The story of Lachlan
Lachlan was born on 20th August 2017, at exactly 32 weeks gestation in Brisbane, Australia.
He faced the usual challenges with being born 8 weeks premature, learning to breathe and feed. At 3 days old, he was diagnosed with a Ventricular Septal Defect (VSD, a hole in the heart.) We were told he would need open heart surgery, but would need to put on weight first. Lachlan spent the next 7 weeks in hospital, being fed by tubes, just trying to put on weight. Once he reached his ‘target’ weight, he was assessed for surgery, where they found the hole had reduced enough that he would no longer need surgery, and could just be monitored.
Fast forward to February 2018, when Lachlan began daycare. He was excellent at drop off and adjusted really well. On his 4th day of daycare however, he was distraught when we picked him up. He did not want to be moved, and was just absolutely inconsolable. We took him to hospital that night and was told he had some kind of viral infection, and sent home. He barely slept at all that night, he would scream every time he moved, or we tried to move him. Even his beloved baths couldnt calm him down. The next day we again presented to hospital. This time we were admitted for observation. That night, Lachlans dad was changing his nappy, when he noticed his leg was very swollen and firm. We were rushed in for Xrays, and found out Lachlan had a spiral fracture in his left Femur. This was a huge shock. We were transferred to the childrens hospital where Lachlan soent the next week in traction, and we were investigated by police and Child Safety for child abuse. It was ruled that the injury occured at daycare and we were able to take Lachlan home with us about 10 days after being admitted to hospital. He was placed in a spica cast for about 5 weeks, and withdrawn from daycare.
Throughout the following winter season (June/July) Lachlan was admitted to hospital 4 times in 6 weeks for a variety of illnesses including, Gastro, Bronchiolitis, RSV and Pneumonia, and somewhere in amongst all of that, he was also diagnosed with Hydrocephalus, which is enlarged ventricles on his brain. All of this took a huge toll on all of us, and we made the decision to move 15 hours south, back to our home town where we had family support.
Fast forward to November 2018, Lachlan had just learnt to crawl, and while crawling across the floor, suddenly stopped weight bearing on one arm. We took him to hospital, even though he didnt seem to be in any pain, Xrays were done, and he had a greenstick fracture in his left arm. Again, the hospital reported this injury to Child Safety and we went through the process again of being investigated for abuse. Again, they found no evidence of abuse, in fact quite the opposite. We were also referred to the childrens hospital in Sydney (5 hours away) to investigate the potential fragility of his bones.
The 4 months from November to February, saw Lachlan fracture 4 long bones, all with minimal or no trauma. In January 2019, we attended our appointment at Westmead Childrens hospital and Lachlan was clinically diagnosed with Osteogenesis Imperfecta Type 1. We were somewhat relieved at this diagnosis, as now it would mean we would no longer be accused of child abuse, and Lachlan could start receiving treatment to strengthen his bones. Type 1 is the mild type of Osteogenesis Imperfecta, so we found comfort in the fact that it could have been worse. The Doctors performed some routine blood tests on all of us to confirm his type of OI and to determine whether there was a risk of any future children having the same condition. This is where the plot thickens.
The gene that is usually impacted by Osteogenesis Imperfecta is the COL1A1 gene, this is responsible for collagen production/quality/quantity. Usually they find an abnormality with this gene but in Lachlans case, this gene was missing altogether. So they bagan wider spectrum genetic testing, and found that Lachlan is actually missing a string of 48 genes.
The next 12 months or so involved a lot of genetic counselling and getting involved with Local therapy services including physiotherapy, speech therapy and Occupational therapy. Lachlan also began his bone treatment of a medication called Pamidronate, which is given every 8 weeks via IV. Which meant that every 8 weeks, Lachlan spent a day in hospital ro have this administered. This was quite traumatic for Lachlan, having so many needles and IVs placed, some of which took 3-4 goes to place properly. The decision was made to try and reduce the trauma to Lachlan, we would change his medication to a drug called Zoledronate, which is administered every 6 months, instead of 8 weeks. This has been life changing for us, our lives are no longer revolving around an 8 week schedule, and we get some normality.
To us, the full extent of his extensive gene deletion remains quite unknown. We know he has/will continue to have a learning disability, this is quite obvious, especially now that he is expected to be talking properly. We know that the gene deletion is what has caused him to have white blonde, tight ringlet hair when both his Dad and I have dark brown, straight hair. We know he will have dental issues, as well as the issues that come along with Osteogenesis Imperfecta, the fractures, the respiratory issues, the hearing loss. It is a learning curve for everyone, everyday.
Despite all of his challenges, Lachlan is one of the happiest little boys ive ever met, and he has a pain threshold that at times, scares me. He is so resilient, and no doubt, will continue to thrive no matter what is thrown at him.