So, I am very relieved to finally have the strength to share this with you. The main topics I attended were History of CDKL5, where are the CDD knowledge gaps, gene therapy research updates, the CDKL5 fenfluramine study, ASDs past present and future, movement disorders, self-care for the caregiver and paediatric palliative care in chronic neurological conditions.

Summarising these topics is not a simple process, but I have tried to share what was important to me or what stood out for me and hopefully you all get something out of my talk today. There was also a meet and greet on the first night, a group photo and tribute dinner the following night and lots of opportunities to chat and connect with other families, some only known via online Facebook groups which are a wonderful support to many of us. This conference was also very special for me as I was able to bring my oldest son Javier. This year’s conference included a sibling program and an opportunity for siblings to hang out, connect, share or just be someone to hang out with that ‘gets it’. That’s something that I only feel when I am with families who live with CDD, and I wanted Javi to feel that same connection I do through spending 4 days once every 2 or more years with families just like us. That’s where we are no different or more or less special that anyone else. That’s something we don’t have back home.

Some of the main things I took away from this conference was the current information about Fenfluramine, a repurposed drug with promising efficacy in the CDD population. This drug is currently approved for Lennox Gestalt Syndrome and trials are in progress to hopefully gain approval for its use in CDD. Helen Leonard spoke about Anti-epileptic drugs and their combinations and if there are any combos that might be particularly effective in managing seizures in CDD.

The drugs found to be most useful for people over the age of 1 are: Keppra, Topamax, Sodium Valproate (Epilim), Vigabatrin (Sabril), and Phenobarbitone. The combinations found to be most effective were (in order):
– Epilim + Keppra
– Sabril + Clonazepam
– Keppra + Zonisamide

Interestingly, the findings of this review found 0% side effects from the Zonisamide + Keppra combination.

The movement disorder session was interesting and focused on Chorea and Dystonia. Seeing videos of these disordered movement types clarified they are not part of Raff’s bouts of movement disorder but may be relevant to other people with CDD. One of the take home messages regarding disordered movement was the need to determine how much the movements impact on the individual. The point was made that sometimes these movements serve a purpose like relieving anxiety and trying to limit these movements may be painful for the person involved. If a repetitive movement is potentially harmful or socially inappropriate it will need careful intervention preferably overseen by allied health therapists such as OT and Physio.

Caring for the carer was another session I attended and something that in theory was helpful. As many parents and carers of children and adults with CDD, we all know caring for ourselves is hard to prioritise especially with widespread issues dealing with funding and the NDIS. In my experience this has had a highly negative impact on my capacity, mental and physical health and until something improves here, caring for the carer (or self-health) will be a myth.

I had a long talk with Megan who represented Marinus Pharmaceuticals who have finished the trial of Ganaxolone. This has now been approved under the name Ztalmy and is an oral suspension medication. I believe this is still waiting for approval in Australia but available in the USA.

Lastly, I participated in a session on Paediatric palliative care in chronic neurologic conditions. Many people don’t understand the meaning of palliative care and equate it to end of life care. However, it also means supporting chronically affected individuals that need support maintaining quality of life and who have conditions that cannot be treated or cured. Their health can go up and down and often this process ultimately leads downhill long-term. The difficulties for that person as well as their families and loved ones are ongoing for an indefinite period of time.

Connecting with palliative care services can help support this process and can help coordinate services and get information to assist the person and families with all types of decision making. The facilitator specifically mentioned the tendency of some specialists to suggest a treatment but fail to discuss the full range of pros and cons. The palliative care worker can meet with the family and go through a treatment or procedure in much greater detail and support the family through the decision-making process. 2 websites were mentioned that may be helpful to families in this position. One is Neurojourney: Digital Tools and Resources available 24/7 for families and clinicians caring for a child with severe neurologic Impairment. (neurojourney.org)

The other is the Courageous Parents Network and provides resources and tools for families and others caring for children with serious medical conditions, reflecting the experiences and perspectives of parents and clinicians. They are at courageousparentsnetwork.org and have a mobile app available to download as well. So, in summary, it was another wonderful experience to attend the CDD conference for the 3rd time, made even more special having my oldest son, and Raff’s sibling, in attendance with me. Seeing him get so involved and take away a unique experience was exactly what I had hoped, and I couldn’t have asked for a better outcome especially after a long 6 year wait to get to the USA.

Meeting other families and children with CDD as well as a wide range of specialists, pharmaceutical companies, researchers and therapists was so valuable and rare in itself and I really hope sharing my experience to you all here in Australia has been beneficial. Please reach out to AFCR if you want to connect or have further questions or want to find out more about any of these topics and I will do my best to assist you.