The parents of a five-year-old boy with a rare disorder are doing their utmost to give him a leg-up in life. But they are having to deal with a double blow: the challenging condition his younger sister is also facing. They tell Fiona Galea Debono they will never stop looking for opportunities to improve their children’s future.

All children are special and unique – but siblings Luke and Chrissy Pitt happen to both have conditions that make them that precious one in 250,000 and one in 30,000 respectively.

When Luke was born with a bowed leg, his parents Audrey and John did not think much of it – it was quite normal and was meant to straighten, or so they thought.

At six months, however, he was diagnosed with Neurofibromatosis type 1 (NF-1), a genetic disorder of the nervous system that afflicts one in 3,000 births, and in Luke’s case, developed from a spontaneous mutation in the genes. But it did not stop there…

In extremely rare cases, NF-1 can also cause limb deformities, and the cherub-like baby’s leg bone was surrounded by tumorous tissue that ate away at it. 

Strong and determined, the parents left no stone unturned to find the best possible treatment for their son. They embarked on a journey to see Luke, now five, run freely, and this summer, they are travelling back to the US for two more operations.

At first, their research proved disheartening. They were facing one of the most challenging orthopaedic surgeries to treat the disease effectively, as well as plenty of ensuing complications, including a high re-fracture rate and loss of union of the tibia. 

Shockingly, they also discovered that, in the UK, where they sought medical advice, most parents had opted for amputation for their children. But Audrey and John simply would not accept that path for Luke and their determination and hope led them to look for other routes.

In Germany, expected results from the more advanced methods to treat the disease would still have posed many limitations for the then three-year-old boy, who would have had to wear a brace for the rest of his life, while spending a year with a bulky external fixator to grow the bone.

This also meant his parents would have to turn its screws every six hours, resulting in loss of muscle and the possibility of infection.

Wanting the best for their child, they explored the possibility of treatment by world-renowned orthopaedic surgeon Dr Dror Paley, whose name and his 100 per cent success rate had been popping up in their connections via Facebook with other parents in the same situation.

John and Audrey speak.

They went from the bleak prospect of amputation to the promise of bone union and no refractures.

Nonetheless, Audrey admits it was the longest and toughest decision the family ever had to make.

In February 2017, Luke underwent a life-changing, five-and-a-half-hour surgery, which culminated in “a look of pride in Dr Paley’s eyes” when he emerged from surgery that Audrey can never forget.

Today, despite what the family is about to go through again in the next stage of treatment, she feels serene about Luke’s condition and is raring to get it done, knowing that the right treatment has been found and taking the whole experience in her stride.

The Pitt family: Luke, John, Audrey and Chrissy. Both children have unrelated, rare genetic conditions. Photos: Chris Sant FournierThe Pitt family: Luke, John, Audrey and Chrissy. Both children have unrelated, rare genetic conditions. Photos: Chris Sant Fournier

I couldn’t believe our daughter was diagnosed with a separate unrelated genetic condition just as we thought we finally had things under control with Luke

But she admits the second blow, dealt by Chrissy’s condition, diagnosed when she was one, was a bitter pill to swallow – she could not believe the saga had not ended with Luke’s ordeal.

“I had accepted Luke’s situation but I couldn’t believe that our daughter was diagnosed with a separate unrelated genetic condition just as we thought we finally had things under control with Luke. What were the chances?”

The family had to face a barrage of new medical terms they had never heard of as Chrissy was diagnosed with an imbalance of chromosome 8, which means she is globally delayed, intellectually and physically.

A placid baby and a godsend, it soon turned out that her quiet nature was not what it seemed and that something was not quite right with her development.

Things came to head just before the Pitts travelled to the US for Luke to undergo his first operation. She was left behind with her grandmother for further investigations at Mater Dei.

Chrissy was diagnosed with motor-planning difficulties and the family’s focus soon shifted to her and the need to provide continuous therapy for the now three-year-old to help her overcome her challenges and be able to achieve independent walking and speech.

In truth, while Chrissy is a determined, hard-working child, her condition is even more complicated than Luke’s. “I wish I had the solution for her that we have for my son. We now know that by 16, once he reaches bone maturity age, Luke will remove the leg brace he wears for protection when he goes out.

“But Chrissy’s condition is neurological, and apart from therapy and the constant input from the family and her LSE to improve her independence, there is little else we can do...

“I worry about her needs when we are not around anymore, so now is the time to help her to be semi-independent at least by being able to make herself a piece of toast and a cup of tea in the future…”

The family struggled with the idea of publicising their story to protect their children’s privacy but eventually, strengthened by others’ support, they decided to go for it to raise both money and awareness about these conditions.

“During our research, we met so many families who are in the same boat and we drew so much support and information from them. Now, it is our turn to give back to those who are wondering what direction to take.”

Luke’s first surgery in Florida cost €115,000, which the working parents self-funded, thanks also to the support of family and friends.

[attach id=729717 size="medium" align="right" type="image"]Luke’s leg brace will come out when he turns 16.[/attach]

The upcoming surgeries involve the removal of metal work in the leg that has done its job and the replacement of telescopic rods that grow with Luke and have reached their maximum length, as well as tackling an ankle issue. And the bill will amount to €67,000, excluding travel and accommodation expenses.

Moreover, Chrissy’s 10 weekly therapy sessions cost them an additional €12,000 a year.

They are grateful to anyone who has helped them in their journey so far and have now set up a fundraising philanthropic entity and campaign through a temporary voluntary organisation, A Better Life for Luke Association, complete with a website and Facebook page that is being launched today to guide people to contribute further.

Luke has asked to “cancel the operation”, but his parents reassure him of their support. Sometimes, he asks them why the other children are running away from him, and they explain that they are only running faster.

Despite these concerns – and the fact that before the first operation, Luke suffered to walk – his leg has healed well and the bone has strengthened and joined. He is determined to jump and is constantly practising, but otherwise, he is doing pretty much what other children his age do…

Only last month, Luke participated in his school’s Sports Day. Few parents and children there would have noticed what a massive milestone that was for the boy and his family. And the fact that they didn’t is actually a good thing.

It is testament to the unstinting efforts of his parents to give their son a leg-up in the race of life and remove any stumbling blocks along the way. Luke could run with his friends, and although most would take that for granted, for the Pitts, the racecourse has been much longer and the hurdles higher.

“It all feels very unreal, but we will continue to do the best for both our children. Our promise to them is that we will never stop looking for opportunities to give them a better life.”

You can help too

To contribute to Luke’s medical bills, check out www.abetterlifeforluke.com and Facebook page A better life for Luke. Donations can be made by bank transfer to the BOV account: A Better Life For Luke Association, MT65 VALL 22013000000040025883194; via SMS on 50619258 for €11.65; or using PayPal and credit cards through the website. If funds raised exceed the goal to cover the cost of the upcoming two surgeries, the money will be transferred to another voluntary organisation.

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