My name is Tommy and I have 1P36 Deletion Syndrome.
My Mummy & Daddy say I am very cheeky & funny now and surprise them every day with my determination & my love of life! I am 4 now, and this year has been my most wonderful yet! I have mostly had "planned" visits to hospital, rather than having to go in because I am sick. Being well this year has given me lots more energy and opportunity to develop physically and cognitively. Your help has allowed me to continue to visit my wonderful private specialists who focus on me and my individual potential. Mummy is "still" teaching me how to sign “thank you”, and I did do it once on my own! So when I see you next time, I might just say thank you to you too. This is my story, told by my Mummy & Daddy and my brother Harry.
On 22 April 2009, we welcomed our fragile yet determined little boy Tommy into the world. At 3 weeks of age, Tommy stopped breathing at home and turned blue very quickly. My husband resuscitated him with the help of the ambulance over the phone. Thomas went on to spend months in ICU and the Mater hospital. We almost lost Tommy again due to life threatening seizures. We baptised our baby in intensive care and we were told he would probably not make it.
In April 2013, we celebrated Tommy’s 4th birthday! Over this last year, there has been no stopping our little man. He can now take supported steps in a basic walker, and has a very supportive walker at home (thank you!) that he can move around in independently! Recently, Tommy helped raise money for Queensland's first Children's Hospice by going in the Bridge to Brisbane and walking the last 20 metres with some help from his family. He still drinks some water orally and has recently taken a liking to sucking on strawberries (Tommy is tube fed into his jejunum) and he continues to develop his own beautiful communication style - with a few words, sounds, some sign language, eye contact and a whole lot of expression!
Seeing the glow of happiness on Tommy's face when he takes steps, learns actions to a song or says a word clearly is our driving force to never give up - because he doesn't! His appreciation of the therapy and opportunities he receives is evident in his eyes and smile and warms our hearts. Tommy’s neurologist met with him this year and was very surprised to see how well he is doing cognitively and physically! We always report that we have no doubt it is because of the wonderful early intervention we have been able to access for Tommy.
Tommy has 1P36 Deletion Syndrome, which means he is missing a very tiny part of Chromosome 1. There is no known reason why this happened to Tommy - except that it’s a small spelling mistake in Tommy’s genetics, resulting in specific symptoms and major challenges. As a result of this syndrome, Tommy suffers hypotonia (very low muscle tone), seizures (thankfully, it has been a long time since he has had one), hearing loss, vision delays, difficulties with communication (absent speech) and inability to feed orally (Tommy is fed via a tummy button), painful reflux, developmental delay and other health issues. For Tommy, one of the side effects of low tone and developmental delay is a very weak respiratory system that has led to a diagnosis of Chronic Lung Disease & Bronchiectasis - an obstructive lung disease, resulting in airflow obstruction and impaired clearance of secretions. It means that Tommy's energy levels are levels are low and his lungs are wet, but we feel the disease has slowed in it's progression because of the therapy and improved tone.
Tommy continues to become so much more aware and we believe he understands most things, but he just can’t say the words like we do. He is so brave and very stubborn at times! We are also seeing some tantrums and behavioural issues - which we are grateful for because we know it means Tommy is developing! He continues to be selective on the activities he likes at school (deciding that ‘walking practice’ is way more important than ‘painting’!), but he will now listen and understands that everything is important. He knows when he is sick and will even indicate to us that he needs help breathing. And on his planned visits to the hospital, he loves to catch up with the nurses & doctors who have helped him so much.
When people spend time with Tommy, they learn what a joy he is - his smile, cheekiness, big brown eyes, laughter & purity have been known to melt even the most serious of doctors. He giggles and smiles, he loves music and instruments. Recently, he has started to watch TV for the first time ever - but only ABC Kids! And he doesn't like it when the channel is changed! He likes reading stories, being outdoors and going on holidays. He loves his new adapted bike (thank you!) and his swing. He loves swimming, his dog Rosie, cuddles and kisses. He thinks Mummy's funny faces are hilarious and he likes little wrestles with his Daddy and brother. He loves to meet new and kind people.
Tommy’s relationship with his brother Harry continues to be our biggest joy as we watch them develop together. Harry has a lovely way of accepting Tommy’s differences, concern for his well-being, but still treats him like a “little brother”. And Tommy now idolises his big brother and can't wait to pick him up from school each day and have their bath together! They are developing their own way of communicating with each other - and to watch this, makes every struggle worthwhile.
Tommy’s Speech Therapist continues to work hard to help Tommy find ways to communicate effectively - and his iPad & POD book are part of his communication strategy.
Tommy’s busy week involves attending Xavier Conductive Education twice a week to help with his development, one morning at Conductive Education Qld, weekly appointments with his Physiotherapist and Speech Therapist and attending regular appointments with specialists and doctors. Next year, Tommy has also been accepted to do 1 day a week in a mainstream Kindy with a full time aide! Tommy loves the dedication and attention of his teachers - he knows they are helping him to learn to do things, and he is grateful. He is determined to walk, and while a few steps are a marathon for Tommy, we never stop believing, because he keeps trying.
There are many adults and children in the world with 1P36, so we can learn from them and we know he needs the following:
* Lots and lots of Specialists! Including Neurologist, Pediatrician, specialist dental work, Gastroenterologist, Orthopedic specialist, ENT, Respiratory specialist, and more! All of these specialists help to keep him well and make him comfortable.
* Specific therapies including Physiotherapy, Speech Therapy, Occupational Therapy and other Alternative Therapies.
* Specialised disability equipment.
As we progress along our journey with Tommy, asking for help does not become easier. However, we are driven by our love for him and by his sheer determination to try and our fear of not being able to give him all the opportunities he needs.
You can help Tommy by:
* Helping TEAM TOMMY seek sponsorships for our Riverwalk.
* Joining TEAM TOMMY for Riverwalk this year on 14 September
* Making a donation online.
Donations of $2 or more are tax deductible. The Developing Foundation Inc. manages all funds raised for Tommy and commits 90% of the funds directly to meet Tommy’s special needs. The balance is used by the charity to cover administration and credit expenses.
Tommy has taught us that the human spirit & the will to live are strong - even in a young boy who is fighting the odds daily. He has taught us that life is not always going to turn out as expected, but the golden moments with our children are the ones to hold on to and focus on. The kind and selfless people that Tommy has brought into our lives, both close and distant, has changed our view on the world forever & we are eternally grateful. Thank you.