November is also Diwali, Celebration of good over evil

November is also Diwali, the celebration of victory over evil. We hope to make a lot of progress in the next year. We would like to share all the developments not only around research around FoxG1 but that other areas of Computing  / Analysis / Genomics research and allied fields that are opening this frontier of Genetic medicine that truly make us believe that a cure for FoxG1 is years and not decades away.

We hope to win this battle over FoxG1 very soon.

November is Diwali
November is Diwali
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What is happening in November

CCPS is helping spread awareness for FoxG1
CCPS is helping spread awareness for FoxG1

Kush’s brothers Pranav (Aadi) 3O and Jayan (Abhay) 1S from CCPS are trying their best to help spread the awareness by inviting their class mates and the whole school to a picnic at the Glenwood lake on the Sunday 22nd November to raise awareness and to  marshall support for the little guy. If you live in this area you are encouraged to come with your picnic basket and stand alongside Kush. He literally needs your support as he cannot stand by himself.

Kush in the Indian Standing Frame

What has happened since the diagnosis?

IFF-AU call to action

We got the diagnosis in March 2015. This was a mixed blessing as the diagnosis was very profoundly saddening , while at the same time also a big relief.

Saddening Imagine what would go through your heart if you found out your son will never be able to walk on his own? Or never be able to talk? We are desperately trying to fight to change this. The science and developments in genomics and research efforts favour us. We believe we will be able to find a cure very soon.

Relief However the diagnosis was a big relief as we now knew the underlying cause. We knew the enemy that we were up against. Getting the diagnosis was also able to give us many answers and get us connected with other parents.

Earlier this year, after coming across the FoxG1.com website and the IFF Facebook parents group, we connected with Jane another mother of a FoxG1 boy from Nowra NSW Australia who 11 years old. He is in mainstream school and in his age appropriate classes. We shared our story with her and the conversation was the biggest relief for us having for the first time, being able to connect with someone who truly understood and had exactly lived through what we were going through. The conversation was almost like reviewing her life to how she felt when her son was two. The conversation was almost like reviewing her life to how she felt when her son was two.

Being a single gene disorder, we are very hopeful that a cure will be found shortly. We would welcome you to join our journey to find a cure for Kush. We feel we are truly lucky to be able to get the diagnosis so quickly and to be able to connect to other families and understanding our predicament more wholly.

This (Rett Mouse reversal)  is a link to what research has come up with for a mouse with Rett Syndrome which is very similar to FoxG1. We invite everyone to please join us in our journey to overcome FoxG1 and help other children like Kush, please visit FoxG1.com or contact Kush’s dad Vivek(me) to help in any way you can +61 433 806 830.

What keeps us going is the determination to help others like Kush and work towards finding a cure for FoxG1. What IFF Kush can walk and talk and toboggan and surf and run.

Well that being said – For the past 6 months of his life Kush has been the best we have seen him. He is a very happy little boy. He eats orally, he is spoon fed pureed foods and is maintaining age appropriate weight. He 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. He laughs and smiles a lot he has a very happy disposition. His laugh is contagious and is the sweetest sound in the world.

From his first seizure to the day of the diagnosis

Kush having a seizure
Kush having a seizure

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.

Paediatricians visit – Something is not right

Kush and all kids

At about 7 months old we had his first appointment with Paediatrician on 26 Sep 2013 and that day was the worst day for us – having our world shattered with the reality that there was something very maybe severely wrong with our little precious baby. While the paediatrician was examining him, he said that his head circumference was small, he had poor head control, was not tracking visually and the list goes on. He said there might be something severely wrong with him but he doesn’t know. He referred Kush to Neurology at the Children’s Hospital at Westmead, Physio therapy in hospital, Genetics clinic, Ophthalmologist, and booked for a Brain MRI.

The referral papers mentioned Microcephaly and suspected Angelman Syndrome. The search results that came up with google scared the hell out of us.

I remember when we walked out of his clinic and back into the car, I said to Monika that everything will be ok, that Kush is going to be just fine, and that when he is 20 years old we are going to say how lucky we are to have a child like him. In fact he is going to be our best child.

Sometimes doctors are good professionally but are very poor people people. This paediatrician was the same. He spelled out things very matter of factly with no sensitivities or hope or anything. He really shared whatever he thought very poorly and we thought him to be a very rude man for saying it the way he did. To give him credit he said it as he saw it and did his best to refer us to all the right places.

We knew in our hearts that while he is delayed, he will definitely catch up one day. At the first appointment with Neurologist a couple of months later he pointed out his low muscle tone, head lag and dystonia / coreaformic movements. They knew something was not right but could not give us a diagnosis for it. This began our 18 months search for what was wrong with the little man Kush. We went through numerous blood tests and a couple of lumbar punctures and MRI’s and literally dozens of EEG’s. The cause was hard to nail. We knew that something is off with Kush but the tests kept coming normal.

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.

Kush’s first few months

Kush had a rushed birth, I think his heart rate was fluctuating and so the midwives thought he may be in a bit of distress. The labour was 15 minutes. Things got so rushed very quickly.The fetal heart rate monitor was not picking up  good signal and they were having trouble putting the probe that picks up the heart rate from the baby’s scalp. The midwife got very aggressive in pulling out the little guy. He had a lot of bruising around his face and eyes when he was first born. The first few days or maybe the first week he would find it very hard to open his eyes. We thought this was due to the rushed birth. He was the cutest happiest most content baby ever.

Kush newborn

Feeding was slightly tricky but then all mothers know boys are hard to train for anything. He had a bit of a jaundice but then again that’s mostly normally expected in kids. His first few months were not unusually different from any other toddler. he would be just a tad slow to open his eyes, and just a tad shy when trying to gaze into his eyes. Except for this he was the usual baby some troubles feeding, lots of poo nappies and the usual disturbed sleep. He was our fourth baby, so we had seen most of all the dramas the kids could throw and the usual attention they needed for everything. He would, during the days, be so well behaved that, we were happy after three noisy babies he was the quiet content one. We thought that he was enjoying all the attention around him and is passively happy with  the activity around him.

He had a bout of a croupy cough when he was three months and we took him to the GP and then the Westmead children’s hospital. No one raised any alarms for anything in all this time. All this time he was also being looked at by the early childhood nurses and was doing fine in all his tests. We really didn’t have any concerns except that some nights he just would be very hard to settle.

It was when he turned 6 months that we thought that we should show him to the doctors to see why he wasn’t making eye contact, I had looked up the internet to see avoiding eye contact and it seemed to indicate avoiding eye contact was linked to Autism. We knew his sight was ok as he would gaze at objects and would look the other way if you looked at him. We took him to the GP and she said all seemed fine, however if we were keen we could go to a paediatrician. We said might just to see what he says, but still had no real worries, except the small delay and the eye contact avoidance.

November is Foxg1 awareness month- Where is Kush

I am starting this blog to document our Journey with Kush.

Kush Best Smile

Kush is our fourth child. He was born on the 21st of February, was a full term baby was over due by about a 10 days.

My name is Vivek and I am his father and am writing this blog to capture my trials and tribulations along the journey. Earlier in his pregnancy the calculated due date was 11th of February. I was so hoping that he be born on the Valentines day and be a normal baby like the other kids.

My great grandfather was an American the famous Satyanand Stokes who had come to India in the early 1900’s as a Missionary to save the ignorant world by converting them to Christianity, however he had ended up staying in India and himself converting to Hinduism. I say this as somewhere deep in my heart I was somehow hoping that this little bundle of Joy have blond hair and blue eyes. This was not to be. I had been secretly desiring this (american looks) for all of our previous kids as well. He was destined to look as ugly, or if I push it, I might say just as cute as me.

The birth process was a little quicker than normal, I must also add that everything leading up to the birth process was very normal, in fact the midwives were quiet confident that this being Monika’s fourth pregnancy and with no family history of any alarming issues and with three normal (noisy fussy annoying fighting screaming) kids, they did not see any causes for concern at all. We were in the public system and did whatever tests were advised of us.

I know specifically the 12 week Nuchul Translucency scan, as we couldn’t get the bookings in the Public system, we took an appointment in a private facility and paid like 300 $ for a scan, whereas in the public hospitals with the other three kids we were able to get the same test in less than a hundred dollars. We did get a DVD of the scan that we have never seen since.

We had such wonderful experience in the first birth with Aadi, that we could’nt really understand why would anyone need to go for a private birthing. To tell you the truth, maybe for the first birth, we were not rich enough to be able to afford private health Insurance. But despite even that i mean our birthing experience at the Westmead Children’s hospital was really so good that we really felt very lucky to be in this wonderful country with such kind and considerate doctors and nurses throughout our pregnancy, that it was almost as if we were being treated like important people. We almost felt as if we were doing the country a favour by going through the wonderful journey of becoming a parent. It was a nice little surprise that after the baby, the extra 20 dollars were coming in from the government  that paid for the occasional box of nappies.

Mind you I was working two jobs at the time I got the news that Monika was pregnant. I still so clearly remember that day, possibly a Saturday or a Sunday I had done the 4 hours of my security run from Parramatta to Auburn and back to the few buildings in Parramatta and then Back in our little two bedroom apartment on Wigram street Harris Park, where I was ready to put up my shoes for a quick break, before I started my routine of patrolling the buildings again in the SNP Security’s Hyundai Gets if we got lucky, or the Proton hatchback.

That’s when Monika broke the news that she was going to be a mum, that was possibly the single most memorable moment in my life. I was elated to hear the news but also taken aback by the magnitude of the change in out lives from then on. I consider myself normally emotionally to be a very cold person who is normally very indifferent to emotional stimulation. I remember that maybe here was a spring of happiness bursting inside me, and then at the same time and a ton of anxiety, would this baby be ok, normal, healthy, and a ton of other questions, but I shrugged off a cool thank you to Monika and a quick congratulations.

 Let me explain to myself my journey till the birth of my first son.

I was born in India to an Mother who was a Doctor and a Father who was an Engineer and a commissioned officer in the Indian Army corps of Engineers, I have hazy memories of my early childhood years a few things that come to mind. My earliest memory is of the one day that I was off to Gurukul near Chandimandir, I must have been 2 – 3 years then.

For some reason I do not recollect seeing my mom ever, except this one time that I have memories of being in this hospital, the things I can remember are that the car was parked under a tree and there was this squirrels climbing up and down the trees and i can still see some Bougainvillea flowers near where we were parked. I remember walking through a long hall way that was painted very clean and had rooms on either sides, I remember mom was on a bed with tubes up her nose lying on a very clean room, and can almost see her smile softly at me, I must have been there may be two minutes and the next thing I remember was running down the corridors with I don’t know who, maybe my sister could be someone else, who knew  a room where there were pure white Rabbits in a cage. the rabbits had red eyes and I can remember that we could poke our fingers through the cages and could feel their soft furs. I think that day is saved in my memory as a happy day. Looking back in hindsight that was possibly when my little world was falling apart. My mother was dying on the Hospital bed with Cancer. And this innocent little boy was so excited by the sights of the squirrels climbing up and down the trees and the cute soft bunny rabbits in this wonderful hospital. I was born in Dec 1976 and as far as I can vaguely remember my mother passed away  sometime before 1980, about August -September 1979, I was less than three years old then,

There have been times I have missed my mom terribly. Not that many of them, but there have been times. And I can never seem to remember a time where I was being cuddled up closely by her or for that reason by any person. In fact I cannot seem to remember any of my memories from the times of my toddlerhood. I have been told by my dad that I spent a lot of time in the back of our Standard Companion station wagon. I cant seem to remember any of them. I do not remember having any memories of seeing or knowing that my mom had passed away, or of any funerals or of any mournings. I just seem to have a blank in my head. Sometimes I so wish I could remember what it had been like in my first two or three years of my life.

One memory  very clearly have is that one day in the Chandimandir Cantonment we had for some reason gone to the house of Kanta Aunty, I can remember there were these two elder boys there and the three or four of us ran out of their house and climbed into this army vehicle that was a Nissan 1Ton. The elder of the boys planted himself on the drivers seat and took out the ignition key from the sunvisor flap and put it in the ignition key. I was dumbstruck and asked him how he knew where the key was kept and he matter of factly told me that all army drivers always kept their keys there. I think he cranked the ignition, the vehicle was in gear and rolled a bit and we had adrealine pumping through my tiny body and we jumped out of the truck and ran off. this is a 3 minute clip I have burnt in my head.

Nissan 1Ton

I can also vaguely remember that i used to with somebody in the evenings walk around our house and up the embankment of the Railway over bridge and would put small granite rocks on the train track and see the train drive over the rocks and crush them into powder. We used to be standing not further than 3 feet away from  rumbling locomotive (most likely a steam) or a diesel. We may have at times put coins or soda bottle caps on the track and see them flattened to disks.Chandimandir Railway Bridge

Could this be happening to Kush as well, Could it be that for some reason he is not destined to remember any of his early childhood as well and so he is going to turn out fine just like me (if I am what you would say is fine). I really hope and pray that he does end up being a normal child.