Families band together to raise awareness on rare genetic disorder

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In Australia, there are 20 known cases of Pallister-Killian Syndrome with most been diagnosed within the last five years

What is Pallister-Killian Syndrome (PKS)? If this question was to be asked in a quiz competition, it may go unanswered as even most medical professionals have never heard of PKS!

PKS is a rare genetic disorder. It is estimated that there are around 500 to 700 cases of PKS diagnosed worldwide. In Australia, there are about 20 known cases with most been diagnosed within the last five years. It is however suspected that there could be many more undiagnosed cases out there.

Most individuals diagnosed with PKS never learn to walk or talk and remain dependent on others for every aspect of their life such as feeding, grooming, recreation, physical activity, education and personal care.

PKS is characterised by marked hypotonia (floppiness); vision and/or hearing impairment; seizures, sleep apnoea; profound intellectual impairment; sensory processing disorder etc.

As a result of its rarity, very little information and support has been available to the families in the past.

In November 2012, PKS Foundation of Australia (PKSFA) was established by three PKS families to provide help with and support to individuals and the families of those diagnosed with PKS; raise awareness about and conduct research into the many of the little-known facets of this disorder.

PKSFA (website: www.pks.org.au) is a not-for-profit organisation, that is 100% volunteer-run and has been established to maximise the quality of life of individuals diagnosed with PKS, by providing financial support with equipment purchase and therapy/respite services; supporting parents and family; promoting research into PKS and raising community awareness about PKS.

“I got on board with PKSFA years ago. I am inspired by the parents and carers who work with these special kids with love and perseverance, even though it is a hard and long journey,” says Nazreen Hameed, a voluntary committee member for PKSFA. “I feel I want to support such people and help them to reach their goal. These kids don’t have a voice of their own and they depend on entirely on families and community for support.”

Each year, the foundation is hoping to give away five grants up to $10,000 and in early 2016 the foundation will be organsing its bi-annual conference in Sydney, which would cost approximately $25000. These conferences are a great opportunity for the PKS families to come together and share their stories, successes etc with each other.

Namita Biswal, who lives in Sydney but is originally from India, has a child, Yash, who has been diagnosed with PKS. Namita is the Secretary of PKSFA and one of its three founding members.

The Indian Sun caught up with Namita to understand the experiences of a family dealing with PKS

 

How has the journey been so far for your family in dealing with Yash’s condition?

This was obviously not something we were prepared for, especially after having a normal pregnancy and delivery. It took us 18 months to get the diagnosis and whilst it was a relief to get a name for the condition my son has, it was very scary and lonely to know that our geneticist wasn’t aware of any other individuals or families impacted by this condition in Australia.

Whatever limited information was available on internet about the condition was very depressing and scary. I was desperate to find others going through the same challenges and after doing a few internet searches I was lucky enough to get in contact with a PKS group in US. They put me in touch with a couple of PKS families in Australia. Back in 2012 there was no support available for PKS families and it was a feeling of sheer isolation for most. At that point, I teamed up with two other PKS families to set up the PKS foundation of Australia. Since then we have been tirelessly trying to create more awareness about the condition; raise funds to support individuals and families impacted by the condition and in future, be in a position to fund research into many of the little known facets of the condition.

 

PKS does not have the same exposure to the public as many other medical conditions. What are your plans to change this?

We have had some coverage through various publications across Australia; a couple of radio and TV interviews and would continue to spread the word as we believe there still are many undiagnosed cases out there. In addition, we are promoting PKS through fundraisers across various states. Last year, a PKS family in Victoria organised a 50km bike ride along the Nepean Highway; in October, a Perth family organised a very successful high tea, and this year in October, we are organising a Bollywood-themed fundraiser in Cherrybrook, Sydney.

 

Is any medical research being done currently to find a cure?

Being a genetic abnormality, PKS is incurable. Families can use early intervention therapies such as physio, OT, speech, and vision therapy to maximise the quality of life of those impacted by this condition. Most current studies have been focused around conditions affecting PKS individuals, such as epilepsy. Many of the studies are looking at what the likely triggers are and how best to treat or prevent recurrence of the seizures.

 

Does the Australian government’s health department recognize the existence of PKS and is there any support available for families?

PKS is a recognized condition and is on the Medicare list, but there is no formal government support for it. However each state does provide services under the banner of a disability. The condition will/may be covered under the NDIS when it is implemented nationwide. Also funding through the Better Start program may be available. No formal organisation exists solely for PKS within Australia except the PKSFA that we set up in 2012. Being such a small cohort it does not attract the emotional support as cancer or other larger debilitating conditions do, with celebrity endorsements. We are working hard at trying to increase the awareness.

 

BOX:

PKS awareness fund-raiser in October

To raise funds and awareness for PKS and its treatment, the team of PKSFA volunteers in NSW led by Namita Biswal and Nazreen Hameed is organising its inaugural fundraiser function called “The Bollywood Mania”, at Iron Bark Community Hall in Cherrybrook on 10 October. This fundraiser promises to be a fun-filled night of Bollywood dance, music, three-course authentic Indian food and heaps of entertainment and prizes, all for the cause of raising much-needed funds for the foundation. The event is expecting over 250 attendees.

To book your tickets, donate online or for more information, visit website www.pks.org.au.

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