Tell us about Wren’s diagnosis.
We struggled a lot with Wren for the first year of her life, feeding was a huge issue that we didn’t know at the time was one major indicator of her syndrome she was in the 1 percentile until she was 14 moths old and trying to get her to gain weight was impossible, the terms ‘failure to thrive’ came up a lot making an already depressed new mom feel 100% times worse. As new parents your told '“oh of course its hard this is just life this is what having kids is its hard” but little did we know just how hard we had it at the time wasn’t ‘normal’ at all. Wren never hit any of her milestones even within 6 months of what would be considered ‘average’ I knew something wasn’t right but I kept being told to wait and see if she catches up I wish now I had listened to my gut and pushed earlier for genetic testing because we could have implemented some early interventions sooner for her. When she was 14 months old after a LOT of research I was actually convinced she had Angleman Syndrome because she ticked every symptom of it so we finally had a HGC Genetic Array and her diagnosis was 17p.11.2 Duplication (inc Rai1) Potocki Lupski Syndrome - it never came up once when I was researching her symptoms & her Dr who was a paediatric neurologist had never heard of it either.
Could you please describe your feelings when you received Wren’s diagnosis?
I was utterly stunned, overwhelmed by a profound sadness I had never experienced. Even now, recalling the day we received her diagnosis brings a lump to my throat, and at times, I still struggle to process my emotions. What weighs on me most is the unfairness she faces, and the realization that no child deserves this fate. Yet, we live in a world where such things occur daily without reason. So, do we accept it as part of life, or do we rise up, refusing to accept the status quo? I firmly believe in standing up, acknowledging that there must be another way—a solution, a treatment. We should work tirelessly to find that path, because if other syndromes are making progress, why not us too?
What Difficulties does Wren face?
At the Moment feeding is a huge issue for us, i’m fully aware through my own research how important nutrition is for the first early years of a childs life and how its one of the building blocks for their future health so this is something we focus on a lot, constantly trying to get good nutrition in her v just getting some nutrition in her & appetite varies day to day but because she is constantly underweight and struggling with poor muscle tone it puts even more pressure on us to make sure we persevere with her feeding no matter how much she resists it. We won’t rule out feeding tubes in the future if it ever gets to a point where her Dr recommends it based on her health at that time. She’s almost 2 and still not walking independently yet although she’s making progress its been a long struggle of constant physical therapy everyday, while typical children will naturally go through the stages towards upward mobility we had to push Wren alot to just get to this point and its not been without resistance and lots of tears! but we are happy she will be walking on her own soon. Wren is only saying a few words at the moment - dada and Cat (funnily enough) and we know with PTLS speech is just one of many effected areas of development - i’m hopeful she will be able to speak and have a decently full vocabulary and be able to communicate effectively in the future, (even though some do remain non verbal unfortunately) speech therapy is one area we will be focusing on with her now she’s getting towards her physical mobility goals (we will try to focus each year one thing at a time so we don’t overwhelm her as she gets frustrated very easily). She struggles constantly with headaches we aren’t sure why as not much research has been done around this symptom although its something that’s reported on a lot, its so hard for us to see her struggling with pain everyday but she’s a feisty little trier and its never hard to get a laugh out of her!
What are your worries / thoughts for the future?
My biggest fear for her is that her development will stop short of her being able to live life on her own terms, with this syndrome her mental development may stop at anytime meaning there will be things she just won’t ever be able to do - its a constant worry for me always wondering will she be able to do this or that will she understand this or that - i’m aware that she most likely won’t ever live a fully independent life and we are ok with knowing we will be her main caregivers for all of our life, as long as she’s able to do something that gives her happiness and fulfilment that’s enough for me to focus on for now, but i’m worried about the impending and constant health struggles she will be faced with throughout her lifetime through no fault of her own and how that will effect her quality of life. A huge worry is who will care for her when we aren’t here anymore, she will be vulnerable and I just can’t bare the thought of not being here to protect her forever.
What kind of things does Wren enjoy doing?
Wren is so inquisitive, she wants to see and touch everything - the smallest pin drop noise and she has to investigate! she a curious and adventurous child and she’s always got a smile ready for you - she absolutely loves music and nursery rhymes, and sensory books are probably her favourite thing do sit and play with, turning the pages and pointing to the pictures. She loves going on walks outside always gesturing at the door and she loves being around nature, trees, flowers, animals etc
Why is research & a potential treatment for PTLS important to you & your family?
It's a sentiment that should be self-evident. Our children deserve equal attention from researchers and the medical community, regardless of their syndrome. They shouldn't be left to live with it simply because researching and finding treatments may be complex or costly. We must make the effort, or we'll never know what's possible. While other genetic syndromes are progressing in research and treatment, PTLS has unfortunately been left behind. If there's a chance to improve their quality of life by alleviating symptoms, it's a clear choice for me. Considering the current advancements in the medical field, just imagine where we could be a decade from now!