An Aberdeen mum hopes to build a community of families impacted by rare chromosome and gene disorders following her daughter’s diagnosis.
As far as the family is aware, four-year-old Tamaya Cruickshank is the only case of Floating-Harbor syndrome in Aberdeen – and one of only a few across the country.
Only about 50 cases of the rare genetic disorder have been recorded in literature with many medical professionals unaware of it.
For Tamaya’s family, receiving a diagnosis was a long and challenging process.
“I always knew something was not quite right, it was a mother’s sixth sense,” her mum Sisi Leon said. “She was too little, too small.
“I mentioned this to the health visitor when she was 10-months-old and they told me not to worry. I spoke to others too but nobody listened.
“It wasn’t taken seriously until she was 18-months old.”
Diagnosis after more than two years
The youngster was eventually referred to a pediatrician by her GP and had to go through a series of tests over the next two years.
“We had more than one negative experience during this time,” Sisi said.
The mum-of-two said some specialists were quick to jump to other diagnoses and the family felt “abandoned” by their primary carers.
Tamaya’s blood samples were also “lost” at one stage which meant she had to go through more painful tests.
“That was very difficult to see,” Sisi added. “She had to have lots of blood tests and every time she suffered a lot.”
Unaware of other Floating-Harbor cases in Aberdeen
In October last year, Tamaya received her diagnosis for Floating-Harbor syndrome at age three-and-a-half.
The rare disorder involves a short stature and characteristic facial features, as well as delayed bone age and speech development.
“It came out of the blue,” Sisi said. “Neither me or my husband carry a gene which would cause this.
“My daughter is doing ok, she’s not speaking and is very small. She’s almost four but she looks two-years-old.
“There are hundreds of genetic syndromes and families need more support. It can be very isolating.
“I do not have family here and as far as we know, she is the only case in Aberdeen. She is very unique”.
Building a community
Sisi wants to raise awareness of Floating-Harbor syndrome and find others who have been diagnosed to build a community.
She is hopeful sharing Tamaya’s story could lead to more training for NHS staff and further support for families with children living with rare chromosomal disorders.
After receiving the diagnosis, Sisi decided to start looking for other families impacted and fundraising, including for the charity Unique.
In June, Sisi will be joined by her husband, Neil, her seven-year-old son and Tamaya to take part in Aberdeen Kiltwalk .
As there is no dedicated charity for Floating-Harbor syndrome support, Sisi has decided to raise money for Children’s Hospices Across Scotland (Chas).
“I’d like to see a charity for Floating-Harbor in the future,” she said. “We know there a lot of challenges to face, but we’re learning a lot.
“And, Tamaya is doing really well – she’s a happy and sociable little girl.”
Any other families with children who have a chromosome or gene disorder can reach out to Sisi through her Instagram account – @aberdreamforeverybody.
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