At 11 months old on 19 Feb 2014 Kush had his first Grand mal seizure which lasted about 4 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. At hospital they did EEG and found epileptic discharges and some abnormal brain activity. Kush was admitted and was put on anti-seizure meds.
Then after about 2 months in April 2014 he started getting infantile spasms so he was then put on steroids (Redepred). The plan was to keep him on these for 2 weeks and then wean him off after introducing other Anti epileptics. He ended up being on steroids for over 6 months. He went through episodes of steroid rage which if you have experienced this is absolutely not fun. I (Vivek) can remember holding him in my hands and he was kicking and screaming with the power of a horse literally for 4 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 human body is a truly amazing machine in its abilities. Also they say what doesn’t kill you only makes you stronger. We were in and out of the hospital, on multiple occasions staying for weeks at a time. For a Period Hospital was Kush’s second home. Based on our initial consultation with the Geneticist, before leaving for India, she thought that Kush had an obvious genetic disorder but upon Kush’s physical exam and all the previous tests, the results came back negative. So this time around our Neurologist wanted to do some specific tests which included 75 other genes known to cause developmental delay.
The steroids were however causing a host of other issues. He was getting do badly constipate that he would’nt go be able to pass poo for upto a week. We risked dehydrating him by giving him suppositories. While he was slowly weaned off the steroids, he was put on high dozes of antiepelliptics to manage the seizures, it was a balancing act to not have the seizures but to keep him awake and alert. The antiepelliptics were however putting him to sleep for 16 to 18 hours a day. His coreoformic movements and sedatives were not allowing him to get much development happening.
In the meantime, we had been in touch with An ayurvedic doctor and had started some Ayurvedic medicine that dramatically improved his constipation. We in the meantime also October of 2014 decided to go to India to see an Ayurvedic doctor. After a quick rushed three week trip to India we returned with a suitcase full of Ayurvedic medicine. We also managed to see a Neurosuergon in India who suggested an alternative non drowsy Anti Epilleptic – Lamitrogen. Upon our return we switched him to Lamitrogene. His seizures were better controlled. We were down from 5 medicines at the peak to a more manageable two.
We nearly waited 4 and half months for the results of the second Genetic tests. One day in March 2015, earlier this year (seems like a life time ago) our Neurologist called and told us that they had found the cause of Kushagra’ s overall global developmental delay and wanted to get us in the clinic to discuss the results. Finally , after 18 months of testing and investigation, we were told that Kush has a mutation on his FoxG1 gene. Kushagra 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 we (parents) nor his siblings exhibit the characteristics. Finally we had an answer for his condition.
This is a link to a very big seizure we recorded for the doctors . This is NOT for the faint hearted. But this is the real struggle that parents go through everday. Kush is fighting for this NOT to happen to anyone else. I would strongly encourage you to NOT see this. This is NOT happening to Kush now, but he was going through these not that long ago.