.ava's story.

Another one of the cool things that we have experienced through this journey, is getting to connect with other Joubert parents all across the world. We have met some of the most amazing and inspiring families walking the exact same road as us and it is so comforting to have such a great support system.

Lindsay Little is one of those moms that I have had a chance to connect with through social media. We both belong to the Joubert Syndrome Parents group on facebook and have been able to message a little bit and hope to meet in person at the next JS conference. 

Lindsay was willing to share a little bit about their journey with their daughter Ava and what having a child with special needs has been like for them:

Ava was 7 months old when we noticed she wasn't meeting the average milestones. So we started therapy. 

Her PT noticed her right eye would turn in & that Ava wasn't using her right side. So Ava got glasses when she was 10 months old. She had an MRI that showed cysts on her optic nerves. We saw several specialist along the way, but no one could tell us why she wasn't meeting her milestones.

We started intense therapy, 4 days a week when she turned 1. She started crawling at 19 months!

Numerous doctors told us that Ava's MRI showed nothing abnormal about her brain. But as a mother, I knew something wasn't right. When Ava was 22 months, we flew to John Hopkins in Baltimore. I was assured that Ava would one day walk & that they would find out what was wrong with her.

 

After years of tears wondering what was wrong, we got Ava's diagnosis of Joubert Syndrome. I was crushed. My hopes & dreams for her were shattered. However, Ava has continued to surprise us. She took her first steps at 28 months & was walking by 30 months.

This girl has taught us so much about life. She is so strong. She continues to improve every day. She said her first sentence a month ago.

It's very difficult having a child that can't communicate with you. Tears have been shed for lack of communication. I have hope that one day Ava will carry a conversation with me. 

Ava will be 4 in March and it's amazing how far she has come in the past year.

Faith & hope in Jesus is what gets us through the day. He said he would never leave us nor forsake us, and he has surely been there for my family!

Thank you so much for being willing to share your story Lindsay! Ava is beautiful and we hope to meet you all in Chicago!