In a world where we don’t celebrate our differences enough, these interviews speak openly with families living with rare medical conditions or disabilities. The aim of the series is to raise awareness and show how living with such conditions affect the lives of those diagnosed and their families.
Today we interview Jennifer Jolly who is the mother to an amazing family with a lot of extra challenges. Both herself and her daughter have Waardenburg Syndrome, while her son has such a rare genetic condition it doesn't have a name and is just referred to as RAC1 mutation.
These rare medical conditions make their lives more complex and as her, her husband and her daughter are all profoundly deaf life can be tricky to navigate. However, they still love life and get out for country walks or walks by the beach and love to all go swimming together as a family.
They have a 3 day long Christmas planned with family visits before and after Christmas Day and a calm relaxing time together on Christmas Day, giving all the children enough time and space to open and enjoy presents in the security of their own environment.
We here at Chance Coaching would love to wish them a very happy and enjoyable Merry Christmas.
Tell us a bit about your family?
There are 6 of us, myself, Warren (my hubby) & we have 4 kids - Leo (14), Lucas (11), Reuben (8) & Faith (2). We also have a dog Pepper who is actually a Hearing Dog for the Deaf for myself.
What disability / rare condition are you living with and how do the readers get more information?
Myself & Faith both have Waardenburg Syndrome, for more information click here. We have different symptoms, but one thing we have in common is that we are both profoundly deaf. My husband is also profoundly deaf due to connexon 26.
My son Reuben has an extremely rare syndrome that has no name but just letters & numbers - RAC1 mutation - there is no website to explain it yet as they are currently doing a lot of research into the condition..all we know is that there is no one with the exact mutation, but there are 6 other boys with very similar mutations and they all have brain abnormalites as well as other issues.
You can find out more from my Blog by clicking here
What is your story?
In Reubens case living the unknown is & has been hard as we have no prognosis, no idea what to expect. At the moment he has a severe learning disability, is incontinent, needs help in all aspects of his life and has a list of other issues. But he goes to a fantastic school where he enjoys himself and gets complete support in all areas of his learning.
He can talk but is unable to communicate many things like his school day, his feelings, his likes, his wants etc. He also has a sleep disorder and is often up all hours despite various of medication so I have to be up with him as he needs to be supervised at all times.
Despite all his issues he is such a loving, happy wee boy who finds joy in the simplest of things.
We have a support group called SWAN UK - Syndrome Without A Name, who have been with us since he was a year old. As he has no diagnosis we don’t belong in many other support groups so this is where SWAN comes in. They are an amazing charity and my hope for the future is for him to simply be happy & have support to enable him to live a fulfiled life.
With Faith, as we are deaf, we know what her life will be like, we understand the hardships of communication issues etc. We have a lot of support from professionals to make sure Faith gets the help she needs to communicate with the world around her. She is still quite young and is learning to sign so that she can understand the world around her as her speech is still quite delayed.
She has cochlear implants like us and our hope is for her to be able to learn to speak as well as signing.
Despite all our challenges we still enjoy quality time together. Ruben has a carer for part of the week which allows me to spend time with my older children. We love to do things like board games, shopping, visit cinema or trampoline parks.
We all love to swim, however this takes a bit of extra planning and we only go if we are all together. Its quite difficult to manage the younger ones as Reuben has no sense of danger so needs constant supervision & as Faith is still very young she too isn't very aware of danger, but when we are all in the pool together it is lovely to see all the children enjoying time together.
We love Christmas and despite Ruben not being able to understand the concept, we love to spend the day quietly together to have enough stress free time to enjoy opening and playing with new presents and toys. We then plan to see family before and after Christmas and spread the festivities across a few days.
About Chance Coaching CIC
Chance Coaching is a not-for-profit organisation which provides 1-2-1 life and mindset coaching to women from all backgrounds. Life Coaching teaches clients a new perspective on life and how to approach life with more positivity and reach for the dream.
The profits and funding from our activities goes towards providing coaching and emotional support to families with children with additional needs or disabilities.