14 Jul HELP NEEDED FOR TOT WHO IS DEFYING DOCTORS
LITTLE Max Kaczmar is both a medical mystery and a miracle.
Born with a genetic disorder so rare that doctors have not yet formed a diagnosis, he is nevertheless defying the odds.
The son that mam Rachel thought would not live has not only grown into a lively and chatty toddler of three and a half who keeps her on her toes, but he’s done so with a huge part of his brain missing.
He should not be able to walk or talk. But he can.
Rachel and husband Matt, from Kenton in Newcastle, can’t understand it – and nor can the doctors. But, amid ongoing uncertainty over Max’s many and varied problems, they are all delighted at his progress.
“They’re just as thrilled as we are,” said Rachel, 31.
“The neurologist has now said ‘when you see the child in front of us and look at his brain scan you would never think they are the same child’.
“It’s hard to believe.”
Max had not been expected to survive after the routine 20-week scan during Rachel’s pregnancy revealed he had a little brain and “massive spaces” in his head where the rest should be.
The devastating news came as Rachel was already at risk f1rom various complications which a termination could have made worse.
She said: “Then, the weekend after the scan, I started to really feel the baby kicking – and we felt he wanted to fight.”
She and Matt, also 31, prepared themselves for the worst, only to find there was another problem the scan had not picked up.
When Max was born, it was discovered his oesophagus was not connected to his stomach. Instead, his tiny windpipe was attached to his trachea so, at just six hours old, he needed corrective surgery.
“That was a bit of a shock,” said Rachel, who lists her son’s other problems.He has such a lot of different medical conditions. He also had a small hole in his heart and his kidneys were fused and in the wrong place – but they work.
“He has hearing problems and, last year, on his third birthday in September, he was diagnosed with autism.”
Those are issues she keeps at the back of her mind as their main concern is a shunt that drains all the fluid that fills the empty spaces in Max’s head.
“Nobody is sure if there’s just too much fluid made or if, because his brain tissue hasn’t grown, it’s just filled the gap,” said Rachel.
The shunt runs underneath the skin down the length of Max’s body to his abdomen and must be constantly monitored in case of breaks.
Rachel’s husband Matt is a doctor himself and even once saved his son’s life using a straw to suction the back of his throat when, at just three months old, he started choking from secretions.
So far, Max’s various conditions are a puzzle. Rachel said: “We don’t know if it’s one thing that happened that caused everything or if it was a bit of bad luck that he’s had different things going wrong very early in the pregnancy. For now, doctors are just calling it ‘multiple genetic abnormalities’.”
Rachel is heavily involved with The Chronicle’s Sunshine Fund and its annual Go Bananas appeal which, in 2014, bought a specialist bed for Max.
This year’s Go Bananas appeal aims to buy Max an iPad which Rachel thinks will help him progress even further with his communication and motor control skills which are behind his age range.