MND Genies: Advocating and raising awareness of familial MND

Published: November 2019

Kaitlin Ellis, one of the founding members of the MND Genies, and her sister Jessica, recently joined MND Australia and MND NSW at Parliament House in Canberra to speak with federal politicians about improving the lives of people dealing with familial MND.

This was Kaitlin's first time advocating for the cause in the nation’s capital.

In this story, Kaitlin reflects on the experience and the role of the MND Genies in supporting people who have an MND related genetic mutation.

Kaitlin also shared with us why she won’t rest until more action is taken to help stop familial MND.

Who are the MND Genies?

The MND Genies were established when my sister Jessica and I, who both carry the familial MND C9orf72 gene, randomly met Rebecca Young, who also has a familial MND gene, SOD1.

When we met, we instantly felt a connection that no-one else was able to relate to. It is very daunting knowing you have an MND-related faulty gene – the chance of getting MND is very high, and you may also suffer the way your loved one did. We felt like we were sitting ducks waiting for the gene to activate.

We approached the MND association of NSW in the hope of starting a support group for familial MND. There were services available that supported people living with MND, but there was nothing for those who have been diagnosed with a MND-related genetic mutation. MND NSW helped us start MND Genies.

MND Genies is a closed Facebook group for people, living in Australia or New Zealand, who have a motor neurone disease related genetic mutation, but do not have MND. MND Genies provides a forum for participants to connect with each other and share their knowledge and experiences with others who have an MND related genetic mutation.

MND Genies aim to support, inform and advocate for familial MND. Only 10% of MND cases are hereditary, and from that 10% of cases, the MND-related genetic mutation can be passed on. Children of parents with familial MND have a 50% chance of inheriting the genetic mutation.

Facing the hard reality of familial MND

When a family member is diagnosed with MND it is devasting. It is just like being given a life sentence. Watching that loved one live with MND is one of the most challenging and rewarding experiences you can go through. You support that family member all the way up until the end, creating memories to last a lifetime.

Once they have passed, you think you are free from MND. But then you’re told that around 10% of cases are hereditary and that your loved one was one of those 10%.

It is emotionally exhausting knowing one day you may have the same outcome as your family member and at this time there is no cure or a way to turn off the gene. You feel like a sitting duck and every trip, fall or slight weakness triggers thoughts that the time has come for you to fight the disease. This can be very frightening.

The emotional aspect is not the only challenge facing people who are part of the MND Genies. Over the years, MND has become more known in the public media and the average person has an understanding of what this horrendous disease entails. At the same time, in my journey, I have found that people are shocked to learn that this horrible disease can be hereditary. This is why raising awareness for familial MND is so important.

We are only a small percentage compared to the 90% of cases diagnosed with sporadic MND. Knowing you carry a familial MND gene allows you to plan for the future, especially for female members planning for a family. In Vitro Fertilisation (IVF) treatment allows for the familial gene to not be passed onto future generations.

Taking action on familial MND in the nation’s capital

In October of 2019, Jessica and I were asked to visit Parliament House with MND Australia and MND NSW, and to share our experiences living with familial MND gene mutations.

My sister and I were diagnosed with the C9orf72 gene in 2015, shortly after our mother was diagnosed with MND. We talked about this experience and the MND Genies with politicians at Parliament House, to help raise awareness for familial MND. We wanted to open their minds and get them to help us fight for access to services for people living with MND and for IVF and genetic testing.

Having political support will help gain access to funding for families who choose to undertake IVF and pre-implantation genetic diagnosis, allowing them to potentially stop MND in its tracks and theoretically helping to eliminate familial MND in the future.

We first met with Shadow Minister for Ageing & Seniors and Shadow Minister for Women, Hon Julie Collins MP. During the meeting we were able to highlight our experiences with caring for our mum who had MND, and the challenges we may have faced if she were any older.

We would not have been able to support our mum as long as we did without the financial support from the Government (NDIS) and support from MND NSW. It was a good opportunity to highlight the downfalls of the system, and how fast-tracked Aged Care packages will support older people living with MND (people aged 65 years and older who cannot access the NDIS).

The second meeting we had was with Hon Alex Hawke MP, who is Minister for International Development and the Pacific, and a friend and supporter of MND Australia. We discussed the same points as we did with Julie Collins, and Alex Hawke advised us on how to go about getting funding put into the budget. He was intrigued to hear the MND Genies stories and thanked us for being brave enough to be advocates for MND.

Our last meeting was with Kylie Wright, the Advisor to the Health Minster, Hon Greg Hunt MP. We spoke with her about genetic testing and we were able to advocate for genetic services and access to IVF.

For us, going through genetic testing right after our mum was diagnosed was a devastating process and we had no continual support. Everyone just believed us when we said we were fine, but in hindsight, we weren’t. We ignored the fact that we had the gene for 2 years and when our mum passed, the realisation that we had a gene for MND came crashing down on us.

We advocated for more emotional and financial support around this issue, so people are more inclined to get genetic testing. As hard as it is, more support will help in the future for familial MND. Kylie Wright was very intrigued and listened to what we had to say about our experience, and our ideas for going forward with family planning.

Personally, meeting with the politicians was a very surreal experience. It was valuable talking to people who were interested in helping our cause, important to us to raise awareness for familial MND, and highlight the challenges we have faced with living with a familial MND gene. The fight for us never stopped once our family members died from MND, hence why it is important to stop the process of familial MND.

Changes to Aged Care packages and subsidised IVF treatment the way forward for familial MND

Meeting with the politicians at Parliament House was also such a privilege. Being able to share our experiences with MND, it enabled us to connect with the politicians on a personal level, which will hopefully help them to further understand the implications MND has for people and families, and bring on change to the Aged Care packages for people living with MND over the age of 65. There is also hope that there will be change regarding the subsidised process for IVF treatment for family planning involving people with MND or any other genetic mutations.

For us Genies, will we continue to fight, inform and raise awareness for familial MND and the stigma around genetic testing. We will continue to push politicians to their limits until action is taken on a political level to make change regarding MND and families. We will also continue to be involved with fundraising for MND until a cure is found for this viscous disease.

In addition to her work with the MND genies, Kaitlin Ellis has just graduated from university as a Registered Nurse. Caring for her mother with MND has taught Kaitlin many things, and made her the nurse she is today. Kaitlin hopes to one day be able to work in palliative care as she believes that’s when people are most vulnerable and need the best care.