Lachlan's journey, as told by his Mum Ellen.
Our beautiful boy Lachlan was born on the 20th of December 2021 in Wollongong Hospital.
Once he was born it was evident there was a problem. What that problem was at that point was still a mystery.
It was believed that Lachlan was having respiratory issues as his oxygen levels were fluctuating all over the place and nobody could understand what was happening. Lachlan was put on C pap and remained in the nursery for two days being monitored and then it was decided that he was to be sent to Royal Women’s Hospital in Randwick to the NICU for closer observation.
Lachlan was sent back to Wollongong Hospital at 2 days old knowing it was respiratory issues but the reasoning for this was still unknown.
Lachlan’s breathing remained the same and was not improving so he was returned to the Royal Women’s Hospital to be closely monitored. Lachlan remained in the NICU for a couple of weeks and then was transferred across to Randwick Children’s Hospital where he remained for four months until returning to the Children’s Hospital in Wollongong for a further six weeks until it was worked out for Lachlan to finally go home.
Whilst Lachlan was in the NICU in the Royal Women’s he was hooked up to breathing machines, pulse oximeters, blood pressure machines, and at this point a nasogastric tube had been inserted into Lachlan’s nose as he was having difficulty being breast fed as well as bottle fed.
He was being fed small amounts of breast milk via a pump through the nasogastric tube.
For the first two weeks myself and Gavin were unable to hold Lachlan as he would fatigue easily as he would sleep most of the day and when he was awake it was for very short periods of time.
Lachlan was transferred to the ICU at Randwick children’s hospital to be monitored for closer observation. He remained here until he became stable on the C pap and was then transferred to the Children’s ward in Randwick.
Gavin would come to Randwick on the weekends after his working week to spend the weekends with Lachlan on the ward to relieve me so I could return home to see my eldest son Oliver (9) who missed us greatly who was staying between my mother and sister at the time.
Lachlan had many blood tests, ECG’s you name it. Blood was also taken from both parents to test.
However everything kept coming back normal.
Finally at 5 weeks old Lachlan was diagnosed by a genetic team with a condition called PURA Syndrome. I am happy the genetic team found out what was going on with our little boy but at the same time it was a kick in the guts.
Pura syndrome is a neurodevelopmental disorder characterised by developmental delay, speech delay, hypotonia (muscle weakness), epilepsy, failure to thrive, excessive sleepiness, breathing and feeding issues, walking, rolling, sitting and other anomalies.
Pura syndrome is caused by a mutation in the PURA gene which is located on chromosome 5. It was first described in medical literature in 2014. To date we currently have 706 children worldwide affected with this condition.
Whilst Lachlan was in the children’s ward in Randwick we had to learn how to nasogastric feed and all the other things that go along with being able to feed a baby safely this way.
Lachlan was trialed on a few respiratory devices and he was responding well to high flow which is a device that is generally used within the hospital setting and not the home setting.
Lachlan was closely monitored over the few months that he was in the children’s ward. He became VIP and the nurses in the ward became very fond of him. We continued to have neurology input and other professionals learning from Lachlan and this rare condition.
The doctors would do their rounds every morning, I asked one morning if Lachlan was stable to be send back to Wollongong closer to home.
After a week the doctors and other disciplines were happy to discharge Lachlan back to Wollongong hospital.
As time went on Lachlan would make small changes. we now call this “inch stones”.
He would start lifting his head, be more awake, he would move his arms and legs a bit more.
Whilst an inpatient he was getting frequent visits from the dietician, occupational therapist, physiotherapist, speech therapist and the social worker.
Over the six weeks of Lachlan being in the Wollongong hospital he started tolerating feeds better, managing well with the respiratory device off during the day and then back on at night.
Lachlan was finally allowed to go home at 5 months old with a team from the hospital coming out checking on him and the family to make sure we were managing. It was tough but we made it.
Lachlan is under a huge medical team between Wollongong and Randwick Children’s Hospital.
We had a lot of visits to the children’s outpatient clinic in Wollongong when Lachlan decided he wanted to pull out his nasogastric tube or inpatient stays if Lachlan got sick. Lachlan also become loved in Wollongong Children’s ward always getting many cuddles.
Lachlan got a percutaneous endoscopic tube (PEG) in 2022 which is a tube that passes into the stomach so he can be fed.
We have recently returned from Melbourne where we met other families and their children have also been diagnosed with PURA syndrome.
Lachlan is a very happy and special little boy who is loved by many. We have learnt to take the small wins when we can.
Lachlan loves his brother Oliver (9) and Henry (1)
