Charmaine Ferriggi had a healthy pregnancy – like others before and after her, she had been told not to worry much about genetic diseases as they happened to one person in a million.

“Who would have told me that that one person would be our daughter Kate? The odds of Kate’s condition are one in seven million… I don’t regret it one bit, but you can never think that it won’t happen to you,” her mother told Times of Malta as the four-year-old cuddled up next to her, tapping a tambourine.

Kate suffers from a rare genetic disorder for which there is no cure: Tatton Brown Rahman Syndrome.

She needs three to four hours of therapy every day, costing €2,500 a month. Her parents are now seeking to purchase a robotic aid training system, and they need help.

Kate lives with Tatton Brown Rahman Syndrome, a rare genetic disorder for which there is no cure.

Kate was born in 2019 weighing 4.36kg and was treated in the paediatric intensive care unit for hypoglycaemia.

For the next few weeks, her parents Charmaine and Daniel were told she was a healthy baby.

“However, I felt there was something off but I couldn’t place my finger on it. When Kate was six weeks old, she went through screening following what I thought was a seizure. By three months Kate had started physiotherapy and occupational therapy,” Charmaine explains.

Following further tests in Malta and the UK, it transpired that Kate suffered from developmental delay, had two holes in her heart, eyesight difficulties, an abdominal wall defect and needed oxygen to breathe well at night.

The tests were continuous as was the therapy and interventions.

Apart from open heart surgery, she also underwent tendon lengthening surgery in both ankles.

Kate was diagnosed with TBRS at 16 months. About 200 people are known to have this condition in the world. Kate is the only person to exhibit her particular variation of TBRS.  

“We had initially been told Kate would remain immobile but when at 22 months she sat up on her own, we became hopeful,” Charmaine said.

Since then, Kate has been able to feed herself some food, tap on musical instruments and move her upper body when hearing music, and also stand briefly on her feet while being held.

She has also started to make some babbling sounds, and will let you know when she is bored – such as when an interview with Times of Malta is taking too long and she would rather play her musical instruments.

Kate's parents are constantly stressed that they will not keep up with her therapy bills. The state support they receive is minimal.

“In simple terms, she suffers from overgrowth in parts of her body, with other parts, including her brain, not keeping up. It’s like you and I were born automatic, and Kate is manual: our body instinctively knows how to do certain things but Kate’s has to learn everything.

“She needs continuous practice to learn new movements and develop strength. When other schoolchildren return home from school, they usually rest or play. Kate instead has three to four hours of therapy.

“It’s tough on her… and us. I had to stop work, but with the help of my colleagues, who pooled their leave and transferred it to my leave allowance, I could focus on Kate,” her mother adds.

Daniel said the couple is constantly stressed that they will not keep up with her therapy bills. The state support they receive is minimal.

“We live our lives knowing that if we don’t manage to put together the money by the end of the month, she won’t get the full therapy.”

'The longer we wait, the worse she will get'

Charmaine and Daniel say that despite all, they try to remain positive and jovial.

But Kate’s journey gets more complicated with every passing week. They have been told she might eventually suffer leukaemia and, separately, lose her eyesight.

“Her eyesight is already bad, and we don’t know when she will lose it all – we can only hope it’s not in the near future. There is nothing one can do about it and that’s really painful for us,” Daniel says.

Kate has been able to feed herself some food, tap on musical instruments and move her upper body when hearing music, and also stand briefly on her feet while being held.

“Since there is nothing we can do about her eyesight, we have to focus our efforts on improving other things.”

Right now, Charmaine explains, they are focusing on Kate’s communication and mobility.

“We’d like to see her become as independent as possible. The next step is an intervention in her legs to help with her stability and buying her a robotic walker – both of which will come at great cost, totalling at least €75,000.

“The longer we wait, the worse she will get, so time is of essence.”

You can help Charmaine and Daniel through BOV Pay or Revolut on 7905 1866 or 7953 6969, or also through BOV account under Charmaine Ferriggi: MT75VALL22013000000040023060799.

For more information about how to help visit puttinucares.org