Published onHI Hope
Help to cope with a dual diagnosis
Parents are usually blindsided when they find out that their child has congenital hyperinsulinism (HI), a rare genetic disorder that depresses blood sugar to dangerously low levels. While they are learning about the medical side of HI — treatment and ongoing care — parents also need to deal with the emotional aspects of having a child with what may be a life-long condition.
In that taut atmosphere, learning that their baby also has a second genetic condition can be overwhelming.
A handful of other genetic conditions, while rare, are associated with HI. Kabuki syndrome, Beckwith-Wiedemann syndrome (BWS) and Turner syndrome are the most common. Doctors at CHOP’s Congenital Hyperinsulinism Center are keenly aware of the potential for dual diagnoses and are on the lookout for them, so parents may find out their child has a second condition while they’re still in the hospital for HI. Families whose children are cared for at CHOP can turn to center psychologist Leela Morrow, PsyD, for help.
Stress upon stress
“These additional conditions can be diagnosed very early in life,” Morrow says, “when parents — especially first-time parents — are already stressed when they find out their child has HI. Then someone tells you, ‘Oh, your child also has Kabuki syndrome.’ Being inundated with all this news, parents are terrified.”
Kabuki and Beckwith-Wiedemann syndromes, in particular, are noted for having a variety of additional birth anomalies and medical problems. Morrow recalls one parent, after learning of all the potential conditions her child may have, said to her, “What’s the next bad news I’m going to get about my child?’
Parents of newborns who are hospitalized can feel very isolated, Morrow acknowledges. “I encourage them to stay focused on their baby’s current condition, using mindfulness and grounding techniques,” she says. “I’ll say, ‘Look at your baby. He’s smiling. She’s cuddling with you. All those developmental things you so long for as a parent, your child is able to do some of those things.’
“We work on reflecting on the positives. For example, while you are in the hospital, you get to be here with the child, every step of the way.” If the family has other children who are being cared for by relatives or friends, the inpatient period may be a rare opportunity for the parent and child to be alone, allowing for bonding and attachment.
Dealing with unknowns
There are a lot of unknowns, especially around how severe a child’s medical conditions will be or whether they’ll even develop some of the potential disabilities. To help parents avoid falling into a negative well of “what ifs,” Morrow draws them back to the present: Today’s tests. Today’s blood sugar levels. Today’s examinations by a specialist, and identifying the positive aspects of the day.
“A lot of what I do is help them balance out their emotions and stay in a more neutral stance rather than to always be anxious and reactive,” she says. “I also empathize with them. This is difficult; there’s no way to deny that. I try to give them the tools to stay present, stay balanced.”
There are times, when a second diagnosis — like Turner syndrome — doesn’t come until the child is older. Parents, who have gotten into a comfortable routine caring for their child’s HI, may feel blindsided by another diagnosis.
“To help parents cope with an additional challenge, I counsel them to reach out to their supports and get back to their strengths,” Morrow says. “I remind them: ‘You’ve done this before. You got through it. Now you have another medical condition to manage, and you can get through that as well.’”
She also validates that the parents are the experts in their child. The doctors are the experts in the medical condition, but no one knows their child better than they do. “That resonates with parents because it assures them that they have some agency,” Morrow says.
With the prevalence of prenatal testing and advancement of genetics, some families learn during the pregnancy that their child will have a genetic diagnosis. That allows them to prepare, both medically (by ensuring doctors at the birth hospital are ready to handle any emergent issues, for example) and emotionally. “It gives the parents some time to cope and process before the baby comes,” Morrow says.
Dealing with guilt
No matter when in the baby’s life a genetic diagnosis comes, one common concern parents have is that they did something to cause the problem.
“We often have to deal with guilt and shame that parents face: What did I do to cause this in my child?’ Morrow says. Guilt is an appropriate reaction to have and, as the parent is experiencing different emotions, Morrow helps them through the negative emotions and then guides them to a place of acceptance. “This is what your child has, and here is how you will be the best at caring for your child,” she says.
Another common issue parents face is neglecting their own healthy habits — eating, sleeping, exercising — to put 100% of their energy into their child. Even while in the hospital, parents need to also take care of themselves, Morrow advises.
“Parents need to be well to help their children,” Morrow says. She will strategize with them about ways to take a break and identifying who they can talk with to work through their emotions. One mother was staying up all night reading medical journal articles on her child’s condition and therefore not getting enough sleep. Together, they came to a compromise: The mother would read one article each evening. “It was a matter of setting healthy limits, not having her stop altogether,” Morrow says.
Parents of HI patients sometimes feel like they should fast when their child is undergoing a fast. But that could put them in an unhealthy state unnecessarily. “I tell them it’s OK to step out in the hall and have a bite to eat so that they can keep their energy up,” Morrow says. “The only way you’re going to be able to survive the long haul of this medical condition is if you are taking care of your needs first.”
Children with Kabuki and Beckwith-Wiedemann syndromes may also have some level of intellectual disability. “So, on top of managing the medical conditions, the family has a child who may not understand everything that the parent is saying,” Morrow says. “That adds another challenge.”
Recognizing strengths, building resilience
Those families often will have multiple appointments with several specialists to monitor or treat comorbidities, adding stress. Parents of children with BWS worry they’ll have to deal with a cancerous tumor as 5% to 10% of patients develop cancer, most before they’re 10 years old.
That’s when Morrow returns to staying in the moment. “Instead of jumping ahead 10 steps, we return to mindfulness and staying present focused,” she says. “We use strength-based empowerment models of therapy to help the parent stay positive and build resilience.”
Children’s Hospital of Philadelphia recognizes that helping children and families cope with medical conditions and treatments is part of the overall care families deserve to receive. That’s why 89 psychologists, like Morrow, and counseling trained social workers are embedded in divisions and centers across CHOP to support patients and their families.
“When faced with adversities, humans have an amazing capacity to adapt and adjust,” Morrow says. “Families whose children have dual diagnoses may face more adversity. My role is to provide the tools and skills they can apply to help them cope with it.”