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A personal account of a child born with the duchenne muscular dystrophy

The publisher's final edited version of this article is available at J Pediatr Health Care Abstract Purpose Duchenne muscular dystrophy DMD is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. Thematic analysis identified themes and provided answers to the research questions being addressed. Results Four themes emerged: Conclusion Despite marked medical progress over the past several decades, substantial barriers to arriving at the diagnosis of DMD and the provision of care guidance remain.

Neuromuscular disorder, rare disease, delayed diagnosis, parent-report, clinical decision-making Introduction Duchenne muscular dystrophy DMD is the most common X-linked recessive fatal muscle disease in children that affects 1 in 3,500—6,000 live born males worldwide Theadom et al, 2014 ; Romitti et al, 2015. DMD is suspected when young boys display atypical gait patterns and difficulty with physical activities, such as running and climbing stairs.

The route to confirming a diagnosis of DMD is dependent on the availability of rapid and reliable testing which must be interpreted alongside the clinical presentation of symptoms of DMD Bushby et al 2009. We were specifically interested in qualitatively studying: If their child was currently participating in the DMD natural history study, clinicians associated with the original studies contacted parents and provided information and an IRB approved flyer describing our study.

  • Muscular dystrophies are a group of inherited diseases that cause muscle weakness over time;
  • The first author had limited connection with parents during the two natural history studies but had worked with the clinicians associated with the studies; the second author had no connection or knowledge of the participants or the clinicians involved;
  • Circumstances reducing case ascertainment include frequent delays in diagnosis, 4 problems locating the records of males born more than 20 years ago records were archived or lost , and out of state medical care;
  • Not even from the pediatrician who I put on a pedestal cause she is awesome.

Fifteen parents from various geographic areas in the US responded to the flyer and contacted the PI of this study. Written, informed consent was obtained from all 15 parents. The first author had limited connection with parents during the two natural history studies but had worked with the clinicians associated with the studies; the second author had no connection or knowledge of the participants or the clinicians involved. All parents fully participated in semi-structured telephone interviews from their homes.

The first author conducted all interviews. The interview guide was initially developed by the first author, and received review and discussion from qualitative experts prior to initiation into the study. Following a thorough review of the written transcriptions for data quality assurance, audio recordings were deleted to protect participant confidentiality.

Table 2 Semi-structured interviews: I would like to talk about your experience of receiving a DMD diagnosis for your child, specifically your experience with your healthcare provider. Who first gave you the diagnosis of DMD and what was that experience like?

Guillaume Benjamin Amand Duchenne de Boulogne

Not a doctor who was very passionate about helping with this extremely serious disease. It was just something we had to endure. But I think that where I was when that phone call came just made it really difficult. I had no time to swallow all that.

  • Known deaths that occurred through December 31, 2007, were identified from clinic reports;
  • Denominators used for rate calculations were the male resident population from the U.

My son was with me and I had to be happy and smile and play with [name]; there was nowhere to run. What were some of the strengths and weakness of your healthcare provider during that experience? Well, that obviously is not really very acceptable. What if anything did you really cherish or appreciate about your healthcare provider and what if anything were you not pleased about?

Well 2 weeks went by, then 3, 4, 5 and 6 weeks. I was getting really annoyed and angry. It was like put is out of our misery here, we need to know 100 percent. How did this experience with the healthcare provider affect you and your family and your view of the diagnosis? What resources did your healthcare provider give you? What did you do after you received the information from your healthcare provider? Initially the interviews were methodically read multiple times to allow for increased familiarity with the datasets Shenton, 2004.

The datasets were then hand coded line-by-line to identify important patterned responses relevant to the research questions. Data relevant to each theme was reviewed and discussed, then refined and rephrased to more clearly describe the narrative of our parents. Data analysis began following 10 parent interviews whereby themes developed. An additional five interviews were conducted to ensure that our analysis had reached the point of no new themes.

Qualitative findings were then presented to experts in qualitative data analysis for review and discussion of the themes. Results Parents of boys with DMD described their pre- and post-diagnostic experiences regarding how they presented their earliest concerns to their healthcare providers, the diagnosis, and the follow-up that occurred. That is pretty much the diagnosis we got — low muscle tone.

We knew nothing except that his legs looked really strong…but it was odd because he was so weak in the same token. So we started doing computer research…and the computer kept indicating this deadly form of muscular dystrophy. The pediatrician told us we were just worrying. So he had actually seen 2 neurologists before we finally saw the third one who made the diagnosis.

The experience with the healthcare providers was just terrifying and horrible. We felt we knew more than the doctors. In fact, the physical therapist recommended that my son get a CPK blood test. So I made the appointment with the pediatrician, he had no idea what I was talking about.

A personal account of a child born with the duchenne muscular dystrophy parents discussed their frustration that their sons were put through expensive and unnecessary testing.

Conor

Our parent interviews provided numerous accounts of limited knowledge and understanding of the current diagnostic strategies for this rare disease. Careless Delivery Careless Delivery reveals concerns regarding how the diagnosis was delivered to parents.

  1. The results of this study are disconcerting given the literature over the past three decades. It was just something we had to endure.
  2. In Paris Duchenne met with a rather cool reception, being ridiculed for his provincial accent and his course manners. Importantly, parents who discovered strong, collaborative health care teams felt empowered by more informative clinical decision-making and established plans of care.
  3. Firth 1983 qualitatively reported that parents described early motor delays in their sons and sought advice from their pediatricians, but were often told they were unnecessarily concerned and sent home with a reassurance that the symptoms were within the normal range of development. Muscular dystrophies are a group of inherited diseases that cause muscle weakness over time.
  4. Trained abstractors screen medical records to determine if the patient might have DBMD. Of the remaining four, one resulted from poisoning, one was attributed to an unintentional injury, and two resulted from unknown causes.

Nine parents told of the abruptness in which they were notified, and the lack of empathy received following the diagnosis. So I was working with a client and the phone rang and it was a nurse from [the clinic] who told me that the test came back positive without even warning me.

I would think that a doctor would actually take the time to call and maybe throw a little bit of psychology into it, and understand that this is a parent, and you are telling them that their son has a terminal illness, so I think that the telephone call was inappropriate. Parents discussed the inability to talk further with their doctor following the diagnosis. We were lost like there was nobody to contact besides the pediatrician who called to check on us and said, well, call me on Monday and we can talk again.

Prevalence of Duchenne/Becker Muscular Dystrophy Among Males Aged 5-24 Years—Four States, 2007

So that was distressful. Because they never prepped me at all or prefaced it with anything. This recurring theme belies the importance of supporting families and ensuring that adequate information is provided and collaborative relationships established among all members of the health care team. Lack of Guidance Lack of Guidance sheds light on the process and follow-up that occurred after the diagnosis of DMD was revealed.

Fourteen of our parents stated that they received little guidance following the diagnosis and limited resources to assist in managing the impact of the disease, indicating a clear pattern from the interviews.

Parents report being told there is little they can do for their sons. Not even from the pediatrician who I put on a pedestal cause she is awesome. That was more on my part from reading online and then being able to find the Early Intervention program. When you go for a visit it is a whole different feeling.

  • We were specifically interested in qualitatively studying;
  • He also performed electro stimulation of rectum and the bladder in incontinence and of uterus in amenorrhoea;
  • He died of a haemorrhagic bleeding in , following several years of illness;
  • If their child was currently participating in the DMD natural history study, clinicians associated with the original studies contacted parents and provided information and an IRB approved flyer describing our study;
  • As a consequence of this his patients the following years avoided his previously blossoming practice;
  • Duchenne gave a detailed account of 13 affected children in in a series of articles using the designation "paralysie musculaire pseudohypertrophique".

These are the best friends that I never wanted to have. Importantly, parents who discovered strong, collaborative health care teams felt empowered by more informative clinical decision-making and established plans of care. Discussion Through personal interviews with parents of children with DMD, our data revealed that many pediatric healthcare providers failed to incorporate parental concerns into the diagnostic process, had limited knowledge to guide the medical work up and, after delivering the diagnostic news, provided little guidance to assist families in dealing with the impact of this devastating disease.

In fact, a few of our parents recognized the paucity of information on DMD. Despite the limited exposure to the disease itself, healthcare providers do have specific tools in their armamentarium to help guide the diagnostic process.

The pediatric medical home has a responsibility to identify and address developmental concerns in children and initiate treatment planning and management CCP, 2006. The results of this study are disconcerting given the literature over the past three decades.

Firth 1983 qualitatively reported that parents described early motor delays in their sons and sought advice from their pediatricians, but were often told they were unnecessarily concerned and sent home with a reassurance that the symptoms were within the normal range of development. In a personal account of a child born with the duchenne muscular dystrophy, in more recent studies, parents continue to notice symptoms more than 2 years before a definitive diagnosis is provided Holtzer et al, 2011 ; Parsons et al, 2004 ; van Ruiten et al, 2014.

Similarly, our participant group reported a large range in time since their son had been diagnosed 3—10 yearsyet the communication breakdown was prevalent and diagnostic delay changed little over this time period. In line with each of these past studies, parents report going to numerous healthcare providers for the diagnosis and care their child needs, and results reiterate that CPK levels are sensitive biochemical markers for early detection of DMD and can play a pivotal role in establishing a DMD diagnosis.

Importantly, the difficulties with a timely diagnosis appear to be systemic and not just related to the primary pediatrician. Our families discussed other specialists, such as developmental pediatricians and neurologists, who also failed to promptly make a diagnosis — a diagnosis that in retrospect seemed obvious to our families. Clearly, these families were confused and angered by the perceived failure of the diagnostic process. Yet the reality is that for every one boy with DMD, a pediatrician may have encountered hundreds of children with other developmental disabilities.

Despite established DMD standards of care and clinical guidelines, there remains a continued need for education of health professionals. Limitations This study has a few limitations.

Parental Reflections on the Diagnostic Process for Duchenne Muscular Dystrophy: A Qualitative Study

First, although our study participants lived in eight different states, most of our information came from families living in the southeast and northeast. Second, our conclusions are based solely on parental interviews, hence, we are only presenting one view of the diagnostic experience — the view of a parent who is struggling with the reality that their child has a lethal disease. Our study illustrates that despite marked medical progress over the past several decades, substantial barriers to arriving at the diagnosis of DMD and the provision of care guidance remain.