I could see was my bright and strong-minded child.

When Louis was around three weeks old, Associate Professor Andrew Kornberg came to see us at the Mercy as  promised. A warm and compassionate doctor, he gently told Simon and me that there was some validity in the statistics on mortality and premature death in infants with MTM. But he also provided us with a glimmer of hope when he told us he knew of boys with MTM who hadn’t died as babies, and in fact there were children living with the disorder well into childhood and beyond. He also said that though peer-reviewed research into MTM was scant, anecdotally it appeared to be a spectrum disorder with varying degrees of severity, meaning it had unpredictable outcomes too. Andrew believed that if Louis could get through the precarious early months of his life then we could expect to take him home and look after him with support from the multi-disciplinary team of neuromuscular specialists at the Royal Children’s Hospital to care for his special needs.

Andrew’s words immediately cast Louis’ future in a new light for me and increased my resolve to value the quality of his life over its length. Andrew also offered to introduce us to another family in Melbourne whose little boy had been born with MTM nine months before Louis.

As a result of that meeting with Andrew I knew there must be other children with MTM  around the world and when  I went online to check I found an article about a boy in the US called Joshua  Frase who’d  been born with X-linked MTM. Joshua  had well and truly passed the two-year life expectancy for children with MTM and was still alive at 13. I was heartened to read that Joshua was a happy, vibrant, funny and intelligent schoolboy and although his body didn’t work properly he’d  learnt to breathe on his own and there was nothing wrong with his brain. On the contrary, he excelled at academic pursuits and by all accounts was a popular kid whose peers took special care of him but otherwise treated him just like their other friends. It was a story that offered a tantalising germ of hope and gave Louis’ life a more optimistic outlook.

It was another parents’ club I had no desire to join but I couldn’t have been more grateful to have found them and been given their lifeline of support.

I also read about a boy in the UK called Zac Hughes, who seemed to have a milder form of X-linked MTM. Zac was another story of survival from fragile and tentative beginnings and he too was a smart and successful achiever at school who, despite his physical challenges, embraced life with guts and gusto, showing strength lay in determination rather than muscles.

I reached out to both Joshua’s mother, Alison Frase, in the States and the founders of the Myotubular Trust in the UK, who embraced me virtually and took me under their wings with kindness, under- standing, experience, information and introductions to the global online MTM community. It was another parents’ club I had no desire to join but I couldn’t have been more grateful to have found them and been given their lifeline of support.

There were several other MTM boys around the world and although they were few in number, they were living rich and happy lives despite their significant challenges, limitations and vulnerability. Their families spoke universally of gentle and happy dispositions similar to that of Marlon and Louis, and they seemed to share positive cognitive traits along with similarly stubborn wills. There were three-, five- and eight-year-olds as well as boys in their early teens. If they could do it I determined we could too, and I was incredibly grateful to the other amazing families who offered me mentorship, guidance and advice from their firsthand experiences of the difficult early days.

With a new village to help me raise Louis I decided he could have a good life, and while he might not win any running races his mind could be his might.

This is an edited extract from How I Met Your Father by Aminah Hart, published by Allen & Unwin, RRP $32.99, available now. 

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