Nfld. & Labrador

Harbour Grace family pins hopes on U.S. treatment for unborn baby with rare disease

Potter syndrome is a condition where the baby has not developed kidneys and there is little amniotic fluid surrounding it.

Kristen Penney expects to fly to Nebraska this week for treatment that is unavailable in Canada

Kirsten Penney is carrying a baby with Potter syndrome, a rare and often fatal condition in which the fetus has no kidneys and little amniotic fluid surrounding it. (Sherry Vivian/CBC)

A family from Harbour Grace is fighting for a chance to keep their unborn baby alive after it was diagnosed with a rare disease called Potter syndrome — a condition in which the fetus has no kidneys and there is little amniotic fluid surrounding it.  

Kirsten Penney's baby was diagnosed with the fatal syndrome at the Health Sciences Centre on Dec. 18 — her 39th birthday.

After the diagnosis, Penney says doctors gave her and her husband, Paul Fitzgerald, tough choices.

"We were given the option to continue the pregnancy, knowing that the chances of the baby surviving were very little. And if the baby did survive, the baby would probably only live minutes after birth. The other option was to terminate the pregnancy right away," she said in a recent interview with CBC News.

The couple went home and started researching Potter syndrome, and found a clinical trial in the United States in which some of the babies survived after fluid was injected into the amniotic sac.

Penney and her husband, Paul Fitzgerald, are flying to a private doctor's clinic in Nebraska to seek experimental treatment. (Submitted by Kristen Penney)

"The technology is the same as an amniocentesis, but it's done in reverse," said Penney, who also miscarried in May.

"The treatment is going to give the baby a chance to survive, and at this point, this is what we're fighting for, the chance of survival."

But the clock is ticking. Penney, who is now 23 weeks pregnant, says she needs the treatments to begin over the next three weeks.

"No doctor will do an infusion after 26 weeks because the lung development, at that point, would be halted for too long. So we have a three-week window now for injections," she said.

Experimental trials in the U.S.

Penney says her doctor in Newfoundland and Labrador was denied permission to provide her with the infusions because the procedure has not been proven.

She says they're the first Canadian family to be preliminarily accepted into a clinical trial called renal anhydramnios fetal therapy at the Johns Hopkins Children's Center in the United States.

WATCH | Kirsten Penney tells the CBC's Heather Gillis why she is fighting for her unborn baby's health: 

Not giving up hope

CBC News Newfoundland

3 months ago
2:42
Heather Gillis reports on a Harbour Grace family searching for a solution, after learning an unborn baby has a rare and often fatal condition 2:42

They can participate in the trial only if they're funded by the provincial government, because the trial doesn't take out-of-pocket payments. But the province's Medical Care Plan does not cover experimental trials.

In a statement, a spokesperson for the Department of Health says in order to have publicly funded treatment outside the country, the requesting physician "must be able to demonstrate that the out-of-country service proposed is an insured service and is not offered in Canada."

But Penney isn't giving up. This week the family is expecting to fly to a private doctor's clinic in Nebraska instead to have the fluid infusions, after people have donated flights and hotels to the couple.

"If we don't make the first step and get on that plane and go to Nebraska, we'll never know," she said.

Three-month-old River was diagnosed with Potter syndrome but has survived after having 23 fluid infusions, says her mother, Ivorie Nicole. (Heather Gillis/CBC)

Penney acknowledges the risk associated with the procedure and knows it might not save her baby.

"Not every person who goes through the infusions will be lucky enough to bring their baby home, but they're lucky enough to give that baby a chance," she said.

"The only concern that most mothers ever have when they're pregnant is is there a heartbeat? Is there a heartbeat? And every appointment that you go to, you see that heartbeat, you hear that heartbeat, and it makes it very difficult to give up on the child who has a heartbeat."

If Penney receives the infusions and the baby survives, she says her child will need dialysis to survive until it is big enough for a kidney transplant.

Survivors a source of hope

Penney has found a source of hope in American families who have had children survive after having treatment.

Ivorie Nicole's three-month old daughter, River, who was born on Oct. 13, also has Potter syndrome. 

"Historically none of these babies survive," she said during a FaceTime interview while holding River at the Rady Children's Hospital in San Diego.

"She has survived, she's living, she's thriving, she's doing wonderful." 

Penny with her four-year-old son, Lee. (Submitted by Kristen Penney)

Nicole, who was a participant in the RAFT trial, says she had 23 infusions over the course of her pregnancy. She says doctors discovered River had no kidneys — bilateral renal agenesis — at her 22-week ultrasound.

"We had two infusions a week where I went under general anesthesia and the doctor would put saline, a mixture of saline and certain antibiotics, into the birth cavity," she said.

She says River was born at 35 weeks and four days later had surgery to have a dialysis catheter placed in her body.

The baby has been in the neonatal intensive-care unit since she was born, but will go home once Nicole is trained to use an at-home dialysis machine.

"It makes me feel so blessed and like nothing's impossible," she said.

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