New moms and dads often find themselves wishing their babies arrived with instruction books. Spoiler alert: They don’t.
Instead, parents quickly realize that even everyday occurrences like spitting up, colic, and rashes can spur anxiety that something might be seriously wrong.
Learning their newborn has a chronic disease such as hemophilia, especially when neither parent did, can qualify as terrifying.
The discovery sometimes comes almost immediately, with an infant experiencing heavy bleeding when the umbilical cord detaches or after circumcision and doctors order tests that point to the disease.
Less severe cases may not be apparent until later, with a child developing bruises from being picked up or experiencing heavy nosebleeds, for example.
“People who have no previous history of dealing with this disorder often fear the worst, worrying that their child might bleed to death from a fall,” says Kelly Tickle, a pediatric nurse practitioner at the Hemophilia of Georgia Center for Bleeding and Clotting Disorders at Children’s Healthcare of Atlanta’s pediatric hemophilia treatment center (HTC).
Their questions range from the simple to the profound:
- Can my child still live a normal life?
- Will they be able to do all the things that other kids can do?
- Can they still grow up to be anything they want?
In initial consultations, hemophilia specialists work to help parents adjust, ensuring they get a basic education in the dynamics of the disease and what to expect long term.
Hemophilia today is more manageable than ever, thanks to advances in treatments, and people with mild and moderate forms of the disease have life expectancies in the U.S. close to those of the general population.
Once a newborn is diagnosed, Tickle recommends that parents connect as quickly as possible with their closest HTC, which can offer specialized advice, referrals, and a multidisciplinary approach to disease management.
HTC staff typically start slowly with the initial visit, especially when the baby’s condition is unexpected. As many as a third of all infants with hemophilia are born to parents without the disease, Tickle explains.
“We start small when they come for their first visit, introducing them to the team, what the diagnosis is, and what it means for their child,” she says. “If there’s no family history, and the diagnosis has come out of the blue, it can be very scary for families. We try to lay the groundwork for providing education and calming the families’ fears.”
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Starting Prophylaxis Early
Much depends on the severity of the newborn’s hemophilia, which is determined by measuring clotting factor activity levels before any treatment. The average normal level is 100%, according to the U.S. Centers for Disease Control and Prevention.
Mild hemophilia is diagnosed with factor levels between 5% and 40%, moderate cases have a clotting factor range of 1% to 5%, and severe cases have less than 1%.
“There are certain things that children with hemophilia won’t be able to do,” Tickle says, “but for the most part, they’re going to be able to lead a normal life.”
Starting prophylaxis, or the replacement of missing clotting factor, as early as possible can enable people with hemophilia to avoid uncontrolled bleeding events altogether — an ideal outcome, Tickle says.
“Our goal now is really to prevent bleeding,” she says. “In the past, prophylaxis was available only through IV infusion, which was not an easy thing to do, especially with smaller children. We typically started around the age of 1 or whenever the child had their first bleeding event. Now that there are other ways we can provide treatment, such as subcutaneous injection, we can start those treatments earlier.”
Treatment options are an early priority for discussions between families and hemophilia specialists since understanding the range of choices entails a steep learning curve.
Education and planning can begin much earlier with women who know that they’re carriers of hemophilia, Tickle adds.
“We work with them to make sure that their obstetricians are aware of the familial history,” she says. “Many HTCs provide kits for families to share with their obstetricians that contain all the information about what to look for at delivery, how to prevent bleeding, and risks to avoid.”
Working Backward
While hemophilia is far less common in women than men, some women do have the disease themselves and even those who are carriers may have lower clotting factor levels that will necessitate treatment around the time of delivery.
“There’s a lot of pre-planning and cooperation between different medical disciplines to help ensure a safe delivery for the mom and the baby,” Tickle says. “Then, when the baby is born, blood from the umbilical cord can be tested to determine whether the baby has hemophilia.”
In cases where the infant’s hemophilia diagnosis is unexpected, the process can be reversed, with the infant’s condition prompting testing and analyses of the parents and their families.
“When we have a patient without any known family history, we always work to make sure that there truly isn’t one,” Tickle says. “Sometimes, there may be a mild diagnosis that has run through families but they’re not aware that they have it and are passing it on. Testing the mom to find out if she’s a carrier is important because if she wants to have more children, they might have hemophilia, too.”