I will be heading to Yorkshire on September 15th to attempt to complete the Yorkshire Three Peaks, 24 miles of pain, to help raise money for my two disabled grandchildren who both have extremely rare genetic conditions. I will be joined on my adventure by my daughter and her husband.
My daughter Victoria set up a fundraising page in 2016 and has been tirelessly campaigning to raise money to help my son and his wife build a house suitable for all of their children’s needs and for the specialist equipment and care that they are both going to need for many years to come.
The support so far has been incredible and over £25k has been raised. Now it is time for Grandad (me!) to do his bit and I hope that you will all take the time to read my family’s story, share it far and wide, and most importantly donate something if you are able.
I have set out below the story so far.
Thanks everyone and wish me luck!
The story so far
Many of you already know the incredible story about my Granddaughter, Mia, and the more recent story of my grandson Charlie. It is quite an unbelievable story and for those of you who haven’t heard, I have tried to set it out in short below which I hope you will take the time to read. The full story can be read on my daughter’s ‘Mia, Charlie and Me’ fundraising page which you can access through the link above.
My Granddaughter Mia
The short story is that my granddaughter was born with a malformed brain as a result of a very rare genetic condition.
Geneticists from Addenbrookes and Peterborough hospitals diagnosed Mia with Coffin-Siris Syndrome in 2016.
Coffin Siris Syndrome is rare disorder affecting only a few hundred people worldwide. There are a number of gene mutations which cause Coffin-Siris. Mia’s affected gene is called SMARCB1 and the specific way hers has mutated is the only recorded case in the world.
More recently (only last month), Mia has been diagnosed with a second genetic condition which was only discovered in 2016 and is yet to be named but is known as PCDH12. Her second genetic condition is the first reported case in Europe and she is one of only four in the world with this gene.
Mia is a very happy child but as she approaches 2 years old her development remains at that of a 2-3month old. She can’t talk, walk, hold her head steady for prolonged periods, can’t roll, sit, crawl, stand etc. She has daily seizures and has only a little understanding of the world around her. Her vision is extremely poor and she is only able to differentiate between light and dark.
She has regular physiotherapy sessions and also has weekly visits from sensory teachers and Portage workers. She attends the Sense hydrotherapy pool and sensory session every week.
Mia now has a special standing frame and soon will require her first wheelchair stroller. It is clear she will require much more equipment and assistance as she grows.
My Grandson Charlie
Charlie was born only a month ago and after Mia, my son and his wife were given the all clear by Drs to go ahead and have a second child. It was confirmed by Drs when he was in the womb that he wouldn’t have any problems like his sister and would be without any disability. Unfortunately after only a few weeks of being born, Charlie started to have fits and it was clear that something was wrong. After brain scans at just a week old, it has been confirmed that Charlie has also been born with a malformed brain and shares the same rare genetic condition (PCDH12) as his sister and he is now the second case reported in Europe.
The future for Charlie is unknown, he is only a month old and it is not currently possible to tell whether he will also have the same difficulties as his sister. Whether he be able to see, walk or talk is not yet known.
One thing is for sure is that both these very special children will require full time care and specialist equipment to help them with their disabilities.
Thank you so much for taking the time to read this and I hope that you are able to support me in my efforts to give my grandchildren the best possible life in the circumstances.
2016 post by Victoria Darby
Mia and Me’
My niece, Mia Victoria Clucas, came bursting into the world on 9 August at 3.51am weighing 8lbs 11oz born to Andrew and Nikki Clucas. The birth was as straightforward as one could hope for and I am told was over relatively quickly! As you can imagine the whole Clucas and Griffin/Jenkins families were completely overjoyed by Mia's arrival.
Many of you will be lucky enough to be a parent, a grandparent, an auntie or uncle, or maybe a cousin that gets to experience the absolute joy and excitement that a new baby brings to a family. There were no exceptions in this case. I will never forget that amazing feeling of seeing my brother with his own little creation and finally I could be the Auntie I always dreamed of being-the fun Auntie obviously!!!
For the first few weeks of her life, my brother and his wife and baby Mia experienced all the normal things newborns and their parents experience; lack of sleep, dirty nappies and the night feed, coupled with feelings of complete and utter devotion and pride with the beautiful little person they had created.
After only a few days of being born, Mia started to have mini seizures. The nurses and health care visitor were not too alarmed by this development and of course, as some of you will know, small seizures in infants is not something which is uncommon. Mr Brother and his wife were however not convinced that all was well and like any concerned parent would do, they took Mia to hospital for a check-up.
In September, only a few weeks old, Mia visited Peterborough hospital where she was born, and Dr Brown a paediatrician specialising in infant epilepsy was called to investigate Mia's seizures. At this stage the whole family were of course worried, but we all had similar thoughts and hopes; perhaps she was having normal baby seizures like the health visitor mentioned, or perhaps worst case she may have epilepsy.
Mia had a number of tests that day in September, including a full brain scan. On the same day she came in for tests, the results came back and Dr Brown came to see my brother and his wife to let them know the outcome. Now anyone who has a child in their life, especially a new born baby, will tell you that the worst thing that you can ever be told is that your child is sick. This is every parent’s worst nightmare.
In some cases there are chances that your child will recover and there is treatment available and there is a good chance that your child will make a full recovery. Sadly for Mia her illness is not something which can be reversed or fixed with treatment.
Mia's brain scans have revealed that she has a significantly malformed brain as a result of a very rare genetic condition. So rare that she may in the future be confirmed as a SWAN. I love this name, because she is, as you will see from her picture above, as beautiful as a Swan. What SWAN actually means is that Mia is likely to be diagnosed with a 'Syndrome without a name' such a rare condition that she may be the only person in the world to have it.
So far doctors have been able to establish that Mia has very limited vision, but it is not yet clear whether she is completely blind. She also has microcephaly which is an abnormal smallness of the head associated with incomplete brain development. She has very limited limb movement (hypertonia) and poor neck and trunk control, which makes her future mobility uncertain and she has confirmed epilepsy which is managed by regular doses of medication. Mia also has no motor skills, meaning she can’t play with toys, feed herself or suck her own hands. At Christmas time an EEG at Addenbrookes also confirmed that she had infantile spasms and she had to undertake an aggressive course of steroids and another drug- meaning she was on four different medications at the same time.
Mia is now the subject of a project called the 100,000 genomes project as the leading neurologists are not able to make sense of her brain scan. There are currently no answers and there may be none for a very long time to come.
There have been some dark days as you can imagine, but now that the whole family have come to terms with the news, all of our energy is now focused on making Mia’s life the absolute best that it can be. She is lucky to be surrounded by truly amazing grandparents, Jill and Dave and Janet and Alan, whose support and love is unbreakable and unfaltering. Andrew and Nikki’s extended family, friends and colleagues have also been a huge support, through what has been a very difficult time. Finally Andrew and Nikki themselves, put quite simply they are my super heroes and they are the most unbelievable parents I know. Their love and support for Mia is unwavering and they will do everything in their power to make Mia’s life as special as she is.
So, now I get to the reason for this page. Whilst Mia’s future is uncertain, what is clear is that this little lady is going to need a huge amount of support in life. Specialist equipment, a new house suitable for a child with severe disabilities, physio to help develop her limbs and full time care. People keep asking me ‘How can I help?’ and believe me I have asked myself that same question every night before I go to sleep. So here is how we can all help, I have set up this page so people can contribute to Mia’s future and help her have everything that she needs to live the best life possible.
To get the ball rolling me and a number of my dearest friends will be running the Rutland Half Marathon in September to raise money. A number of other events will also be arranged throughout the year for this very special little lady and I will keep this page fully loaded with the details. If you are a friend or family member, or even just a stranger, that wants to help raise money through any kind of event, please use this page as your sponsorship page. If you want to contact me to get involved with the events that I am arranging, please contact me on firstname.lastname@example.org and I would be happy to let you know how you can get involved. If you just want to make a donation to this truly amazing little girl, please do so here and leave us a message so we can thank you for your amazing support and kindness.
Thank you for taking the time to read this page and please, if you can spare the time, share Mia’s story far and wide!