Margaret Tolman always knew her son, Ian (now 38), wasn’t simply ‘clumsy’, but, it took the Tolmans over 15 years of tests, questioning and misdiagnosis before a new type of genetic testing provided a conclusive diagnosis of Bardet-Biedl syndrome for their son. This is the Tolman’s story.

Ian’s parents knew early on something was wrong with their youngest child. He kept bumping into objects and couldn’t see well in the dark. He also had six fingers on each hand and six toes on each foot.

The Tolmans went from one clinic to another looking for answers. The breakthrough came when, during a routine eye check, the local optometrist noticed that Ian had unusual clumps on his retina and referred him to hospital for investigation. Following tests, Ian was diagnosed with an inherited eye disorder called retinitis pigmentosa (RP).

Margaret was sure this wasn’t the complete story, and continued to search for an answer. Eventually, Ian was referred to Professor Philip Beales at Guy’s Hospital Genetics Clinic, London.

Professor Beales took blood samples from Ian and applied whole genome analysis. This revealed that Ian had a mutation in the BBS1 gene, which is associated with Bardet-Beidl syndrome (BBS). Individuals with BBS typically suffer from deteriorating eyesight, extra fingers and/or toes and developmental impairment.

There is a genetic test for BBS but Ian was never considered for this, as a common feature of the disease is obesity, which Ian does not have.

With Sapientia, clinicians can record and retrieve all of a patient’s symptoms (or ‘phenotype’), alongside their genetic information, then they can link this with published literature to help confirm a diagnosis, all within the same web browser.

Although a diagnosis may not mean that there is a treatment available, just having this information is invaluable to patients and their families.

Margaret explains: “Getting a conclusive diagnosis has been helpful as we now know what syndrome Ian has, the stage he is at and how we can best plan for his future and help slow down any further deterioration.”

It also means that other members of the family can be made aware and get tested to determine if they carry the same recessive gene mutation.

Margaret continues: “We are very proud of Ian as he manages very well and is such a cheerful, strong character. He’s able to get around independently with a stick and can attend his college classes and make his own notes thanks to having some special speech equipment.

“Now with a conclusive diagnosis we do see ourselves as lucky,” concludes Margaret, “but it doesn’t stop us from hoping for a miracle cure.