Date Of Birth: April 22nd, 2009

Illness: 1P36 Deletion Syndrome

We feel very special today and thank you all for the patience, time and love you have put into Tom’s quilt. It continues to amaze me every day that there are so many kind and thoughtful people in this world who reach out to us and remind us that we are not alone.

Thank you!

Love and best wishes

Natalie, Gordon, Harry and Thomas W

BIOGRAPHY

On 22 April 2009, we welcomed our fragile yet determined little boy Thomas into the world.  At this time, we also had a healthy 19 month old son and we had no history of brain or other chromosomal disorders in our family.

Thomas presented very early with the inability to suck properly at birth.  He came home to us from hospital as a “normal” baby but as his mother, I knew there was something wrong.  He could not suck on the bottle effectively, did not cry, lacked facial expression and reminded me of a someone who had suffered a stroke.

When Thomas was 1 week old, they discovered he had hearing loss – severe in one ear and mild to moderate in the other.  And so our journey started.

Then at 3 weeks of age, Thomas stopped breathing at home while I was feeding him and he turned blue very quickly.  My husband resuscitated him with the help of the ambulance over the phone.  Thomas went on to spend the next 6 weeks in ICU and hospital.  He spent 5 days in on life support and was resuscitated twice more – suffering 4 lung collapses also.  We baptised our baby in intensive care and we were told he would probably not make it.

His MRI seemed clear and we had no diagnosis to understand what was wrong with our son.

The next 6 months went by in a blur of scares and tests.  Thomas stopped breathing so many times at home I can’t remember.  We almost lost him at least 5 more times and we were finally told these episodes of not breathing were caused by life threatening seizures.  Thomas has spent 5 ½ months of his 9 months of life in and out of hospital (with more stays and operations scheduled for this year).  He grew in the hearts of the staff at the Mater Hospital and is now very well known and loved there.  At home, life was stressful and we lived in fear all the time.  Tom doesn’t manage his secretions (part of his uncoordinated swallow) and we had to suction him up to 6 times a day.  It was traumatic for everyone.

Then in October 2009, a wonderful Geneticist suspected a chromosomal disorder and asked for specific micro fish chromosomal testing for Thomas.  They discovered that Thomas has a very rare chromosomal disorder called 1P36 Deletion Syndrome.  missing a very small part of Chromosome 1 which is the largest chromosome in our DNA cells. For healthy development, chromosomes should contain just the right amount of material – not too much and not too little. While Tom is missing a tiny piece, it affects his learning and physical development. 

http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletion%20FTNW.pdf

Thomas is now 9 months old and is doing well and is not so tiny anymore!  Tom has hearing loss and his body remains very “floppy”.  He feeds through a tube as his swallow is not consistent and he has severe reflux.  He’s on oxygen as a result of the trauma his lungs went through when he was 3 weeks old.  He suffers with seizures & a heart condition also.

On the bright side, we have seen our little boy develop slowly, in very small ways - but he has developed.  Tom is brave and has a strong will.  He yells at the doctors, nurses & us when he doesn’t like something, and he recently started giving us fleeting smiles & giggles to let us know he is happy.  He verbalises his feelings so well for a child with hearing loss and with limited communication options.  He knows we are his family and he knows we love him.  We know he feels safe at home with us.  He loves water and the outdoors.  We’re ramping up therapy for Tommy as he gets stronger and we’ll always do our best to give him the opportunities he needs to meet his milestones.

While you never choose to travel down the path of having a child with a disability, Gordon and I feel we have learnt so much in this short time.  The human spirit & the will to live is strong – even in a tiny boy who is fighting the odds daily.  The kindness and support of complete strangers who you meet on this journey is overwhelming.  We have started to really take notice of the little things that make life special.

Thomas may never crawl, or sit up unaided, or walk or talk.......but maybe he will.  And that is what we are praying for.