Family hosting fundraiser after 19-month-old’s ‘heartbreaking’ Cystic Fibrosis diagnosis as a newborn
A Northampton family is hosting a fundraiser after their 19-month-old’s “heartbreaking” Cystic Fibrosis diagnosis when he was just five weeks old.
Thiago was diagnosed with the condition following his heel prick test as a newborn, and pancreatic insufficiency has been his main symptom over the first year-and-a-half of his life.
His mother Shanique Alexander told the Chronicle & Echo that he struggles to digest and has to have enzymes in the form of medicine before any intake.
Thiago often gets a bad cough, which is treated with antibiotics, and his mother described the journey as having involved a lot of medicine and physiotherapy. His symptoms have sadly worsened as the months have gone by.
When asked how she felt when she found out her son had Cystic Fibrosis, Shanique said: “It was heartbreaking. We have a massive family on both sides and there’s never been any child born with a condition. Everyone has rallied around.
“Thiago is primarily Jamaican and Cystic Fibrosis is almost unheard of in our community. I believe around 96 percent of people with the condition are caucasian.
“I’m so proud of him and he’s really resilient. He knows no different but he is tough and takes it all in his stride.”
Cystic Fibrosis is a rare genetic condition that causes the body to produce thicker sticky mucus primarily in the lungs and pancreas. This mucus build up can lead to serious digestion issues and recurrent lung infections.
Cystic Fibrosis is caused by mutations in the CFTR gene and in order to be born with the condition, the child must inherit one faulty gene mutation from each parent.
This year marks the 60th year of the Cystic Fibrosis Trust investing in research, and the charity is now very close to the hearts of Thiago’s loved ones.
The family are no strangers to fundraising as a fun day hosted this time last year raised £1,300 for the same cause.
This year, Thiago’s nanny Kate and great aunt Helen will swim 21 miles in July to fundraise and show support to the charity. To reach the target, they will each complete 1,932 lengths of the pool.
Shanique hoped to get involved in the fundraiser herself but she is pregnant with her second child, who has not inherited Cystic Fibrosis.
When Thiago turns two, he will have access to modulator drugs that will improve his daily life. Some people with Cystic Fibrosis are unable to access these drugs depending on the gene mutations they have inherited.
As Thiago has one rare and one common gene, medical professionals believe he will respond well – but Shanique says it is “heartbreaking” that not everyone with Cystic Fibrosis can access modulators. This typically applies to those with two rare genes.
When asked what it would mean if the community supported the fundraiser and made a donation, Shanique said: “It would mean everything to us. The charity has become our whole world and we didn’t even know about it beforehand. Their research impacts us big time.”