Child’s diagnosis spotlights under-diagnosed disease

By Josette Keelor

FRONT ROYAL — Jozie Palmer seems like any other happy 5-year-old girl. She plays with her younger brother Scott Jr., or S.J. for short; she loves Walt Disney’s “Frozen” and “Tangled,” and she’s preparing to start kindergarten this fall.

That’s why her mother Renee Palmer said it was so difficult leaving her at the University of Virginia Medical Center for surgery to remove several arteriovenous malformations in her brain.

After Jozie was diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) in June of last year, an angiogram in December found the malformations, and Jozie had surgery on Jan. 13.

“[I’m] looking at my happy, healthy 4-year-old little girl, bouncing off the walls doing everything 4-year-olds do, and I’m sending her off for brain surgery,” Palmer recently remembered.

“I was so fearful that she wasn’t going to forgive me and that she would come back mad,” Palmer said. “And there were a lot of things that she could have lost during that surgery.”

The left frontal lobe of the brain controls speech, memory and emotions and are all things that Palmer said could have been affected when neurosurgeon Dr. Kenneth Liu removed the malformations — abnormal connections between arteries and veins that divert blood from its normal pathways and causing a lack of oxygen to Jozie’s brain.

For the first two days after surgery, Jozie didn’t cry or laugh, even on the second day when she was less medicated. On the third day, Palmer tried acting as goofy as she could until her daughter cracked a smile.

“That was her first emotion, was laughing, and then she cried to come home,” Palmer said. “It was great.”

“Once we got home, it was like overnight,” Palmer said. “She woke up the next morning like nothing had ever happened. They told us that kids are resilient and they respond best in their own comfort zone, and she really did.”

Then, two weeks later, the migraines started. A CAT scan at Warren Memorial Hospital confirmed they’re only migraines.

Jozie has become good at predicting when they’re coming on, telling her mom if lights hurt her eyes or noises bother her. If she catches a headache soon enough, she’s OK with some Tylenol and a nap, and according to Palmer the migraines could disappear one day.

“They don’t like to call anything permanent until it’s been a year,” Palmer said.

HHT affects about 1 in 5,000 people, according to the website http:/www.hht.org, but it’s still highly under-diagnosed or misdiagnosed. It affects males and females of all racial and ethnic groups.

Characterized by abnormal blood vessels, the disease exhibits nosebleeds and red spots but also has a host of other symptoms that even 120 years after its first major study is still relatively unknown.

“I think they [Jozie’s doctors] said that it would be more common than cystic fibrosis if it was actually diagnosed correctly, and cystic fibrosis is diagnosed rather often,” Palmer said.

HHT is hereditary, and Jozie will have it forever, but her mother said except for severe left leg pain that developed after the surgery, Jozie hasn’t exhibited any symptoms yet. If not for her brother S.J., the Palmers might not even know about her disease now.

S.J. was born 10 weeks early after his mother experienced preeclampsia and brain swelling. He was born with moderate hearing loss, so Palmer and her husband had genetic testing done to find out if their son had a genetic condition that would cause progressive hearing problems.

The tests revealed her husband has the HHT gene, so they tested the kids, and Jozie tested positive.

Palmer credits her daughter’s pediatrician, Dr. Michael Amster in Warrenton, with helping make the early discovery.

“I’ve told him for a very long time that I felt like something was wrong with her,” Palmer said. “I didn’t know what it was, just like that motherly instinct … and he never once told me, ‘You’re wrong, she’s fine.’ He was beside me the entire time. Every test I ever wanted done, every anything, and then when it came back positive, he called me after the genetic specialist called.”

“He’s gone the extra mile,” she said, “he really, really has.”

Recently returning from a family trip to Walt Disney World with their good friends and cheerleaders Nicole Shaw and her young daughter Sydney — the Palmers’ part funded by the Make a Wish Foundation — the family has been settling in to another bout of tests to determine if Jozie needs more surgery.

“[HHT], it can affect anywhere from your head to your toes,” Palmer said.

An angiogram last week uncovered more telangiectasia — small, widened blood vessels — on Jozie’s skin that her mother said could develop into malformations.

“We don’t know exactly what’s going to happen with them,” she said.

Malformations found in Jozie’s head are 90 percent unlikely to return, but Palmer said those found in her lungs can return.

In coming weeks, doctors will test for more malformations throughout the rest of Jozie’s body. Palmer expects Jozie to have an ultrasound to check her stomach and digestive tract, a colonoscopy to check her colon and liver, a catheter to check her bladder and kidneys and an MRI to examine her legs. She said all future tests will have to be at Johns-Hopkins in Baltimore, the closest hospital able to treat Jozie for HHT.

Jozie will have HHT forever, but if tests come back clean, she should be able to manage the diagnosis with checkups every three to five years.

Thinking back on S.J.’s birth and her own health issues, Palmer remembered asking why — “Why are you doing this to me, what did I do to deserve this? Oh, my gosh. But it ended up saving her. Like, in the long run, you don’t question, you just kind of go with the flow and realize that there’s a bigger plan in store for everybody, and you know, just take it.”

“I will never ask why again.”

For information on HHT, visit http://www.hht.org.

Contact staff writer Josette Keelor at 540-465-5137, ext. 176, or jkeelor@nvdaily.com