by Blyth Lord
As the bereaved parent of a daughter who lived
with a serious illness, I know families in similar
situations must make difficult decisions where the
outcomes are uncertain and costs and benefits of
interventions must be weighed against each other.
Shared decision-making, the subject of a recently
released AAP clinical report ( https://doi.org/10.1542/
peds.2017-0956), is at the core of pediatric care generally and pediatric palliative care specifically. Unfortunately, the ideal conditions usually are not in place
at the outset of a serious illness journey, leaving the
child and parents at significant disadvantage.
With few exceptions, parents will lack training
and orientation in disease and medicine. This deficit will be exacerbated by emotional, psychological,
spiritual and physical isolation. Family members
may wrestle with anxiety, fear, guilt and/or anticipatory grief — and these feelings may surface anywhere
and at any time.
A valuable referral resource for pediatric providers
is Courageous Parents Network (CPN). This web-
destination is devoted
to the emotional and
families face while car-
ing for children with serious chronic conditions and/
or life-threatening illness. CPN was designed by and
for parents, with oversight by a professional advisory
board including members of the AAP Section on
Hospice and Palliative Medicine. Over 450 video
interviews, podcasts, guides and blog posts profile
the diversity of family experience and perspectives,
and offer guidance from medical and allied health
professionals on questions families may ask from
the initial diagnosis to end-of-life and bereavement.
The content is organized by topic, in a nonprescriptive format, so family members can enter at any point
in their process and find help and insights depending
on their needs. Topics include coping with the diagnosis, working with the medical team, navigating
the hospital, caring for other children, tending the
partnership, the role of faith and religion, self-care,
decision-making, fear of regrets, anticipating and
transitioning to end-of-life, bereavement and parental
identity. Users also can join a private discussion forum
dedicated to their needs and interests.
Courageous Parents Network is agnostic about
medical interventions, presenting different decisions
families have made around a range of topics. On the
other hand, the network is specific and direct about
the value of pediatric palliative care as an option for
families and about the goal of shared decision-making.
Accordingly, a number of CPN assets present differ-
ent approaches to handling the burden parents feel as
they grapple with challenging decisions without a clear
roadmap. In one video, for example, the
parents of a boy with mucopolysaccha-
ridosis type III and their palliative care
doctor discuss jointly making decisions
about spinal surgery and a feeding tube.
In another video, the mother of a now
12-year-old boy with spinal muscular
atrophy type I reflects on a particularly
difficult decision she made without the
support of a clinician or her co-parent.
She invokes a higher power, which frees
her of some of the anxiety and stress.
Health care professionals have said
they value CPN as a resource that helps
them lessen the isolation families ex-
perience and that provides an extra
source of support to families 24/7 at
no cost. Providers also are using the content in med-
ical education and training. Through the reflection
and sometimes raw emotion of parents, providers
learn about the internal machinations of parental
reasoning and how some parents may be processing
at critical junctures. By design, this will raise ques-
tions of how the medical team might better support
parents as they seek answers.
Courageous Parents Network is available at www.
courageousparentsnetwork.org. Family referral cards
are available by emailing connect@courageouspar
Blyth Lord is founder and executive
director of Courageous Parents Network and is an affiliate member of the
AAP Section on Hospice and Palliative
by Michael A. Lopez, M.D., Ph.D., and
Timothy E. Lotze, M.D., FAAP
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are neuromuscular
diseases with early onset, progressive weakness and
previously without mutation-specific therapies. This
is no longer the case with recent Food and Drug Administration (FDA) approval of eteplirsen (Exondys
51) and nusinersen (Spinraza).
Eteplirsen was approved in September 2016 for
DMD. Nusinersen was approved in December 2016
for SMA. Additionally, deflazacort (Emflaza), an alternative corticosteroid to prednisone for treatment
of DMD, received FDA approval in February.
Corticosteroid treatment of DMD
DMD is an X-linked skeletal muscle disease
caused by deletion, duplications or nonsense mu-
tations in the dystrophin gene leading to complete
absence of dystrophin protein. Boys with DMD lose
ambulation by preteen years and die from respirato-
ry failure or cardiomyopathy in their 20s.
Corticosteroids slow the loss of strength, have car-diopulmonary benefits and are a mainstay of treatment (Bushby K, et al. Lancet Neurol. 2010;9:77-
93, 177-189). However, chronic steroid use leads to
adverse side effects.
Until this year, prednisone had been the principal
steroid used in the United States. The FDA approved
deflazacort based on a comparative study with prednisone, which found that deflazacort had a slightly more
favorable side effect profile with comparable efficacy
(Griggs RC, et al. Neurology 2016;87:2123-2131).
Targeted therapy with eteplirsen
Exon deletions in dystrophin account for 80% of
pathogenic mutations and cause an “out-of-frame”
disruption in the nucleotide transcription, resulting
in the complete absence of functional protein produc-
tion. Targeted therapy with eteplirsen, a novel anti-
sense oligonucleotide, changes an “out-of-frame” de-
letion to an “in-frame” deletion by causing “skipping”
of exon 51 in the transcription of the gene, allowing
for partial dystrophin production and potentially
changing the course from that of severe Duchenne
muscular dystrophy to milder Becker muscular dys-
trophy. This new class of drug is designed for specific
gene mutations amenable to exon 51 skipping, ac-
counting for 10% of DMD patients. Clinical trials
for other types of DMD mutations are underway.
FDA approval of eteplirsen was conditional due to
concerns among experts regarding the small number
of patients in the pivotal clinical trial and evidence
of clinically meaningful efficacy in the six-minute
walk test outcome measure. Notably, dystrophin
expression in muscle biopsy samples was enhanced
following treatment (Mendell JR, et al. Ann Neurol.
2013;74:637-647; Mendell JR, et al. Ann Neurol.
2016;79:257-271). A two-year follow-up study is
due by 2020 to address these concerns.
Resource for families of seriously ill children
supports shared decision-making
A valuable referral resource for pediatric providers, Courageous
Parents Network can help families cope with the emotional and
psychological issues that arise when caring for children with serious
chronic conditions or life-threatening illness.
Novel therapeutic advances for muscular dystrophy, spinal muscular atrophy
See Therapeutic advances, page 9