Nfld. & Labrador

Experimental treatment working for unborn baby with rare disease, says Harbour Grace woman

Kristen Penney is receiving injections at a private clinic in Nebraska for her fetus, which has Potter syndrome — a rare condition in which a fetus has no kidneys and has very little amniotic fluid surrounding it in the womb.

Kristen Penney receiving injections at private clinic in Nebraska for fetus with Potter syndrome

Kristen Penney is carrying a baby with Potter syndrome, a rare and often fatal condition where they baby has no kidneys and little amniotic fluid surrounding it. Doctors in Newfoundland and Labrador told Penney if she didn't terminate the pregnancy the baby would likely die shortly after birth. (Sherry Vivian/CBC)

A family from Harbour Grace says an experimental treatment they're receiving in the United States to save their unborn baby with a rare disease is working.

Kristen Penney, 39, is pregnant with a fetus that has Potter syndrome — a condition in which a fetus has no kidneys and little amniotic fluid surrounding it.

"The doctors have done some scans, and the lung development of the baby, at this point, everybody is very impressed with. They're seeing more development than what they normally would after six infusions," Penney said from Nebraska in an interview Saturday. 

After her 20-week ultrasound on Dec. 18 in St. John's, Penney said, Eastern Health doctors gave her tough choices: terminate the pregnancy, or continue it, knowing the baby would likely die shortly after birth.

Penney and her husband, Paul Fitzgerald, decided to seek experimental treatment at a private clinic in Omaha, Neb. In January, their U.S. doctor began the treatment, which involves injecting fluid into the amniotic sac. While the treatment won't help the fetus develop kidneys, the fluid will help its lungs develop.

"Every appointment when you're putting in the fluid, we actually get to watch the baby practising breathing," said Penney, who is now in her third trimester.

Penney says her baby boy is now just over two pounds, which is halfway to the weight he needs to be in order to receive dialysis once he's born.

She says they're scheduled to leave Nebraska the first week of April, but she is "unsure of exactly what that path home is going to look like" because of COVID-19 restrictions at the border. Still, she hopes to deliver the baby in Halifax at the IWK Health Centre.

"Their nephrology department is quite capable of taking care of the dialysis once the baby's born and there will be approximately a two-month stay in Halifax before we get to come back to Newfoundland with the baby."

Experience with Potter syndrome

While she's in the U.S., she said, she's comforted by her U.S. doctor's experience in treating babies with Potter syndrome.

"It's an amazing feeling. The doctor down here has done this for a number of years, he's had a number of success stories," she said.

"One little girl was actually born two weeks ago. He told us in one of our appointments, actually, that out of all of the bilateral renal agenesis babies that he's treated, every one of them has been born breathing. He hasn't had one that passed away because of breathing issues, which was Eastern Health's biggest concern."

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

Fundraising for treatment

As of Monday, Penney had received seven fluid injections, and will now start receiving two each week. She's using GoFundMe and other fundraisers to pay for the injections, because although Newfoundland and Labrador's Medical Care Plan will cover provincial rates for her routine prenatal care while she's in the U.S., it doesn't pay for experimental treatments.

She says her doctor is writing a letter to the provincial government to try to get them to cover some of the costs of the infusions, as she says he believes the treatment is proven.

"There's several people back in Newfoundland, over the last number of years who've been diagnosed with this, and the only options have been termination or, you know, the baby passing after birth," Penney said. "So we're hoping that our story is going to change how other people are affected by this in the future." 

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