Becoming parents is a remarkable milestone in the life of a couple. The excitement, discomfort, adjustments and accommodations, the planning, happiness, joy and pride is no different be it the first, second, third or fourth child. “The nursery is decorated, the tiny clothes are washed and folded, the hospital bag is packed—and you’re eager to begin your new life with your newest family member! It becomes a life-changing event every time.
The birth of a baby is without doubt a miraculous phenomenon. But can also be riddled with complications and uncertainty. This major life change can rattle relationships, emotions and finances. Becoming a parent is a rewarding experience, but it is not easy as every child is unique. Babies don’t come with instructions and a child’s needs are constantly changing. And if you are parents of a child with special needs this multiplies more than ten-fold. The parents are undoubtedly confronted with bigger challenges to overcome than they ever thought possible.
The world of Science is surging ahead with new inventions and discoveries, and researchers are working hard to find cures and better the treatments already available—all to enhance the quality of human life. One hears about miracles and lifesaving surgeries… it is amazing what science has made possible. But on the flip side, as new treatments come to the fore, there are new disorders and diseases that are affecting human lives and the Rare Genetic Disorders is right up there on top of the list.
There are two Indian families in Sydney whose children have been diagnosed with two very different and rare genetic disorders for both of which there is no cure today—the Biswal family and Singha family. I caught up with both the mothers and while their stories may have many underlying similarities they are very distinct from each other.
Yash is the second child in the Biswal family, his brother who is ten, is three years older than him. Namita’s second pregnancy and delivery seemed very normal with nothing alarming or out of the ordinary. It was only when Yash did not seem to be meeting the normal growth progression milestones, which included his motor and communication skills, that Namita started worrying.
He was referred to Tumbatin, a developmental clinic at the Children’s Hospital in Randwick. The doctors confirmed the parents’ fear and called Yash’s condition Global Developmental Delay—a blanket term coined to classify kids behind their peers in more than two areas of development. This did nothing to the morale of the family who were in a state of shock and disbelief.
A child comes into a family bringing with it many dreams and aspirations for the parents. And as parents they were not ready to cope with the fact that their younger son would never learn to walk or talk, leave aside leading a ‘normal’ independent life. This was the beginning of the long road of challenges that would confront the whole family. The grieving couple were looking for answers and this had a colossal emotional and psychological impact on their way of life. They also had to constantly remind themselves that their four-year-old who was part of the equation needed their attention too.
Namita knew that they had to shake themselves out of this stupor of grief, denial and self-pity and accept the fact that Yash has special needs but he is their baby and perfect in his own unique way. Namita quit her job and spent time looking after Yash and tried everything possible in the hope of giving him the best possible start. They tried it all – speech therapy, hydrotherapy, physiotherapy, occupational therapy, experimental diets, homeopathy, natural therapy, vision therapy and prayers.At the same time, they were also looking for a diagnosis by getting genetic testing done. “All of this took a huge toll on me physically and emotionally. I was burnt out and didn’t have the strength to play with my other son or spend any time with my husband,” says Namita.
The year 2012, the day 28 October and the time 8.30 am is imprinted in Namita’s memory forever – that is when she received a call from geneticist Dr Rani Sachdev. She had diagnosed that Yash had a very rare genetic condition called the Pallister Kilian Syndrome (PKS).
PKS is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal 2. Major symptoms may include a coarse face with a high forehead, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Children with PKS also have moderate to severe intellectual disability and loss of muscle tone.
There is a lot of grief in diagnosis but there is a kind of celebration too. For the Biswals this made Yash’s condition very real, and they knew with only 150 diagnosed cases across the world, with no cure till date, the situation was very grim. But, as a family they were not ready to give up on their child. Namita connected with two other families, one in Victoria and the other in WA.
The fact that theirs was not the only family brought a strange kind of solace. They decided to get together and start an organization to raise awareness and support other families (if any) and also raise funds for research into the little known facets of this condition.
PKS Foundation of Australia (http://www.pks.org.au) is a not for profit aimed at generating awareness about the disorder within the general community and medical professionals; supporting kids and families of those affected by PKS achieve a better quality of life, through therapy and equipment support and generating sufficient resources to fund research into many of unknown facets of this disorder.
Despite all this going on, life couldn’t come to a standstill, and as Yash grew older it was time for him to start school. Namita decided to return to work, which was challenging and difficult. But this was an important step in restoring normalcy into a life that had ‘gone out of whack’! Yash attends Sir Eric Woodward, a school for students with very high needs, where the focus is on ‘his ability’ and not ‘his disability’. He enjoys his routine and is learning new things every day.
Kushagra is three years old, and the fourth child in the Singha family. He has two older brothers and a sister. There was nothing in Monika’s pregnancy too to warn her something may be amiss. It was 26 September, 2013 that the dynamics in the Singha household took a huge turn. When Kush was seven months old, during his first visit to the paediatrician, the parents were informed that there was something severely wrong with their son — his head was very small, he had poor head control and there was no visual tracking amongst other things. They felt the world around them crumble…
No tests could tell them what was wrong with Kushagra. On 19 February 2014, when Kush was 11 months old he had his first seizure, which lasted four minutes. The tests conducted found epileptic discharges and some abnormal activity. The 11- month old baby was put on anti-seizure medications. When after about two months he started getting infantile spasms, the one-year-old was then put on steroids for about 6 months. This period was extremely heart-wrenching for his parents and siblings too.
The initial consultation with the geneticist and the ensuing tests and results did not answer any of their questions. The neurologist conducted some specific tests which included 75 other genes known to cause developmental delay/ intellectual disability. After a four-and-a-half month wait they were told their son had Global Developmental Delay (similar to Yash’s initial diagnosis). But the Singhas were not satisfied with this answer as they knew there was more to it. Finally, in March 2015, after 18 months of testing and investigation, they were told that Kush has a mutation on his FoxG1 gene. He has a unique mutation (c.946 del), something that was not reported previously in any database or literature. It is considered a single-point mutation that occurred spontaneously given that neither his parents nor his siblings exhibited the characteristics. Kush was diagnosed with the FoxG1Syndrome.
FoxG1Syndromeis a rare genetic mutation of the FoxG1 gene that impacts brain development and function. This severe neurological condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of the children may not be able to walk or talk and struggle to communicate their most basic daily needs. FOXG1 Syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Babies and young children with FOXG1 Syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. And hence FOXG1 Syndrome is classified as an Autism Spectrum Disorder.
Kush’s diagnosis seemed to be the impetus the Singhas were waiting for. They spoke to many researchers, doctors, scientists and geneticists who are very positive and all of whom have told the parents that a cure for FoxG1 is possible. In order to make this a reality and to find a cure for their son and other children like him and to raise the awareness of the people about this rare syndrome, they started a foundation ( http://foxg1.org.au/).
They have spoken to immunologists, who are confident that technically a cure is possible. So they have started working with local doctors and researchers and want to get it started as early as possible in the hope to find a cure for FoxG1. Amidst this single-minded dedication, they manage to strike a good balance to ensure that their other children are not neglected. The school-drop offs, the soccer training and dance sessions and the tuitions do take a toll on the parents. But they keep trudging on as they want Kush to enjoy the kind of life his siblings enjoy. They ensure that they spend time as a family.
‘PARENTS NEED TO DISASSOCIATE THE CHILDREN FROM THE DISABILITY’: GENETICIST DR RANI SACHDEV
To understand the situation faced by these parents and the parents of other children who may be diagnosed with rare genetic disorders, I spoke to geneticist and paediatrician Dr Rani Sachdev. When asked if there were any tests that a pregnant mother could undertake to rule any such disorders, Dr Sachdev said that pre-natal screening of all genes is not possible. But if the expectant mother is over 35, all public hospitals conduct a test called the ‘prenatal array’. This test is available to all in the private health system. But even this test may not pick up some very rare chromosomal disorders like PKS.
I also spoke to her about the much talked gene replacement therapy. She said that though this not a new concept, in the last 25 years or so there have been only about ten conditions where this may have worked. She did not want parents to lose hope in the possibility of a treatment but the fact is, she said, “Where there is brain involvement it is 5 to 10 years away.”
The children diagnosed with these rare genetic disorders often have moderate to severe intellectual disability which will make life as an adult very cumbersome. There are psychiatrists who specialise in adult intellectual disability, and so parents must reach out to them for advice and treatments. According to her, parents should not take on the onus for everything and use respite made available through Carers Australia/ Carers NSW for some ‘down time’. (http://www.carersnsw.org.au/)
DR SACHDEV’S ADVICE TO PARENTS
Keep in mind that it is really important to disassociate the children from the disability as the diagnosis does not make them any less of an individual.
When parents have children with special needs, the world can become a lonely place and so they must take care not to isolate or alienate themselves. It is important to find a group that suits the individual’s needs. The local genetic unit will be able to assist them in building those connections.
“A challenging journey but there is help around”
– Namita, mother of Yash
“Isolation is the biggest challenge, so find support”
– Monika, mother of Kushagra
Yash’s and Kush’s are two stories that we know of. Namita and Monika have displayed great courage in their time of adversity. Both families are now anxiously waiting and watching to see what the newly launched National Disability Insurance Scheme brings for them. Namita says, “That is a big unknown and yet to be determined. As Yash’s condition is so rare, there is very little advocacy for it. We are hoping that NDIS will assist Yash and people with similar permanent disabilities by funding some of the therapies/equipment to support his long-term goals of gaining independence in basic like skills. We are hopeful that NDIS will have a positive, long-term impact on the quality of life for Yash and individuals with similar needs,” she says.
There may be other such parents who may be struggling not knowing what to do. There may be days where one feels all alone in one’s struggle. Maybe one has been so busy taking care of the child’s needs, in addition to the rest of the family, that one has not had the opportunity to seek encouragement from those who have trekked a similar road.“This is a challenging journey but there is help and guidance around. Situations like these can take a psychological toll on families and don’t be embarrassed to seek professional help. There are a number of early childhood agencies such as Lifestart Cooperative that can provide various multi-disciplinary therapies and assistance to families awaiting diagnosis or those with recent diagnosis. It is okay to ask family and friends for help and it’s very important to look after yourself,” says Namita.
“Stay strong as there are many advances in science that give real hope for a cure for FoxG1. Always try to connect with other parents and support networks, isolation is the biggest challenge, but once you start sharing the whole world is with you in this and together we will find a cure,” says Monika.
Yash’s and Kush’s story is also a call to the community. Both Namita and Monika concur that friends and community members have helped them with various fundraising events, donating their time, skills and efforts and generating awareness about the condition. But in a land where we are away from our own extended family, we as a community must rally together to offer them the support that could make their lives that much easier—it could be in the form of school runs on certain days or cooking them lunches or dinners, which though insignificant can make a huge difference in their lives. It can get very isolating and tiring to be a carer. If we could also offer them support by giving them a short break from the caring responsibilities or spending some time with them, it would be much appreciated by the families.