“From The Outside Looking In”
I recently climbed Ben Nevis as part of something amazing, something truly amazing, for friends who actually became maybe my most inspirational friends period and an unreal power couple, who’s only goal is to raise awareness of a disease, a disease called Battens. A disease that from the moment they heard those words threatened their entire family and existence. It became apparent to me from the beginning that myself Gail and Matthew (The Richs- as I like to now call them) would be firm friends after they became clients at Evo.
The diagnosis of this terrible disease for their eldest daughter Nicole (4 at the time) came out of the blue and was not what they were expecting, it was little things like loss of balance, progression of speech and motor skills which made this lovely couple ask for further tests, leading to the diagnosis, it was heartbreaking to sit with them as newly found friends and hear how life may potentially be for their little yet perfect family going forward. So much uncertainty, so much worry, so much learning and probably too many questions to ask. Three months later they found out that their youngest daughter Jessica (just 14 months old) also had this awful disease that affects the nervous system and leaves a trail of destruction behind it. There were no words, just lots of tears, sitting trying to learn about it, understand it and digging into research to see if there was any hope…… just the slightest glimmer. As a friend, as a parent with 3 beautiful children of my own I spent some time trying to imagine how you would deal with this as parents I have to say the only feeling it gave was like being at the bottom of an endless well…. no sight of light at the top. Not enough oxygen to take a deep breath and fill your lungs, like suddenly nothing was the same any more.
BUT as I said before these amazing people, Gail and Matthew -“The Richs” got up, stood tall, wiped their tears and took it to the next level.
NO they wouldn’t accept that Battens was going to do this to their two beautiful girls, NO they weren’t going to stand still and accept that this “is what Battens does”, NO they weren’t going to go along with what was believed to be unchangeable, they are standing firm and standing tall and showing their handsome and loving son Louis about fighting, giving their girls the god given right to “see if they can make a difference” for them and others and being ambassadors and pioneers (oh and mountaineers ;-)) all at the same time!
“Who knows what tomorrow brings”, I used to take this saying for granted but I now know how “tomorrow” can change everything you ever thought or believed about you, your family, your life !
I started this blog to talk about a mountain (Ben Nevis) BUT before I knew it it was about a mountain, that has no peak, that is never ending, that my “forever friends” may climb forever and I just want to say your girls and Louis are so lucky to have you both as their parents, guides and guardians….. never change and never give up hope ❣️
To help us raise funds please follow the link below
What is Batten disease?
Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses, or NCLs. Although Batten disease originally referred specifically to the juvenile form of NCL (JNCL), the term Batten disease is increasingly used by pediatricians to describe all forms of NCL.