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

Cause page created in the Health category by Sam Toulmin for "Margot Toulmin"

$52,127 donated
Given by 453 generous donors in around 4 months

Help us get Margot moving, and experience life to her fullest potential. We wont stop fighting for what Margot deserves, we know she wont!

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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.

Latest update

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Some positive news in the pipeline!   3 April 2021

Posted by: Sam Toulmin

You may have noticed we have been abit quiet lately. There has been lots happening behind the scenes ontop of daily life!

Earlier this week we met with a lovely lady from Auckland who is looking at doing a Cuevas Medek Exercise (CME) intensive with Margot at the end of April over two weeks. This will help provoke improved postural responses in Margot to promote progress toward developmental milestones and build up her stamina for our next bit of big news...

At the end of July Margot has been chosen to go to Sydney for a NAPA Intensive over three weeks. We are so proud of Margot for being selected as the first recipient of the Wondergirl/Wonderboy Award. She has been gifted this grant by The Wonderboy Trust.

This is such an incredible opportunity for Margot and we can’t wait to see the progress she makes with a lot of hard work in the pipeline. Thank you for choosing Margot!

Lastly we have been fitting in some fun family bike adventures, making memories with this wonderful bike trailer. Margot loves the fresh air, bumps and keeping up with Ella and Hugo.

Sam has still been training hard, hitting the mountains and racking up the kms. Unfortunately the Motatapu Off Road Marathon and all Motatapu events were cancelled in March but he is finishing his challenge that he set himself with the Arrowsmith Off Road Marathon on Saturday 10th April instead. He’s tired and abit over the training (but that’s how we live every day here!) so he’s pushing through. We are proud of you Sam.

If you missed Margots story on Seven Sharp back in February here is the link to check it out.

As always we thank you all for your continued love and support.

This road is not the journey we wished we were traveling but we are humbled by the love and support and village that is around us to help us continue to ensure Margot lives her best life amongst all the challenges that she and our family face. I can’t say it enough, thank you all for getting behind us and believing in Margot. She’s incredible and her laugh is truly one that fills your heart with so much joy. Much love from us all. Xx

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Latest donations

Kristen 1 hour ago
My son also has RARS2 w/ PCH6. Prayers from a small town in Iowa, USA.
Amazing Suz!
Well done!
Way to go Suz!
You're ace! Well done Soooz xxx

Who's involved?

Sam Toulmin's avatar
Created by, and paying to a verified bank account of, Sam Toulmin on behalf of Margot Toulmin

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This page was created on 4 Dec 2020 and closes on 3 Jul 2021.
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