Margot our 1 in a Billion PCH6 Princess - Fighting a rare genetic condition

Margot, our youngest daughter was born a seemingly healthy, beautiful baby in May 2018. Her first months of life weren't easy with many health issues but in October 2018 our world was flipped upside down when Margot had her first seizure resulting in status epilepticus. We rushed her to hospital where as parents we stood there in absolute shock and disbelief as a team of around 8 doctors and nurses worked frantically to help our tiny almost 5 month old daughter. These were by far the scariest moments of our lives, but in this moment we learnt how much of fighter Margot is and we vowed to never give up fighting with her.

Since the initial week long stay in hospital, Margot has been back dozens of times for tests, treatments and support when she has been unwell. This has normalised a life of reliance on medical professionals which has changed our families lives forever. Over the past 2 years, Margot's health has been up and down as she has trialed over a handful of drugs to try and get control over her hundreds of daily seizures and endured many tests as doctors have searched for answers both in NZ and overseas. We are lucky to have supportive friends and family who have been there for us to look after Margot's big sister Ella (7) and brother Hugo (5), but the emotional, physical and financial toll continues to impact our ability to support Margot.

Through the help of medical professionals around the world and ever improving diagnostic techniques, Margot has been diagnosed with a very rare genetic condition called Pontocerebellar Hypoplasia Type 6 (PCH6). PCH6 has affected every aspect of her development since birth; such as hearing, vision, speech, feeding, movement and control over her body. Margot's future really is uncertain. As the only person in NZ with her condition and around 20 cases reported globally, medical professionals have very little information on what we can expect and there is currently no known treatment. Margot is writing her own story and we are all here with her on this wild ride!

Despite her challenges, Margot has battled on. She is currently seizure free (a miracle in itself!) and despite the global pandemic, Margot has maintained good health in 2020. As parents we are continually looking for ways to support Margot as she grows and ensure she enjoys, and can be included in activities with her older siblings. This is becoming increasingly difficult as she grows bigger and the gap between her age and ability widens.

We are committed to doing everything we can to continue to support Margot to reach every little milestone. We do a home based therapy program with Margot which we learnt in Australia and the progress she has made since we have been doing it is incredibly rewarding. To help keep her moving Margot needs ongoing intensive therapy which is based in Australia, massage to support her high tone, supportive therapies to keep her pain free, specialised equipment, and extra help at home, all of which are costly. Our main goal once the borders are open is for Margot to complete two 3 week intensive therapy blocks of which cost in the order of $10,000 each time plus all associated travel expenses. We also want to be in a position to provide Margot the opportunity to participate in new trial medications that are currently in progress overseas.

We have created this page to not only raise funds so that we can continue to provide Margot with every opportunity to reach her full potential but also to help raise awareness of her condition and other rare disorders.

Thank you for reading Margot's incredible story. Please share her page to help us increase awareness of living with a rare condition and how much it impacts ones life. She's pretty special and totally worth fighting for!