A young girl with a genetic condition so rare that only two other children in the UK have been diagnosed with it, are shaving her hair for her own safety.
Her mother, Sydney Miller, 2½, has been described as like a newborn by primrose syndrome, which affects only 50 children worldwide.
Mother of five, 36-year-old Stacey Miller, said Sydney showed no signs of being different from other children when she was born on March 18, 2020, before the first shutdown of the pandemic.
The first sign that something was going on was that Sydney couldn’t open one of her eyes, which raised fears that she might have been born without an eyeball.
She was diagnosed with Horner syndrome, where one eye is blue and the other is brown, and an indication of an underlying condition, which led to a series of appointments where doctors tried to figure out what was wrong.
The doctor who treated Sydney attended a seminar on Primrose Syndrome, which is so rare that even healthcare professionals should read about it on their own. The Google.
Sydney is a non-verbal language and her parents don’t know if she will speak or not.
In January, she got two hearing aids because her inner ear wasn’t fully developed, which means she has a hearing loss.
She can’t crawl or pull herself, so mom Stacey has to hold her, but she weighs only 20 pounds, the equivalent of a 6-month-old baby. Stacey said that children with the syndrome bear a physical resemblance to each other in a similar way to Down syndrome.
Stacey and her husband Stewart, 47, are self-employed and run a wedding car business in Dunbar, East Lothian, Scotland.
Sydney is now starting to go to a day nursery with extra needs as they have an occupational therapist and physiotherapist on site and health care workers nearby.
Stacey said the family is unsure of what the future holds due to the rarity of the disease, which was initially feared to be cancer.
Katielee Arrowsmith / Zenger
Stacey said: “When Sydney was born, she looked no different than any of my other children.
“As the weeks went by, not one of her eyes had opened and he thought it might be a blocked tear duct.
Then they thought she might be missing an eyeball.
“She was diagnosed with Horner syndrome, which means one eye is blue and the other is brown, causing her to sweat on one side of her body, sometimes red and white.
“She was sent for an MRI that ruled out neuroblastoma, and then they started doing genetic testing.
The geneticist who had seen her was at a symposium on primrose syndrome, and he said before the tests came back that he thought that was what it was.
“It’s extremely rare, there are only 50 children affected by it worldwide.”
Because of a pituitary cyst, Sydney may need hormonal treatment when she’s older.
Stacy added, “She’s nonverbal and we don’t know if she’ll be able to talk.
“She can’t crawl and she can’t stand.
“There is little research on primrose syndrome because it is a rare disease, the main feature being muscle wasting, scoliosis and autism.”
The couple realized that Sydney’s hair was a danger to the little girl when Stacey took a picture of her and realized she had bald spots on her head.
Stacey began to notice that Sydney was pulling tufts of hair from her scalp, which later came out in clumps.
Then she started chewing it and it became tangled in the feeding button on her stomach.
Her hair will soon be shaved off to stop a choking hazard, amid hopes it will grow out of her desire to pluck it out – which she describes as “looking for reflexes,” which also includes high-pitched screeching and hitting her heels until she is screamed. bruising;
Sydney has an unusually high pain threshold, and when her full set of teeth came in at 6 months old, the teething process didn’t bother her.
However, she was going through a pacifier every day because she couldn’t stop chewing on her, and her parents were afraid they posed a choking hazard.
Her full diagnosis was Primrose Syndrome, Horners Syndrome, Harlequin’s Syndrome, corpus cavernosum arrhythmia (underdeveloped brain before birth), pituitary cyst, enlargement of the head (abnormally large head), bilateral mild/moderate hearing impairment, delayed Global growth, non-verbal and non-mobile.
Sydney requires a gastrostomy or G-button feeding.
“She’s really happy, and she never cries unless she’s really okay,” said Stacey.
“When you smile, you light up the room.
“It’s hard to predict because we don’t know what to expect.
“All health professionals have had Google Primrose syndrome, so we’re very limited by what we already know, and it wasn’t discovered until the 1980s.”
Sidney has been treated at Edinburgh SEC Children’s Hospital, and nursery school will start when she is 3 years old.
“Covid was really difficult as only one parent was allowed into the hospital and I was trying to give what I was told to Sydney’s father,” said Stacey.
She said the family includes Sydney in all their activities, and will take her to Turkey on vacation in July.
She’s been to film and music festivals, with siblings Carson, 7, Brie, 12, Bradley, 14, and MacKenzie, 15.
They are looking forward to being able to move into a bigger house, as the three-bed house where they live is crammed with Sydney gear and has 21 steps up front.
“If her condition had been better known, it would have been easier,” said Stacey.
“No one knows day in and day out what her needs will be.
“It’s too small for a child of her age and wrinkled, it’s like a newborn.”
The family is raising funds for another young child, Flora Gentleman, 3, who needs cancer treatment abroad.
Stacy said, “Everyone is very interested in Sydney, and she has a lot of followers Facebook.
“I created a Facebook account for her just so people could keep up with her condition and her treatments.”
This story was provided to Newsweek by Zinger news.