Edeana and Hope’s Story

Hope was only a few days old when she was transferred to the Children’s Hospital of Eastern Ontario (CHEO). Little did we know, this was a start of a very long journey.

Hope spent the next few months at CHEO, fighting for her life. Right away the doctors recognized there was something special about her. She was unable to control her temperature, she had very poor muscle tone, she was unable to feed properly. We could not find a reason for all the issues, that could explain why.

This started our long journey with Genetics, we had multiple tests, blood, muscle, and skin all in the hopes of understanding what condition Hope had. Sadly, test after test, there were no answers. It was a very long painful process, every day not knowing what the next day would bring, not knowing what to expect, and wondering what my little girl's future would look like.

As a parent, there is nothing harder than not having answers, wanting to help your child but being so helpless.

Then one day our luck changed. We asked to try genetic testing once again, because new tests were available due to advancements in the Genetics field. CHEO asked if we would be interested in meeting with Dr. Dyment to look into new testing. Of course, at this point Hope is now a teenager and we have been, hoping every day that we will still get answers. So we're excited and hopeful this maybe, this is our chance to find an answer to finally know what the road ahead of us was going to entail. Dr. Dyment then explained the Care4Rare program, including all of the steps and the process.

One of the obstacles we would face was that I was raising Hope as a single parent because her father had passed away when she was 5 years old. I was concerned this was going to cause an issue, with us not being able to have a sample of his DNA. However, Dr. Dyment and Care4Rare teamed up and were able to get a specimen of his DNA. It was frozen and stored at a local hospital, they took all the steps needed to have it released for the purpose of trying to get a diagnosis for my little girl. It was an essential part of the process, we need it to confirm any mutation or changes they might see. No one was going to just give up, everyone was going to work together to try to give us answers.

Then the day came, I received a call for an appointment, and to my surprise, Dr. Dyment was happy to let me know he had the answer I had been waiting years for. It felt like a huge weight had been lifted on me, I finally knew what made her so very special. Without Care4Rare, we would never have gotten an answer. PURA syndrome is a rare and recently discovered condition. There are no physical traits associated with PURA syndrome, so it is impossible to diagnose without testing like those used in Care4Rare. I now finally have a sense of peace, knowing we now have an answer and we can now, just go on facing every obstacle and continue living. No more fears of never knowing and feeling helpless, because I finally got the answer to why my girl is so special.

- Edeana, Hope’s Mom