Changing minds and making plans: Q&A with Melika and her Genetic Counsellor, Anna

Melika Ghanaati recently ‘graduated’ from SickKids. As a long-time patient, she has navigated the complexities of an undiagnosed condition since infancy. Melika describes growing up with a rare condition as a cycle of hope and frustration, wondering if she would ever get an answer.  

Over the summer, she finally received a diagnosis for her rare condition – a PIEZO2 gene mutation. The diagnosis marks a significant milestone in her more than 15-year journey with SickKids, and opens a new chapter as she transitions to adult care.  

Anna Szuto, her genetic counsellor, has been a part of that experience since 2022. She was a key member of the team that helped deliver the genetic diagnosis to Melika and her family. In this Q&A, Melika and Anna reflect on the challenges and triumphs of their journey together.

Anna: How did you feel when you finally received your diagnosis? 

Melika: It was a mix of emotions. On the one hand, there was relief in finally having an answer after so many years. It took weight off my shoulders, and it finally explained a number of my symptoms. 

On the other hand, it’s not like you can give me a medication and it’s all good now. I’m still in the same place with my condition. I will say however that knowing the diagnosis has helped me connect to a community of people that are like me, and that has made a world of difference.  

Anna: And what has that community shared with you?  

Melika: A big question for me was, ‘will I be able to have kids one day?’ You connected me with someone with the same condition who actually is a mom. Hearing about her experience makes me feel hopeful that it’s something I could be able to do one day. Hearing from people that share similar experiences helps me feel less alone and gives me insights that help me plan for my future. 

Anna: If you could, what would you want to tell your younger self?  

Melika: Sometimes it’s easy to get stuck in the need for a diagnosis, or ‘what’s going to fix me’. It can overtake your mind. I would just say, ‘you are okay.’ Don’t worry about it so much that you forget to live.  

Anna: I am part of Precision Child Health at SickKids – the goal is to help people like you get their diagnosis faster and carve a new path for treatments or our ability to predict what might come next. Do you think SickKids can do it?  

Melika: If anyone can do it, it’s SickKids. The staff really care. I know people like you, Anna, that really wanted to provide me with answers. It felt really good to feel comfortable enough with you to bombard you with 30,000 questions about my future. When staff are equally as eager as you are for something, that’s what makes the difference!   

Anna: One last question — I saw that you surprised your graduating class when you walked on stage to collect your high school diploma. How will you surprise the world next? 

Melika: One thing about growing up with a disability is there’s a lot more opportunities to surprise people. I did physiotherapy for a year preparing for that moment – I even surprised my parents! For me, it’s exciting to think about breaking through stereotypes and changing the mindset around disabilities. I’m not ever giving up; I'm using the information I get and moving forward. We’ll see what my next surprise will be!  

Video provided by Melika Ghanaati

Before the conversation was over, Melika had a few questions for Anna too.

Melika: What’s your favourite and least favourite part about being a genetic counsellor?  

Anna: Everyone at SickKids is so motivated to provide the best possible care, and when you really want to deliver for your patient, it matters. Plus, we have access to the latest technology and research programs like the one that was able to get you your diagnosis. Being able to bridge research and care is definitely a favourite part of my job.  

Least favourite is when I have unsolved cases. I really want to be able to deliver those answers, but I’m not always able to do that. There are still families I think about for whom we couldn’t find an answer yet.   

Melika: Once you do deliver a diagnosis, what happens next? How do treatments get made, and how does it all work together?  

Anna: I have a role in Translational Genomics, which means I help bridge research opportunities with clinical care for patients like you. There’s a whole other arm of Precision Child Health called Advanced Therapeutics that’s dedicated to finding treatments for patients with rare diseases. It can be a challenge, because every treatment for rare disease needs to be tailored to that specific patient. Together we try to assess the genetic variant, we look at the medical literature, and we try to carve the best path forward in partnership with our patients. It’s a long and complicated path, but we’re dedicated to working through it to help ensure every patient can access the treatment that they may want or need.  

Melika: What’s something you wish you could say to people with rare conditions?  

Anna: Your condition doesn’t define you. You will be able to live a full life — what you shared with me today exemplifies that. You are an inspiration for many!