Brittle bone disease – 2 children, nearly 100 fractures

I thank Janette, her husband Matt, and their children Riley and Tiarna for sharing part of their journey. To bring awareness and shed light on living with a Rare Disease, in this case, a rare and yet undiagnosed form of Brittle Bone Disease.

I admit, at first, I was nervous and a little apprehensive to take on Riley and Tiarna’s case, in August 2019. The unknown of their condition, the risk of fractures and my limited experience with Brittle Bone Disease (I had only worked with 1 other child prior) – meant I felt I was under-skilled and underprepared. But of course this didn’t matter, they needed to be heard and supported. I researched, liaised with specialists, and we did our best and I am grateful for being a part of their journey…. we haven’t looked back!!

Thank you Janette for sharing – you are an absolute pillar of strength for the kids and I value your openness, strength and commitment to their care.

This is their story, in Janette’s words, and I hope you enjoy and can gain an insight into the condition and the struggle families experience, day to day.

This is long but is only a snippet of our journey so far……

Our journey started off with Riley breaking a few bones when he was nearly 2 year’s old, from small trauma like kicking his toe or catching a ball. Both Matt my husband & I would ask the doctors in the Northern Territory, where we were living at the time, if there was something wrong with his bones and would always get the same answer “it would show up on his x-ray as that’s how we diagnose brittle bones”. A few month’s later we moved home to Calliope, Qld and I fell pregnant with our second child and Riley tumbled off the couch and chipped his ankle bone. That’s when we thought, this definitely isn’t right, so we got referred to a local paediatrician and then to Lady Cilento Children’s Hospital (now Queensland Children’s Hospital). His appointment was 3 week’s after the arrival of our daughter Tiarna. He had a bone density test done and we were told “everything looks fine, he is just a typical boy that hits his bones in the right spot to break them, and if you have any concerns in the next 12 months come back’ – That was a relief. But unfortunately that relief wasn’t long lasting……

When Tiarna was 3 month’s old we moved back to the Northern Territory for Matt’s work. Life was great, we had two beautiful healthy children, then roughly 1 month later our world was flipped upside down. Riley stood on the back of Matt’s thong and his leg done a twisting motion which resulted in both his fibula and tibia breaking. We spent a week in hospital, we explained about the test that was done in Brisbane, they ordered those results and sent them to Sydney, completed multiple tests on Riley and we even had Child Safety involved which was very daunting. Results come back that it looked like Riley had osteopetrosis a genetic condition which makes the bones have a higher than normal density which results in brittle bone. Children services of course closed the case which was a big relief and Riley spent 6 week’s in a above knee cast. At his 6 week check up he was put in a below knee cast, fitted with a shoe and was allowed to walk. Life seemed to be slowly getting back on track but then while packing up his toys one day, he slipped on a matchbox car and broke his femur bone. I scooped him up and sat on the lounge with him, which was the longest 45 minutes, waiting for the ambulance to arrive. Every deep breath I took Riley would scream in agony. After several hours and x-rays he was put into traction while the doctors thought of a plan for his fracture. I will never forget my reaction when I saw the side on view from his xray, his bone was literally snapped and it made me physically jump. The doctors said ideally they wanted to do surgery to fix it but said that could potentially shatter his bone so a few day’s later he was taken to theatre and a hip spica cast was put on.

I remember seeing him in this massive horrible cast and thinking to myself how am I going to deal with this. At his check ups it was always a relief to be told how well I was doing and how clean his cast was. He spent 6 week’s in it, but once it was off, we experienced mixed emotions, wanting him to slowly start to walk again but what if or when it could all happen again? Riley started preschool which brought fears but the school was absolutely fantastic and very accommodating to all his needs and he had a full time teacher aid with him.

Month’s passed with more fractures and then Tiarna started pulling herself up tp standing at the couch. I went to hang out the washing one day and she started crying so I came inside to find her sitting on her bum crying uncontrollably, so off to the hospital we went. Every bump in the road would make her scream in pain so I knew something was definitely wrong. After her x-ray confirmed a fracture of her tibia I broke down and said she is going to have the same condition as Riley? At her orthopaedic appointment I was told the likeliness of her having the same condition would be like winning lotto twice in one week. After tests being done it was confirmed that she did indeed have it.

Month’s and several fractures later we flew to Sydney to meet a bone specialist that ruled out osteopetrosis, osteogenesis imperfecta and some other brittle bone diseases. We were told just to say brittle bone disease and also told that there is no treatment for it. He also confirmed that on paper Tiarna’s bones were twice as bad as Riley’s……, what are the chances of that?? He said in all his year’s of working and the places he had travelled, he had never quite seen anything like our 2 children, where so many fractures would occur in such a short period of time. More blood tests were done and Riley had a bone biopsy that was sent to Canada to try and figure out what gene was causing it and to pin point a formal diagnosis? Nearly two years later, we are still waiting on a diagnosis.

After all of this we flew home and fracture after fracture occurred and then Matt’s work finished so we started the journey home to Calliope Qld. It was hard to try and explain over and over again about the kid’s condition to doctors in Gladstone. We have had many problems with doctors not listening to us, with what care best suits our children, as we all know, what works for one may not work for other’s, and then on the other hand we have had some fantastic doctors that let us lead the kid’s healing process. After several emails and phone calls, we got another appointment in Sydney after which both the kid’s were started on bisphosphonate IV infusions, that were done every 3 months as a trial medication. Sydney also referred us back to Brisbane as we had moved state’s so they could no longer have us referred to them (hospital policy). So it kind of felt like we had lost the best thing to happen to us and we were back at square one, but it didn’t take very long for us to start feeling comfortable with our new specialist. Nine month’s after starting the trial medication our specialist put a stop to it as both the kid’s had still had multiple fractures, so it was obvious it wasn’t working……. that was of course, heartbreaking. We emailed the specialist pleading that there must be something out there that can help. That’s when we started discussing growth rods – this was so scary but exciting at the same time.

Week’s passed and Tiarna broke her femur which was by far the most traumatic break out of this journey so far. We were taken to Rockhampton via road ambulance and hospital policy was that she wasn’t allowed a certain medication until a certain time (that works wonders) so we spent the next 5 hour of her trying her hardest to fall asleep but every time her body relaxed she would get a spasm and she literally screamed for 5 hour straight in agony. Finally it was time for the medication, she was put into traction and she finally had some relief and slept for the next 8 hours. The next day she went to theatre to have a hip spica cast put on, the doctor told me later that even some of the nurses were brought to tears and he had to leave early from how traumatic those 5 hours were. The next day we were allowed to come home and about a week had passed and we thought our luck surely couldn’t get any worse……… but it did and the Riley also broke his femur. So another trip to rocky and theatre for a hip spica cast.

This went a lot smoother then Tiarna’s as I made sure my voice was heard. 10 day’s later Riley had his check up to see how he was healing and we got bad news – his bones were not healing well and they were calling Brisbane. Later that day Brisbane called to say we would be flown on Royal Flying Doctors and Riley’s femur would be surgically fixed with a growth rod. This was a extremely anxious time for us, we just kept thinking of those words we were told year’s before that surgery could shatter his bone. After several questions to the surgeon we felt a little more at ease. A few days later he had his surgery and he had growth rods put in both his femur and tibia bones. If that wasn’t enough, he developed nerve pain after his surgery so recovery was insane, 3 week’s of constant screaming from pain. He finally he had his first post op check up back in Brisbane and it was confirmed nerve pain –  after starting the medication we could finally see our happy little man shining through again. So after missing month’s of school he went back in his wheelchair, where he thrived.

In the meantime Tiarna had a appointment with the surgeon to discuss getting rods, but they wanted to wait for Tiarna to turn 4 unless she keeps having fractures. He told us every fracture was to also be referred to him from the local hospital, which was a absolute headache. I won’t go into detail but finally they listened and the surgeon called and said they will do her tibia rods early. So a week later we flew to Brisbane and had rods put into both her tibias. Thankfully her recovery was a lot better than Riley’s.

I can say these rods are the BEST thing to happen to us. It’s not a cure but they have given my children 100% better quality of life. The bones that are rodded can still fracture but it doesn’t happen as easy, the fracture isn’t as bad and they don’t need to be put into a cast as the rod acts like a internal cast. Nine month’s after Riley’s surgery I can say he has only had one fracture and was up walking again after 3 days. He has had in total, roughly 60 fractures, at nearly 7 year’s old. 7 month’s after Tiarna’s surgery she has only had 2 fractures bringing her total to 32 fractures at nearly 4 year’s old.

The worst thing, other than of course seeing them in pain and not being able to be “normal kid’s”, would be some of the looks we have received and hearing things like “oh surely they are used to the pain now” (the pain never goes away just because it has happened so much) and also “give them more milk”, no mild isn’t going to cure a genetic condition.

We are very open people and willing to answer any questions about the kid’s condition to give others an understanding, possibly help other people going through a similar situation and it also gives me relief talking about it. I will forever be so grateful to our surgeon, he has changed our life like he will never believe and has given us a miracle. In the middle of all of that we found Jess from Milestones Physiotherapy, who in my eye’s is also a miracle worker, as she has worked wonders with both the kid’s but especially Tiarna. Anyone that knows Tiarna well, knows she is our hard headed, wild child, of course after all she has dealt with already, is completely understandable. She would get extremely frustrated when being stuck in a cast and Jess would do different techniques that would help with her frustration but also help strengthen her body at the same time. Both the kid’s and I appreciate Jess and her team so much and the kid’s look forward to every one of their physio sessions. If you were to ask us who our superhero was, hands down without hesitation, we will always say, our perfectly imperfect pair, Riley & Tiarna. They have been through way more than anyone deserves and they do it all, with a smile.

My biggest piece of advice would be always go with your gut if you feel something isn’t right with your children and also, never give up hope.

Thank you for reading, Janette

Tiarna and Riley February 2021 – cruising the beachfront on their new Try Bikes.