Sunday, 1 March 2015

Reflecting on Rare Diseases Day 2015 #22q13 @MCRI_for_kids

This weekend we pause to reflect on Rare Diseases Day which aims to raise awareness of rare diseases and conditions which effect members of our community. There isn't much that we can do as a society to "fix" people affected, except support those doctors and researchers that are finding ways to lessen the impact or cure rare diseases.

My son, Nicholas is one of about ~ 1,000 people worldwide (60 in Australia) who has been diagnosed with Phelan-McDermid Syndrome (22q13); a chromosomal deletion that effects the brains ability to produce the protein needed for long term memory and cognitive development.

As the costs of genetic screening becomes cheaper and more sophisticated, the ability for us to identify why children are developmentally delayed becomes easier. So cases like Nicholas' will become more common place in the future, rather than lumping them all under the "Autism" banner.

Nicholas has just turned four, and he is non-verbal which means that he finds it hard to communicate. His low muscle tone makes it hard for him to physically do sign language (Makaton) and his issue with memory means that he basically just can't remember. He has low muscle tone and auditory processing issues. Many of his habits manifest as what would traditionally be described as low-functioning autism.

He gets exhausted very quickly and has just dropped his 2-3 hour daytime nap. There are some physical issues along with increased risk of kidney challenges in his future. I am sure that you can google all the details if you want them.

Currently there are many 'institutes' in second world countries that offer stem cell therapy for children such as Nicholas. But the landscape is a bit of a 'wild west' with un-FDA approved clinics offering cell reprogramming that costs the earth. There are currently a number of hospitals looking into cell re-programming because there are implications for dementia patients.

Children such as Nicholas, will be less of a burden on Australia's disability support system if we make science and research our priority. Tacking on the label of Science Minister onto the role of the Minister for Industry, is just insulting. I try not to make political statements on this blog, but in this case, our Federal government has it wrong. I encourage you to let your local federal member know how you feel about cuts to Science, Universities and government funded research institutions such as CSIRO in favour of privatisation and the establishment of new private medical research insitutes who will only research if it is commercially viable.

But in the meantime, if you would like to help, please consider donating to the Murdoch Children's Research Institute to support ongoing research for cell and gene therapy to lessen the impact of chromosomal abnormalities.…/…/genetics/cell-gene-therapy

On the Donation page, please mention Nicholas Kammel and then indicate the condition that he has, Phelan McDermid Syndrome or 22q13.

We are very fortunate to have a little boy that gets so much enjoyment out of life and who at least sleeps through the night. He finds great joy in Bubbles and slides, and is totally in love with the "Where is the green sheep?" book by Mem Fox and Judy Horecek at the moment.

He loves his family and he is learning to dance (quite clumsily) to Quando Quando Quando. But at 20 kilo's, he is still very much a dependent and we rely heavily on a pusher when we go out to either restrain him for safety or to push him when he is exhausted. When you pick him up, he goes limp like a rag doll cat, which makes dealing with him 10 times harder if he is uncooperative.

Nicholas will have a wonderful life, as he is oblivious to what is going on around him. 

Please consider donating and writing to your member of parliament.



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