Ellie is a delightful three year old with Aicardi and Turner’s syndrome. Her parents, Tiffany and Nathan talk about what a joy Ellie is to their family and how she has impacted their lives for good.
More Than a Diagnosis
The 20-week ultrasound is usually when families discover abnormalities with their unborn babies. Tiffany and Nathan were no exception. Tiffany recalls, “For her 20-week ultrasound, we went in typically excited to find out the gender. I didn’t think anything crazy. They said she had some abnormalities with her stomach..They sent me to Perinatology of Maternal Fetal Medicine at our local hospital.”
Each visit, doctors would discover more abnormalities with Ellie. During their fifth ultrasound Nathan recalls what the perinatologist said, “We are noticing some different things in her, in the formation of her brain.”
It wasn’t until Tiffany was in labor and close to delivering they received a definitive diagnosis. They have never heard of Aicardi syndrome before. They turned to family members who are in the medical field. However, nobody knew what it was either.
After a traumatic labor, Tiffany and Nathan only had one concern; getting baby Ellie here safely regardless of her diagnosis. Three days after she was born, they received another diagnosis.
“Turner syndrome deals with the sex chromosomes, so you have xx or xy and they said she’s x…they did even further testing, and it came back that she was very mosaic, like 1 in 200 of chromosomes have the xx where as everything else is x.”
This means that not every chromosome in Ellie is affected by Turner syndrome.
“She Proved Them Wrong”
Tiffany and Nathan wanted to give Ellie a chance to learn and eat on her own instead of relying on the assistance of a G-tube. Tiffany said this, “..we just kept feeling like we need to give her a chance to try and eat on her own. They didn’t think she could; they didn’t think she had the mental capacity, I guess. She proved them wrong, and ate like a champ.”
The Joys of Having a Child with Special Needs
When asked what the joys were of having Ellie in their lives, Nathan said this, “When you walk into the room, it seems like she lights up. Like she would rather be with you than with a toy…she wants to be in your lap or she wants to have your attention.”
Tiffany added, “She knows when people need love. She’s got a lot of love to give. About a year ago, it would take us almost an entire hour to walk down the hallway of our church because she wanted to hug everybody, even people she’d never met.”
Center of Attention
When their family visits others, Ellie is the center of attention. Bringing their immediate and extended family closer together. Tiffany said, “It has brought us a little closer, and everyone wants to be right by her…she’s got a fan base for sure; people just want to be around her.
Ellie is so loved in fact, it’s making it hard for her to reach her milestones! Nathan added, “We are trying to get her walking, and the problem is that I’m always trying to get people to put her down..which won’t happen if we are always carrying her around everywhere.”
“Don’t Lose Hope”
Finding out your child has been diagnosed with a disability can be difficult. Nathan said, “Don’t google it! Something when you initially start searching for answers, it seems like all you hear are the scary things and the worrisome things..it is good to know what those challenges are, but just don’t lose hope, because as soon as you can get past that and realise that you know there are some challenges, there are so many more blessings that come with that.”
He continued by saying, “I would say just hold on because you just gotta get through the hard part. Once you get them here, one you can hold them and once you can see their face, all of that fear goes away.
Tiffany also had this to say, “That initial part is so hard, and it’s okay to be sad for a minute, but once you get this little one, they have so much love and so much more than just a dang diagnosis. They bring out the best in everyone they are around, so I’d say to be hopeful.”