Germany

Denmark

Belgium

Italy

Turkey

United Kingdom

Finland

Switzerland

France

Ukraine

Spain

Poland

Greece

Czech Republic

Iceland

Hungary

Ireland

Portugal

Romania

Russia

Republic of Serbia

Sweden

North Macedonia

Estonia

Croatia

Latvia

Lithuania

Luxembourg

Norway

Austria

Netherlands

Slovakia

Slovenia

Adult care benchmarking

Dana and the many facets of access to medicines

Dana

Dana is a dreamer, or rather, as she puts it, an idealist. In the next year, she would like to move out of her parents&rsquo; house. Her mom would help her in the mornings, and she would hire a personal assistant for the afternoon, with her own money, earned on her job as copywriter. She would then sleep alone, with an assistance dog to help her roll over in bed at night. The thought is scary, but Dana feels ready to take responsibility of her own life. 
Dana has always had plenty of plans for herself, but recently her outlook on the future has changed. One year ago, at the age of 27, she received her official diagnosis of SMA. Soon after, she was approved for treatment through SMA medicines.

Dana has always been very busy, too busy to let her disease slow her down. In her hometown in Romania, she was the first person with a disability to join the Erasmus programme in Spain. Top of her class, she won scholarships and graduated in economics. Dana likes to hang out with her friends, chat about what is new in their lives and in hers. She reads self-help essays and novels about love or World War II. She loves to travel, domestically and internationally, she visits restaurants and movie theatres, and just lives her life fully.

At 9 months old, Dana had been diagnosed with Werdnig-Hoffman syndrome, an old classification for SMA. Doctors warned her mother that nothing could be done for her, and she would not live past her fourth year of life. Thankfully, Dana disproved the doctors and survived this prognosis, and the family went on with their life. In her town, however, it was not easy to receive specialist care. During her numerous childhood hospitalisations for pneumonia, a neurologist would sometimes check in, but no care team was in place, except for physical therapists. Sure that not much else could be done for her, Dana invested her energies elsewhere.
Soon, going to physiotherapy appointments became tiresome and time consuming. The physiotherapy centre was far, and Dana and her mom travelled by public transport for a long time until her mom earned her drivers&rsquo; license. Home visits were unaffordable. At some point, Dana felt like she had to choose between physical therapy and school. She prioritized studying, as building a career and financial independency was a priority for her.

1
00:00:00,800 --> 00:00:01,572
 The years

2
00:00:03,305 --> 00:00:04,545
 went fast.

3
00:00:04,545 --> 00:00:06,485
 I started to lose

4
00:00:07,145 --> 00:00:08,257
 my strength.

5
00:00:09,601 --> 00:00:11,529
 I have never been able

6
00:00:11,617 --> 00:00:13,465
 to walk, but

7
00:00:13,505 --> 00:00:15,257
 I used my hands pretty

8
00:00:15,321 --> 00:00:15,977
 well.

9
00:00:16,161 --> 00:00:17,689
 And, in time,

10
00:00:17,817 --> 00:00:18,845
I lost that

11
00:00:19,865 --> 00:00:20,965
 superpower.

12
00:00:21,505 --> 00:00:23,017
 This is what I really want

13
00:00:23,081 --> 00:00:24,633
 to gain back

14
00:00:24,689 --> 00:00:26,185
 by treatment.

The first time Dana heard about medicines for SMA, it was through an acquaintance made during an online Facebook group for small businesses. Dana first rejected the idea of starting treatment: she did not have time to waste with doctors and was scared of going to hospitals, mindful of her hospitalisations as a child. A few months later, she received an invite to attend a conference on rare disorders in Bucharest. Here, she heard a doctor presenting about SMA and recognised herself in his presentation. She also met a young woman with SMA and noticed they looked very similar. This made her feel less lonely.

1
00:00:00,640 --> 00:00:02,205
 I always thought that

2
00:00:02,625 --> 00:00:04,241
 I was kind of alone in

3
00:00:04,273 --> 00:00:04,845
 this.

4
00:00:05,185 --> 00:00:06,529
 I did not know anyone with

5
00:00:06,577 --> 00:00:08,485
 this disease before.

6
00:00:08,945 --> 00:00:10,801
 So for me, it was like,

7
00:00:10,953 --> 00:00:12,265
 maybe I am doing something

8
00:00:12,345 --> 00:00:14,057
 wrong, and that is why

9
00:00:14,121 --> 00:00:15,165
 I am losing

10
00:00:15,545 --> 00:00:16,285
 my

11
00:00:16,865 --> 00:00:18,765
 strength and

12
00:00:19,145 --> 00:00:20,593
 I cannot swallow that

13
00:00:20,649 --> 00:00:21,249
 well.

14
00:00:21,417 --> 00:00:22,729
 I did not know that it was

15
00:00:22,777 --> 00:00:24,065
 because of the disease.

16
00:00:24,225 --> 00:00:25,561
 And when I found out,

17
00:00:26,705 --> 00:00:27,545
 I wanted to

18
00:00:27,585 --> 00:00:29,505
 change it, to see what

19
00:00:29,545 --> 00:00:30,465
 I can do,

20
00:00:30,465 --> 00:00:31,745
 to try anything.

Dana decided it was time to act. She soon received an official diagnosis of SMA through genetic testing and started treatment through medicines within one month. At first, her parents were hesitant for her to try medicines that had just recently been approved. But, for the first time in her life, Dana felt like she was taking her life in her own hands. Medicines for SMA are available and reimbursed in Romania, but Dana had fallen into a combination of lack of information, diagnostic uncertainty, and daily life. Looking back, she regrets waiting this long.

1
00:00:00,320 --> 00:00:01,817
 When I think about it now,

2
00:00:01,921 --> 00:00:03,785
 it is strange that

3
00:00:03,825 --> 00:00:04,497
 I did not see

4
00:00:04,809 --> 00:00:06,521
 that from writing

5
00:00:06,633 --> 00:00:08,005
 everything myself,

6
00:00:08,505 --> 00:00:10,001
 I got to

7
00:00:10,193 --> 00:00:12,041
 only signing my

8
00:00:12,193 --> 00:00:12,553
 name.

9
00:00:12,609 --> 00:00:14,465
 And not even my name, but

10
00:00:14,505 --> 00:00:15,881
 only my initials.

11
00:00:16,033 --> 00:00:16,985
 And it was hard.

Last month, Dana achieved something of which she is very proud. On a friend&rsquo;s birthday, she was able to handwrite a &ldquo;happy birthday&rdquo; note for him. This was not without effort, but it was a big success. Maintaining hand function is important to her not only for writing, but also to retain her independence, as her hands allows her to drive her power wheelchair, for example.
Dana&rsquo;s big dreams continue. She wants to launch an inclusive marketing agency staffed with people who are underrepresented in the workplace. Recently, she has also started volunteering for children living with SMA in Romania, in particular to facilitate their access to assistive devices, difficult to access in her country. Despite living with SMA her whole life, her journey in the SMA community and towards SMA care has only begun, and great prospects lay ahead.
&nbsp;
Interview conducted on 4 November 2024.

Access is greater than access to medicine: it is also access to accurate information, well-informed care providers, and a patient community with shared experiences.

Meet Dana

present copy.jpg

Clara and the importance of early diagnosis

Clara

When pregnant with Clara, Carla could barely feel her kicks. As a newborn, Clara was quiet, moved little, and struggled with tummy time. Their paediatrician dismissed any concerns. First-time parents Carla and her husband had little experience with newborns and lived far from family. But in the spring of 2021, when Clara was two months old, COVID-19 travel restrictions in Spain eased and they were able to visit their relatives. Clara and her little cousin were born weeks apart, but the difference between them was striking. The boy was constantly moving and, in Carla&rsquo;s words, Clara looked &ldquo;like a doll&rdquo; in comparison. 
Carla consulted two general paediatricians who reassured her that nothing was the matter. Frustrated, she visited a physiotherapist to help Clara&rsquo;s motor development. Mere minutes into the consultation, it became apparent to the physiotherapist that Clara needed to see a neurologist immediately. 
<div class="highlight-box-sky">
"We were lucky to find a physiotherapist who was very young, but capable. Surely it was the first time that she saw a baby with SMA in her life, but it took her three minutes to understand".
</div>

<div class="column-count-2">
The next month went by in a heartbeat. The neurologist diagnosed SMA via myogram, soon confirmed by genetic testing. The doctors walked Clara&rsquo;s parents through the possible therapies. In fact, there was no choice to be made: only one of the three EMA-approved SMA medicines was available in Spain at that time. For other options, Clara&rsquo;s parents would have had to apply for compassionate use programs, but a newborn with SMA had recently passed away, in Spain, while waiting for an answer. There was no time to lose. Four-months-old Clara received her first medicine&nbsp;only weeks after receiving the diagnosis. In Spain, many other babies with SMA are not as lucky. They face much longer waits that delay diagnosis and access to treatment. These processes are in desperate need to be expedited, so that treatment can begin as soon as possible. 
With treatment, things started to improve. Clara was sitting at 12 months, standing with support at 20 months, and walking with support at 24 months. At two and a half, she started standing by herself for a few seconds. 
Despite seeing good results with the treatment, Carla still sought peace of mind. The medicine that Clara was on required regular administrations and recent events had Carla reflect on how the unpredictability of life may affect her child.
</div>

"After what happened with COVID, look what happened in Ukraine. If in two years we are in World War III, who would give my child medicine? What would happen to her?"

A few months after Clara had started treatment, Spain had finally approved the one-shot therapy, advertised as having lifelong efficacy. Approval for access, however, was heavily restricted, far beyond EMA label recommendations. Only babies diagnosed with SMA type 1 and below 9 months of age were included, against the European approval under 2 years and with a clinical diagnosis of SMA type I or up to 3 SMN2 copies. Clara, only 8 months old at the time, was excluded on the grounds of having received a different treatment before.
These restrictive criteria withstand to date, and switching or combining SMA medicines is prohibited in Spain. But Carla still felt that she had to do more. She was anguished by the possibility of losing access to the medicine that Clara was receiving and that she would have to receive her whole life. In Spain, there were precedents of patients losing access to ongoing therapy when not performing sufficiently on outcomes measures. Similarly, a simple cold could turn into pneumonia and lead to a tracheostomy, which would exclude an already weak child from medicines.
<div>&nbsp;</div>

"I depend on an administration that needs to be willing to continue give my child the medicine. As a patient, you feel very helpless. The stress that is caused to families by having to meet the expected outcome measures, that your child must be well and cannot get worse because they can take the medicine away."

So, Carla had not given up on seeking treatment options. She found and applied for a clinical trial for Clara to receive the &ldquo;one-shot&rdquo; medicine with long-lasting effects. Clara successfully received the drug shortly thereafter and her motor skills continue to progress.
But even after this treatment, Carla is unsure whether her search for medicines will stop. The thought of forever relying on the experimental medicine is perplexing to her because evidence of long-term efficacy is still unavailable. Even if this were allowed in Spain, going back to the previous treatment or initiating a different medicine after the one-shot would also have uncertain outcomes, since data on risks and benefits of combining therapies are only now being tested. 
The lack of solid scientific evidence amplifies uncertainty and feeds into access restrictions.

<blockquote>
<div class="highlight-box-sky">
Instead of depending on medical criteria and on the choice of the family, right now we depend on protocols that do not give final answers and are not clear, in many cases.
</div>
</blockquote>
Access decisions often fall upon administrative authorities, who operate amidst a lack of solid scientific evidence for best practices in switching or combining medicines. This means that decisions tend to be conservative, depend on individual bureaucrats or on doctors and families&rsquo; willingness to put on a fight and ask for extraordinary measures to be approved. 
Today, Clara walks a few steps but cannot talk. Carla&rsquo;s quest is not over. Still, she feels lucky. If it were not for the young physiotherapist, in the absence of nation-wide newborn screening, Clara&rsquo;s life would be very different today. Indeed, early diagnosis should not be a fortunate coincidence. 
 Interview conducted on 9 May 2024.

&nbsp;
Newborn screening and early treatment are crucial to improve health outcomes in SMA.

Meet Clara

image3.jpeg

Real-life stories

Hanneke and the arbitrariness of SMA types.

Hanneke

Hanneke likes sports, singing in a choir, and going camping. Her biggest passion is sailing, which she does on her own boat, for fun, but also competitively. She loves seeing her friends, but time is always too short: as she says, living with disabilities can be a job in and of itself. First trained as a building engineer, Hanneke got interested in medical research and is now about to complete her PhD in epidemiology.
Forty-eight years old, Hanneke, who lives in the Netherlands, was diagnosed with SMA as a toddler. She was able to walk short distances until the age of 10, and to stand until 13, when she had surgery to correct her scoliosis. Today, Hanneke uses a powered wheelchair, equipped with arm rests that efficiently help her move her hands. However, she does not have access to any of the available medicines for SMA.

<div class="column-count-2">
Her spinal surgery left no access to the spinal cord in the lumbar area, excluding the option of intrathecal injections. Being over 25 years old, Hanneke cannot receive reimbursement for the oral administration medicine based on the current policy in her country. Some adult patients with spinal issues receive the drug based on a compassionate use program, but this access is limited to patients diagnosed as Type 1 and 2. Since she was once a walker, Hanneke falls under the category of type 3A and is effectively excluded from access to medicines. This is a deep source of frustration:
</div>

1
00:00:00,240 --> 00:00:01,502
If you put me
 
2
00:00:01,646 --> 00:00:02,582
in a line up with other
 
3
00:00:02,646 --> 00:00:04,850
SMA 2Bs and
 
4
00:00:05,190 --> 00:00:07,422
other 3As, you
 
5
00:00:07,446 --> 00:00:08,422
cannot make out the
 
6
00:00:08,446 --> 00:00:08,806
difference.
 
7
00:00:08,878 --> 00:00:10,222
It is totally understandable that
 
8
00:00:10,246 --> 00:00:11,742
we have these criteria,
 
9
00:00:11,806 --> 00:00:13,046
but they
 
10
00:00:13,046 --> 00:00:14,462
are not functional anymore.
 
11
00:00:14,646 --> 00:00:15,582
We by now know
 
12
00:00:15,606 --> 00:00:16,390
it is really arbitrary.

Today, SMA type classification is falling out of favour. Based on motor milestones achieved in childhood, it is a poor predictor of outcomes in adult age. SMA is therefore better represented as a spectrum. Yet, disproven SMA types at an older age are still used as criteria for treatment access or reimbursement.
Falling at this intersection of multiple exclusion criteria is Hanneke. Hanneke, who is a very pragmatic person and understands that it might not always be possible for governments to reimburse such expensive drugs for everyone. She tries not to let her lack of access to medicines influence her life too much and she is happy that at least others can receive the drugs. Still, it is not always easy to face gradual function loss.

1
00:00:00,440 --> 00:00:02,142
I do find it hard
 
2
00:00:02,246 --> 00:00:04,254
when I have issues
 
 
3
00:00:05,902 --> 00:00:07,326
where I find deterioration.
 
4
00:00:07,438 --> 00:00:09,166
It is not a very straight
 
5
00:00:09,318 --> 00:00:10,910
and very clear process,
 
6
00:00:12,782 --> 00:00:14,246
but in the end, you find things that
 
8
00:00:14,278 --> 00:00:15,286
you could do two or three years ago
 
9
00:00:17,214 --> 00:00:18,814
and that you cannot do now,
 
12
00:00:18,862 --> 00:00:20,622
or you can do it with difficulty,
 
13
00:00:20,646 --> 00:00:21,414
or you know you are going
 
14
00:00:21,422 --> 00:00:22,230
to lose it.
 
15
00:00:22,310 --> 00:00:24,070
Or you find sometimes you
 
16
00:00:24,110 --> 00:00:25,686
have a muscle that you can
 
17
00:00:25,838 --> 00:00:27,798
feel that is giving up and
 
18
00:00:27,814 --> 00:00:29,094
then you think, oh, if that
 
19
00:00:29,142 --> 00:00:30,486
gives up, what can I not
 
20
00:00:30,518 --> 00:00:30,590
do?

Still, Hanneke is not the type to feel sorry for herself and has a remarkable ability to think beyond. To her, the real problem are not individual access decisions, but rather, the whole system of drug development and commercialization. Especially in rare disease, drug prices are exorbitant and strain governments, who in turn have to enforce access restrictions. Patients are caught between a rock and a hard place. They need access to live or live better, but the system instrumentalises and capitalises on their condition. To Hanneke, this is just not sustainable:

1
00:00:00,240 --> 00:00:01,918
My call for action would be
 
2
00:00:02,054 --> 00:00:03,686
for pharmaceuticals and
 
3
00:00:03,718 --> 00:00:04,798
the government to find a
 
4
00:00:04,814 --> 00:00:06,462
way to fix the system,
 
5
00:00:06,646 --> 00:00:07,942
because we do not need to
 
6
00:00:07,966 --> 00:00:09,270
fix it for SMA only,
 
7
00:00:09,350 --> 00:00:11,086
and not only for neuromuscular
 
8
00:00:11,158 --> 00:00:12,010
disorders.
 
9
00:00:12,470 --> 00:00:17,646
We have 5 - 10,000
 
 
10
00:00:17,718 --> 00:00:18,910
rare diseases that need
 
11
00:00:18,950 --> 00:00:19,730
fixing,
 
12
00:00:20,230 --> 00:00:22,158
and this way, it will not
 
13
00:00:22,174 --> 00:00:22,550
be feasible.

To Hanneke, SMA is a privileged case where medicines are available and, increasingly, accessible to most. But much work is still to be done, and systemic change is necessary. As an epidemiologist, Hanneke sets a curious look onto the new and future landscape of SMA as the recent medical advances transform the community and change lives with SMA, hoping that further improvements come soon.
 Interview conducted on 24 April 2024. This story was published on 16 July 2024. In May 2024, an agreement that will change access to SMA medicines in the Netherlands was reached. At present, the details of this agreement are currently being worked on. People living with SMA are waiting for the decision to come into effect, with the potential to finally change the access landscape to the better.

SMA is a spectrum disease. SMA types are an unreliable predictor for individual disease progression. No one should be excluded from treatment based on SMA type categorisation.&nbsp;

Meet Hanneke

Hanneke portrait.jpg

Stefan and the need for patient-relevant outcome measures

Stefan

When Stefan gained access to SMA medicines, his life changed. Growing up, he made a point of never allowing his disease to define him. Still, starting treatment motivated him to think about the future.

1
00:00:00,280 --> 00:00:01,878
 I always pictured myself ending on

2
00:00:01,894 --> 00:00:03,790
 a ventilator without able to move

3
00:00:03,830 --> 00:00:04,318
 my hands.

4
00:00:04,374 --> 00:00:07,236
 But when the treatment started, 

5
00:00:07,238 --> 00:00:09,250
I started noticing that I was

6
00:00:09,270 --> 00:00:10,050
becoming stable.

7
00:00:10,870 --> 00:00:12,478
 And that would mean that I

8
00:00:12,494 --> 00:00:13,742
 could do my job like I am

9
00:00:13,766 --> 00:00:15,206
 doing right now for maybe the

10
00:00:15,238 --> 00:00:16,310
 next 10 or 20 years.

With this new mindset, Stefan could build the future of his web developer business and decided to get involved in patient advocacy to ensure that everyone living with SMA, like him, would have that opportunity.
It soon became clear to him that access to medicines, care, and medical equipment is highly inequitable throughout Europe. Even in his home country, the Netherlands, obstacles to access still prevent some people living with SMA from freely accessing the care that they want for themselves. For this reason, he joined Spierziekten Netherlands, the Dutch Neuromuscular Patient Association, in its efforts to expand access to medicines for all living with SMA.

<div class="column-count-2">
The landscape of medicine access in the Netherlands is complex. One of the drugs is currently reimbursed for all people living with SMA on a conditional reimbursement program. When this medicine was first approved, clinical evidence of its efficacy on adults was not available. The government and manufacturer reached an agreement to make the medicine available for patients of all ages on a temporary basis, while collecting data from Dutch patients who are receiving the treatment. The temporary program will be reassessed based on this evidence. So far, the SMA clinical centre that collects the data is optimistic about the continuation of this program. Yet, for patients like Stefan, things can feel uncertain. Stefan, for instance, feels that current clinical assessments fail to capture the sizeable benefits that he experiences from treatment.
</div>

1
00:00:00,160 --> 00:00:02,130
 It is pretty demoralising because:

2
00:00:03,030 --> 00:00:04,286
 can you roll on your back, or

3
00:00:04,318 --> 00:00:05,510
 put your knees to your chest,

4
00:00:05,515 --> 00:00:06,814
 or lift your head?

5
00:00:06,862 --> 00:00:08,806
 These are

6
00:00:08,838 --> 00:00:09,990
 things that I cannot do,

7
00:00:10,030 --> 00:00:11,606
 but I do feel that the medicine

8
00:00:11,638 --> 00:00:11,710
is working!

While access and reimbursement of this drug are still temporary, a second medicine was approved by the Dutch government. This medicine, however, is only reimbursed for adults up to 25 years of age. This decision was based on available evidence from clinical trials, which only included patients up to this age. No clear clinical concerns nor evidence exists that patients above 25 would respond to the treatment any differently, but the manufacturer was unable to provide data for efficacy above this age cut-off. In addition, despite the government&rsquo;s efforts, negotiations with the manufacturer regarding the high pricing of the drug were unfruitful, and an agreement on price was not reached. Under these circumstances, the Dutch government is resistant to reimburse this drug for the older age groups, based on having an alternative treatment available.

<div class="column-count-2">
Other than preventing adult patients from selecting their preferred medicine, this state of things also actively affects a sizeable group of people living with SMA who are over 25 years old but cannot receive the first medicine due to specific clinical conditions and the first medicine&rsquo;s mode of administration. These patients are left with no access at all. This feels particularly cruel in a world where stabilizing treatments for SMA exist, and in a country that offers access to medicines to all other people living with SMA.
&nbsp;
</div>

Spierziekten Netherlands is actively promoting new negotiations between the government and manufacturer. Yet, results from these conversations are hard and slow to yield. Currently, the Netherlands is in the process of forming a government after national elections, which may further delay decisions. Even if new evidence of efficacy was submitted promptly, the government&rsquo;s review may take months or years. This is time that adults living with SMA who are currently excluded from treatment just do not have.
Patients are caught in the middle of political processes, market dynamics, and regulatory affairs that hinder their opportunities for access and, ultimately, their ability to live and even imagine the future. Stefan thinks keeping patients at the centre of all processes, starting from drug development, is vital to ultimately ensure access.

1
00:00:00,360 --> 00:00:01,526
 Think about the whole population

2
00:00:01,598 --> 00:00:02,890
 when you design a trial,

3
00:00:03,670 --> 00:00:05,502
 because not tested,

4
00:00:05,526 --> 00:00:05,990
 means no access.

Stefan and Spierziekten Netherlands continue to lobby manufacturers and the government to come to an agreement, so no person living with SMA in the Netherlands is left behind.
&nbsp;
Interview conducted on 25 March 2024. This story was published on 15 July 2024. In May 2024, an agreement that will change access to SMA medicines in the Netherlands was reached. At present, the details of this agreement are currently being worked on. People living with SMA are waiting for the decision to come into effect, with the potential to finally change the access landscape to the better.
&nbsp;

Better outcome measures are needed to ensure that meaningful change can be measured in people living across the SMA spectrum.

Meet Stefan

Stefan_sea.jpg

Jana and the uncertainties of access to SMA medicines in Bulgaria

Jana

Her smile bright, her enthusiasm contagious, Jana is a 33-year-old patient advocate from Bulgaria who lives with SMA.
The daughter of medical doctors, Jana was raised aware of her condition and of the possibility of gradually losing her abilities. This motivated her.
At 15 years old, she became involved in patient advocacy, first locally, then at the European level.&nbsp;Today, with her extensive experience and vast knowledge, Jana sits on many prominent advocacy positions in SMA, neuromuscular disease, and beyond.
When she first started her advocacy journey, Jana could never have imagined reaching the point of achieving medicines for SMA.

1
00:00:00,000 --> 00:00:01,480
At one point, all

2
00:00:01,504 --> 00:00:02,702
these clinical trials

3
00:00:02,726 --> 00:00:04,321
started to really

4
00:00:04,345 --> 00:00:05,500
provide results!

5
00:00:05,500 --> 00:00:07,190
The SMA community

6
00:00:07,214 --> 00:00:09,305
became more visible,

7
00:00:09,329 --> 00:00:09,939
stronger,

8
00:00:09,963 --> 00:00:11,195
and more united.

9
00:00:15,240 --> 00:00:15,889
And at the same

10
00:00:15,913 --> 00:00:16,984
time, I wanted to

13
00:00:17,008 --> 00:00:17,671
pinch myself

14
00:00:17,695 --> 00:00:18,752
several times, just

15
00:00:18,776 --> 00:00:19,784
to make sure that

16
00:00:19,808 --> 00:00:20,696
this is really

17
00:00:20,720 --> 00:00:21,513
happening, and

18
00:00:21,537 --> 00:00:22,640
I'm not dreaming!


In Bulgaria, patient advocates began fighting for SMA medicines early on. Local families living with SMA formed lobby groups, met with politicians and national regulators, and pushed hard on the local government with the support of leading medical experts. A first medicine was made available for children in 2019. Then, in 2022, two of the three available SMA medicines became available to adults as well. The medicines are reimbursed through the National Health Insurance Fund, coming at no cost to individual patients.&nbsp;
Access to medicines, however, is more complicated in practice than in theory. A national commission approves a total number of patients who are to receive each medicine, making access difficult for any new person seeking medicines, or anyone wanting to switch between medicines. New patients with more severe disease presentation are prioritized over milder cases. Treatment decision-making is shared between patients and clinicians, but a national commission has the final say on medicine approval. This approval, however, is only valid for six months, meaning that those who receive the medicine must resubmit updated lab and clinical assessments proving continued eligibility twice a year.&nbsp;

In practice, this proves complex. Bulgaria only has two qualified medical centres who can run the assessments and administer the medication, both located near the capital Sofia. People living with SMA who do not live in the capital have to travel there often for their care, with financial and practical difficulties. Applications for reapproval cannot be submitted before the last dose of medicine has been consumed. Collecting all the documentation takes time, and the labs&rsquo; validity may expire before the request is even evaluated. Once the reapplication is received, it can take around two months to receive approval from the national commission. Then, the National Health Insurance Fund must officially notify local pharmacies before they can hand over the medicine. This means that people living with SMA who are already receiving medicines may have to wait weeks to continue their therapy, while all the bureaucracy is settled.&nbsp;

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People don't really

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realise what this

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costs to the mental

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health.

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All these tests

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every six months,

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and the fear that you

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might not be approved.

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We are still in a very

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delicate situation

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where we don't

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feel fully supported,

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as patients, that we are

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going to receive this

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treatment, no matter

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the circumstances.

All in all, Jana and her fellow patient advocates still have much to fight for, despite their success in achieving access and reimbursement for SMA medicines for all in Bulgaria. Their next goals are to raise awareness about SMA and available medicines. In adults leaving with SMA, many of whom are still wary of initiating treatment through medicines because they lack solid information in their native language. In local clinicians, to improve time-to-diagnosis and the delivery of state-of-art information about treatments. In the local government, to address pending needs including those for medical equipment that can improve quality of life. And, finally, in the society, to make sure that people living with SMA have equal opportunities for work, schooling, and full participation in social life.
 Interview conducted on 4 March 2024

Maintaining access to SMA medicine is a challenge, not only achieving it.&nbsp;

Meet Jana

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Julia and traveling to access SMA medicines amidst medical uncertainty

Julia

Ten days after her birth, Julia was diagnosed with SMA through newborn screening in Poland. The diagnosis came abruptly and unexpectedly. A pre-conception screening in her parents had found no genetic conditions: little did they know that SMA is rarely tested for in these screenings. The diagnosis was communicated to her mother Barbara via phone, with little empathy, leaving her with many questions and no answers.&nbsp;
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"It was the end of our 'na&iuml;ve parenting' era, where you worry about the amount of sweets that your kids have, the amount of quality time you spend with them. We now had to explore dealing with a very difficult genetic condition".
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But Barbara and her husband Adam are solution oriented. They started researching SMA and existing medicines. Julia showed no symptoms and was found to carry four copies of the SMN2 gene. At the time, there was no consensus on whether and how to treat this patient profile with medicines. Barbara and Adam read every paper published on the subject and reached out to top-tier authors around the world for advice. Still, they received contrasting recommendations. Some advised against starting treatment in a baby who presented no symptoms. Others suggested beginning treatment through medicines immediately since motor neuron loss is considered irreversible. The idea to wait and see did not sit well with Barbara and Adam. They set their mind on one of the medicines as the best fit for Julia and their family and started another journey: access.
In Poland, this medication was not reimbursed at the time. Barbara and Adam contacted a leading centre for SMA care in a European country, where this medicine had recently been approved for reimbursement. In bitter irony, newborn screening was, and still is, very inconsistently run in this country. Here, pre-symptomatic patients like Julia, who are eligible and would have access to medicines, can remain unidentified if unscreened, and this depends merely on their birthplace. This also meant that local specialists had rarely encountered similar cases before and were initially reticent to initiate treatment with the medicine in the absence of symptoms.
Still, amid this uncertainty, the doctors felt like Barbara and Adam should be an active part of the decision making.
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"All the drugs are new and no one can guarantee anything. The doctors felt that it's the right thing to do to include parents and families in the decision-making process, and that's what I'm grateful for. At the end of the day, all consequences and responsibilities are ours."

Julia finally started her treatment through medicines when she was three and a half months old. Shortly later, the medicine was approved in Poland as a second-line treatment reimbursed to patients who were already receiving the drug through clinical trials or other circumstances. The family moved back to Poland, where Julia is now continuing treatment and her happy life as a toddler. Julia reached motor development milestones without delay: sitting at the age of 9 months and walking without assistance at the age of 18 months. She is one of the &ldquo;invisible patients&rdquo; who despite diagnosis develop (almost) like healthy children. The future is unknown, but Barbara and Adam are optimistic.
However, it is clear to them that moving countries to seek a preferred treatment course is certainly not something that anyone can do.

"It's very much related to the amount of resources you have. We are lucky because we were in a position to do that, in terms of language, in terms of contacts. But the majority of families have to solve the problem using the resources they have in the place where they are anchored."

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Now we're back to mainstream parenting. Thinking about sweets and the Montessori toys because we have done what we could. We think, based on the information we had, we selected the best opportunity for our child, and we are at peace.
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With their experience living abroad, English fluency, and educational background allowing them to understand research evidence, Barbara and Adam were in the privileged position to actively seek their chosen solution in ways that others would not have been able to. This is why they continue to fight for the right of all SMA patients in Poland to access the medicine of their choice. Learning about the different medicines to make an informed choice is vital because ultimately, people living with SMA face all the consequences and responsibilities for this choice.
 To protect contributors&rsquo; privacy, the names used here are pseudonyms. Interview conducted on 8 March 2024.

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No one should have to move across Europe to have access to SMA medicines.

Meet Julia

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Nataliia and access to SMA medicines as an adult living with SMA

Nataliia

Nataliia brightens up when talking about how being on treatment with SMA medicines has changed her life. A 34-year-old English teacher from Ukraine, Nataliia is finally receiving treatment in the Czech Republic, where she recently resettled as a refugee.
Natalia was diagnosed with SMA when she was one, shortly before her older brother passed away from SMA at the age of 8. Growing up with SMA in Ukraine was challenging. The infrastructure was poor and people were unprepared. Schools would not take her in because of her disability and Nataliia&rsquo;s teachers had to visit her at home. But as an adult, Nataliia leads a rather independent life. In Kyiv, she studied at university, worked, and comfortably moved around her neighbourhood in her power wheelchair. Because round-the-clock personal assistance is not fully reimbursed in Ukraine, Nataliia lived with her parents, but her friends drove her around for outings. Still, since medicines for SMA were first approved, she had dreamed of receiving one. Unfortunately, this is still a rare opportunity for adults living with SMA in Ukraine.

When the war broke out, beloved Kyiv became a dangerous place. Nataliia and her parents first fled to a nearby village, but the winter was scary and difficult under the bombing, without water or electricity. It was not possible to cook a meal, let alone for Nataliia to leave the house or be comfortable in a non-adapted environment. It was hard to receive medical care, and Nataliia was worried that if something serious happened, she would not find help. So, she and her parents made the difficult decision to leave as refugees.
Starting from scratch was hard, but with the help of local SMA Europe patient advocates, Nataliia and her family settled in a small Czech village. She now works online and financially supports her retired parents. Nataliia still travels back to Ukraine to see her specialists, but much to her joy, she was approved for one of the recently developed medicines for SMA in the Czech Republic:

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In Ukraine, before the

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war,

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receiving medicines

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was like a dream.

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It was like a goal,

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but more like a dream.

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Because it was very

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difficult,

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especially for

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adults, it was almost

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impossible to get

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any kind of medicine for SMA.

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And here, when I

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got approved,

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I was so excited!

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It was amazing!

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So, I'm still happy about that.

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I felt some improvements

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very soon. And

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I still feel that I'm

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not getting worse.

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That's very important!


Being on treatment brought Nataliia hope at a dark intersection of her life. Just before the war tore Ukraine, she lost two friends who lived with SMA. One of them was a dear friend since childhood. As adults living with SMA in Ukraine, neither of Nataliia&rsquo;s friends had had the chance to begin treatment with SMA medicines. These losses, therefore, feel particularly painful. Frustration adds to this pain because stabilising treatments for SMA now exist, but access for all does not.
Receiving a medicine for SMA brought Nataliia some hope for herself, her life and health. Still, the future feels uncertain. The war is still raging in Ukraine, and, in the current situation, moving back would mean giving up on receiving SMA medicines until the local government approves and reimburses them for all adults.
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I feel like I

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have a chance.

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I have a

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chance to have

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a longer,

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happier life.


Nataliia&rsquo;s future is still clouded with uncertainty, so, achieving access feels bittersweet. Nataliia had never wanted to leave Ukraine. She misses her friends. She feels that her freedom of movement is very limited because of inaccessible infrastructure in the small Czech village, where there are not many opportunities for entertainment. And she feels great financial responsibility towards her family. Still, times are not ripe for her to move back, yet. She wants to go home, but she will do it when she is sure to have access to her SMA medicine in Ukraine. As she patiently waits, she has one dream for herself and fellow people living with SMA:

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I wish that

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everyone could

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get access to SMA medicines.

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Everyone.

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I feel that

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it's unfair that

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we have to rely

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not only on money,

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but

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on governments,

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insurances, or

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medical companies to receive treatment.

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It's unfair.

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I wish that

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everyone could get it.


Interview conducted on 24 February 2024

Adult age is still used as an exclusion criterion in SMA Europe member countries like Ireland, Finland, Sweden and the Netherlands.

Meet Nataliia

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Real-life Stories show how access to treatment and care impact the lives of real people living with SMA and their families. While stabilising treatment for SMA is available, European-wide access is not.
Meet community members and hear their voices to understand the impact that equitable and unconditional access would have on their lives.
OdySMA actively tracks and compares access data in Europe to propose actionable steps for access challenges and ensure that:
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No one is left behind
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Real people behind the data

Even in countries with good access policies in place, people living with SMA are facing hurdles to access treatment and care for SMA. We paused to listen to our people. The voices are loud and clear: access is still very complex in practice. Equitable access changes lives. We need it now, throughout Europe, for all people living with SMA.&rdquo;
Nicole Gusset, CEO of SMA Europe

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Email Laura

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OdySMA continuously and systematically collects and centralizes access data to map access to treatment and care throughout Europe.
To provide a human face to our data, we have called on our community members to share their stories about how accessing and not being able to access treatment and care impact their lives.&nbsp; Real-life stories offer real life portraits, created through participatory and collaborative storytelling with their protagonists. These stories illustrate the concrete impact of issues that are high on the community&rsquo;s priorities. These include the positive impact of early diagnosis through newborn screening, the practical hurdles people face even when they have already been approved for treatment, and grey areas and gaps in access that leave entire groups of people living with SMA without any access to treatment. The stories also shed light on new priorities in the community, such as the importance of being able to choose which treatment to undertake, or the way that the diagnosis is communicated to the family. Finally, we showcase successes and challenges in patient advocacy journeys in different European countries.&nbsp;
Real-life stories amplify the impact of OdySMA by providing insight into the real impact of access in people&rsquo;s lives.&nbsp;
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Do you want to share your story? Please get in touch with Laura Gumbert (<a href="mailto:laura.gumbert@sma-europe.eu" target="_blank" rel="noopener">laura.gumbert@sma-europe.eu</a>).
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