At 8 months of age, we noticed that Xander was not reaching his milestones. We raised our concerns with our GP, and our search for answers began. Little did we know what was to unfold. At 13 months of age we met with the Pediatrician who advised us that they thought Xander just had low muscle tone (hypotonia) but would run some tests to rule anything nasty out. Then told is to come back in 3 months. After leaving the ped office, we were not convinced in our gut we knew something wasn’t right, so we sort a second opinion. On the 13th April 2017 our lives were changed forever, that Easter will always be etched into our memory. With three small words, hopes and dreams for our beautiful little boy were changed in an instant. Xander was diagnosed with a rare genetic disorder called Pitt Hopkins Syndrome. I still remember leaving the consulting suites holding a piece of paper with “Pitt Hopkins Syndrome” handwritten on it! Also written on that piece of paper was a website that we were told to google for more information. No parent should ever have to face this, but it was the beginning of our journey.
Pitt Hopkins Syndrome is a very rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. There are approximately 500 cases worldwide. Xander become the 11th diagnose case in Australia. It is characterised by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, gastrointestinal issues, lack of speech, and also distinctive facial features. Global developmental delays and hypotonia are significant and intellectual disability is moderate to severe, however, true intelligence is difficult to measure with the motor and speech delays experienced in many.
Most affected individuals are non-verbal and many never walk.
Other common characteristics are behavioral issues, a happy excitable demeanor, hand flapping, seizures/epilepsy and severe myopia (nearsightedness).
How could our precious boy be one of the 500 cases worldwide? And 11 cases in Australia, there is no history of the condition within our family, we had a very uneventful, textbook pregnancy, we did everything we should.The reality is we had a better chance of winning the lottery, then having a child with Pitt Hopkins Syndrome. We will never know the answer to “why our beautiful little boy” ,” why Xander?”, “ why our family? “ Xander’s beautiful smile and laughter is contagious! He brightens the lives of everyone around him. He has changed our entire outlook on life, with every new day we appreciate the little things, just being able to walk and talk are things we took for grant until confirming Xander’s condition. Imagine not being able to tell the world your wants? And needs? Imagine not being able to feel the grass under your feet while you walk on your own. He has opened our eyes, our world is a better place, and we are better people because of Xander.
As a parent you dream about your child growing up, getting married, having children, career, what sport they will play. For us looking to far ahead is hard, but although our dreams for Xander have changed, new dreams for our boy have been create.Our new dreams and hope for Xander’s are for him one day walk and talk. With our chosen therapy pathways we are confident that he will one day walk. We are also using speech therapy along with a communication device and sign language in conjunction with spoken language. We are hopeful that one day Xander will learn one or a combination of these methods to communicate. In the meantime, we are proud to be Xander’s voice and will always be his biggest advocates.
We know that the early years of a child’s life are the most important for learning. Early intervention is the key and can alter the course of developmental trajectories and will help prevent the onset of secondary complications. The next few years are critical for Xander developmentally. In the months after Xander’s diagnosis we found that he just wasn’t improving at all, after months of Speech, Occupational and Physiotherapy therapy nothing seemed to be working. After months of investigation and research, we were lead us to an intensive therapy program called the Neurological and Physical Abilitation (NAPA) Centre in Sydney. NAPA offer specific and unique therapy programs for children with neurological and physical disabilities. Qualified Physiotherapists, Occupational Therapists, and Speech Pathologists are extensively trained beyond the norm. It differs from conventional therapy programs which usually involves short 30mins therapy session once a week or once a fortnight. NAPA provide a 3 week block of intensive therapy, which consists of 60 hours of therapy over a 3 week block. The results speak for themselves. Many children gain more progress in 3 weeks of intensive therapy at NAPA than they do in a whole 12 months of ongoing traditional therapy.
Initially, we were dumbfounded that there was nothing like NAPA available in Victoria and also the expensive cost for a program, would it all be worth it? would it work? the time off work? the impact on our daughter and our family as a whole? Travel expenses? Taking Xander away from his normal routine and new surrounding?. After much discussion we decided to take the chance. Xander attended his first NAPA intensive in August 2017 and then again in December 2017. During this time at NAPA his therapies consisted of 2 hours each day of physiotherapy for two weeks solid. Our only regret was that we didn’t come sooner!
Prior to August, Xander could not sit up unaided, he could not bare weight through his legs at all, he couldn’t roll or hold a bottle. Each trip we seen significant gains in his development. First, he started to babble, he developed body awareness, his core strength improved remarkably and he developed his natural reflexes. More than anything he became aware of the world around him, he wanted to be apart of it.
The real game changer was Xander’s first 3 week intensive block held in February this year. Which consisted of Occupational therapy, Physiotherapy, CME and Speech therapy for 4 hours each day for 3 weeks. No-one could ever understand the joy we felt when we heard the words, MUM, HI, MORE and UP….Words we had long given up hope of ever hearing let alone ever thought possible. The joy when we watched our beautiful boy take steps with minimal assistance in therapy. The joy of seeing our little boy bare weight on all fours and wanting to move / rock forward, his beautiful smile tells us so much and we are so proud of how far he has come and continues to go. These results are from thousands upon thousands of repetitions, everything with Xander is learnt and super hard work for him, for Xander taking 5 steps is like us climbing Mt Everest.
We know that NAPA provides the best platform to give Xander the best possible chance of achieving so much more than originally thought. We know that by providing Xander with as much early intervention as possible, it will allow his brain the chance to develop to the best of its ability. We want to give our little boy the best opportunities to reach his full potential. Xander will be attending the NAPA Centre in June 2018 and again in November 2018, each NAPA intensive costs $10,500. We have seen the results and know that by attending 3 NAPA intensives per year for the next 3 years will see our little boy climb mountains. Our reality is that as a family we will be spending over $30,000 per year to give Xander the best possible chance. This does not take into consideration additional equipment that he requires in order to reach his full potential. While the cost is great the rewards are worth every cent!
Nobody expects to find themselves on this journey; it is something we didn’t plan for, I wouldn’t wish it on anyone, we didn’t expect and we honestly didn’t think we could handle it but Xander gives us our strength, his smile makes the darkest day brighter, our love for him keeps us fighting. Xander’s future and therapy is our priority. All donations, no matter the size will go along way to giving Xander the best possible opportunities in life, primarily his ongoing therapy (speech, physiotherapy and Occupational therapy), NAPA programs and when required the purchasing of specialized equipment that he may need. Xander is teaching us so much more than we ever thought possible. His strength guides us each day, his courage, his perseverance is endless.
That smile makes us fight everyday for a better tomorrow. We aren’t just going to sit back and hope for a miracle, we are going to fight for one!! He is teaching us to be better people. We have strength that we never thought possible.
We appreciate your support and sincerely thank you for the bottom of our hearts for your donation, support and love.
They say it takes a village to bring up a child and for Xander this is most definitely true.
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