The Morning Journal (Lorain, OH)
Baby’s first Christmas
Unexpected crisis leads to joy for Avon Lake family during this year’s holiday
An Avon Lake family is savoring the delight of their 10-week-old baby’s first Christmas after overcoming serious complications during pregnancy.
Dan and Annie Timby learned that Annie had a rare hereditary condition through symptoms she considered normal for pregnancy.
“When I was pregnant with Emmett in my first trimester I started to get nose bleeds,” said Annie Timby, a 30-year-old director of client services for the Hileman Group, a digital advertising agency in Cleveland. “I didn’t think much about it because I read up on it and found it was common in pregnancy. But when I went to my doctor she said, ‘Well, on your family history you mentioned your mom had this condition.’ She referred me to a genetic counselor at the Cleveland Clinic.”
The condition, Hereditary Hemorrhagic Telangiectasia, caused serious complications during the pregnancy, she said.
Affecting one in 5,000 people, HHT can cause abnormalities in blood vessels called artero veinous malformations, or AVMs, which lack capillaries usually present between arteries and veins, said Dr. Joseph Parambil, director of the Cleveland Clinic HHT Center, 9500 Euclid Ave. in Cleveland.
The AVMs tend to be fragile, so they can rupture and bleed, Parambil said. Often misdiagnosed because of a variety of symptoms, 500,000 diagnosed cases of HHT exist worldwide.
“I’ve had it my whole life and I didn’t know it,” Timby said. “It really, for me, was the nose bleeds.”
An abnormal gene causes HHT. Other signs of the condition include family history, because children of people with HHT have a 50-50 chance of inheriting it from a parent; and small purple or red lesions on the face, mouth or nasal passages, Parambil said.
He recognized a need for an HHT center after treating misand under-diagnosed cases.
“We noticed a gap in the availability of treatment centers in the United States, specifically in the Midwest, for those affected by HHT,” Parambil said. “Patients were forced to travel great lengths to receive the highly specialized care that the HHT Foundation recommends for proper care.”
Professionals were already on staff at The Cleveland Clinic with experience caring for patients with the condition, Parambil said. In 2013 Cleveland Clinic was named the 15th HHT Center of Excellence in the United States, he said.
The Timby family is grateful for the care Annie and the baby received.
“A couple weeks after the appointment, I started having chest pains,” she said. “I waited a few days; read up on it. I learned during pregnancy the heart is pumping blood faster. I thought, ‘It will pass.’ At this point I was 4½ to five months pregnant. I waited a couple of days and thought, ‘Okay, let’s get this checked, too.’”
Timby’s obstetrician, Joan Jesse of Lakewood, sent her to the emergency room for blood work and other tests. They wanted to perform a CT scan.
“They weren’t going to be able because they have to use contrast, and it could potentially harm the baby,” Timby said. “I was nervous. My husband and I made the decision to have the CT scan. They said I was far enough along in my pregnancy that the baby would be okay. They found I have those AVMs in both lungs.
“They referred me to a pulmonologist,” she said. “The first thing the next morning I called Dr. Joseph Parambil. He looked at my CT scan. He said I needed to comeinto the hospital because we needed to do a procedure immediately.”
Timby checked in at The Cleveland Clinic for overnight observation. Her case switched to Dr. Sadi Khoury, an obstetrician who specializes in highrisk pregnancies.
“I felt like a celebrity at the hospital,” Timby said, “because everyone was coming in and trying to understand this condition. I didn’t knowwhat this was going to mean. But everyone on the staff was incredible. They monitored me the whole way.”
In the mid-afternoon of the following day, Dr. Gordon McLennan, an interventional radiologist, performed a twohour coiling procedure, inserting a small catheter and directing it to the AVM. Coils placed around the AVM block blood flow to shrink it, said Andrea Pacetti, a spokeswoman for Cleveland Clinic.
“It almost looks like those Office Max rubber band balls,” Timby said. “They go around the AVM so the AVM can’t burst. I was awake the whole time. They monitored everything. Every time I made a noise there were two nurses asking if I was okay.”
Hospital staff communicated with Dan Timby, 30, who works in customer service operations at Parker-Hannifin, an aerospace company specializing in fuel pumps in Elyria.
“He was sitting in the waiting room with my mom. They were calling my husband every 10 minutes,” Annie said. “At such a scary time when we didn’t know what was going on, everyone was really incredible.
“It’s normally an outpatient procedure, but because of the baby, they monitored him the whole time,” she said. “The doctor was saying, ‘This baby is going to be so easy. He’s just hanging out. Nothing fazes him.’
“It was scary,” Annie said. “But the procedure wasn’t that bad because we had everyone around us telling us everything was going to be okay,”
Because the doctors could not completely reach one of the AVMs, a second procedure is scheduled for late January, she said.
The condition is monitored every three to five years. A brain MRI also is needed to ensure no AVMs are in the brain.
“They can form at any point,” Timby said. “If I were to become pregnant again, we would want to be sure there isn’t anything.”
Emmett Walter arrived at 4:42 a.m. Oct. 4, healthy and good-natured.
“He only cries when he is hungry. He smiles all the time now. He’s made it really easy to step into motherhood,” she said. “He’s been so wonderful and such a joy for us.”
Because of Timby’s 50-50 chance of giving the dominant gene to Emmett, he was tested at the age one month.
“The tests came back negative,” Timby said. “That was very comforting and great news.”
As they decorated and lit a tree for Emmett’s first Christmas, he responded with joy worthy of the season.
“He loves it,” Annie said. “When he saw the thousands of lights, he didn’t know what to do with himself. He was so excited.”