Margot our 1 in a Billion PCH6 Princess - Fighting a rare genetic condition
Help us get Margot moving, and experience life to her fullest potential. We wont stop fighting for what Margot deserves, we know she wont!Canterbury
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!
Sam Toulmin's involvement (page creator)
We are Margot’s parents, Frances and Sam Toulmin - doing our very best for our baby girl.
Use of funds
Any funds received will go towards ongoing therapy costs and to purchase equipment to help Margot continue to enjoy life to the fullest with her friends and family.
Thank you for all your incredible support we have received so far. It’s been great to hear from friends and family near and far and also people we don't know who have got behind Margot’s cause by sharing her story, donating or just reaching out to Sam and I. We are incredibly grateful to each and every one of you. Together this journey is easier, so thank you.
An example of the type of therapy that we do with Margot everyday is the ‘Lotus Sit’ or as we call it ‘the Genie’. It helps to align Margot’s spine and strengthen her core to help build towards allowing her to sit on her own. This type of therapy is called CME (Cuevas Medek Exercise) Therapy which is a technique designed to provoke automatic motor responses. We hope to add more of these CME exercises with intensive therapy sessions once we are able.
Sam is busy training for the Coast to Coast 30km run in February pushing himself just as we push Margot and raising awareness of Margot's condition and other rare genetic conditions along the way. The more people who understand a little about what life is like on this rare journey the more support this rare community will hopefully get one day.
You may wonder why we do so much to get Margot moving when she has such a devastating condition? Well.. the answer is because her condition is so rare no one really knows what her full potential is so we will keep working hard to make sure we achieve that, whatever that looks like. She also had 18 months of her life where she was having 100's of seizures a day, known as Infantile Spasms. Now she is seizure free we are committed to doing as much as we can to retrain her brain. There is lots of research about the brains plasticity or neuroplasticity and using repetitive therapy to learn new things especially in the earlier years of life. We are so grateful to you all for helping us keep striving to get the best for Margot.
Thank you again for getting behind our little girl and our family and believing in us.
The Toulmins xx
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This page was created on 4 Dec 2020 and closes on 8 May 2021.