The birth of a child is always cause for celebration, but for Tim and Liz Becher of NYA, that joy has been accompanied by heartache.
Their daughter, 2-month-old Ava, was diagnosed just weeks after her birth on July 12 with Type III Osteogenesis Imperfecta, otherwise known as Brittle Bone Disease. Since her birth, Ava has already suffered three leg fractures as well as a broken arm, and doctors believe she may have endured additional leg fractures while she was still in the womb.
While there is no cure for the condition, the family has begun treatment that can strengthen Ava’s bones to some extent, and eventually she can undergo surgeries to have rods implanted that will provide additional strength.
A benefit for Ava and the Becher family is planned from 5 to 10 p.m. on Nov. 17 at the NYA Pavilion, and organizers wanted to let the community know well in advance that there is an opportunity to help.
Tim and Liz received the first indication that something was wrong at the 20-week ultrasound during the pregnancy, when it appeared that Ava’s femur bones were angulated and shortened. The couple was told their daughter would likely have some form of skeletal dysplasia, and switched their care to Minnesota Prenatal, a specialty facility in Edina.
“They told us she would likely have a form of skeletal dysplasia. But there are 200-300 kinds of skeletal dysplasia and they didn’t know what kind until they could do an evaluation after she was born,” said Liz.
After the birth Ava was evaluated and a blood sample was taken for testing. The Bechers were informed that she may have Osteogenesis Imperfecta, but had to wait six weeks until the evaluation was complete to know for sure.
“So we waited and in the meantime sort of pretended like she had it, but we didn’t know for sure,” said Liz. “The first couple weeks we had her home things were great and we were hopeful she didn’t have it and it was maybe just a fluke, but when she was 2 weeks old my husband was holding her, had her head in his hands and was talking to her, and she kicked her legs into his chest. He heard a crack and she started crying really hard.”
Ava had broken her left leg in two places. The family drove down to Children’s Hospital for additional X-rays, but an already heart-wrenching situation only worsened.
“While we were there, an X-ray technician tried to straighten her right leg for a picture and we heard another snap. She broke her right femur on the X-ray table,” said Liz.
Coping and treatment
Any hopes that Ava did not have a serious condition evaporated with her injuries.
“We came home with two broken legs, trying to figure out how to care for her. We were just at a loss,” said Liz. “We weren’t expecting this. We felt so sorry for her, being in so much pain. All we could give her was a little baby Tylenol to take the edge off. But through it all she was a trooper, just so resilient.”
Two weeks later Ava’s test results came in — she had Type III, the most serious form of Osteogenesis Imperfecta.
“There’s no family history of it. It’s just a freak genetic mutation that happened, just a totally random thing,” said Liz.
Doctors informed the Bechers that there was a drug called pamidronate that could strengthen Ava’s bones by up to 30 percent and ease bone pain. Eager to help their daughter in any way possible, the Bechers went in for the first IV dose of the drug on Sept. 4. While there, however, Ava’s arm was broken while medical personnel tried to place the IV.
Doctors came up with a new plan to implant a line for treatment that will prevent future IV sticks, and Ava will receive treatments every two months.
“The way the doctors explained it, the way your bones form is like rebar intertwining. Then there’s concrete over it and that’s the makeup of your bone. But where Ava should have rebar, it’s just toothpicks,” said Liz. “This drug helps put more concrete over her bones, but she’ll still have the brittle structure within.”
Ava’s fragile condition has led to significant changes for the Becher family. Liz cannot return to work at YA Corp. because Ava is unable to go to daycare. Simple day-to-day items like changing diapers, getting Ava dressed, bathing her or putting her into a car seat are difficult to complete without injury, and Ava is carried on pads in order to cushion her movements.
“We have a new normal in our house. Our number one goal is to just make it through the day without anything breaking,” said Liz. “It’s been very overwhelming, but through it all she’s still been this happy, beautiful little girl.”
Ava’s big brother Emmit, a robust soon-to-be 3-year-old, has also had to adjust.
“He adores her and wants to do things like he could do with a normal baby, but I feel like we’re hard on him telling him not to touch her, don’t do this and don’t do that. But he’s adapting,” said Liz, noting that Ava has been Emmit’s opposite in terms of strength. “He’s this big strong boy. If someone had told me after having him that my next baby would be as fragile as a china doll, I would have thought they were crazy.”
While Ava’s first months have been difficult, and a lifetime of medical visits and procedures likely await, the Bechers are grateful for the support already generated by the community.
“It was extremely hard, especially getting the news and dealing with her broken legs at 2 weeks old. It was absolutely devastating. But what keeps us strong are our family and friends, the community. Everybody has been so amazing,” said Liz. “People have brought meals over and made donations. The outpouring of support has been overwhelming, but in a good way. My coworkers have been amazing, my friends, the church, everybody. Even complete strangers.
“Thank you to everyone who has offered prayers, support, food, donations, just for everything. I don’t even know how we could ever repay everything that people have done for us besides to pay it forward. It gets me a little choked up because people have just been so nice.”
• Organizers for the Becher benefit are hoping to have a silent auction and possibly two separate raffles, and plan to contact area businesses and organizations in upcoming weeks to make that a possibility. Anyone interested in helping can contact Ava’s grandfather, Butch Potter, at (612) 282-3351 or [email protected]
There is also a benefit account set up at KleinBank for donations.