The challenge is a 4 day ride, starting in Venice and finishing in Milan.. totalling 392km. Day 1 Venice - San Bonifacio 109km. Day 2 San Bonfacio - Polpenazze Del Garda 92km. Day 3 Polpenazze Del Garda - Sulzano 92 km. Day 4 Sulzano - Milan 99km. 

Sophie is the mother of Margot, diagnosed aged nine months with a rare degenerative genetic condition called Cockayne Syndrome (CS - see bottom of text for more info). Vicci worked as Margot’s Portage Home Visitor for a year and has remained close with the whole family. Both Sophie and Vicci are keen athletes who craved the next adventure - this charity bike ride is the perfect challenge in so many ways.

When Margot was diagnosed with the life-shortening condition, her parents made contact with the only organisation in the U.K. who could help - Amy and Friends. This charity was set up by a mother whose daughter, Amy, had CS. Sadly Amy died on New Years Day this year. The incredible work of the charity will continue in her name, touching the lives of many more ‘friends’ to come. 

Apart from helping newly diagnosed families to feel less alone and afraid, Amy and Friends runs sibling groups to support brothers and sisters with the massive challenge of having a  sibling with such complex needs and shortened lifespan, a Facebook page constantly updated with messages of support and encouragement, a private forum to share medical advice and care management tips, a monthly clinic at St Guys and Thomas Hospital in London, research into management and treatment of CS and TTD (related genetic condition), and perhaps most important of all, runs an annual conference to which all families with a child diagnosed with CS or TTD or both, can come together and feel supported, share stories, have fun and honour the memories of children who have passed. 

This charity needs much support to continue helping the children new to the diagnosis and those already diagnosed, along with families who have already lost a child to CS/TTD. 

Riding from Venice to Milan is hugely exciting for us both but is for sure our biggest event yet. We hope by doing this we can raise some awareness of the charity, and help a little by raising some much needed funds to go towards continuing research and the support offered by Amy and Friends to families in need . 

Margot’s Story told by parents:

At one day old we were told by doctors that Margot could not see like ‘normal children’; she had been born with double cataracts requiring TEN eye surgeries before her first birthday, the first of which took place when she was just six weeks old. Since a couple of months old she has worn contact lenses which we take in and out daily. This has not been an easy journey! She is super brave and tolerates this well after all the practice. No one knows what she can actually see, but it is likely to be mostly blurry.  She has eye checkups monthly and has a high risk of glaucoma which is being monitored. She rocks a range of sunglasses in all weathers!

At two days old we were told Margot couldn’t hear properly; she was subjected to multiple audiology tests and finally - aged a couple of months old - received hearing aids to help correct her moderate hearing loss. She has new moulds fitted monthly and again, tolerates wearing these well. 

Within her first few months of life it also became apparent that Margot’s head was not growing; she had microcephaly so would always struggle with learning. After considerable difficulties with feeding it was determined that she also had an unsafe swallow and by her first birthday she was fitted with an NG tube to eat, however the fitting of this was so traumatic for Margot due to her small anatomy that medical professionals fast-tracked her for a gastrostomy. Since the age of one she has been fed through a button in her stomach. For a YEAR she was often sick after feeds and at the age of two, after regular changes in medication, feeding regimes and weigh-ins, was approved to go onto a blended diet, which dramatically reduced her daily vomiting. The gastrostomy isn’t without its problems. Margot has had several faulty buttons that have required urgent medical attention to fix, and two which have come out again requiring emergency trips to A&E.

At nine months old we received the devastating news that Margot had tested positive for variations in two of her genes. It meant she met criteria for a diagnosis of Cockayne Syndrome, a rare degenerative genetic syndrome which presented her with a severely shortened life of medical difficulties. It meant Sophie not being able to return to work and our lives changing forever in so many ways. It means a weakened immune system and heightened likelihood of infection. We have had multiple overnight stays in the hospital high dependency unit while medical staff help Margot rehydrate after an illness that would go barely noticed in other children. She is allergic to UV light so the slightest sunburn can cause massive blistering and accelerate her already rapid ageing. Over Christmas and New Year we spent two weeks on the Acute Ward as Margot had Flu and Pneumonia, requiring IV antibiotics, oxygen and daily respiratory physio sessions.

At just under a year old we were told that it was unlikely Margot would walk or even stand; she has hypotonia (low muscle tone) so her body just doesn’t do what she needs it to do. She is on prescription painkillers (alongside a range of other daily medication) as she can get very achey, stiff and sore from her body not being able to move around and stretch as needed. She has short sessions daily in her standing and walking frames but can get very sore and tired.

The prognosis of her syndrome means that things will deteriorate for Margot; her body will age rapidly and eventually give up before the end of her childhood.  We have been warned to expect seizures, strokes, and cancers. She is already being investigated for possible seizure activity. We know her hearing and vision are likely to reduce over time. It is a prognosis we cannot fully accept but the reality of it is there in black and white. A very hard pill to swallow, but Margot is Margot and wouldn’t be her without her syndrome, as cruel as it seems. 

Medical needs aside, Margot is a delightful, lovable and above all happy little girl who loves being around people, having cuddles and doing anything sensory - this is access to her world and her to ours. We have never wanted anyone to feel sorry for Margot and have done our utmost to raise her with a positive, can-do attitude - no victim/disabled mentality here - she is Margot first and foremost, not her syndrome or additional needs. She is the bravest, sweetest and most brilliant little girl we could ever have hoped to have in our family. 

The charity Amy and Friends helped us through the early dark days of diagnosis; the grief and fear and uncertainty. The charity continues to support us to manage Margot’s needs and to help us as a family live as normal life as possible, knowing there are supportive families out there going through the same and offering words of comfort and experience when needed. The time spent with other families at the conference has been truly healing and inspirational, along with meeting the researchers who can make a real difference in the world of treatment. And when the inevitable comes, sad but true, they will be there for us for as long as we need. This charity is very special and very worthy of ongoing support.

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