After a fairly uneventful pregnancy, Kush was born two weeks overdue. The labour was induced after midwives noticed the baby was appearing distressed. He appeared a perfectly healthy looking baby, and was discharged from hospital.
Initially, doctors thought Kush had colic when he started inconsolably at night. Parents, Monika and Vivek, spoke to doctors, who assured them his colic would disappear at around 16-18 weeks.
“He would begin with crying then screaming and arching his back and go on for a few hours, arch backwards, stiffen out and in the end his body would become limp and then he would sleep. We tried every possible way to calm him down but it was getting bad to worse.”
Kush nursed well but hated the feeding bottle. His parents tried every bottle in the market but nothing worked. He couldn’t have a bottle and breathe at the same time. He was very floppy and made very little eye contact. He used to hold his breath whenever he was taken out, even if it was slightly windy. We now know that this were typical behaviours of a child with FoxG1 condition.
At around 6 months old, his parents were concerned about him not meeting his milestones. He was not rolling over or sitting, had poor head control, no weight bearing and made no eye contact.
At about 7 months old we had his first appointment with Paediatrician.
“That day was the worst day for us – having our world shattered with the reality that there was something very severely wrong with our little baby.”
The paediatrician said that his head circumference was small, he had poor head control, was not tracking visually; the list went on. He said there might be something severely wrong with him but he was unsure. He was booked in for a brain MRI, and referred to Neurology at the Children’s Hospital at Westmead, the physio therapy in hospital, genetics clinic, and Ophthalmologist.
At the first appointment with Neurologist he pointed out his low muscle tone, head lag and dystonia movements.
“This began our 18 months search for what was wrong with our little boy Kush. We went through countless tests that never turned up any answer. We knew that something is off with Kush but the tests kept coming normal."
At 11 months old, Kush had his first Grand mal seizure which lasted about four minutes.
“This was frightening. He wasn’t breathing for over 2 minutes and his lips turned blue. We thought he was dying and called the ambulance. He was rushed to the ER, where they did EEG and found epileptic discharges and some abnormal brain activity.”
Kush was admitted and was put on anti-seizure meds.
Two months later, he started getting infantile spasms so he was then put on steroids. The plan was to keep him on these for two weeks and then wean him off after introducing other Anti epileptics. He ended up being on steroids for over 6 months.
“I can remember holding him in my hands and he was kicking and screaming with the power of a horse for four hours straight. I was worried that he was exerting so much that he would have a cardiac failure. I alerted the doctors multiple times but was advised there was no danger and it was the steroids kicking in.”
The family was in and out of the hospital, on multiple occasions staying for weeks at a time. For a period, hospital was Kush’s second home. After nearly waited 4 and half months of waiting, the Neurologist told Kush’s parents they had found the cause of his overall global developmental delay.
“In March 2015, after 18 months of testing and investigation, we were told that Kush has a mutation on his FoxG1 gene. Kush has a unique mutation (c.946 del) which has not been reported previously in any database or literature. It is considered a single-point mutation that occurred spontaneously, given that neither parent, nor his siblings, exhibit the characteristics. Finally, we had an answer for his condition."
“This was both a blessing and a curse for us. While our hopes of him being fine were shattered, we suddenly realized the enormity of the diagnosis.”
It took Vivek and Monika a long time to accept the diagnosis.
“We were in denial for a long time. However, as we researched the condition more and more, strong rays of hope started appearing. With advances in genetics and technology, cures for single gene deletions are at the forefront of medical research. Brilliant minds everywhere, including CMRI, are working on cutting edge technologies and working to beat illness and suffering in fundamentally different ways.”
Kush’s parents say he is improving every day. He is a very happy little boy. He eats orally and has recently started rolling from side to side, and can hold his head up most of the time. He also loves to take turns and babbles. He doesn’t sit, walk or talk just yet, but he laughs and smiles a lot - he has a very happy disposition.
In the past 18 months, has slowly been trying to bear weight on his legs while standing in his walker. He is visually tracking so much better. (He is still legally categorised as being blind due to his cortical visual impairment, but it is wonderful to know that he will see and already sees so many things.) His part of the brain that processes visual image signals (visual cortex) from his eyes is slowly maturing and developing and improving.
He loves to try making music on the small keyboard that he has and he is fascinated by bright high contrast books. On his good days, he also loves to take turns and babbles. He doesn’t sit, walk or talk just yet, but he laughs and smiles a lot.
“We are blessed that he has a very happy disposition. What pains us most is that when he does have his bad days he still has seizures and is not able to jump around and play like his other siblings, but with everyone’s help and with the fascinating research at CMRI and other research institutions, we have no doubt he will be one of the reasons for a cure for FoxG1 being developed. His laugh is contagious and is the sweetest sound in the world.”
Being a single gene disorder, his family are very hopeful that a cure will be found. Vivek and Monika are doing everything they can to raise awareness.
“What doesn’t kill you makes you stronger.”