Islas rare complex chromosome condition is called Prader Willi syndrome (PWS) which affects 1 in every 15-20,000 people making it very rare and unknown to most.
It causes stunted growth, low muscle tone, delayed mental and physical development, insatiable hunger due to no signals between her stomach and brain- therefore always hungry, causing a lot of stress and anxiety, especially around food, behaviour complications, along with many other imbalances.
We have to lock all food away out of sight and out of mind, although Isla will search, hide or steal food if able. We eat three healthy meals a day, no bad snacks as her body can’t prosses fats or sugars as we can, we keep fit by biking, swimming and walking, dancing and outside games, but she exhausts herself easily due to her low muscle tone.
Isla has to have injections every night to help her grow and gain muscle tone, keeping her mobile and active is the key, which in turn keeps her strong enough to join in with the other kids’ activities. Isla was receiving growth hormone in the UK since she was 2, then by 2016 she’s been receiving it here in New Zealand, enabling us to move back here from UK – again!
Isla may not lead an independent life or enjoy life’s highlights of having children, or her own home, as left to her own devises she would overeat, become obese, suffer from heart disease, diabetes could set in ending disastrously.
Another real concern is overeating results in the rupturing of her stomach at any time should she be unmanaged.When Isla was born she was what they call a floppy baby and unable to feed, within 2 days she was in intensive care all wired up in that awful little glass box incubator, when all you want to do is hold your baby and feed naturally when hungry. By this time, I was expressing, and Isla was nasal gastric tube fed by the clock for the later 4 months on.Life was difficult for us as we didn’t know what to expect, or how life was going to be with a child with such a condition. Looking back, we can now see that we were in a dark and lonely place in our hearts and minds and felt so helpless.
We were overwhelmed with feelings of every kind, love, anger, fear, isolation and guilt for our beautiful little baby girl. We planned the pregnancy with both our girls, always keeping healthy, very much enjoyed being pregnant and preparing for their arrivals as one does, so we ask – why us?
In time we’ve slowly got our heads around it all, sometimes I feeling stronger than other times, but all in all we have it under control – after all we’re only human. At first, we found information hard to digest but in time, as years went by, we learnt as much as we could process about PWS, in this we discovered the only way forward is to lock all food and any preparation out of sight and outreach. This reduces Islas anxiety to a more manageable state, stopping her for building bad habits while keeping her safe and at ease in her own home, although we still get asked a hundred times a day – What’s for breakfast? What time are we eating? Is it lunch time yet? When are we eating? Where are we eating? Literally over and over again!
There times for acceptations like for BBQ’s, picnics out and about, or visiting friends, but we need to organised and ready. To be fair Isla feels stressed during these times of change and we always need a plan and to keep a very close eye on her. We now find that times of being social and relaxed over dinner with friends isn’t as relaxing as it should be, but we work together to make it work.
We will always be learning as family as time goes by, as any other family does grow closer together through good and bad times. There’s a positive side to this Isla’s condition, that there generally very happy, smiley, loving people and loved by all, bringing happiness to others. So, to be a happy and contented person most of the time regardless of what’s going on around them, this is a big positive and we always remind ourselves of this bringing some relief.
Like any family with a child with any complication, life becomes hard and complicated suddenly, so we try and keep strong and focus on the good things. We feel we’re now in a stronger, more positive place, therefore in a position to give to those that are in that very same place we once were, helping first by inspiring others by giving hope, bringing awareness around the world and raising funds for PWS research through our informative, interactive video blog.
