Journal of Neuromuscular Diseases xx (20xx) x–xx 1

DOI 10.3233/JND-180330
IOS Press

1 Research report

2 Perspectives on Spinraza (Nusinersen)

Treatment Study: Views of Individuals and

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4 Parents of Children Diagnosed with Spinal
5 Muscular Atrophy

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6 M. Pacionea , C.E. Siskindb , J.W. Dayb and H.K. Taborc,∗
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a Department of Genetics, Stanford University School of Medicine, Stanford, California, USA

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b Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, California, USA
c Department of Medicine, Stanford Center for Biomedical Ethics, Stanford University, Stanford, California, USA

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10 Abstract.
11 Background: Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. In December 2016 the
12 FDA approved the first and only treatment drug for SMA: Spinraza (nusinersen). Despite excitement and optimism, there
13 are no published data on the perceptions of individuals with SMA and their families about the benefits, risks, and challenges
14 associated with treatment.
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15 Objective: This qualitative interview study sought to characterize the perspectives of patients/families with SMA who did
16 not want, or were unsure about, receiving this new innovative treatment for a previously untreatable and often fatal condition.
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17 Methods: Individuals and families were recruited via advertisements on Facebook groups related to SMA and through the
18 Stanford Neuromuscular Contact Registry. Participants completed a demographic questionnaire and participated in a semi-
19 structured interview via voice conferencing. Interview questions focused on: 1) experiences with SMA, 2) opinions about
20 Spinraza treatment, and 3) factors considered in decisions regarding treatment.
21 Results: Thirteen people were interviewed: ten adults with SMA (ages 27–48, nine with Type II) and three parents of
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22 minor children with SMA (one each of Types I, II and III). Qualitative content analysis identified a range of opinions about
23 Spinraza treatment: five were uninterested (2 adults, 3 parents), four adults were still deciding whether to pursue treatment,
24 three adults were interested or in the process of pursuing treatment, and one adult was currently receiving the drug after
25 overcoming significant reluctance. Participants described several key factors influencing their treatment decisions, including:
concerns about risk factors and side effects, high cost, insurance coverage, time involvement, and lack of data about efficacy.
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Participants reported learning about most of these factors through parent/patient testimonials on SMA-specific social media
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groups.
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Conclusions: Participants reported basing decisions about pursuing Spinraza on a variety of practical and value-based
considerations. They described carefully weighing the perceived potential benefits and risks of treatment through the lens
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of their current quality of life and prognosis. These findings suggest that providers should be aware that some patients and
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parents, especially those with Types II-IV, may approach treatment decisions differently than parents of children with SMA
I. Informed treatment decisions can be supported through: 1) the collection and dissemination of better data on Spinraza

∗ Correspondence to: Holly Tabor, Stanford Center for Biomed-

ical Ethics, Stanford University, Stanford, California, 94305, USA.

Tel.: +1 650 498 5308; E-mail: hktabor@stanford.edu.

ISSN 2214-3599/18/$35.00 © 2018 – IOS Press and the authors. All rights reserved
 2 M. Pacione et al. / Perspectives on Spinraza Treatment

35 treatment in these populations; 2) clear communication about risks, side effects and eligibility; 3) improved access to payment
36 and treatment facilities; and 4) facilitation of discussions between providers and patients/families about identity and disability
37 in the context of goals of care and other life and support challenges.

Keywords: Spinal muscular atrophy, drug therapy, qualitative research, clinical decision making, health care costs, insurance
coverage, health services accessibility, risk factors
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35 INTRODUCTION the patient’s life. Spinraza is covered by most major 77

commercial payors. In the United States, if a patient 78

36 The recent emergence of gene therapy technolo- is denied coverage by their insurance, the manufac- 79

37 gies has led to the development of therapies to treat turer, Biogen, will provide the drug free of charge 80

38 once incurable diseases. One important recent exam- [6, 7]. In spite of this, there have been numerous 81

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39 ple is with the development of effective treatments media reports of patients and families having chal- 82

40 for spinal muscular atrophy (SMA). SMA is a genetic lenges getting insurance coverage or getting access 83

41 disorder characterized by muscle atrophy due to the to administration sites [8, 9]. 84

42 degeneration of motor neurons. There are four types There is some literature about experiences and per- 85

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43 of SMA categorized by the functional outcome of the spectives of individuals and families of children with 86

44 muscle weakness. Individuals with Type I have onset SMA [10, 11], however most if not all of these stud- 87

45 within the first few months of life and experience the ies predate the approval and availability of Spinraza. 88

46 most severe symptoms, including lack of head sup- Some of these articles have focused on patient, parent 89

47 port, never achieving the ability to sit unassisted, and and provider perspectives on newborn and prenatal 90
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48 difficulty breathing and swallowing. Type I patients screening, and the influence of perceptions of qual- 91

49 usually die in the first 1-2 years of life. Type II patients ity of life on these perspectives. In a mixed-methods 92

50 achieve the ability to sit independently but are never study, Boardman et al found that the majority (75%) 93

51 able to walk. Individuals with Type III gain motor were in favor of population screening programs (pre- 94

52 milestones to the point where they can walk with- conception and prenatal), but that perceptions about 95
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53 out support but lose function over time and may need screening varied according to severity (type) of SMA, 96

54 a wheelchair. Individuals with Type IV experience with more severely affected individuals with Type 97
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55 the mildest symptoms with later onset, often after II SMA being less likely to support population- 98

56 age 30 years, and moderate but progressive muscle level screening and view SMA positively than those 99

57 weakness. SMA is the most common genetic cause with milder, later onset and/or fluctuating symptoms 100

58 of infant mortality with an incidence of 1 in 11,000 (Types III/IV) [12, 13]. It is not clear how these 101

59 births [1, 2]. results, or how views of patients and families with 102
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60 In December 2016 the FDA approved the first and SMA about disability identity and quality of life may 103

61 to date only drug to treat SMA: Nusinersen (Spinraza) influence perspectives on treatment, although there 104

62 [3]. Spinraza is a genetic treatment that works by uti- are some anecdotal reports of patients who are con- 105

63 lizing and up-regulating a redundant gene to produce flicted about Spinraza treatment [14, 15]. 106
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64 working protein in the body that is missing in people While the approval of Spinraza has been heralded 107

65 with SMA [4]. Spinraza treatment begins with four by many as bringing optimism and hope to many 108

66 loading doses in the first eight weeks of starting the individuals with SMA, there is no information regard- 109

67 medication, and then maintenance dosing every four ing the perceptions and individual preferences of 110
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68 months thereafter. It is administered via an intrathecal individuals with SMA about this treatment. Specif- 111

69 injection. For people with spinal fusion or severe sco- ically, there is no data about how and why some 112

70 liosis, fluoroscopy guided lumbar puncture or other patients and families may be hesitant to pursue, or 113

71 non-fluoroscopy approaches are used. decide to forego, Spinraza treatment, and what fac- 114

72 The approval of Spinraza has been met with con- tors influence these decisions. Characterizing these 115

73 troversy and concern about ethical issues related to perspectives can help support providers and fami- 116

74 cost, access and potential risks [5]. The average cost lies in making informed treatment decisions about 117

75 of Spinraza is $750,000 for the drug alone in the first Spinraza, and in optimizing care for individuals and 118

76 year, followed by $375,000 annually for the rest of families with SMA. 119
 M. Pacione et al. / Perspectives on Spinraza Treatment 3

Table 1 in neurogenetics, bioethics, and qualitative research 156

Names of Facebook groups that received invitations to the study design) and one Stanford School of Medicine gradu- 157

A Cure for Spinal Muscular Atrophy ate student. The guide went through two rounds of 158
Bay Area Spinal Muscular Atrophy
piloting and refinement, including cognitive inter- 159
California Families with SMA
Living with MD viewing with four people. A final interview guide 160

Online Support for SMA included questions framed to allow participants to 161
SMA Support System discuss their experience with SMA, opinions on 162
SMA Type 3
Spinal Muscular Atrophy Physical Therapy
treatment, and what factors they considered in their 163

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Spinal Muscular Atrophy Support Group decision process regarding treatment (see Supple- 164

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TreatSMA mentary Material 1). All interviews were conducted 165

using Zoom, a secure voice conferencing application. 166

After completing the interview, participants were 167

120 MATERIALS AND METHODS given a $10 Amazon gift card, sent via email, as a 168

thank you for participating in the study. 169

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121 Study design
Data analysis 170

122 The purpose of the study was to explore the per-

123 spectives and decision processes of individuals with Interview recordings were transcribed and 171

SMA and parents of children with SMA who are uploaded into Dedoose, a qualitative data manage-

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124 172

125 uncertain, ambiguous, or have decided against pursu- ment and analysis software program (version 8.0.31). 173

126 ing treatment with Spinraza. Quantitative and qualita- Initial codes were formulated a priori based on the 174

127 tive data were gathered over four months between late semi-structured interview guide. Additional codes 175

128 2017 and early 2018, approximately one year after were developed iteratively after initial review of the 176
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129 Spinraza was approved. The Stanford Institutional transcripts to produce both structural and thematic 177

130 Review Board approved all aspects of this study. codes. Content analysis was conducted by two team 178

members (MP and HKT) to describe participants’ 179

131 Procedures views about Spinraza treatment [16]. These two 180

investigators independently coded all transcripts 181

Participants were recruited via three approaches: and reached consensus through discussion about
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132 182

133 1) posting an announcement to SMA and muscu- any discordance. Once all coding was finished, 183

summaries of each code’s output were completed,

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134 lar dystrophy Facebook support group pages (with 184

135 permission of a moderator if the group was closed) and larger themes were identified. Recruitment was 185

136 (Table 1); 2) emailing an announcement to the halted when data saturation was achieved (e.g. no 186

137 Stanford Neuromuscular Contact Registry; and 3) emergence of new codes) [17]. 187

138 snowball sampling. The Facebook group pages

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139 were identified by using the search terms “SMA”, RESULTS 188

140 “spinal muscular atrophy”, and “muscular dystro-

141 phy”. Recruitment materials described the study Sixteen individuals responded to the study 189

142 as, “a new study that aims to explore why indi- advertisements. Two prospective interviewees were 190
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143 viduals/parents of children diagnosed with Spinal excluded; one who did not live in the United States 191

144 Muscular Atrophy do not want to pursue Spin- and one whose child passed away from SMA prior 192

145 raza (nusinersen) treatment or are unsure about the to Spinraza’s approval. One interview was excluded 193

146 new treatment drug.” Participants were eligible for from analysis because the participant’s child was 194
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147 an interview if they were English speaking, had a receiving Spinraza and they did not report any 195

148 diagnosis of SMA or an affected child with SMA, hesitation or deliberation about pursuing treatment. 196

149 lived in the United States, were aware of Spinraza’s Interviews from thirteen participants were analyzed: 197

150 approval, and had either now or in the past expressed ten adults with SMA (ages 27–48 yrs.) and three 198

151 uncertainty or concerns about treatment. Intervie- parents, each with at least one affected child (rang- 199

152 wees completed a demographic questionnaire using ing from infancy to college-aged). Interviews ranged 200

153 RedCap database (version 8.4.1). from thirty minutes to one-hour and thirty minutes. Of 201

154 The interview guide was developed by a research those interviewed, by self-report 15.4% either had or 202

155 team including three senior researchers (specializing were the parent of an individual with SMA type I (one 203
 4 M. Pacione et al. / Perspectives on Spinraza Treatment

Table 2
Characteristics of Individuals who participated in a qualitative study on the perspectives of
individuals and parents of children diagnosed with SMA on Spinraza treatment
Participant Type Affected individual Parent of an Total
(10/13) affected child (3/13)
Interest in Spinraza
Not interested in treatment 2/10 2/3 4/13
Unsure about treatment 4/10 1/3 5/13
Interested in treatment 3/10 0/3 3/13

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Currently getting injections 1/10 0/3 1/13

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Type of SMA
Type I 1/10 1/3 2/13
Type II 8/10 1/3 9/13
Type III 1/10 1/3 2/13
Gender
Male 3/10 0/3 3/13
Female 7/10 3/3 10/13

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Age of Interviewee
21–40 5/10 2/3 7/13
41–60 5/10 2/3 6/13
Race
White/Caucasian 8/10 3/3 11/13

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Black/African 1/10 0/3 1/13
Asian 1/10 0/3 1/13
Highest level of education completed
High School/GED 0/10 1/3 1/13
Associate 2/10 1/3 3/13
Bachelor 3/10 0/3 3/13
Master 4/10 0/3 4/13
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Doctorate 1/10 1/3 2/13

204 adult and one parent), 69.2% either had or were the Access to information about Spinraza 228

205 parent of an individual with SMA type II (eight adults Participants described getting information about 229

and one parent), and 15.4% either had or were the par- Spinraza from a variety of sources, both digital and
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206 230

207 ent of an individual with SMA type III (one adult and traditional, including: Biogen (the drug company 231

one parent of a child with SMA). The majority of the that produces Spinraza), FDA reports, CureSMA.org,
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208 232

209 participants were female (76.9%), Caucasian (84.6%) clinicians, peers, and social media, specifically Face- 233

210 and had at least some college education (92.3%). book groups. All participants stated that they were 234

211 There was a wide geographic distribution, with par- members of one or more Facebook groups for indi- 235

212 ticipants residing in: Alaska, Arkansas, California, viduals with SMA and a majority (n = 10) volunteered 236
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213 Florida, Illinois, Minnesota, New Jersey, and Texas. that this platform was their primary source of trusted 237

214 See Table 2 for further demographic details. information. 238

“Definitely . . . the Facebook group [has been the 239

215 Factors that influence treatment decisions most helpful] . . . I definitely trust when some- 240
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body in the group posts something that they 241

216 Participants described nine key factors influencing did their due diligence to research it and find 242
217 their decisions about Spinraza treatment (Table 3). that article and share it with us. I receive a lot 243
218 These factors were not presented as distinct entities, more information that way than even through . . .
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219 but rather discussed concurrently and often as related provider emails, Navigating SMA and some other 245
220 and connected phenomena. We asked participants SMA group, Cure SMA maybe . . . I get 1/10th 246
221 which, if any, was most influential in their decision of the information from these sources than I actu- 247
222 process. As seen in Table 3, there was not one fac- ally do from the Facebook group.” – P11 (Adult, 248
223 tor that a majority cited as being the most influential. SMA III) 249
224 Factors clustered into three general categories: factors
225 related to information, barriers to access, and overar- Participants described depending on social media 250

226 ching goals and values of those individuals diagnosed as a source of logistical information about Spin- 251

227 with SMA. raza coming directly from SMA patients and families 252
 M. Pacione et al. / Perspectives on Spinraza Treatment 5

Table 3
Factors influencing decisions about Spinraza treatment
Category Factor Number of Number of
participants that participants that
referenced factor (%) mentioned as their top
factor:
Factors related to information Access to information 4/13 (30.8%) 2
Lack of data 9/13 (69.2%) 3
Risk factors/Side effects 12/13 (92.3%) 2

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Barriers to access Cost/Insurance 11/13 (84.6%) 2

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Time 9/13 (69.2%) 1
Transportation 3/13 (23.1%) 1
Overarching goals and values Functional status 8/13 (61.5%) 1
Alternate treatment option 7/13 (53.8%) 0
Disability identity 5/13 (38.5%) 1

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253 including: research updates, descriptions of how to beginning the oldest person that they had tried it 289

254 navigate insurance and reimbursement, listings of on was 15. When I was 15, I had lot more strength 290

255 clinics that will perform the injections, and the injec- than I do in my 40’s . . . if they were going to do all 291

256 tion protocols at various clinical sites. Participants that research and get it approved across the board 292

also highlighted the unique ability of social media then I felt like they should’ve thought about that

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257 293

258 to allow sharing of videos and photos of progress of and done some studies with adults.” – P11 (Adult, 294

259 first-person experiences of Spinraza injections and SMA III) 295

260 post injection progress. As one adult with SMA II

Some parents (n = 3) also described concerns about 296
261 said, “I joined all the Facebook groups and it sounds
the lack of data about outcomes if treatment needed 297
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262 like everyone’s blogging their exact details about their
to be stopped in the future, for example if insurance 298
263 experience, so I feel like I actually know step by step
decided to stop covering it. 299
264 what happens . . . ”– P12 (Adult, SMA II)
265 A few participants described concerns about the “What happens if she doesn’t get the drug? After 300

266 reliability of some information from social media. For we do the loading doses, what happens if she’s 301

example, one adult described confusion about social sick and she can’t get the drug? How far back are
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267 302

268 media information about eligibility for those with we going to regress? What happens if no insur- 303

spinal fusions: “I don’t know if it was true but it was

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269 ance is ever guaranteed? What happens if we can’t 304

270 going around the [Facebook] group and some of my pay for it? What happens if . . . she’s 13 and tells 305

271 peers [said] that if you had scoliosis surgery, it would me, “I don’t want to do this any more. I’m old 306

272 knock you out of being able to receive it [Spinraza].” enough to make my decisions. I don’t want to do 307

273 – P11 (Adult, SMA III) Another adult described how it.” How far back are we going to regress if we 308
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274 a doctor criticized her use of social media to obtain take her off of it? That emotional rollercoaster 309

275 information: “The doctors got really upset with me of knowing she could get stronger and then not 310

276 because they said it’s [information from social media] knowing what would happen off of it terrified us.” 311

277 not data it’s anecdotal and I shouldn’t pay attention, – P3 (Parent, SMA II) 312
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278 but it’s all that I have.”– P12 (Adult, SMA II)
Risk factors/Side effects 313

279 Lack of empiric data about Spinraza Most interviewees (n = 12) expressed concern 314

Several participants with SMA Types II and III about risk factors and side effects of Spinraza, and 315
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280

281 (n = 7) cited lack of data on efficacy and long-term said this influenced their treatment decisions. Some 316

282 effects of Spinraza in adults with SMA as a key expressed specific concerns about the lumbar punc- 317

283 concern and barrier to deciding whether to pursue ture and anesthesia, including breathing or bleeding 318

284 treatment. complications, extreme pain, spinal headaches, and 319

bacterial meningitis. They were concerned that these 320

285 “I guess in the beginning I wouldn’t say I was potential adverse outcomes would interfere with their 321

286 jealous, but I was frustrated that there wasn’t daily lives. Many also did not know what to expect 322

287 more research done on adults and it was approved about potential long-term risk factors, in part because 323

288 for adults through all ages, but I think in the of the lack of long-term data about the drug: “I’m not 324
 6 M. Pacione et al. / Perspectives on Spinraza Treatment

325 too excited about any side effects... If I’m going to impossible” – P12 (Adult, SMA II). Despite the chal- 375

326 get into spinal injections, I want to make sure that the lenges of working with insurance, several participants 376

327 long-term effects of it are not going to come back and felt that it would be possible to get coverage for treat- 377

328 bite me down the line” – P1 (Adult, SMA III) ment: “it has been extremely difficult but it’s doable.” 378

329 Despite concerns, the three adult participants who – P12 (Adult, SMA II). 379

330 were interested in pursuing Spinraza and the one Many participants (n = 9) expressed concern about 380

331 ambivalent adult who had started receiving the drug the need for lifelong medical insurance coverage 381

332 at the time of the interview felt that the benefits of to pay for anticipated lifelong treatment. Several 382

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333 treatment outweighed the risks or side effects. As a expressed concern about the implications of doing 383

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334 participant said: “As far as painful, or being painful, anything that might require changes to insurance cov- 384

335 or uncomfortable, I’m not worried about that. Again, erage, such as changing jobs. One participant feared 385

336 it’s like headaches or something. It seems like my that with the advent of a treatment for SMA, insur- 386

337 sacrifice is worth the outcome it would do for you.” ance companies might stop paying for other services 387

338 – P9 (Adult, SMA I). and equipment needed by SMA patients. 388

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339 Cost/Insurance “The problem is I worry that down the line . . . if 389

340 Almost all participants (n = 11) mentioned the high I say, “Hey, insurance company, will you pay for 390

341 cost of Spinraza as a barrier or potential barrier to my new wheelchair,” and the insurance company 391

says, “Well, why aren’t you getting Spinraza,” and

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392
342 accessing treatment. They stated that they would not
343 be able to afford the drug if it were not covered I say, “Well, because I don’t want to get Spinraza,” 393

344 by insurance or by the drug company, now or in and they’re like, “Well, we’re not going to pay for 394

345 the future. They also described a slow and arduous your new wheelchair because, theoretically, you 395

346 process to get insurance approval, and concerns that wouldn’t be in a wheelchair if you took Spinraza,” 396

– P1 (Adult, SMA III)

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347 some may not get insurance coverage at all. Two par-
348 ticipants stated that their insurance providers (Kaiser
349 and Medi-Cal) had already denied coverage of their Time 398

350 treatment. As one adult said: “I think that there’s a Time was referenced as a barrier to accessing Spin- 399

351 non-negligible percentage of the SMA community raza in three ways: 1) the length of time required to 400

who are still fighting very, very hard to get access get approval for and receive Spinraza; 2) the time
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352 401

353 to Spinraza... and I know now it’s because of the burden required to get regular injections and manage 402
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354 insurance blockages.” – P14 (Adult, SMA II) Another side effects; and 3) the need for a lifelong commit- 403

355 adult described the arduous process of getting an ment to treatment with the drug. Ten participants 404

356 insurance denial and then applying for coverage of the stated concerns about the amount of time involved 405

357 drug through the Biogen “Free Drug Program” [7]: in getting the drug. Three participants specifically 406

stated concerns about the time for communication 407

“If you’re lucky it’s going to take six months,
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358
and approvals between insurance companies, Bio- 408
359 if you’re not it’s going to take around nine to
gen, and clinicians. Some (n = 4) mentioned they felt 409
360 ten months to get the first dose . . . it’s just a bat-
that this wait time was unacceptable because of the 410
361 tle between the insurance and the doctor, if they
progression of their disease. 411
362 approve it or they deny it. If the insurance denied
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A majority of participants also asserted that the 412

363 it three times it is possible to get a free version
cumulative time needed to get the injections could be 413
364 through Biogen, so either way it’s going to take
lengthy, referencing that many peers have had to take 414
365 around at least half a year.” –P10 (Adult, SMA II)
off work before and after each intrathecal injection 415
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366 Others said that even if the drug itself was paid for due to travel and/or side effects. One participant said, 416

367 by insurance or through the drug company, there were “I had one friend that got it, and he really didn’t notice 417

368 still many other associated costs with the procedure a big change, and, I don’t know, he’s missed three 418

369 that make getting treatment challenging, including weeks of work due to spinal headaches . . . that was a 419

370 transportation fees and the cost of missing work. One real deterrent.” – P1 (Adult, SMA III) Other partici- 420

371 adult said, “without the insurance there’s no way it pants (n = 3) described concerns about the amount of 421

372 would happen, because even with Biogen support time it would take to get to clinic sites, given the lim- 422

373 they don’t cover the procedures that I need as an ited number of facilities that are providing the drug 423

374 adult to go along with it, so the cost would have been and the lack of proximity to where they live. 424
 M. Pacione et al. / Perspectives on Spinraza Treatment 7

425 Several participants expressed concerns about the since it’s come out and with any type of technology 474

426 length of time needed for the potentially life-long or medicine, the longer it’s used, and the more people 475

427 commitment to Spinraza treatment. They were unsure use it, the better it gets.” - P11 (Adult, SMA II). 476

428 that they want to be tied to a treatment that is expen- One participant explained that her (recently 477

429 sive, possibly painful, and potentially disruptive to deceased) child with SMA I was so significantly 478

430 their daily life. As one adult with SMA II said, “If it impacted that, in her opinion, Spinraza would have 479

431 was even like once a year that you had to get a new been unlikely to positively affect movement or 480

432 dose or something I think that would be better but it’s improve his quality of life. 481

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433 every four months and just the thought of having to

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434 do that for the rest of my life to receive any of the “Dr. [Name] was pretty much like even if we put 482

435 benefits, it’s daunting.” – P11 (Adult, SMA II). some loading doses in, he is still going to have to 483

go onto a ventilator and really the decision came 484

down to are you willing to have a child that just 485

436 Transportation/Travel
lays in a bed all day on a ventilator and can’t do 486
437 A few participants (n = 3) described specific chal-

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anything and is that right for your child? Like 487
438 lenges around lack of transportation to the clinic
what’s the humane thing to do? What’s the com- 488
439 sites that would make getting Spinraza very difficult.
passionate thing to do?... So it was a quality of 489
440 Even with reliable transportation, commuting can be
life issue for me . . . you have to understand at 490
441 a challenge for patients in wheelchairs and frequently
this point my son, he could barely move a finger. 491

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442 requires support from a personal care assistant, family
He was like completely paralyzed so there was 492
443 member, or friend. Some participants expressed that
no like, his chest was already caving in, and he 493
444 these are challenges they already experience when
would have lived a horrible life, even with the 494
445 getting their routine medical care, so adding more
drug. - P2 (Parent, SMA I) 495
446 travel time and need for transportation assistance on
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447 top could pose a significant barrier. One adult with Other patients, mostly adults with SMA II (n = 5), 496

448 SMA II said: “How’s it going to affect our life; there’s believed that Spinraza’s ability to stop or slow pro- 497

449 inconveniences with the extra doctors appointments gression was enough motivation to pursue treatment. 498

450 that we already have and don’t necessarily want more They did not want to lose function and depend on 499

451 of.” – P8 (Adult, SMA II). more assistance than they already required. They 500
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452 Others also noted that clinics that offer Spinraza viewed Spinraza as potentially allowing them to have 501

453 are very far away, requiring more time, money for a higher quality of life with the maintenance of their 502
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454 travel, and assistance on a regular basis. independence. 503

455 “There’s a lot of hassle. First of all, my city where “I want to feed myself, I want to use my phone 504

456 I live in doesn’t have any administration site. I independently. I want to drive my chair without 505

457 would have to travel in order to pursue it. I work having to think about it. It’s all these little things 506
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458 full time, so I have a job and I only have a limited that I kind of didn’t even consider . . . Before that 507

459 amount of time off . . . I don’t have money to pay progression I was able to have a certain level 508

460 someone to travel with me out-of-town and pos- of independence and interdependence that I was 509

461 sibly get a hotel if I need It.” – P1 (Adult, SMA really comfortable with and this new progression 510

III) has required a different level of help from others

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462 511

that was new and scary and felt pretty invasive 512

463 Quality of life and functional status and uncomfortable.” – P14 (Adult, SMA II) 513

464 Several patients and parents described the qual-

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465 ity of life and functional status of the adult or child Alternative treatment options 514

466 with SMA as influencing treatment decisions to pur- Participants were asked if they viewed Spinraza 515

467 sue treatment. Some individuals (n = 3) who still had as a cure and/or wanted alternative treatments if and 516

468 some level of independence, such as eating or operat- when they became available. None of the participants 517

469 ing a wheelchair believed they had the time to gather viewed the drug as a cure, but they used this question 518

470 more data and/or wait for a better drug. As one adult as an opportunity to explain and articulate their per- 519

471 said: “I feel like while I’m not physically healthy, I’m ception of this treatment and why it did not constitute 520

472 not sick either . . . I’m still at a point in my life that I “a cure” (Table 4). Reasons included the amount of 521

473 can wait it out for a bit longer . . . It’s only been a year effort/medical care to get the drug administered, the 522
 8 M. Pacione et al. / Perspectives on Spinraza Treatment

Table 4
Illustrative participant responses to the question: “Do you view Spinraza as a cure?”
Illustrative Quote
“Do you really think you’re going to be walking from this? You really think this is going to fix all your problems?” Come on. No, no, no,
no.” – P1 (Adult, SMA III)
“Even if they had done some loading doses of Spinraza it wouldn’t, its not a cure, its just, people are like oh my god he moved his pinky, he
hasn’t moved his pinky in three years, and that’s not what I’m looking for.” – P2 (Parent, SMA I)
“To get an injection four times a year in your spine, doesn’t really read cure to me.” – P4 (Parent, SMA III)
“Well, I’m never going to be cured. My body is very atrophied. I know I’ll never walk or play football or anything like that” – P7 (Adult,

f
SMA II)

roo
“I feel like while Spinraza helps it does not stop the repercussions of having SMA.” – P11 (Adult, SMA III)
“I hope it [a future drug] will have the effect of like the polio vaccine after polio” – P14 (Adult, SMA II)

523 length of time that the drug is needed, the perceived broadly, on disability in general. They were alarmed 560

524 lack of significant functional improvements or rever- that the medical community, insurance companies, 561

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525 sals of functional decline, and the lack of significant and society would rather spend an exorbitant amount 562

526 changes in the kinds of activities that they would be for adults with SMA to gain, at most, a small amount 563

527 able to engage in. of function back, rather than using these funds to pro- 564

528 Several participants with SMA II or III had decided vide them with what they need to survive comfortably 565

not to pursue Spinraza treatment (n = 2) or were unde- and independently.

tho
529 566

530 cided (n = 3), in part because they were aware of other

“I’m 40 years old, right. . . . Based on my pro- 567
531 drugs in the drug development or approval pipeline.
gression, what I can see, I’ve given myself 20 568
532 Despite concerns about their own disease progres-
good years. If I took that 20 years and I put that 569
533 sion, they were willing to wait for a treatment that
towards Spinraza, like if I took 20 years of Spin- 570
Au
534 was less invasive, costly, or time-consuming. Many
raza, then it would amount to about I think close to 571
535 participants stated that they would be more likely to
eight million dollars, right. If I had eight million 572
536 take a drug that was, for example, a one-time pill.
dollars handed to me and somebody said, “[Inter- 573

537 “The idea of travelling somewhere and having to viewee], you can either take Spinraza and you 574

538 get out of my chair, go through an injection in my might be able to open the hell out of this Ziploc 575
d

539 spine. The idea of the cost being $125,000 each container . . . or you can take this eight million 576

540 shot... If it was a pill, like if it was a prescribed dollars and get all the intended care you need to 577
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541 pill, and my doctor was like, “Yeah, take this. I’ll never have to fight to get a new wheelchair. You 578

542 prescribe it for you. Go pick it up at the phar- can swim in a pool. You can have an accessi- 579

543 macy.” Yeah, I’d be all over that.” – P1 (Adult, ble home. You can go anywhere you want to go. 580

544 SMA III) You never have to worry about your van break- 581

ing down.” Everything that I could ever need that

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582
545 Others felt that future treatments, specifically gene would help me stay healthy and independent, I 583
546 therapy, would be more effective than Spinraza, could buy with this eight million dollars, right, 584
547 though they understood this technology is still in the over being able to open a Ziploc container really 585
548 clinical trial phase. As one parent said, “I think the well. I would be more cured if I put $8 million 586
co

549 real cure is going to be in the gene therapy where they towards that than to this drug. To me, the prior- 587
550 can just correct the gene at birth, that’s going to be ity is very medically-driven . . . the cost, it really 588
551 the real cure. But Spinraza is kind of like a band-aid hurts me, it hurts people and it hurts our world 589
552 until the gene therapy comes through in my opinion.” because it’s putting a value on the idea of a cure
Un

590
553 – P2 (Parent, SMA I). that really isn’t really there... an overall idea of 591

disability being so atrocious that being able to 592

554 Disability identity open a Ziploc container is more important than 593

having a full life that you can engage with.” – P1 594

555 Some individuals/parents with SMA Types II and
(Adult, SMA III) 595
556 III (n = 4) viewed Spinraza treatment in part through a
557 disability identity lens. Two adults with SMA (Types These participants critiqued Spinraza as part of a 596

558 II and III) expressed concerns about the cost of the medical model of disability: it made them feel as 597

559 drug putting a price tag on their worth, and more though they had a sickness and others were trying to 598
 M. Pacione et al. / Perspectives on Spinraza Treatment 9

599 cure or “fix” them. As one adult said, “It’s like you’re instance, my daughter’s in an ivy league college 649

600 broken and people are constantly trying to fix you” and if she wants to go get treatment. I mean . . . “ 650

601 – P1 (Adult, SMA III). They viewed SMA as part of – P4 (Parent, SMA Type III) 651

602 their identity as disabled people, and though they had

603 physical differences, did not feel as though it was an
604 illness to eradicate. They expressed concern that this DISCUSSION 652

605 new drug, as well as others that are currently in the

606 pipeline, might perpetuate negative views about their The goal of this study was to characterize the 653

f
607 condition and about disability in general. perspectives of patients/families with SMA who did 654

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608 One participant described her challenge in recon- not want, or were unsure about, receiving Spin- 655

609 ciling her decision to get Spinraza with her disability raza treatment. The participants in this study framed 656

610 identity and advocacy work. She described deciding their decisions about pursuing Spinraza as nuanced, 657

611 to pursue treatment after being surprised by some challenging and context-specific. Somewhat surpris- 658

612 new functional declines and prioritizing her desire to ingly, cost was not the main factor described. Rather, 659

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613 maintain as much independence and functional abil- participants described a blend of numerous fac- 660

614 ity as possible for as long as possible. However, the tors influencing treatment decisions including, but 661

615 treatment decision was difficult for her, and one that extending beyond cost: availability of information, 662

616 she described still struggling with two weeks after risk factors and side effects of treatment, insurance 663

tho
617 starting injections. approval challenges, time constraints, transportation 664

and travel to clinical sites, functional status, disabil- 665

618 “How do I reconcile being a disability rights ity identity, and the hope for an alternative drug. 666
619 activist and being in the movement, and making These factors were not described independently of 667
620 out my life’s work while still pursuing Spinraza, one another, but rather were enmeshed, with some 668
they still seem inherently contradictory to me and
621
Au
participants describing more than five factors in a sin- 669
622 I don’t have an answer for how to reconcile them. gle train of thought. This revealed the complexity and 670
623 I was kind of just in denial about it for a while . . . difficulty involved in treatment decisions for some. 671
624 and then I got to neurology and as soon as they got Our study suggests that at least some patients and 672
625 the needle into the hole for the lumbar puncture I families are not getting adequate or accurate infor- 673
626 started sobbing because I felt like I was betraying mation about treatment, and that Spinraza may have
d

674
627 my community, my values. I didn’t know who I introduced as much confusion as it has hope. Some of 675
628 was anymore.” – P14 (Adult, SMA II)
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this lack of information can be attributed to the accel- 676

629 Two parents of children with SMA (Types II and erated approval of Spinraza, which was authorized 677

630 III) specifically stated that they would rather put their by the FDA after reviewing data derived from clin- 678

631 efforts into living a life that is not focused on medical ical trials involving fewer than 200 patient-subjects 679

treatment or a medical model of disability, but rather over just a few years [3, 4, 18]. Many participants 680
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632

633 on participation in meaningful activities and positive also expressed concerns about the lack of trial data 681

634 self worth. One parent said, “It just is not a good fit for adults with SMA types II-IV, and the lack of data 682

635 for our family and our lifestyle because our whole about long-term benefits and side effects. 683

636 goal with [Child] is to not make her feel disabled, to Because of this limited information, participants 684
co

637 not have her life focused around hospitals . . . That described using social media to find information 685

638 would take her out of school and out of her social and patient testimonials about the drug. Other stud- 686

639 life. I think that would . . . destroy her and send her ies have demonstrated that social media, specifically 687

into a depression.” – P3 (Parent, SMA II) One parent Facebook, provides an easy, interactive platform for 688
Un

640

641 of a college-aged child with SMA Type III echoed people to communicate about medical information, 689

642 worry about the potential disruption of treatment to including about unique conditions [19]. Our partic- 690

643 daily life. ipants described their trust and confidence in the 691

information about Spinraza that they gathered from 692

644 “It seems to me that when you do these treat- Facebook. However, our study also demonstrated that 693

645 ments you have to be resting for three days after some individuals receive misinformation from social 694

646 or something. Your life is revolved around these media sources, including about treatment practices 695

647 treatments and certainly that’s some other fac- and eligibility. This is consistent with studies of social 696

648 tor that needs to be looked at for somebody. For media showing misleading information about drugs 697
 10 M. Pacione et al. / Perspectives on Spinraza Treatment

698 soon after their approval [18]. Participants reported These findings are not inconsistent with those from 750

699 a desire for other, potentially more reliable sources other studies. Several publications have described 751

700 of information in an easily accessible location, such distinct preferences and views of quality of life and 752

701 as the Biogen website, where drug data, testimoni- identity among adults with SMA Type II, as com- 753

702 als, eligibility information, and procedure protocols pared to parents of children with SMA Type I and 754

703 can be found. It also suggests that clinicians should adults with SMA Type III [9, 10, 21, 22]. In general, 755

704 be aware of, and perhaps observe, the disease- and those who have had a disability most of their lives, 756

705 treatment-specific social media groups in order to and who find it relatively static (e.g. Type II adults) 757

f
706 inform patients, and discuss the information they find view the condition as an “integral and highly valued 758

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707 there. part of their sense of self”. Those who see declines 759

708 Spinraza, like many innovative therapies, has the in function, or in whom onset is later, generally have 760

709 ability to turn a life-threatening disability into a a less positive view of the condition and more posi- 761

710 chronic condition, but likely fails to mitigate or elim- tive perspectives on population genetic screening or 762

711 inate all functional limitations and symptoms. King potential treatment or cures [9, 10, 21, 22, 23]. Our 763

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712 and Bishop have described this phenomenon as “pal- findings showed concern about the influence of treat- 764

713 liative intervention” [18]. In such a context, both ment based on a disability identity perspective from 765

714 the treatment itself and the process of getting treat- each of Types I, II and III, but due to our small sample 766

715 ment affects short- and long-term quality of life in size we cannot reliably detect or assess between- 767

tho
716 both positive and negative ways. According to the subtype differences about these issues. 768

717 World Health Organization, quality of life is defined Our results suggest that clinicians should engage 769

718 as individuals’ perceptions of their situation in life patients in explicit discussions about a variety of top- 770

719 in the context of culture, values, goals, expecta- ics related to treatment decisions. First, they should 771

720 tions, standards, and concerns [20]. In weighing the elicit patients’ awareness and knowledge about the 772
Au
721 factors described above, our participants generally natural history of SMA. Among our participants not 773

722 articulated one of two perspectives: 1) the long-term pursuing Spinraza treatment, there was no sponta- 774

723 functional improvements of Spinraza treatment out- neous mention of potential functional decline and 775

724 weigh any potential other challenges to quality of disease progression, as there was among participants 776

725 life, and 2) the short-term challenges and impacts pursuing or undecided about treatment. There are 777

of treatment on quality of life do not outweigh any several possible explanations for this observation.
d

726 778

727 potential benefits. Participants who prioritized func- Participants may have chosen not to pursue Spinraza 779
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728 tional independence above all else were willing to knowing full well the imminent functional decline 780

729 sacrifice short-term impacts on time, money, and con- they will face, or they may have decided against it, not 781

730 cerns about disability identity to achieve those goals. recognizing the totality of its progression. This cannot 782

731 In contrast, others were not willing to do so. be discerned from our study, but nonetheless high- 783

732 Our findings on disability identity suggest that lights the need for clinicians to ensure patients have 784
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733 some people across SMA subtypes struggle with knowledge of the disease, treatment, risks and bene- 785

734 reconciling Spinraza treatment and cost with their fits, and potential alternate drugs in development, in 786

735 perspectives on disability identity. Specifically, indi- order to make informed decisions. 787

736 viduals with Types II and III expressed concern about Clinicians also should discuss and ask questions 788
co

737 the cost putting a price tag on their worth, and giv- about patients’ values, goals, and knowledge base 789

738 ing credence to a medical model of disability that (Table 5) while improving dissemination of informa- 790

739 viewed them as something to be “fixed” or ignored tion about Spinraza. In order to make value-based 791

740 other expensive equipment and supports that are per- treatment decisions, self-awareness by the patient 792
Un

741 haps more essential to improving their functional is key [24]. However, patients do not always have 793

742 ability and quality of life. Given the specific require- this consciousness and so clinicians should be pre- 794

743 ments for Spinraza treatment (e.g., repeated trips to pared to assist patients with self-reflection and an 795

744 a hospital that may be far away for injections, time understanding of personal desires. By being attuned 796

745 off of work or school), several adults and parents to these values and priorities, clinicians may garner 797

746 expressed concern that pursuing treatment would lead trust and allow for shared decision-making to occur 798

747 to a shift away from a focus on quality of life, and in between practitioner and patient. Further, although 799

748 fact reduce quality of life by interfering with other only a minority of participants mentioned disability 800

749 activities. identity, it is clearly relevant and emotionally, socially 801

 M. Pacione et al. / Perspectives on Spinraza Treatment 11

Table 5
Recommendation of information to discuss with patients and families considering Spinraza
Topics to discuss: Sample questions to ask families:
Patient testimonials (with Have you been able to view the experiences of other patients? If so where? Are you using any social
images and/or videos) media platforms such as Facebook?
Eligibility criteria Do you have any concerns about your spinal fusion or scoliosis in regard to treatment?
Research data Where have you gotten your information about Spinraza? Have you looked at the Biogen website?
(https://www.accessdata.fda.gov/drugsatfda docs/nda/2016/209531Orig1s000MedR.pdf)
Ways to navigate Have you had difficulty submitting any insurance claims?

f
insurance

Transportation options
Natural history of SMA
Patient values and
priorities
roo
Do you think transportation will be a barrier? How?
In regard to functional status, where do you see yourself in a year? 5 years? 10 years?
What values are important to you when making treatment decisions? How do you prioritize
independence, cost, disability identity?

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802 and practically important to some. Clinicians should or parents who had no hesitation about Spinraza. 838

803 ask patients about this topic and their concerns, and Because of this, our study may not reflect perceptions 839

804 provide appropriate supports, counseling and refer- of the SMA community as a whole. Follow-up studies 840

805 rals to resources. are needed to extend this exploration into the broader 841

SMA community, including those who have no hesi-

tho
842

806 Limitations tation about treatment, and to follow the perspectives 843

of patients/parents over time and as experience with 844

807 There are several important limitations to this Spinraza increases. 845

808 study. Our participants were relatively homogenous We did not ask participants to weigh each fac- 846
Au
809 in race and ethnicity and we had a small sample size, tor influencing treatment decisions. Therefore, we do 847

810 although the sample is well-within empirically estab- not know how much each factor contributed to each 848

811 lished sample sizes for achieving data saturation in participant’s decision. We also did not ask partici- 849

812 qualitative research for this kind of thematic analysis pants specific questions about functional decline or 850

813 [25]. The experiences, values, and priorities of differ- disability identity, so our analysis is limited to those 851

ent types of SMA, as well as age cohorts have been participants who brought it up spontaneously in their
d

814 852

815 demonstrated to vary across SMA subtypes in other responses. 853

cte

816 studies [12, 13, 21, 22]. All participants were self-
817 selected, with a majority recruited from Facebook.
818 Therefore, there may be response bias from those CONCLUSION 854

819 who utilize social media. However, several studies

820 have documented that using social media to recruit This study sought to characterize the perspec- 855
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821 participants for research from rare disease or hard- tives of adults with SMA and parents of children 856

822 to-reach populations can be as, if not more, effective diagnosed with SMA who are ambivalent about, 857

823 than traditional methods, and leverage documented or do not want to pursue, Spinraza treatment. In 858

824 ways in which patients and families currently inter- our study population, the decisions about Spinraza 859
co

825 act and gather disease-based information [26–29]. We treatment were based on many factors including: 860

826 had few participants/parents with SMA Type I and logistics of treatment (cost, time), perceived short 861

827 did not have any participants with SMA Type IV. We and long term benefit and risk, disability iden- 862

828 also did not interview any adolescents about Spinraza, tity, and quality of life (both current and potential 863
Un

829 whose perspectives may not have aligned with adults future). Some prioritized the short-term challenges of 864

830 or parents of children with SMA. Because we only obtaining treatment whereas others believed that the 865

831 interviewed participants in the US, we cannot com- long-term functional improvements outweighed any 866

832 ment on the views of participants in other countries, barriers. Many (n = 9) were undecided about Spin- 867

833 or the relevance of these findings to other countries raza and/or interested in a more easily accessible 868

834 or health care systems. drug that they hope might be available in the future. 869

835 This study was focused on exploring the perspec- These findings highlight the need for better informa- 870

836 tives of those who were unsure about, or who did tion dissemination and improved discussion between 871

837 not want Spinraza. We did not recruit individuals patients/families and clinicians about the values 872
 12 M. Pacione et al. / Perspectives on Spinraza Treatment

873 and priorities, maximizing informed and shared SUPPLEMENTARY MATERIAL 914

874 decision-making.
875 Additional research is needed to validate and The supplementary material is available in the 915

876 extend these results across the SMA community, electronic version of this article: http://dx.doi.org/ 916

877 especially as Spinraza becomes more widely used 10.3233/JND-180330. 917

878 and available, as well as if other drugs for SMA are

879 approved. Future studies may include larger sample
880 sizes that include more diversity in demographics, REFERENCES 918

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