How it all started
Luke, our first child was born five years ago. A few months after he was born Luke was diagnosed with neurofibromatosis type 1 (NF 1). It is estimated that as many as 1 in 3000 births are born with NF1. NF1 is a genetic disorder of the nervous system, which in our son’s case happened from a spontaneous mutation in the genes.
What is Congenital Pseudarthrosis of the Tibia?
In extremely rare occasions NF1 can cause limb deformities and Luke was that precious 1 in a 250,000 child who was affected by it. This disease surrounds the leg bone by tumorous tissue and the cells eat up the bone.
What we read online was quite disheartening
We immediately started reading about this condition and were upset to learn that this was one of the most challenging Orthopaedic surgeries to treat effectively. A lot of complications come with it, mainly the high re-fracture rate and loss of union of the tibia after multiple unsuccessful surgeries.
“Most parents of children with this condition have opted for amputation”
Despite what we read we were full of hope to find a solution and we travelled to the UK. We will never forget the consultant’s last words: “Most parents of children with this condition have opted for amputation.”
2017 – Exploring other options
We didn’t feel the amputation route was for Luke. We wanted to explore other possibilities. This time we got on a plane to Germany. The methods used there were more advanced for this particular condition, however the expected results would have still had many limitations for our (at the time) three year old boy.
If we went down this road this meant Luke had to wear a brace for the rest of his life. It also meant having a year using an external fixator to grow the bone, meaning 12 months of turning screws every 6 hours on a 3 year old child, and therefore losing a lot of muscle, and the infection possibilities was a tough path to take.
There must be another way
We had previously heard of a world renowned Orthopaedic Surgeon Dr Dror Paley and that option was always kept on the back burner. Facebook helped us connect with parents internationally whose children suffer from this condition, and tried different methods of treatment with different orthopaedic surgeons. The same orthopaedic surgeon’s name kept popping up. He had 100% success rate in treating this condition, and families from all over the world go to him. Can this be real?
100% success rate
We went from the possibility to amputate to a 100% success rate for the treatment of CPT, with bone union and no re-fractures. These figures were from the last 63 patients Dr Paley had performed surgery on using his last protocol. This sounded as an extremely ambitious statement to make especially in the medical field. Currently Luke wears a leg brace for protection when he goes out, it will become smaller as he gets older and will not need it once he reaches bone maturity age at around 16 years.
Time was on our side so we continued to research and connected with families whose child had gone through this surgery with Dr Paley and with other surgeons around the world. Parents spoke in their most honest and humble way.
Parents sent us pictures of what their kids were able to do from a physical point of view pre and post op, including X-Ray of their child’s case. We were not ready to face the loss of our child’s leg when we knew that there was such a promising treatment and we pulled through together as a family and made the toughest and longest decision we’ve ever had to make.
2017 was the year we made a decision
In Feb 2017 Luke underwent a life changing 5.5 hour surgery. It brings a combination of tears and an adrenaline rush every time I speak about the moment Dr Paley came out from surgery in his scrubs with an energy I can’t ever describe well enough, group hugged us and said… “We got it!”
Luke’s surgery went right as we wanted it. The huge pride of achievement was right there in Dr Paley’s eyes.
Fast forward a couple of months Luke leg’s healed beautifully and the bone unioned , he is doing extremely well, he climbs, runs, swims and pretty much does what other children his age do… He had an awesome time at Sports Day with his friends few weeks ago!
You’d think this is the end to this story
A couple of weeks before leaving to the US, we were getting signs that something was not going right with Chrissy’s development, she was always a very quiet baby but we had a feeling that there was more to her placid behaviour. Whilst we were away for Luke’s surgery, Chrissy needed to stay back in Malta for further investigations and be in the care of the amazing Medical Professions at Mater Dei.
Whilst we were away, Nanna took over the responsibility of looking after Chrissy. On our return from the 6 weeks trip in US, our focus quickly shifted from Luke to Chrissy. We had it on paper Chrissy was diagnosed with a separate unrelated genetic condition.
Chrissy, our 3 year old
Just as we thought we had everything under control and we had a solution for Luke, we were blown away with new medical terms we had never heard of. Chrissy was diagnosed with an imbalance of chromosome 8, which causes motor planning difficulties affecting her mobility and has a severe speech delay. Chrissy is 3 years old, she’s is a determined beautiful girl who works really hard.
Chrissy needs constant therapy to help her overcome her challenges. Thanks to an amazing team of dedicated, talented therapists who work with her on daily basis, we are full of hope that she will achieve independent walking and that she will become verbal.
It all feels very unreal, but we will continue to do the best for both our children. Our promise to our kids is that we will never stop researching and looking for opportunities to give them a better life.
Here is where we need your help
Luke is due for 2 surgeries in the US this July and August 2019, the surgeon will be removing metal work which has done its job and doesn’t need to be inside the leg anymore, replace telescopic rods which grow with him and have now reached their maximum length and tackle an ankle issue which needs to be addressed this time.
Luke’s family have self funded the bigger part of Luke’s first surgery back in 2017 costing over $115,000 including flights and accommodation, and have so far managed to keep up with providing Chrissy’s daily therapy sessions amounting to €12,000 yearly.
Luke’s next upcoming surgeries this summer will cost €67,000
($75,000), excluding travel and accommodation.
Thank you for all your support and generosity!
We would like to thank everyone who has helped us in any way. A very grateful thank you to MCCF, Puttinu Cares, Agenzija Sapport, Swim Aid, CDAU, the local Doctors who work with Luke and Chrissy on goingly, the amazing support system at the kids schools, friends, acquaintances and people who have preferred to stay anonymous who have helped us in this journey.
“A Better Life For Luke Association” is a philanthropic cause set up by a temporary voluntary organisation (VO/1690)
Please do reach out to us if you have any questions on firstname.lastname@example.org
If contributions exceed the €67,000 ($75,000) goal which covers the cost of Luke’s upcoming 2 surgeries, the excess money will be transferred to another voluntary organisation.