The diagnostic odyssey: Parents shed light on their experience

the diagnostic journey
Robert Salmon: Storm at sea (Wikimedia Commons)

Nikkola Carmichael, MS, CGC, is a parent and a genetic counselor in the adult genetics clinic at Brigham and Women’s Hospital. Her research was conducted as part of her master’s degree in genetic counseling in conjunction with colleagues at Boston Children’s Hospital.

When a parent or provider first becomes concerned about a child’s development, a diagnostic odyssey begins. It may be brief or can stretch for years as a child undergoes multiple procedures and medical appointments in the search for a diagnosis.

This is a challenging time for families. While learning to address their child’s health needs and fearing for the future, parents may have difficulty accessing support services due to the lack of a diagnosis. Against this backdrop of emotional turmoil, parents strive to support their child through medical procedures that can be painful or frightening.

We interviewed ten mothers of children with neuromuscular disorders about their diagnostic odyssey. The results highlight the distress that can be caused by even minor medical procedures and the benefits to the family of obtaining a diagnosis.

Managing child distress during medical procedures 

The ten children underwent multiple medical procedures, ranging from non-invasive (like ultrasound or EKG) to highly invasive (like surgery or lumbar puncture). While parents reported that the invasive procedures were more distressing, they also noted that health care providers offered their child support that wasn’t necessarily offered for “minor” tests. In the words of one mother:

When she went for surgery and she went for her biopsy, those things were just done wonderfully by the hospitals. She was distracted. We were prepared. But… for the blood work and the tests, that was pretty much up to me to prepare, right?

Even procedures as non-invasive as x-rays were distressing for some children:

The x-rays are actually really difficult, because he’s in a wheelchair, so you’ve got to move him into another seat, and you’ve got to get him to sit up….That’s hard for him to do, and he has to sit for a while. Those are hard, the chest x-rays.

The consequences of unmanaged distress

While some children showed their distress openly, some just became quiet, or the pitch of their voice changed. Managing distress, especially during frequent procedures such as blood tests, has significant implications for long-term health. Distress during a medical procedure can lead to anticipatory anxiety before the next one, and children who are already anxious have a heightened perception of pain. This can lead to a cycle of increasing anxiety and distress with each subsequent procedure, especially when pain control was inadequate for the first procedure. In the long term, children who have more negative experiences with medical procedures are more likely to grow up into adults who avoid health care.

stress cycle diagnostic procedures
Managing child distress during medical procedures can have lifelong health implications.

The benefit of a diagnosis

Raising a child with a disability places additional responsibilities on parents, and the lack of a diagnosis leaves families uncertain about their child’s future health. Parents’ concerns may be brushed aside by friends, school personnel or medical providers, leaving them feeling alone in their worries. One mother, upon receiving a diagnosis, recalled:

To hear those words…that was a scary moment…But in a sense, and this is going to sound really bad…it was so confirming to me. I knew something wasn’t right.

The validation of obtaining a diagnosis can also benefit the child. One child, who was struggling to keep up physically with the other children, was told by her school gym teacher that she should “get over it” and “rise to the occasion.” After being diagnosed, accommodations were made, and rather than being chastised for laziness, she was praised for her efforts.

Parents also valued having a prognosis, however grim, because it enabled them to plan for the future and prepare their child. One mother said that knowing that her son would one day require a wheelchair allowed for years of preparation that eventuality enabled him to make a smooth transition. Even when the diagnosis was of a life-limiting condition, it allowed parents to make care decisions in conjunction with the child:

She also knows that on some issues she has the ultimate power. For example… she made it abundantly clear that she had no plans, no desire, no interest in being on a trach[eostomy tube] or a vent[ilator] long-term.

Finally, once parents had a name for their child’s condition, they were able to connect with other families through local or online support groups.

Implications for parents and health care providers

For all children, but especially those with chronic medical conditions, addressing fear and pain during medical procedures is crucial:

  • When ordering a medical procedure, health care providers should try to identify children who would benefit from support. For example: “How does she usually do during blood tests?” or “Has he had x-rays before? How did it go?”
  • Parents should not be afraid to ask for help. If you think your child will be distressed, ask if the hospital has child life specialists or other resources to help you. Child life specialists can teach techniques such as relaxation and imagery to help children manage medical procedures. In other cases, pain can be managed pharmaceutically.

Clinicians can help families even if a diagnosis cannot yet be made:

  • While accepting that a diagnosis was not always possible, parents in our study appreciated medical providers who acknowledged their concerns, asked about how the situation was impacting the family and kept an open dialogue about next steps.
  • In the words of some researchers, offering parents a “reasonable, albeit uncertain ‘working diagnosis’” rather than no diagnosis is worth considering, since that could connect them to other families who share the experience.

Ed note: Many patients and families may receive no explanation for their symptoms despite a lengthy diagnostic odyssey. An international crowd-sourcing challenge is inviting scientific teams to find answers for five undiagnosed patients (application deadline June 11). Learn more about CLARITY Undiagnosed.