Background
Methods
Results
Study sample
Characteristics
|
Number (%)
|
---|---|
Individuals with SMA
| 21 |
Gender
| |
Male | 10 (48) |
Female | 11 (52) |
Age range (yrs.)
| |
8–11 | 4 (19) |
12–14 | 4 (19) |
15–17 | 6 (29) |
18–26+ | 7 (33) |
SMA type
| |
Type I | 1 ( 5) |
Type II | 8 (38) |
Type III | 12 (57) |
Currently ambulatory
| |
Yes | 8 (38) |
No | 13 (62) |
Form of participation
| |
Interview | 10 (48) |
Focus Group | 11 (52) |
Parents of individuals with SMA
| 64 |
Gender
| |
Male | 15 (23) |
Female | 49 (77) |
Age range of child with SMA (yrs)
| |
<1 year | 5 (8) |
1–2 years | 6(9) |
3–11 year | 30 (47) |
12–17 | 19 (30) |
18–25 | 5 (8) |
Mean age of diagnosis (yrs.)
| 2.05 |
SMA type
| |
Type I | 12 (19) |
Type II | 29 (45) |
Type III | 22 (34) |
Form of participation
| |
Interview | 21 (33) |
Focus group | 43 (67) |
Clinicians
| 11 |
Gender
| |
Male | 7 (64) |
Female | 4 (36) |
Care for multiple SMA types
| |
Yes | 10 |
No | 1 |
Years in practice (average, range)
| 20.7, 12 -28 |
Practice area/specialty
| |
Physical therapy (neurological conditions specialty) | 1 (9) |
Pediatric physical therapy | 2 (18) |
Pediatric neurology | 4 (36) |
Pediatric orthopedic surgeon | 1 (9) |
Pulmonology | 1 (9) |
Neurosurgery | 1 (9) |
Form of participation
| |
Interview | 7 (63) |
Focus group | 4 (36) |
Arriving at a diagnosis of SMA
Lack of awareness and knowledge about SMA
…the incidence of the disease is such that every pediatrician is on average going to have one chance to blow the diagnosis in their career and unfortunately many of them take advantage of that opportunity [3]
…we spent 3–4 years trying to find a diagnosis and we didn’t have any luck so we were jumping from doctor to doctor… the local doctors, they didn’t have a clue of what could be wrong so we basically were struggling to find somebody to help us understand the problem [11]
… So I had a child not long ago whose parents at 3 weeks of age thought that child…had a problem with one hand because he couldn’t bring it up to the mouth and when I unwrapped the baby…he essentially, he couldn’t move anything except barely get one hand to the mouth and the other side was below that threshold. I was amazed that they didn’t imagine anything would be wrong because this is the first time they had ever had a baby and that they thought that’s the way babies were. So I stunned them with the information that there actually was something terribly, terribly wrong. [3]
Distinguishing normal from abnormal development
The usual situation is just that there’s some fall off usually compared to either family members or peers in terms of motor function, and depending on whether its Type I, Type II, Type III, or whatever. It’s going to occur at different ages and as a consequence be demonstrated by age specific expectations. So the SMA1 kids maybe start seeming like they are gaining head control, but then they don’t fully gain it. Or they don’t develop the ability to roll over or whatever. [4]
….So after one month I brought it up to a pediatrician and my son was 9 pounds and 2 oz when he was born, so our doctor said ‘well you know he’s a bigger baby, it’s sometimes harder for bigger babies to lift their heads simply because they’re heavier. So let’s give it one more month because of that’s within the typical range development…[10]
… So we didn’t have the best feeling but we were first time parents, and that’s what we’ve been told. You know, you’re first time parents, listen to what everyone else has to say and it will all be in time ok, but it wasn’t. [37]
“He developed normally until about age ten or eleven, we noticed some differences but we were not concerned. We thought it was his unique body type and coordination.” [47]
The challenges of differential diagnosis
…the [local] neurologist…he didn’t actually understand exactly what was going on. His first impression or his only fear was that it could be muscular dystrophy. [11]
Delivering the diagnosis
“She (the neurologist) looked at our son and evaluated him for probably no more than 3 minutes or less, and then said ‘please sit down. I’m 99 % sure your child has this condition and it’s terminal.’ So probably being in the room all of five minutes, they told us that our happy smiling gurgling child was going to die, and then she said ‘there’s nothing we can do.’ So we sat there in shock.” [2]
“If you get the diagnosis of spinal muscular atrophy, it’s definitely a devastating kind of news for the family. Particularly either Type 1 or 2 that you have to really tell the family the nature of the disease, the outcome, and many times it’s definitely impacting suddenly their whole lives… initially they cannot imagine what they will face in terms of care for a child or the impact of the disease. Not just for the child, but for the family, too. I think it’s a difficult diagnosis.” [8]
Views on Newborn Screening (NBS)
Themes | Illustrative quotations | |
---|---|---|
Positive | Early access to care |
… it would be helpful because if you found right away if SMA was present, then I think that you can be more proactive and start with all the therapies and whatever kind of nutrition would be needed for whatever type that you have [9] |
Shorten time to diagnosis |
But some families they go to the doctor… their son, he’s not lifting his head ok we’ll give it another month, I think it’ll be okay give it another month, I guess I will do some testing, and sometimes their child has SMA type 1 and they don’t find out until they’re a year old. So I think that in those cases, in places that are not, that don’t have doctors that know about SMA, I think that it would be for raising awareness of SMA the screening, the newborn screening would be very beneficial. [10] | |
Prepare to care for a disabled child |
…. And also as a parent you’re preparing yourself both socially and psychologically to be ready for what’s to come ahead. [9] | |
Help first-time parents who may not know developmental milestones |
I think that’s a really wonderful idea because like I said the strongest thing for us was we were first time parents, we weren’t sure what was going on. …SMA is something we weren’t expecting and especially when the disease is so devastating, you know? It makes such a huge impact in your life, and the kid, not just a normal life but the mental health, physical, emotional, everything. [26] | |
Want information if it is available |
Well I’m always for access to more information in general; I think it should be an option, absolutely. [44] | |
Negative | Prematurely affect my relationship with my child |
…I don’t know that I would have wanted to know and look at everything like ‘Oh no is that a sign of SMA?’ [47] |
Better not know in cases with very mild symptoms. |
On the other hand I suspect there are people that have SMA that…they almost never find out or they’re so much older when they find out. They were better off not knowing…I’m not sure [7] | |
Cost-benefit of population wide screening for a rare disease |
I think that I understand the reasoning why there is not newborn screening for SMA simply because it only effects 1 in 6,000 so I can understand that it’s very expensive to do for 1 in 6,000 babies then 5, 999 would not have it but I think that if we had all the resources in the world then absolutely. [10] |
The psychosocial impact of SMA
“For me it’s been real, real depressing. It’s taken a whole toll on my family. It is—I have to be able to accommodate to his needs without making my other two kids feel left out.” [12]
Thematic areas | Illustrative quotations |
---|---|
Confronting premature death |
…we have a circle letter with 24 people and we know them all. So there’s constantly Type I’s dying in our circle and [my son] knows he has SMA so every now and then this will come up ….Jesus isn’t coming for me yet and I say no… [51] |
My fears are that my son’s going to die early. [47] | |
…who’s just horribly depressed …is on anti-depressant medicines because he and he thinks about dying and all of that. [5] | |
Difficult choices |
My husband and I chose not to do any invasive treatment with our daughter, that’s why she died so soon. She did have a g tube, a feeding tube. We did use a suction machine, we rarely used an oxygen tank. Other than that, nothing more, so she had a lot of trouble breathing and ultimately, that’s what took her life. But for us, it was quality over quantity. And I had heard from many other families who had Type 1 s, Type 2 s that have used trachs and things like that, and it just wasn’t something that we wanted for our child. So, we made those decisions because of that. [49] |
…they said, ‘Our options are palliative-type hospice care,’ which basically means turn off the machines, that’s the end, ‘or we can give him a trach.’ Our family decided that’s the route we were going to take. We gave him a trach. We gave him a gastric feeding tube. We really didn’t know his future. We knew it would be a journey. We knew that our lives would change forever. …Our house is like a miniature NICU. [43] | |
Heartbreak and fear with loss of functional abilities |
It’s frightening, and it’s so cruel because it declines and then you’ll plateau for a little while and every time you plateau, you start to feel like ok, maybe we can hang out here for just a while but the scary thing is you never know when the next decline is coming. So every day is just a fear of will today be the day and plus, every time he loses some ability or every time his respiratory health declines, we always wonder what else he has to lose. [30] |
…and sometimes it’s like oh screw it, I can’t do this anymore. You know, like the feeding myself. For a while, I’d bring blocks that I’d put under the table at a restaurant to raise the table up, things like that. And then it got to the point where I was struggling so much to eat, I’d choke more often and then having people feed me, I started to choke more often. You know, like oh crap, I got to give this up [31] | |
Coming to terms with lost expectations |
…you’re basically dying to all those expectations that you had had… my son was the thing that brought me such joy, you know, the person in my life that makes me feel happy, but then also looking at him reminded me of the disease is the thing in our life he says that makes us unhappy. So it was hard to balance, you know, still being a great mom and still encouraging and loving at the same time of grieving. So you know I gave myself time every day to be sad to try and do it away from my son. [10] |
Loss of sleep and stress |
He’s very dependent on me, and it’s driving me crazy…He won’t let his father or anybody else take him to the bathroom or change him or feed him or anything. That drives me crazy personally because I never get a break. [12] |
…You have to roll her over, we have to place her arms where they’re going to be when she falls asleep,” explains the mother of a Type 2 patient. “Her head, her legs exactly how she wants them, and then she sleeps for a while, she wakes up, calls, and you go in and roll her over and place everything again….(we have to move her) every hour to an hour-and-a-half. [14] | |
Social discomfiture & stigma |
…he needs to read “The Great Gatsby” over the summer so we were in this little bookstore. …He walks in and the man’s going ‘no, I don’t have it, oh, but get up, step up on this crate and get that book up there that might have something.’ He (son) can’t do that. But the person didn’t realize it, so I got up and got it, but we didn’t go into an explanation why I had to do it. And so that stuff, you know, you’re not going to grieve, but there’s a loss there. Can’t step up on stool to get something, and you feel a little awkward when you’re as able-bodied as you look, but yet something as simple as that you can’t do. [9] |
I mean it’s hard to go out with a disability; it’s hard to make friends with a disability. At least now that I’m not in a wheelchair I can kind of hide it, and it’s not as obvious… People treat you differently when you’re in a wheelchair. [19] | |
Limitations on social activities |
That was a lot, it was extremely overwhelming. Especially because I wanted to take her outside, I wanted to go on a walk; she was inside so much that it just wasn’t fair. It was difficult to move her because she would stop breathing, just to change her diaper she would stop breathing, so it was really hard. I think once or twice I had tried to take her out on my own; we lived in an apartment complex at that time that had a beautiful park. I wanted to take her walking and I tried and she had a blue spell, and I had to somehow carry (her) inside. Now she’s deadweight at this point and she was actually very, very long for her age so it was a lot to carry her and I would always carry a morphine syringe filled with morphine anywhere I went because she would just stop breathing. And just trying to do all that and manage the keys, just doing all that stuff all by myself. [49] |
I actually went to a festival over the weekend and I needed to use a handicapped bathroom, and the only handicapped accessible bathrooms in the whole entire place were for VIP. It’s like, ok, but I can’t use the stairs. They couldn’t get it through their heads that they need a handicap accessible bathroom for everyone…Even my friends will be like do you want to come to this party and it will be late at night, and I’m like, I already went out today, I’m too tired. [19] | |
Struggle to achieve independence |
… he’s 17 in two months, he goes off to college in two years, that’s my hope. I fear he’s going to have to have a parent at college just because there’s many things that he can’t do by himself. [47] |
…I’m already worried about finding a job right now without a wheel chair…[19] | |
Uncertainty & Helplessness |
The burden, I guess as parents, is just feeling helpless. Knowing that your child has a disease that there’s really not much you can do about, and the options you do have are very, very scary and very invasive. And no matter what, the disease will progress. I guess that was the initial burden, just knowing that this was going to happen and it was basically a train wreck that you had no control over. [49] |
…when you start this journey you really don’t think your child is going to live, and planning a funeral now for 13 years as well as you know saving for a college fund. So it’s a very bizarre mind trip that you’re going through. But when majority of cases with SMA are Type 1 and unfortunately so many children do die, but when you’re going along on this journey as a parent you don’t know what to plan for. We were in a tri-level home with a boy in a wheelchair and no bedroom on the downstairs level, no bathroom, we didn’t know if he was going to live though. If he wasn’t going to live do we move or do we not, you know. It wasn’t until he was 6 we moved to a single story home. You don’t know how to plan. [2] | |
Pressure on Family Finances |
…At the beginning I took maternity leave, but I got some sort of compensation for that, but at the end, no. I was very fortunate I have an employer that was extremely flexible and understanding. Not everybody’s like that, and I can imagine that some people would lose their job, or their position or something would happen. I can’t imagine, especially with a sick child. [49] |
SMA children are not cognitively delayed, they’re just physically fragile. So that really leaves a gap in care, because most funding sources require children to be both cognitively and physically disabled. That’s not the case with a neuromuscular disease. Even though they need a lot of care, they’re not cognitively delayed. So that means that this population is under, they’re lacking a safety net. … [state] does not support SMA families at all. And that’s a real problem. Because without their support, the families are left to struggle, to leave their job to take care of their child. [33] |
Again it depends on the level of severity of the disease, so in the more mildly affected the impact can be fairly minimal. The oldest patient I have was 84 when she walked into my office. The impact on that family was almost non-existent. For SMA1 families the impact is really quite profound. [4]