Nayas peroxisomal journey

Hi everyone This is naya she’s recently been diagnosed with a rare genetic disease called peroxisomal a word that is constantly looping in my mind at the moment. Let’s start from the beginning, naya was born on the 12/12/2019 on her due date healthy happy baby. As naya started to get older we noticed she wasn’t meeting her milestones and showed a lot of autistic traits which led to naya being referred to paediatrics and was listed as that time for having global development delay. We waited almost two years to be seen and the paediatrician agreed it looked like Naya was on the spectrum. Naya was then referred to physio as she has always struggled to open her legs and wrap around when being carried etc they sent us away and told us she was being lazy! To this day Naya still doesn’t walk outdoors. Naya is ill all the time she catches every bug and cold and it takes a toll on her body so we were always concerned and asking why does she keep getting unwell it’s not normal to be ill more days than being healthy. Naya was then sent for blood testing along with her dad and I to make sure there was no underlying health conditions nayas results came back that she had mutations in her pex7 gene. This means that her dad and I both have one working pex7 and one faulty and we have both given naya the faulty one resulting in none of nayas working. We went to see a specialist in Edinburgh who explained what the disease is and unfortunately at the moment there is no cure and naya will decline in health as she grows. Her eyesight and her hearing will deteriorate. In the new year we will meet with a surgeon as naya requires x rays on all her bones, she needs surgery on her pelvis as they reckon it hasn’t formed properly and this is why she struggles to walk (even tho physio told us she was lazy) she also requires surgery for tube feeding directly into her stomach so she can get all the nutrients she needs as she doesn’t eat enough (her food palate is very limited) something we were told is common with this disease. The first question I asked the specialist was will naya live a normal life and my worst fear came true naya will not live a normal life and they don’t know how long she will live as everyone is different but that will not stop us fighting for naya to have the best life she possibly can! This group is to spread awareness and to even help educate myself as this is the first time I’ve ever heard of the disease. I will be making a go fund me for naya for 2 main reasons, 1 being that we want naya to live the best life she can and she absolutely loves everything sensory and we would love to make her bedroom a sensory heaven and number 2 we want to help fund GFPD (Global Foundation For Peroxisomal Disorders) they are currently trying to improve the life’s of individuals with the disease by funding research. Thank you for reading I will update as the journey proceeds

Update* Nayas x rays show her hips are growing out instead of down so we are meeting with a surgeon to discuss what will be best for Naya. 

Naya has cataracts in both eyes best case she needs glasses worst case she may need surgery to remove.

Nayas phyatic blood count is 181 normal range for a person should be between 0-12