Felicity Jackson or Fliss as she is known to her family, was born with very rare PVNH (Periventricular Nodular Heterotopia), a rare neuronal migration disorder last September to parents Chloe and Chris. On Sunday they invited family and friends to mark World PVNH Awareness day at the Eyot Centre.
PVNH affects babies, children, and adults alike around the world. It can be associated with a spectrum of clinical manifestations from mild to debilitating, including seizures in up to 90% of PVNH-affected individuals, motor, cognitive and developmental delays, often involving issues with multiple organs and which may be fatal if its symptoms are left unrecognised and untreated.
Chloe said, “We are a couple in our early 30s, and we’ve gone through the pregnancy which was a dream and the birth was pretty good and then you have a blissful baby for the first few months, we simply didn’t expect to find ourselves faced with this. As time passed we noticed Fliss was not responding in the same way as other babies her age. We took her to the doctors and fast forward many months and tests we received this diagnosis. Something like this, nobody considered and we didn’t even know this condition existed and it’s completely life-changing. Fliss’ symptoms are currently developmental delay, and perhaps most significantly she is visually impaired. Due to her age, we live a little in limbo as to how her symptoms will develop over the coming years which is very difficult to say the least. She remains a happy, vibrant and beautiful baby, and we know she will go on to lead a fulfilling life in whatever form that may take. It’s taken time to come to terms with, butwe are being optimistic. My husband Chris is the most positive person and he’s always saying she’ll be the first blind astronaut.”
Chloe and Chris have not personally met anyone else with the condition and when attending doctor and hospital appointments they haven’t come across any medical personnel so far who have personally handled a case, with many having never heard of the condition either which makes it very challenging. They are currently going through a lengthy genetic testing process which hopefully will narrow down Fliss’ symptoms.
World PVNH Awareness Day was started by Yolaine Dupont from Vancouver in Canada in memory of her daughter Ella who passed away from the condition at just 7 months old and invites people to hold events and for people to wear pink and yellow in recognition of the condition. In many other countries they also illuminate landmarks in pink and yellow, which is on Chris and Chloe’s task list for next year! This year would have been Ella’s 14th birthday.
Guests enjoyed a barbecue beside the river and played Goalball a sport specifically designed for the visually impaired.
Chloe adds, “We didn’t know this was going to be our path but our family and friends so far have been and I’m sure will continue to be unbelievably supportive. We know that to get through this we’re going to need everyone’s support and love. Everyone wearing pink and yellow today and acknowledging it is amazing. They all know how much it means to have them all here today. It’s also lovely to see Fliss’ reaction to all the different voices. I imagine we will do something to mark the occasion every year, though it is just weeks away from Fliss’ first birthday. Her five year old cousin describes it as her superpower and says she’s so lucky toget to have two parties. We’ve called today Fliss’ Day and over the coming years we’ll do something in varying degrees including some fundraising. Increased awareness, education and research are needed to improve diagnosis, find more effective treatments and therapies for side effects and, ultimately, a cure.”
Chloe and Chris have found valuable support online through PVNH Support and Awareness Facebook Group which supports 775 families across 39 countries. Chloe explains, “Everyone is incredibly kind and supportive on the Facebook group but they’re also honest with what they’re saying. It’s reassuring to hear from others who are going through the same thing.”
To find out more about PVNH go to pvnhsupport.com