OBJECTIVE
Neurotrophic keratopathy (NK) is a rare disease characterized by the loss of corneal innervation and increased vulnerability to injury. The diagnosis and treatment of NK can be challenging for pediatric patients and their caregivers. This study explores the experiences of caregivers navigating the diagnostic and treatment journey of pediatric patients with neurotrophic keratopathy.
DESIGN
This study is a qualitative study using semi-structured interviews.
SUBJECTS
Ten caregivers of pediatric patients with NK who had undergone corneal neurotization (CN) surgery.
METHODS
Caregivers were interviewed about their experiences related to the diagnostic process, treatment challenges, lifestyle changes, and the impact of CN surgery. Interviews were recorded, transcribed, and analyzed using an inductive-deductive approach to identify recurring themes.
MAIN OUTCOMES
Caregiver experiences and perceptions of diagnostic delays, information-seeking behaviors, lifestyle changes, and the effects of CN surgery on corneal health and quality of life.
RESULTS
Five key themes emerged from the analysis: (1) Delays in diagnosis due to insufficient specialist knowledge; (2) Caregivers’ proactive efforts in seeking information; (3) Substantial lifestyle changes required by NK; (4) The impact of CN surgery on corneal health and quality of life; and (5) Variability in healthcare experiences, highlighting the need for effective communication. Caregivers expressed frustration with diagnostic delays and highlighted their reliance on external support networks.
CONCLUSIONS
This study illustrates the need for enhanced awareness among clinicians about NK and the benefits of narrative medicine in fostering caregiver-provider relationships. The challenges reported by families navigating NK inform strategies that may improve diagnosis and treatment of NK.
BACKGROUND
N eurotrophic keratopathy (NK) is a rare corneal disease characterized by +the gradual or immediate loss of competent innervation of the cornea, resulting in reduced or absent corneal sensation. NK can be caused by any damage to the trigeminal nerve that impairs the proper innervation of the cornea by its ophthalmic branch. Sensation in the eye is crucial for maintaining corneal health, as it triggers protective reflexes such as blinking and tearing. In patients with NK, the cornea becomes vulnerable to damage from minor trauma or environmental factors, leading to persistent epithelial defects, corneal ulceration, and potential blindness. Initial NK treatments, such as artificial or serum tears, address symptoms temporarily, but not the underlying loss of innervation. Recently, corneal neurotization (CN) has emerged as a promising treatment that targets the root cause of NK by surgically connecting healthy nerves to the cornea, thereby improving corneal health and offering a long-term improvement in the amount of corneal innervation.
The journey to diagnosing rare diseases in children can be complex and emotionally challenging for caregivers. The journey is often marked with caregiver stress, delayed diagnosis, and lack of support. Caregivers face challenges such as feeling socially isolated, having to become experts in their child’s care, and dealing with a lack of knowledge about the disease among physicians. In NK, these challenges can be exacerbated because early symptoms can be subtle and overlooked and managing symptoms with topical medications can be demanding.
This study seeks to describe the lived experiences of caregivers as they navigate the journey from diagnosing NK through treatment for their children. These insights can help identify gaps in diagnostic pathways, enhance physician awareness, and inform the development of support resources for families affected by NK. To our knowledge there are no reports summarizing the diagnostic and management challenges faced by caregivers of pediatric patients with NK.
METHODS
STUDY DESIGN
In this qualitative study, we conducted semi-structured interviews with caregivers of NK patients to characterize their experiences with their children’s diagnosis and treatment of NK. The study was approved by Indiana University’s Institutional Review Board (IRB#: 19425). The interview guide was developed by first reviewing the literature on caregiver experiences and barriers to care in rare diseases. Questions covered diagnosis of NK, barriers to care, how NK impacted daily life, and experience surrounding CN surgery. The research team then individually reviewed the questions to ensure relevance and readability. The interview guide was reviewed by an ophthalmologist who cares for NK patients in coordination with a Qualitative Outcomes researcher.
PARTICIPANTS AND DATA COLLECTION
Eligible participants were parents/caregivers of a child with an NK diagnosis who had CN surgery at Riley Hospital for Children. Participants filled out an online demographic survey on education level, employment status, their child’s age of diagnosis, siblings, and insurance status. Individual virtual interviews were conducted over Microsoft Teams. The same interview guide was used for all participants. The interviews lasted 30 to 45 minutes and were audio and video recorded, and transcribed verbatim. Field notes and a post interview guide were also recorded during and after the interviews. Interviews were conducted until theme saturation was reached at ten interviews.
DATA ANALYSIS
An inductive-deductive approach was used to identify themes from the transcripts. Predefined codes were identified in a deductive step, including access to care, lifestyle changes, financial impact, and CN surgery outcomes. In the subsequent inductive step, additional codes were identified and refined into themes through reviewing the transcripts. Three members of the research team (Shadia Tannir, Chilando Mulenga, and Khoa Tran) each independently coded all transcripts. Any disagreements were discussed until a consensus was met. Nvivo (QSR International, Burlington, MA), a qualitative data analysis program, was used to code the transcripts and facilitate the formation of overarching themes from both predefined and newly identified codes.
RESULTS
PARTICIPANT CHARACTERISTICS
We interviewed ten caregivers, all of whom were women. The caregivers’ median age was 38 years old (range: 30-55), 8/10 (80%) were non-Hispanic Caucasian, and 2/10 (20%) were Hispanic ( Tables 1 and 2 ) . The caregivers reported the median age of NK diagnosis for their children was 1 year old (range: 0 to 4 years). All children presented with an underlying condition, including pontine tegmental cap dysplasia (PTCD) (5/10, 50%), Dandy-Walker syndrome (2/10, 20%), d -Wiedemann syndrome (1/10, 10%), facial paralysis (1/10, 10%), and a brain tumor (1/10, 10%). All children had undergone corneal neurotization (CN) and caregivers stated CN surgery was performed between six to ten months after NK diagnosis. Prior to CN surgery, all children were treated with artificial tears or serum eye drops with nerve growth factor (10/10, 100%). Other treatments, such as amniotic membrane transplant (1/10, 10%), conjunctival flap replacement (1/10, 10%), and tarsorrhaphy (5/10, 50%) were completed before CN surgery.
| NK Patient Characteristics | No. (%) of Patients (N = 10) |
|---|---|
| Sex | |
| Female | 6/10 (60%) |
| Male | 4/10 (40%) |
| Age of NK Diagnosis in Years | |
| Median (Range) | 1.1 (0-9) |
| Ethnicity | |
| Non-Hispanic Caucasian | 8 (80%) |
| Hispanic Latino | 2 (20 %) |
| NK Etiology | |
| Congenital | 9 (90%) |
| Brain Tumor | 1 (10%) |
| Pre-CN Treatment | |
| Artificial tears/Serum Eye Drops | 10/10 (100%) |
| Amniotic Membrane Transplant | 1/10 (10%) |
| Conjunctival Flap Replacement | 1/10 (10%) |
| Tarsorrhaphy | 5/10 (50%) |
| Months to Undergoing CN Surgery | |
| Median (Range) | 8 (6-10) |
| NK Caregiver Characteristics | No. (%) of Caregivers (N = 10) |
|---|---|
| Sex | |
| Female | 10/10 (100%) |
| Male | 0/10 (0%) |
| Age | |
| Median (Range) | 38 (30-55) |
| Ethnicity | |
| Non-Hispanic Caucasian | 8 (80%) |
| Hispanic Latino | 2 (20 %) |
| Education | |
| Bachelors Degree | 2 (20%) |
| Doctoral Degree | 1 (10%) |
| High school/GED | 1 (10%) |
| Some Highschool | 1 (10%) |
| Masters Degree | 2 (20%) |
| Some College | 3 (30%) |
| Employment | |
| Full-Time | 3 (30%) |
| Part-Time | 2 (20%) |
| Unemployed | 5 (50%) |
| Insurance | |
| Missing | 1 (10%) |
| Commercial | 3 (30%) |
| Medicaid | 6 (60%) |
OVERVIEW OF FINDINGS
Five main themes were identified from the data; (1) Barriers create delay in diagnosis; (2) Caregivers proactive approach to obtain information about NK; (3) Lifestyle changes; (4) Corneal neurotization surgery positively impacts quality of life and eye health; and (5) Narrative medicine leads to a better healthcare experience ( Table 3 ).
| Theme | Caregiver Quotes |
|---|---|
| Delay in Diagnosis | “I think it was more like a lack of knowledge of the condition … and it ( NK) was getting worse and worse to its eyes were like getting redder and redder and like, more inflamed and like, the actual ulceration spot was like he was in pain.” ∼Participant 1 “Where no one else will think outside the box if it doesn’t fit in this tiny little thing, and it’s not their area of expertise, they’re refusing to look at it.” ∼Participant 5 “I think, misunderstanding around it. And there’s been a lot of inappropriate treatment around it.” ∼ Participant 3 “I just really felt like we didn’t have a good understanding and at that point that was really terrifying for us because not having a good understanding of what’s to come can like lead you down the rabbit hole of thoughts of like your child is not going to live.” ∼ Participant 4 |
| Caregiver Proactive Approach | “.. the most helpful thing has actually been other parents of kids with the same diagnosis. That’s where we’ve actually learned the most valuable knowledge.” ∼ Participant 7 “My experience has been dramatically impacted by my desire to understand my child’s condition at all costs… that information was not readily available by any means…I really had to fight for that knowledge and it was a multiyear multi step process.”∼ Participant 4 “We had a hard time getting ahold of the right scheduling people I ended up having to go through tons of medical records and phone calls. And I spoke with Doctor Borschel over it and it got taken care of.” ∼ Participant 2 |
| Lifestyle Changes | “He doesn’t formed friendships in the same way that maybe other little 2-year-olds have formed weird 2-year-old friendships” ∼ Participant 6 “When … was first was born and he was diagnosed with everything I worked for the post office, and I could just say they don’t really care about your personal life. So put my two weeks in over there.” ∼ Participant 3 “I remember one time specifically, we had gone to the aquarium for a day out and I had forgotten her eye drops and the outing turned into this like huge, stressful situation.” ∼ Participant 5 “I haven’t been able to go back to work pretty much at all since her birth. She’s very medically complex. Financially, having a medically complex child takes its toll on your bank account.” ∼ Participant 7 |
| CN Surgery | “The surgery is doing its job. It’s protecting her corneas. It is allowing her to, you know, have a fuller life as a little kid.” ∼Participant 8 “So the very first thing she got back is I kissed her goodnight… And she says I can feel you and she could feel the warmth on my on her cheek of my lips.” ∼ Participant 4 “She started to have weird electric shocks throughout her face and she actually did regain some of her old sensation back [after CN surgery].” ∼ Participant 2 “There are certain things that seem benign but you just don’t feel comfortable doing, like going to the beach or a swimming pool with a child that has NK. Prior to surgery, we were a lot more sheltered with her. And now, after surgery, we feel a lot more comfortable doing some of those things.” ∼ Participant 3 |
| Patient Centered Care | “They are humble and wanting to learn and have the patient’s best interest in mind, and he’s willing to say I don’t get it.” ∼ Participant 5 “And he said, always listen to the parents because they’re with this kid all the time and they will see things, little things that you won’t even understand, that actually can give you clues as to what’s wrong.” ∼ Participant 7 “To me like a provider that’s willing to say, I don’t know this answer, but I’m willing to do research and or try something is much more indicative than a provider that says, well, I don’t know like just put some eye drops in it and hope for the best.” ∼ Participant 8 “They[physicians] have learned and done research themselves, I really put my trust into marks doctors down there… and have a great relationship with [the patients] doctors.” ∼ Participant 6 |
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