Sonny’s fight for a Miracle
Donation protected
On 20th November 2015 our perfect boy, Sonny Mitchell Hodson was born at 37 weeks after a healthy pregnancy.
Sonny had mild neonatal jaundice requiring phototherapy for 48 hours but other than this he was a happy, healthy baby full of constant smiles and laughter. He was a dream baby!
At 3 months of age, we noticed that Sonny had his hands tightly clenched and was not reaching for or grasping objects. We raised our concerns with the GP who advised us to come back when he was 6 months old if we still had concerns. After staying up late and “Dr Googling” every evening when Sonny went to bed, we decided not to wait any longer and went back at 5 months for a referral to the Paediatrician and Therapists for Early Intervention.
Sonny started Occupational and Physiotherapy when he was 5 1/2 months old and Speech Therapy shortly after.
While Sonny was progressing on his own timeline, it became clearer that every milestone reached was with the assistance of lots of intervention, practice and repetition and investigations into the cause of the delays was required.
The Paediatrician referred us to an Ophthalmologist and Audiologist and we yearned for the learning difficulties Sonny was experiencing to be able to be overcome by something as common as glasses or grommets.
DNA microarray testing was also completed and all results came back clear.
Sonny was then referred to a Neurologist with extensive testing including an MRI and Lumbar Puncture, nothing you want to see your precious baby have to go through. We rejoiced every time the results came back clear.
The Neurologist then referred us to a Geneticist, however were advised there was only a small chance we would receive an “answer”.
A week before Christmas in 2016 when Sonny was 13 months old, he began to crawl. The best Christmas present we could ever receive, our boy was on the move! Words cannot describe the joy and pride we felt. Was Sonny just progressing on his own timeline and would one day just “catch up” to his peers with all the intensive weekly therapy appointments both with the therapists and daily ourselves in the home?
We had a Geneticist appointment in January 2017 where Sonny was approved to have Whole Exome Sequencing testing completed and his DNA was sent away. The test was only released and approved in Victoria, Australia in 2016 and enables all 20,000 genes to be tested at the same time.
9 months later on Monday 23rd October 2017, we were driving to Sydney for a Parent Information evening at the Neurological and Physical Abilitation (NAPA) Centre where we were hoping to take Sonny for 3 weeks of Intensive Therapy in 2018 when we received a phone call from the Geneticist.
Sonny had a diagnosis. After 18 months of extensive investigations and testing he was diagnosed with Pitt Hopkins Syndrome.
I remember trying to find a place I could safely pull the car over on the M1 and crying so hard I was gasping for air and couldn’t breathe...
Pitt Hopkins Syndrome is a very rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. There are approximately 500 cases worldwide. It is characterised by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, gastrointestinal issues, lack of speech, and distinctive facial features.
Global developmental delays and hypotonia are significant and intellectual disability is moderate to severe, however, we believe that true intelligence is difficult to measure with the motor and speech delays.
Most affected individuals are considered non-verbal and many do not walk.
Other common findings are behavioral issues, a happy excitable demeanor, hand stereotypic movements, seizures/epilepsy and severe myopia (nearsightedness).
How could our precious boy be one of the 500 cases worldwide? There is nobody in our family with this condition, we had a healthy text book pregnancy, a drug-free natural birth, we followed the dietary and exercise recommendations. We did everything we were meant to. The chances of winning the lottery are higher than having a child with Pitt Hopkins Syndrome.
The answer to “why our precious baby” will never be know. It turns out this was de-novo, meaning it is present for the first time in Sonny.
Chromosome abnormalities are actually quite common. The majority of chromosome changes happen either in the egg or sperm before conception or shortly after fertilization. In fact, up to 50% of all conceptions carry some kind of a chromosome change. However, the grand majority of those conceptions do not result in a pregnancy. The embryos either do not implant, or they are miscarried, usually early in a pregnancy.
We are so unbelievably grateful to have Sonny earth side. We always knew he was precious but we have learned he is also very, very unique, with only 2 others reported worldwide with the same variant on the TCF4 gene.
Sonny’s smile and laughter are contagious and he brightens the lives of everyone around him. He really has changed our entire outlook on life and the world is a better place with Sonny in it. We are better people because of Sonny.
Sonny is exactly the person he is meant to be and he is changing us to be the people we are meant to be.
Here are some things Sonny would like you to know about Pitt Hopkins Syndrome:
- I am still the same Sonny and this diagnosis does NOT define me!
- It is because of you and my family who believe in and drive me everyday that I am already proving the scientific literature wrong and WILL continue to do so. Please continue to help me reach my full potential.
- It takes me lots of practice to learn new skills but I do/will get there. Thank you for being so patient as the skills I have gained are through lots of practice and repetition and do not come automatically.
- Sometimes I get very frustrated when I cannot express myself, it is difficult when my receptive language far exceeds my expressive language. I desperately want to communicate with you, please give me a chance to show you.
- I WILL do great things in this world!
We have new dreams for our boy, at the top of the list is that Sonny will one day walk and talk. Specialists are confident he will walk one day and we are using a communication device and sign language in conjunction with spoken language and believe that one day Sonny will pick up one of, or a combination of these methods to communicate.
In the meantime, we are Sonny’s voice and will always be his biggest advocates.
It is now recognised that the early years of life are the most important for learning. Recent years have seen the emergence of a robust evidence base around the benefits of early identification and intervention for children with disability. Effective early intervention strategies can both alter the course of developmental trajectories and prevent the onset of secondary complications.
Along with the traditional Speech, Occupational and Physiotherapy that we have been completing since Sonny
was 5 1/2 months old, we have found an intensive therapy Centre - Neurological and Physical Abilitation (NAPA) Centre in Sydney that offer specific and unique therapy programs for children with neurological and physical disabilities, delivered by qualified and Australian registered Physiotherapists, Occupational Therapists, and Speech Pathologists. The Centre is unique to Australia, and offers intensive and early intervention programs that are not available anywhere else in Australia, and are otherwise only available overseas. Results show that many children gain more progress towards their goals in 3 weeks of intensive therapy than they do in a whole 12 months of ongoing traditional therapy!
We are thrilled that Sonny was offered a place at the NAPA Centre in 2018! However, with a cost of over $10,000 per 3 week Intensive and a recommendation that Sonny completes 3 of these 3 week intensive sessions per year, this is where we need your help.
Making the decision to ask for support has been an extremely difficult and uncomfortable decision for Sarah and I.
Nobody expects to find themselves on this journey; it is something we didn’t plan for, we didn’t expect and it is something we would have never thought we were capable of doing.
But Sonny is the incredible gift we were blessed with and Sonny’s future and therapy takes priority over our reluctance to ask for support.
We really want to provide Sonny with as much early intervention as possible to give his brain the chance to develop to the best of its ability and to learn new pathways. We want to give our little boy the best opportunities to reach his full potential.
We want to be completely transparent about how any funds raised would be used:
- 3 week intensive therapy at the Neurological and Physical Abilitation (NAPA) Centre in Sydney where Sonny will attend 4 hours per day, totaling 60 hours over the 3 week period. It is recommended that Sonny complete the intensive program 3 times per year.
Accommodation in Sydney and leave from work will also be required per intensive therapy.
- Attend the Pitt Hopkins Syndrome
Family Conference & Scientific Symposium in Minneapolis, America in June 2018. This will enable the opportunity to meet the worlds leading experts and talk about Research and resources to best assist Sonny.
We appreciate your support and sincerely thank you in advance for any help at all you feel able to give.
They say it takes a village to bring up a child and for Sonny this is most definitely true.
We aren’t just going to sit back and hope for a miracle, we are going to fight for one!!
Sonny had mild neonatal jaundice requiring phototherapy for 48 hours but other than this he was a happy, healthy baby full of constant smiles and laughter. He was a dream baby!
At 3 months of age, we noticed that Sonny had his hands tightly clenched and was not reaching for or grasping objects. We raised our concerns with the GP who advised us to come back when he was 6 months old if we still had concerns. After staying up late and “Dr Googling” every evening when Sonny went to bed, we decided not to wait any longer and went back at 5 months for a referral to the Paediatrician and Therapists for Early Intervention.
Sonny started Occupational and Physiotherapy when he was 5 1/2 months old and Speech Therapy shortly after.
While Sonny was progressing on his own timeline, it became clearer that every milestone reached was with the assistance of lots of intervention, practice and repetition and investigations into the cause of the delays was required.
The Paediatrician referred us to an Ophthalmologist and Audiologist and we yearned for the learning difficulties Sonny was experiencing to be able to be overcome by something as common as glasses or grommets.
DNA microarray testing was also completed and all results came back clear.
Sonny was then referred to a Neurologist with extensive testing including an MRI and Lumbar Puncture, nothing you want to see your precious baby have to go through. We rejoiced every time the results came back clear.
The Neurologist then referred us to a Geneticist, however were advised there was only a small chance we would receive an “answer”.
A week before Christmas in 2016 when Sonny was 13 months old, he began to crawl. The best Christmas present we could ever receive, our boy was on the move! Words cannot describe the joy and pride we felt. Was Sonny just progressing on his own timeline and would one day just “catch up” to his peers with all the intensive weekly therapy appointments both with the therapists and daily ourselves in the home?
We had a Geneticist appointment in January 2017 where Sonny was approved to have Whole Exome Sequencing testing completed and his DNA was sent away. The test was only released and approved in Victoria, Australia in 2016 and enables all 20,000 genes to be tested at the same time.
9 months later on Monday 23rd October 2017, we were driving to Sydney for a Parent Information evening at the Neurological and Physical Abilitation (NAPA) Centre where we were hoping to take Sonny for 3 weeks of Intensive Therapy in 2018 when we received a phone call from the Geneticist.
Sonny had a diagnosis. After 18 months of extensive investigations and testing he was diagnosed with Pitt Hopkins Syndrome.
I remember trying to find a place I could safely pull the car over on the M1 and crying so hard I was gasping for air and couldn’t breathe...
Pitt Hopkins Syndrome is a very rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. There are approximately 500 cases worldwide. It is characterised by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, gastrointestinal issues, lack of speech, and distinctive facial features.
Global developmental delays and hypotonia are significant and intellectual disability is moderate to severe, however, we believe that true intelligence is difficult to measure with the motor and speech delays.
Most affected individuals are considered non-verbal and many do not walk.
Other common findings are behavioral issues, a happy excitable demeanor, hand stereotypic movements, seizures/epilepsy and severe myopia (nearsightedness).
How could our precious boy be one of the 500 cases worldwide? There is nobody in our family with this condition, we had a healthy text book pregnancy, a drug-free natural birth, we followed the dietary and exercise recommendations. We did everything we were meant to. The chances of winning the lottery are higher than having a child with Pitt Hopkins Syndrome.
The answer to “why our precious baby” will never be know. It turns out this was de-novo, meaning it is present for the first time in Sonny.
Chromosome abnormalities are actually quite common. The majority of chromosome changes happen either in the egg or sperm before conception or shortly after fertilization. In fact, up to 50% of all conceptions carry some kind of a chromosome change. However, the grand majority of those conceptions do not result in a pregnancy. The embryos either do not implant, or they are miscarried, usually early in a pregnancy.
We are so unbelievably grateful to have Sonny earth side. We always knew he was precious but we have learned he is also very, very unique, with only 2 others reported worldwide with the same variant on the TCF4 gene.
Sonny’s smile and laughter are contagious and he brightens the lives of everyone around him. He really has changed our entire outlook on life and the world is a better place with Sonny in it. We are better people because of Sonny.
Sonny is exactly the person he is meant to be and he is changing us to be the people we are meant to be.
Here are some things Sonny would like you to know about Pitt Hopkins Syndrome:
- I am still the same Sonny and this diagnosis does NOT define me!
- It is because of you and my family who believe in and drive me everyday that I am already proving the scientific literature wrong and WILL continue to do so. Please continue to help me reach my full potential.
- It takes me lots of practice to learn new skills but I do/will get there. Thank you for being so patient as the skills I have gained are through lots of practice and repetition and do not come automatically.
- Sometimes I get very frustrated when I cannot express myself, it is difficult when my receptive language far exceeds my expressive language. I desperately want to communicate with you, please give me a chance to show you.
- I WILL do great things in this world!
We have new dreams for our boy, at the top of the list is that Sonny will one day walk and talk. Specialists are confident he will walk one day and we are using a communication device and sign language in conjunction with spoken language and believe that one day Sonny will pick up one of, or a combination of these methods to communicate.
In the meantime, we are Sonny’s voice and will always be his biggest advocates.
It is now recognised that the early years of life are the most important for learning. Recent years have seen the emergence of a robust evidence base around the benefits of early identification and intervention for children with disability. Effective early intervention strategies can both alter the course of developmental trajectories and prevent the onset of secondary complications.
Along with the traditional Speech, Occupational and Physiotherapy that we have been completing since Sonny
was 5 1/2 months old, we have found an intensive therapy Centre - Neurological and Physical Abilitation (NAPA) Centre in Sydney that offer specific and unique therapy programs for children with neurological and physical disabilities, delivered by qualified and Australian registered Physiotherapists, Occupational Therapists, and Speech Pathologists. The Centre is unique to Australia, and offers intensive and early intervention programs that are not available anywhere else in Australia, and are otherwise only available overseas. Results show that many children gain more progress towards their goals in 3 weeks of intensive therapy than they do in a whole 12 months of ongoing traditional therapy!
We are thrilled that Sonny was offered a place at the NAPA Centre in 2018! However, with a cost of over $10,000 per 3 week Intensive and a recommendation that Sonny completes 3 of these 3 week intensive sessions per year, this is where we need your help.
Making the decision to ask for support has been an extremely difficult and uncomfortable decision for Sarah and I.
Nobody expects to find themselves on this journey; it is something we didn’t plan for, we didn’t expect and it is something we would have never thought we were capable of doing.
But Sonny is the incredible gift we were blessed with and Sonny’s future and therapy takes priority over our reluctance to ask for support.
We really want to provide Sonny with as much early intervention as possible to give his brain the chance to develop to the best of its ability and to learn new pathways. We want to give our little boy the best opportunities to reach his full potential.
We want to be completely transparent about how any funds raised would be used:
- 3 week intensive therapy at the Neurological and Physical Abilitation (NAPA) Centre in Sydney where Sonny will attend 4 hours per day, totaling 60 hours over the 3 week period. It is recommended that Sonny complete the intensive program 3 times per year.
Accommodation in Sydney and leave from work will also be required per intensive therapy.
- Attend the Pitt Hopkins Syndrome
Family Conference & Scientific Symposium in Minneapolis, America in June 2018. This will enable the opportunity to meet the worlds leading experts and talk about Research and resources to best assist Sonny.
We appreciate your support and sincerely thank you in advance for any help at all you feel able to give.
They say it takes a village to bring up a child and for Sonny this is most definitely true.
We aren’t just going to sit back and hope for a miracle, we are going to fight for one!!
Organizer
Mitch Hodson
Organizer
Kahibah NSW
