My family

I’m Maura and this is the story of my undiagnosed child, Jack.

I’ve been married to Ronan for 22 years. We live in Draperstown, Northern Ireland with our five boys: John 20, Ryan 19, Shane 17, Ronan 15 and Jack eight, who has an undiagnosed genetic condition (our swan!)

Our family

Jack is such a happy, bubbly child full of beans and a real wee character. He has a smile that just melts your heart, and he has a cheeky attitude and the strength and determination of a lion. Jack loves his brothers and playing rough and flying round in his wheelchair, loves everything outdoors and is very active. He also loves school and will laugh his head off if you drop something or trip. He can be very stubborn and headstrong and likes things done in a certain way and there’s no tearing him away until it’s done.

Back to the beginning of our undiagnosed journey

Before Jack was born we knew he had a lot of complications and were told to prepare for the worst. It was awful; we just couldn’t take it in having already had four beautiful healthy boys. It came as a shock, but we never gave up hope, and for every day Jack hung on we knew his lungs were getting stronger and would help when his due date came. He was born at 37 weeks on 23 December 2008 and that’s when the real fight for survival began. 

Jack was unable to breathe for himself and required a lot of support; he had to be fed with a feeding tube, he was in a critical condition and we sat by his little incubator praying that he would keep fighting. They did lots of blood tests, skin and muscle biopsies, x-rays, and scans and all of them came back clear. Jack had no diagnosis and nothing to explain his complications.

It was 13 weeks until our family was back together again, as Jack got home and met his brothers who had only ever seen him briefly for a few minutes when he was six weeks old. Jack came home on oxygen, tube feeds, and with a list of consultants and people who would continue to play a big part in his life.

Life with an undiagnosed condition now

Jack is now eight and the biggest challenges in his life are severe scoliosis, being tube-fed, having hypoglycaemia and global developmental delay. He can’t talk or walk, is doubly incontinent, and has duplex kidneys, optic atrophy and arthrogryposis. These are a list of his conditions but unfortunately after numerous tests we joined the Deciphering Developmental Disorders (DDD) Study, which aims to find an overall diagnosis which we knew would be a rare genetic disorder. Four years later and they were unable to find anything, so we are now waiting to join the 100,000 Genomes Project where we find ourselves waiting again for an answer as to why our precious son has to deal with so much.

We hope that someday they will find a diagnosis that will help us understand Jack. With him having four big brothers it would be nice for them to know if they also carry the genes because some day they will have kids and even though they don’t say much about it, we think about it all the time. I don’t doubt for one minute that they would be able to manage if they had a miracle like Jack because we see how they love and care for him every day.

What finding support has meant to us

Research has become a big part of our lives and we tend to use Google a lot to try and reach out there to find others like or with similarities to Jack. By chance five years ago I came across SWAN UK (syndromes without a name), a UK network run by the charity Genetic Alliance UK. Before we found this wonderful network we felt isolated, alone and didn’t really fit into any other specific groups. You get a sense of belonging to a group when you know there are others there who share the same worries and know how you feel. We’ve made some wonderful friends and have had lots of fun days out thanks to SWAN UK.

So much support and advice comes from being part of the SWAN UK community, and there is always someone available day or night to chat to.

We all laugh and cheer together at some of the great achievements our swan children have accomplished and we also grieve and cry and offer support to those amazing strong beautiful kids who have gained their angel wings.

There’s no way to know which way our journey with Jack will go; we just take it one day at a time and enjoy each day to the fullest. We’re blessed to have him in our lives and he has surpassed all the expectations of every doctor who met him when he entered our world. He continues to fight through his battles and comes out smiling all the time.

Read more about SWAN UK.

Do you want to share your story of living with an undiagnosed condition? We would love to hear from you so email us at hello@myfamilyourneeds or tweet us @weareMFON