“He will not be a Charlie Brown”, said Elisa when she was back from the combined screening.
Tommaso (Tommy), our CHAMP1ON has an older brother, Francesco.
Francesco was called “Charlie Brown” because of the big round head by his paediatrician on the first medical visit.
Tommy it turned out was no Charlie Brown while he was in Elisa’s belly.
But we were totally unaware of his ultra-rare condition, we were reassured that everything was going just fine during the one ultrasound every month, just as with Francesco appeared to be good.
Then came the news at 38 weeks that “Tommy is too little”.
A few days later Elisa was induced and Tommy was out with a perfect 10/10/10 APGAR result which was better than his brother.
Soon after that we started seeing issues.
Tommy was unable to take the milk from either mummy or bottle.
All of his measurements were below the acceptable rating, with his head circumference being significantly lower than expected.
Tommy was also hypotonic.
The Hospital carried out an MRI, ECHO and even Prader-Willi genetic test.
They continued to investigate, first suspecting the cause to be cerebellum, then brain white matter, then a strange ventricular shape.
Fast forward to Tommy at 9 months old.
We got our genetic results, it’s CHAMP1.
A De Novo and Nonsense mutation, like the majority of the known affected patients.
We reached out to the foundation and the Facebook support group, for good.
The Facebook group provided an insight that was much more helpful than that of the doctor, as doctors know very little of CHAMP1, only what they read from research papers and official documentation.
Families have more experience, they have tried and tested therapies, and most important are willing to share it!
First vomit? The group was there to help.
Vaccinations? Again, the group was there to help.
PROMPT Speech therapy? Already tested and with a majority having positive results.
Fast forward again, Tommy is now 2 years 4 months old.
Tommy has a development delay, but he is progressing.
Tommy is able to walk and likes climbing the stairs.
Tommy likes to turn the lights on and off.
Tommy said his first word, even if no one except his family can understand it.
Mostly, Tommy likes to go wherever he should not.
Once when Tommy was 18 months old, daddy was so tired (as Tommy had the Flu) that we both fell asleep on the sofa.
Tommy woke up, climbed off the sofa, crawled up the stairs to the bedroom door and woke up his mummy.
Mummy was upset with daddy and not with Tommy 😉
While we need to remember that every country is different from a healthcare perspective, having advice and guidelines from those who have been in your shoes is priceless.
My advice as a parent,
Always get an explanation and try to understand the reason for every medical suggestion.
Some doctors told us that we were doing “too much”.
There is never too much with CHAMP1 as long as you, the parents can sustain it.
Push hard on the rehab, especially on the communication skills.