Babies, parents fight rare disease

Krysta
Krysta Carroll
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Grand Falls-Windsor mothers fundraising for medical equipment

Four-month-old Gracie Reid and 10-month-old Marcy Mercer of Grand Falls-Windsor have a lot in common. The girls have persistent hyperplastic primary vitreous, a rare eye disease which occurs in the province once every one to two years.

Grand Falls-Windsor — Two babies in Grand Falls-Windsor have more in common than their hometowns and their year of birth.

They both have a rare eye disease.

Dr. Donna Bautista, pediatric ophthalmologist at the Janeway Children’s Hospital in St. John’s, usually sees a case of persistent hyperplastic primary vitreous (PHPV) every one to two years.

“I am not sure of its incidence in the normal population, but it is a common cause of congenital cataracts,”  Bautista said.

“It was surprising to have two cases within a few months of each other in a small community.”

Ten-month-old Marcy Mercer and four-month-old Gracie Reid of Grand Falls-Windsor both have the disease, which Bautista said has more recently been called persistent fetal vasculature (PFV).

“It is caused by failure of normal disappearance of the fetal blood vessels which nourish the developing baby’s eye,” Bautista explained. “This is a congenital condition, meaning the child is born with it. It forms a thick membrane inside the eye, which can extend from the lens of the eye to the back. Complications therefore can include cataracts, glaucoma and retinal detachments.”

Marcy was born in March and wasn’t even a day old when a doctor noticed there was something wrong with her eyes.

“She was 2 1/2 weeks old when she had her first surgery,” said Louise Mercer, Marcy’s mother. 

“It all happened pretty fast.”

Marcy saw a physician in Grand Falls-Windsor who referred her to Bautista.

“Dr. Bautista did what she could do out there and then she referred us to Halifax,” Mercer said. “We were there for almost a month.”

After surgery, Marcy’s treatment included medicated eye drops, cream and an eye patch.

“Marcy’s situation is different than Gracie’s,” Mercer said. “Marcy had a tumour on the back or her eye, a membrane, and it grew back in a month.”

They had to head back to Halifax for a second operation.

Bautista said surgery is necessary to remove the cataract and membrane.

“More surgery may be required if there are problems with glaucoma or retinal detachment,” Bautista said.

Mercer said after the second surgery, Marcy developed glaucoma, meaning more eye drops, creams and patches, and constant trips back and forth to St. John’s.

“We are at the point now where she is just on the one (eye) drop and she goes back every two months,” Mercer said.

“I was informed that the medication is only going to work for so long, so (at some) point in time she is going to go blind. It’s just a matter of when and how and where to and how old.”

Gracie is still making weekly trips to St. John’s to get her eye pressure tested.

“Now I am waiting for her second surgery in Halifax,” said her mother, Laura Janes.

Gracie was born in September and was diagnosed at a later age than Marcy.

“They missed it at birth but she was born with a congenital cataract on her eye, they thought that’s all it was,” Janes said.

“The whole black pupil of her eye was white. It was picked up at about a week and then at about two weeks we were off to St. John’s, and about two weeks after that we were off to Halifax for her surgery.”

Janes said the doctors in Halifax thought they were just removing the cataract.

“It was during her surgery they found out that she had PHPV,” Janes said. “They went in to remove the lens that her cataract was attached to and found that behind that she had PHPV.”

The disease affects the right eye in both girls.

Gracie has vision in her right eye.

“Marcy has no vision in that eye,” Mercer said. “That’s the goal, they are trying to get vision back in that eye. She used to follow the light before, but now she doesn’t even do that. It can spread to both eyes. Hopefully it don’t get to that point and they can control it in the one eye.”

The girls both wear glasses for sight and protection against the light.

There are also secondary problems associated with the disease.

“Blindness is definite,” Janes said. “That’s from the glaucoma. The medication that the girls are on, there are all kinds of side effects. The medication that they have is not recommended for kids but they have to have it.”

Bautista said an eye with its lens removed will always be at a disadvantage because the child will prefer to use their functioning eye.

“Proper optical correction with glasses, contact lenses or a lens implant (generally done when the child is older) along with aggressive patching therapy will help this eye achieve its best possible vision,” Bautista said.

“Having one eye that doesn’t see as well as the other should not limit their potential to live normal lives.”

Mercer says the disease is so rare, the pediatrician in Grand Falls-Windsor said he has only ever seen it in textbooks.

“What’s the odds that Marcy and Gracie, born in the same town in the same year, having it?” she said.

The two mothers did not know each other until last fall but have developed a friendship now.

“Laura contacted me one day and asked me what kind of surgery Marcy had on her eye and I just informed her the best way that I knew how,” Mercer said.

“I was where she is now, the constant trips back and forth to St. John’s, and referring to Halifax all the time, and the medications and not knowing what was what.”

Costly venture

Along with the trips out of town, medicated eye drops, glasses and special contact lenses are expensive.

“It’s beyond costly,” Janes said. “We had all that we could do to get MCP to cover their surgeries in Halifax.”

Mercer said the hospital room in Halifax was $1,000 a day.

“Who has that kind of money?” Mercer said.

“Nobody has that kind of money that they can just chuck out $7,000 for a week for a room for their daughter to stay in a hospital.”

Mercer said MCP paid a portion of the costs and for the cost of the surgery. The remainder is being paid out-of-pocket.

She’s paying the bill off while Janes waits for one to arrive.

Since Bautista is the only pediatric ophthalmologist in the province, the families have to constantly travel to St. John’s for medical treatment.

“Everything we had to do is in St. John’s,” Mercer said. “And it shouldn’t be like that. We’re still going to have to go to St. John’s, but not every week. We can go here every week and get the pressures read.”

The moms say there’s a tonometer — used to test eye pressure — at the local hospital, but there is no one at the regional health authority trained to use it.

Mercer and Janes are fundraising for medical supplies.

“The fundraisers, first and foremost, will be for the equipment — anything after will be there for the girls’ travel and medical prescriptions, glasses, etc., that they will both need for the rest of their lives,” Janes said.

“She is fine now,” Mercer said of her daughter. “Eventually she will go blind. It’s not something that we’re dealing with for the first year of their life, it’s the next nine, 10, 12. It’s the rest of their lives.”

The Advertiser

Geographic location: Grand Falls-Windsor, Halifax, Grand Falls Janeway Children

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Recent comments

  • random lou
    August 28, 2012 - 12:36

    This is such a sad story! That young girls have to go through such trying situations, and they don't have any idea why it's happening to them. And adults complain about having to wear contact lenses. It's frustrating when medicine isn't advanced enough yet for the cases it needs to treat.

  • Victoria Browne
    September 23, 2011 - 14:26

    I read your story about these two mothers and feel very moved and inspired. I am a 26 year old, married pending-attorney in New York City. I was born with PHPV, glaucoma, and cataracts in my right eye and have dealt with the consequences my entire life. My operations left me blind in my right eye. I also have an extreme astigmatism in my left eye and wear a -425 prescription. Yet, I have never felt limited and have achieved everything that I have set my mind to. I even maintain a driver's license and have to say that I am the safest and best driver I know! I wanted to reach out to these women and let them know that their baby girls will be just fine, more than fine, and to let them know I am happy to answer any questions they may have of someone who has the condition.

  • Frank Blackwood
    February 05, 2011 - 12:24

    When you are on the outside of the fence looking in on the Health Services available in Newfoundland, all seems so cold, confusing and spineless sometimes from people who supposively are in charge. How come they make life more difficult for people? It's becoming like the Unemployment Insurance Office in Ottawa. They think they own the place and will decide if you get assistance or not. Newfoundland was always recognized world wide for its excellent health service in the 1970's. It all seemed to take a sour turn when Dr. Charles Roberts retired as president of The Canadian Mental Health Association. Dr. Roberts brought the best doctors to Newfoundland. There were excellent social workers and nurses, not saying we don't have any today. The Eastern Health must be able to do something right than making patients so stressed over getting adequate services. What is in store for those who need the service we pay for?