One in a million: Rare genetic disorder means this toddler smiles with her eyes – TheChronicleHerald.ca

This week, we're profiling five very special Maritime families who have children with rare genetic disorders. This is the fourth article.Read more about the series by Lifestyles editor Jen Taplinhere

Ivy Stewart cant move her face, but she smiles with her eyes.

The adorable blond, wispy-haired two-year-old has big blue eyes, pink toddler cheeks and a tiny little mouth. She also has Moebius syndrome, which means theres no movement in the muscles in her face.

She doesnt blink. Instead, her eyes roll up and back every few minutes.

She loves everything, says her mom, Emily.

Even with not having expression, she finds other ways to express herself. With Moebius syndrome they say smile with your heart, and we say she smiles with her heart or her eyes.

Its a busy morning at Ronald McDonald House in Halifax as the Stewart family Emily, Craig and their three kids: Olive, 5; Ivy, 2; and Levi, 11 months preparesfor the long drive back to their hometown of Woodstock, N.B.

Ivy is sitting in a high chair, draining a package of apple sauce while her baby brother cuddles mom and big sister attacks a colouring page.

Its a five-hour drive but a 45-minute air ambulance ride from their home to the IWK Health Centre in Halifax. They should know, theyve had to take Ivy by air ambulance three times in her short life.

One airlift when she was little, they had to do an IV from her head because her veins were so small. They had to poke her quite a few times because her veins kept blowing, said Emily.

Airlifts are always emotional, she adds.

The last one was in January because of a breathing problem. Ivy has small airways and a respiratory infection can turn dangerous fast. They were back in Halifax in February for a tonsillectomy so that the next time she has swelling in her throat, there will be more room.

Making the trip to Halifax is something theyve grown used to since their second child was born. It was at the 20-week ultrasound when their doctor in New Brunswick told them their baby had club feet, was very small and had a lemon-shaped skull.

Ivy didnt cry when she was born. She wasnt breathing much either because she couldnt open her mouth.

Emily and Craig didnt have the time to process the situation in those first few days.

It was Day 4 and I got discharged (from the hospital) but she was still in, says Emily.

Someone came behind me with their baby and I just remember that moment I broke down and cried because that was the moment we realized we were leaving without our baby.

For Craig, that breakdown came after weeks of daily hospital visits.

Thats when I was able to comprehend everything and get it through my brain, he says.

As their baby grew, they noticed when she cried there was no expression on her face. When Ivy was two months old, they had an appointment with the genetics clinic, where they started the process of testing and waiting months for the results to come back.

Then at six months she got respiratory syncytial virus, a serious respiratory illness.

She was in the hospital in Fredericton, struggling to breathe while having undiagnosed seizures. She was airlifted to the IWK, where she saw specialists who ended up diagnosing Ivy with Moebius syndrome, a rare genetic disorder.

To see the little blessings in things like that is how we have to take it with ourselves. Even though its an emotional experience to look back on it, the blessing from it is we came out with all the new doctors that she needed, Emily said.

It was just a relief, that feeling to just have an answer. And then when we had an answer, we had a path to move ahead.

Having a diagnosis meant getting Ivy on seizure medications that made a big difference (she hasnt had a big seizure since July), and setting up a care regimen that involves eye drops once an hour and ointment three times a day. Shes eating now, but she was mostly fed through a gastrostomy tube until she was 18 months old.

Doctors at Toronto Sick Kids have developed a smile surgery for kids with Moebius when theyre four or five years old, and Ivy is considered a good candidate. Surgeons will take a muscle from her thigh and attach it to her jaw. Through physiotherapy, shell learn to activate it.

Until then, weve been showing her how to push her fingers up and make a smile, which is something we learned from other parents, Emily says.

Connecting with parents of children with Moebius syndrome or other rare genetic disorders makes a big difference.

Its huge because you dont know what to expect, and in general people can sympathize but they dont really understand the extent of everything, Craig says.

It was actually really nice to meet some other families and talk to other people that either had similar experiences or very close to being the same.

Adds Emily: Even if youre not going through the same thing, everyone can relate to the hospital life.