Family Stories

KUSHAGRA SINGHA

PARENTS: MONIKA & VIVEK

Kushagra (Kush) was born on 21 Feb 2013. He is our fourth child. He has two elder brothers and an elder sister. Mom’s pregnancy was uneventful other than diet controlled gestational diabetes. Kush was two weeks overdue. The labour was induced as the midwives noticed he was appearing distressed. He was born after a brief labour of 20 minutes. He passed all his new born tests without a hiccup. His both APGAR scores were 9 (best). He gave a loud shriek in his first few minutes but then settled down. He was 4 kg and 240 gms at birth. A good healthy looking baby and was discharged the third day and everything was normal. The only thing we really noticed in his first few days was that he didn’t want to open his eyes that much and at that time we thought that to be due to his rushed birth.

Blacktown Advocate

He slept a lot in first few days and about three weeks old he started crying inconsolably at night from 9 PM to 3 AM without a break. We took him to the GP and were told that this was colic and is normal.

He saw the GP at least multiple times in his first 6 months. He also had his regular early childhood checks. We raised his shrieking but the practitioner’s response was always that this would go away at around 16 – 18 weeks old. 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. We had 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 we took him out even if it was slightly windy. In hindsight and after speaking to a lot of parents, we now know that this were typical behaviours of a child with FoxG1 condition.

At around 6 months old we were concerned about him not meeting his milestones. He was not rolling over or sitting, poor head control, no weight bearing and no eye contact. If at all he would gaze right through us like we weren’t there. He was overall floppy. So the GP referred us to the Paediatrician. 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 severely wrong with our little 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. We were then referred 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. We knew in our hearts that while he is delayed, he will definitely catch up one day. At the first appointment with Neurologist he pointed out his low muscle tone, head lag and dystonia / coreaformic 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 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/ intellectual disability. We nearly waited 4 and half months for the results. However 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 in March 2015, 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.

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.

Earlier this year, after coming across 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.

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.

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He slept a lot in first few days and about three weeks old he started crying inconsolably at night from 9 PM to 3 AM without a break. We took him to the GP and were told that this was colic and is normal.

He saw the GP at least multiple times in his first 6 months. He also had his regular early childhood checks. We raised his shrieking but the practitioner’s response was always that this would go away at around 16 – 18 weeks old. 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. We had 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 we took him out even if it was slightly windy. In hindsight and after speaking to a lot of parents, we now know that this were typical behaviours of a child with FoxG1 condition.

 

ADAM

MOTHER: DENISE

Adam was born by caesarian July 3, 2003 after a normal pregnancy that lasted 39 weeks. He wasn’t breathing properly at birth and had to be intubated – he spent two weeks in the hospital. During that time he was diagnosed with Bi-Lateral Vocal Cord Palsy (his vocal cords were not opening or closing as they should) but luckily it resolved by itself. He had other breathing issues that led to a diagnosis of Laryngomalacia (floppy trachea) which was aggravated when he got upset and was gasping for air- he still has some mild stridor.

adam picture

From the time Adam came home from the hospital he was always upset; he hardly ever slept and was difficult to feed, nothing like his older brother when he was a baby. At three months they noticed his head wasn’t growing as it should and he was diagnosed with Microcephaly. That led to more tests, including an MRI, EEG etc and they found he had dysgenesis (thinning) of the Corpus Callosum. He didn’t meet any milestones and had global development delay. After many months of Adam screaming and not sleeping, they finally did a PH probe test. It showed severe reflux and he was put on Losec-it made a huge difference and he was finally able settle down. Adam was also very fidgety and was diagnosed with choreoathetosis (involuntary excessive movement); we tried several medications but found they made the movement increase. Adam continues to have extreme movement some days worse than others depending on seizure activity or medication changes.

At seven months they labeled him with Cerebral Palsy as they had no ideas. They went on to test him for multiple things, including Rett, Angelman and ARX syndromes etc and still nothing. We persisted in seeing the genetics doctors (which were great) and we were all keen to continue testing.
Finally after a micro array test in 2009 at the age of six, Adam was diagnosed with 14Q12 micro deletion on part of the FOXG1 gene. Adam does not sit, crawl or walk. He is orally fed but this is a long process and it takes up to an hour to feed him.

Adam’s seizures started at eight months old and he continues to have uncontrolled seizures. We had tried just about all medications. We don’t know if it’s a coincidence but since being on clonazepam he has only had one tonic seizure in six months. During tonics Adam holds his breath and spasms which, needless to say, is very scary. As a result he had many hospital visits when he was younger, and now ha midazolam (an emergency medication and oxygen for any bad episodes. Adam continues to have daily laughing seizures that can last 5 – 10 minutes and is also on Topamax.

Adam is a beautiful, now happy boy who loves interacting with people. He has high muscle tone, tight hamstrings which he has Botox injections for and is still on reflux medication. Adam has a range of equipment that includes a wheelchair, standing frame, walker, hospital bed, shower chair, toilet chair, tumbleform chair and corner chair. Adam is non-verbal but trying to learn the PODD for communication. He uses yes and no symbols well and has a buzzer on the tray of his wheelchair as a way of calling out for the toilet or something else he wants, but this is not always consistent. He has Second Skin Lycra arm splints to help dampen the movement and we are looking into a suit.

Adam attends a main stream school Monday to Thursday; the school has a disabled unit on site. He goes to three mainstream classes a week and loves the kids fussing over him. At this school he also does conductive education. Fridays he goes swimming and Saturday mornings he goes horse-riding. Adam loves music, swimming, shopping and his older brother Justin who is 13.

As we continue this journey we worry what the future will bring, but I also live in hope that there will be something that will help. For us getting rid of seizures would be huge and for Adam to communicate better and tell us what he wants!