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Providing Information And Support to Families Affected by Rare Genetic Diseases – Interview with Arti Patel, Unique

Arti Patel is an Information Officer at Unique, where she acts as the first point of contact on the helpline for people with queries relating to specific rare chromosome or gene disorders. Arti has Treacher Collins Syndrome (TCS) and highlights the importance of helping families affected by rare diseases connect with each other.

FLG: Can you introduce yourself and your work?

I’m Arti Patel and I’m an Information Officer at Unique, a charity supporting families and professionals with rare chromosome and gene disorders. Part of my role involves being on the helpline, answering queries from those newly diagnosed families and existing members who have a diagnosis of a rare chromosome or gene disorder. We also support professionals such as clinicians and genetic counsellors with information about specific rare chromosome or gene disorders.

FLG: Is there anything Unique does that is different?

We work very closely with many professionals to develop a chromosome and gene-specific disorder guide. Many geneticists and associated genetics professionals generously donate their time to Unique to help develop our information guides, and these are used by clinicians worldwide in their clinics. They are also used by families worldwide to help them understand their child or their own rare chromosome or gene disorder. They can also pass on the information guide to their friends or families, or in a child’s school and so on.

FLG: What motivated you to pursue a career in this field?

One of my main motivators is that I have a rare genetic disorder called Treacher Collins syndrome. I happened to meet Dr. Beverly Searle, Chief Executive at Unique, in a meeting with leaders who run genetic disorder support groups, and I was amazed at the support Unique provides to so many people. The charity does a lot more than provide support. They write information guides too. We have a database that collects information on many rare chromosome and gene disorders.

Growing up with a particularly rare genetic disorder myself, I went so long without meeting anyone who has the same condition as I do, and I know how important it is to meet someone who knows what you’re going through. You feel a weight lifted off your shoulders and feel like you don’t have to wear a mask. It’s a relief to find someone else that understands, and that’s what Unique also offers to lots of families.

FLG: Why are services like Unique important for families?

It brings together families who have a specific rare chromosome or gene disorders. Due to the rarity of these disorders, two families might be on opposite sides of the world. But thanks to technology, it’s now a lot easier to connect those families. Unique collects the lifetime information of families living with these disorders, adding to the knowledge of what real life is like. This information is so important to help families and clinicians understand what goes along with having a rare chromosome or gene disorder, and what help can be provided and what is needed to help these families live their full potential.

FLG: Are there any challenges that you’re having to overcome?

With the advances in genomic diagnostic technology, we’re seeing a huge increase in the number of members coming to Unique. Two years ago, around 150 new member families were joining us each month. Now, this has increased to over 250 member families a month. Unique is a very small team and we are entirely donations based. We don’t receive any government funding at all. So, one of our major challenges at the moment is funding. We have so many families to help, and we would love to do so much more. But the funding isn’t there at the moment to be able to employ workers to help these families as much as we can.

FLG: Why have you decided to participate at the Festival of Genomics this year?

Unique has been fortunate enough to participate in the Festival for the last 3 years. It’s been a fantastic opportunity to integrate and meet many other genomics professionals at the Festival. As a result from hearing Unique speak last year, we were contacted by a number of genetic counsellor trainees who were interesting in coming to meet us at Unique to find out what we do, how they can support us, and how we can support them. It’s been a fantastic opportunity to meet so many professionals and help spread the word about Unique and the support we can provide.

More on these topics

Charity / Patient Advocacy / Rare Diseases