As a baby, Merritt Smith met milestones—sitting, crawling, all around typical time frames.

But at a year old, in August of 2016, walking eluded her.

“She’d pull herself up with a couch or chair and kind of move along that,” said her mom, Jordan Smith. “At 18 months, she still wasn’t walking.”

In March of 2017, Baby Merritt started physical therapy in hopes of catching up developmentally.

“The first month she started progressing quite a bit, then it plateaued,” Jordan said. “She never laughed, she didn’t talk much.”

Jordan and her husband, Kenan, who live in Middleville, Michigan, feared there may be deeper issues with their baby girl.

On Mother’s Day, while dining with family at a Bob Evans restaurant, Merritt started choking on her French toast.

“She was turning blue,” Jordan said. “My husband did the Heimlich but nothing came out. We just thought maybe she didn’t chew it enough and it lodged in her throat. She started breathing again. We were good.”

A minute later, it happened again. This time, Merritt had no food in her mouth. Jordan and Kenan rushed her to the nearest emergency room.

“By this time she was at least breathing and responsive,” Jordan said. “They did X-rays. Everything looked normal.”

Merritt’s primary care doctor referred her to a Spectrum Health Helen DeVos Children’s Hospital pediatric neurodevelopment specialist, where she underwent multiple tests.

“We were thinking maybe she had cerebral palsy, spina bifida or muscular dystrophy,” Jordan said. “But the tests all came back perfect. She didn’t have brain damage, a tethered spinal cord or anything. While we were waiting for those results, we went to wake her up one morning. She was unresponsive and pale. We rushed her to Helen DeVos (Children’s Hospital).”

By the time they arrived, Merritt’s symptoms had subsided.

“They told us, based on what we had told them, that they thought she had had a seizure,” Jordan said. “They ordered a sleep study and EEG. We did the EEG and found out she has abnormal brain activity. When we did the sleep study, we found out her oxygen was dropping below 60 percent when she was sleeping.”

A medical mystery

Jordan and Kenan recalled other times they tried to wake their daughter and she seemed out of it.

“She had probably been having seizures for a while and we didn’t know it,” Jordan said. “On Mother’s Day when we thought she was choking, it was probably a seizure. She goes pale and is completely limp and lifeless. Her lips are blue and her eyes are just looking up and to the left and she’s not blinking or responding.”

A terrifying scene for anyone, especially Merritt’s parents.

“When she has them, my husband and I will hold her,” Jordan said. “One of us keeps a hand on her stomach to make sure she is breathing while the other one gets her hooked up to oxygen. You get used to her having them, but it’s still really tough.”

Seizures occurred a couple of times a week, then increased to a couple of times a day.

Merritt takes seizure medication twice a day, which seems to help.

“She still has a couple every now and then, especially if she gets sick,” Jordan said. “She got a fever one day when she was at day care and it caused a grand mal seizure. She was unresponsive and she was jerking like crazy, which has not been her normal. I got to her day care right as the ambulance did. We rode to Helen DeVos Children’s Hospital in the ambulance with her. They said it was the fever that triggered it.”

But why? Every kid gets fevers. Not every kid suffers seizures. And why were Merritt’s muscles so weak that she couldn’t take in enough oxygen while sleeping?

The missing piece

Merritt underwent genetic testing in July of 2017. The results stunned—Merritt is missing a sizable piece of her ninth chromosome.

Caleb Bupp, MD, a Spectrum Health geneticist, said Merritt is missing 7.4 percent of that chromosome, which is substantial.

“This particular condition is quite rare and it has only been reported in a few cases in Europe,” he said. “We are not aware of another patient in the United States with this chromosome deletion.”

From what he’s researched, such a chromosome deletion can cause developmental delays, autism, seizures and learning difficulties.

“But much of that is difficult to put into context because we do not have many patients to compare her to, so it does make it more challenging to understand all this,” Dr. Bupp said. “That is quite common in rare conditions—the uncertainty that patients and families have to deal with. However, all the patients seen previously with this deletion have had seizures. So we do think that is the cause.”

Dr. Bupp said Merritt continues to make progress with her development, but managing the seizures has been challenging.

“Her prognosis is uncertain, again, based on the rarity,” Dr. Bupp said. “There doesn’t seem to be anything inherently lethal about her chromosome deletion, but certainly the seizures that come with it put her at risk. Knowing the cause of her health concerns is really the first step—then we move on to what to do about them, which is where she is at now.”

Merritt began walking right around her third birthday last August and started school at Ken-O-Sha, a Grand Rapids-area special education center.

“She’s doing really well,” Jordan said. “She’s walking all over the place now, something we didn’t think was going to happen. She has a handful of words and is starting to talk more. We can understand what she’s saying at least. She’s progressing very well. It’s pretty amazing.”

Even though the future is unknown, knowing what has been causing the seizures gives the family a sense of relief. They had so wished it was something that could be cured, but you can’t fix a chromosome deletion.

Instead of focusing on the mystery, now they’re focusing on the miracle of Merritt.

“She’s very easy going and almost never cries,” Jordan said. “She is very mild tempered. She loves laundry. Give her a basket of laundry and she will sit there for hours and play with it and twirl it. She gets super excited when she sees laundry. And she loves Minnie Mouse. It’s the only thing she’s ever really recognized.”

Jordan said it’s difficult because they can’t compare Merritt to other children her age to gauge how well she is doing because there’s no one in the country with this genetic deletion.

“We’ve been more at ease knowing this genetic deletion is the root cause of everything, but will she ever catch up?” Jordan said. “It’s Merritt’s world and we’re just living in it. It’s her timeline and we just have to wait for things to happen. She is perfect and we wouldn’t change her for the world.”