The study population included 19 parents who had a child with achondroplasia and 5 adults with this condition. The parents were predominantly female; white; had college or post-graduate education; and worked fulltime (Table 1). None of the parents had this condition themselves. All respondents in the parent cohort had only one child with achondroplasia. Their children ranged in age from 1-13 years; 10 were 5-12 years old. Ten of their children were male.
The five adults with achondroplasia ranged in age from 27 to 67 years; 3 were female; and all were white. Four had a college education or more, and three were employed (Table 1). Three of these adult participants had a child (or children) and/or a spouse with achondroplasia. Four mentioned that their parents were of average stature.
What Shapes Treatment Goals
Participants emphasized two goals for treatment: 1) ameliorating or preventing complications; and 2) easing their lives through increased stature. We begin with a description of three factors underlying these goals: 1) the medical complications they experienced; 2) their ability to carry out daily activities and necessary adaptations; and 3) variations in the medical and psychosocial impact of the condition by age.
- Experiences with the Medical Complications of Achondroplasia
Experiences with medical complications fell on two dimensions: concerns about their severity and efforts to lead normal lives despite their symptoms. Participants described a variety of complications and their severity, including some which were serious or even life-threatening, but while acknowledging the medical effects of achondroplasia, some participants nonetheless stressed their good fortune.
A broad range of medical complications. Children and adults with achondroplasia experienced a broad range of complications; many required medical attention and caused notable worry. All but one parent described their child’s ear, nose, and throat (ENT) problems or their worry that these problems would occur in the future. Hearing loss, a result of repeated ear infections, affected social engagement. An adult with achondroplasia described her husband’s hearing loss.
I think that really affects his ability to communicate with people and hear people. Because if he doesn't hear what someone says, he won't ask them what they say. He’ll just nod his head. He might have missed something important. So, I think that is a really big issue, ear tubes and hearing loss. (I10)
Other complications among children commonly noted by parents were sleep apnea, foramen magnum stenosis, kyphosis, and leg bowing. Among adults with the condition, ENT problems, spinal stenosis, and leg bowing were frequently mentioned.
Both parents and affected adults mentioned one or more surgeries for a variety of problems including ear tube placements, tonsillectomies, spinal decompression, orthopedic surgery for leg bowing, or spinal surgery for spinal stenosis. In many instances, these surgeries were required at a very young age. One parent described the two surgeries her child had before he was one year old.
…Those two surgeries, it improved the sleep apnea that was being caused by the compression of the part of the brain that controls the breathing.…That was all before one-year-old. (C27)
Chronic pain affected daily lives and limited physical activities or social participation. A mother said that her son ‘was going to the nurse to get [painkiller] during the day …’ (C25), and she assumed that these visits limited his classroom time. She noted that she hoped his pain would diminish when the surgery for correcting leg bowing was completed.
Feeling fortunate. Although parents and adults in this sample described multiple complications, at the same time, some tended to downplay or even minimize these problems. Minimizing was expressed in three ways: as “feeling lucky”; feeling that their child was doing “better than expected”; and noting that their problems were simply part of life.
Feeling lucky was a common refrain. Participants felt lucky for a number of reasons. First, parents whose children experienced very few complications, or fewer than they anticipated initially, felt lucky. Second, participants felt lucky when the frequency of complications diminished over time and became ‘a minimal part of our life that we don’t have to constantly worry about it.’(C16) Feeling lucky was possible even if a child had experienced multiple surgeries or other problems.
…He’s been pretty lucky. He’s had the tube placements and adenoids, tonsils… and then he had like major leg surgery, but he hasn’t had to have back surgery and he hasn’t had to have anything really with his spine... So, we’ve been lucky, but my hope is that he continues to stay healthy. (C25)
Good fortune was relative, noticeable in contrast to others with this condition who might be experiencing more difficulty. An adult counted his blessings, despite experiencing surgery and chronic pain because others might not be able to be as active as he had been.
…I had surgery in 2003. I couldn’t believe that I walked around in pain like I did all my life until I had this surgery. That is the most major surgery that I’ve ever had, and it was a success. I count my blessings because there are little people who can’t walk, who can’t do half the things I do. I walk 10,000 steps a day. I treadmill. I walk outside. I exercise. …For being my age, I’m very active…(I15)
When their children were first born, parents said that they were told about myriad potential complications that might arise and described having considerable anxiety about the future. However, later, when their children had avoided or recovered from medical problems, these parents experienced relief. This response is particularly prominent for parents of average height who did not have prior experience with achondroplasia.
I expected her to have more complications. I expected it to be maybe a bigger part of our life, having to kind of manage any kind of medical issues that she might have. That really hasn’t come to fruition. We haven’t really had to worry about that at all. (C16)
Finally, chronic complications, such as pain became “one of those things” that one learns to tolerate. A mother talked about her son who had chronic pain.
And his pain is different from my pain…his is pretty consistent. It’s just something that he lives with and that we manage, or he manages with my supervision. So, I think he’ll just be used to that. I think that’s just one of those things. (C22)
2. Experiences with Functional Limitations and Adaptations
Functional limitations, resulting primarily from short stature and limb disproportionality, presented ongoing challenges for people with achondroplasia. Limitations affected how they carried-out daily tasks of living and their social activities. Below we show how participants characterized these limitations and their adaptations.
Functional limitations had a broad effect both on life in and outside the home. Reaching, carrying, climbing stairs and even traversing public spaces could present challenges. For example, reaching a toilet, sink, or shower faucet required use of a stool or lowering or re-sizing the bathroom fixtures. To use public restrooms, they had to bring a stool.
Some adaptations could be burdensome, both physically and psychologically. A mother described her daughter’s embarrassment about using adaptive devices in school because they drew unwanted attention. She reported that her daughter said:
‘I don’t like having to have this special chair at my school. I don’t like it. And then that chair has to follow me. Mom, the chair looks horrible. You don’t understand what it’s like. I don’t like having to have a stepping stool every time I go to use the restroom.’ Or, ‘I don’t like having to have to carry these wipes with me when I use the bathroom because people ask questions.’ [She says], ‘Sometimes I just hate it when people ask or point at me’… ‘What are you pointing at? (C33)
Participants reported difficulty reaching counter tops or shelves in stores, handles of shopping carts, pushing elevator buttons, or using ATMs. Stair risers were too high to climb or doors too difficult to open. One adult said: ‘I hate going to the grocery store, where I can’t reach the items. If they don’t have low carts or short carts, I have to practice as to how I’m going to layer the groceries in the cart so I can get them out.’ (I15)
Carrying large or heavy items was difficult. For example, children had difficulty using a school backpack. A mother with achondroplasia described her difficulty with carrying her own children. ‘It really affects the way I carry my son and hold my son …I can’t carry him for long periods of time because he gets heavy. My back starts hurting.’ (I10)
Smaller stature made walking long distances difficult. A mother explained: ‘…for every one step that an average child takes, he probably takes two or three. So, it’s more of a physical exertion for him to just do everyday things.’ (C22) To cover distances in an airport quickly, a parent described how they had their 10-year-old child ride in a stroller, something the child found humiliating and resented: ‘… I can tell it’s starting to bother him.’ (C25)
Participants mentioned enjoyment of outdoor physical activity and sports, but short stature sometimes required children to adapt by finding alternative forms of participation in group sports. For example, a child found a way to be involved in water basketball by directing the play from the edge of the pool rather than engaging in the water.
We were just on vacation, and there were some kids playing basketball on the water, and he was doing pretty well. He was treading water and throwing, but all these other kids could stand and he couldn’t. … And then after a while, he got out and started like coaching and directing everybody on what to do. So, he always finds a way to kind of make it work and still be involved in things (C25).
Concern about possible injury, especially to the spine, worried parents from infancy and throughout childhood, leading families to change aspects of their lives. Parents modified how they held their infants, used a stroller, or a car seat because ‘the spine was so unstable’ (C22), or changed childcare arrangements because they ‘worried about other people handling [their child] correctly.’ (C32) As children grew older, parents wrestled with wanting to protect their children from injury while allowing them to enjoy physical activity. They carefully weighed how much they had to supervise their children. Finding the right balance was difficult.
Despite challenges, individuals and families were often able to adapt to physical limitations. Some families made extensive changes to their homes such as lowering light switches, lowering counters, and re-arranging closets. Others made only limited changes in the hopes that their children would learn to function independently in environments built for persons of average height. As one adult participant remarked: ‘... [It’s] the only life that I’ve known, and so you kind of learn to adapt. You learn to especially when it comes to things with school or even in the real-world setting, like how do I brush my teeth or things like that, you find solutions.’ (I06)Adaptations enabled families to do many of the same things as individuals of average stature, as one said: ‘…we can do absolutely anything anyone else can do. It just might be harder.’ (I10)
3. Variations in the Physical and Social Concerns by Age
The participants in this study talked about the variation in medical complications and social concerns across age groups. In their view, the trajectory followed a U-shaped curve (Figure 1). The most acute, or troubling complications such as foramen magnum stenosis or repeated ENT problems were more common in the youngest age group (infancy into early childhood). As individuals grew into childhood and adolescence, they observed that medical complications tended to diminish in severity and frequency. In adulthood, complications, particularly related to the spine and chronic pain, became more prominent again. An adult commented on this phenomenon saying: ‘And they face even more concerns, at least initially, and then will face similar concerns as they age as well. (I06)
In the view of participants, age trajectory for social concerns also changed with age but the curve followed an inverse shape (See Figure I). Psychosocial concerns in the youngest age group centered around parents’ needs and family concerns; participants expressed less anxiety about immediate social and emotional needs among the younger children. Such concerns increased as the children entered school. As individuals settled into adulthood social and emotional concerns largely receded in importance. In the following section we describe the variation in social and medical concerns by age group.
Study participants described early childhood as the period when people with achondroplasia were likely to experience the greatest number of complications, many of which could be acute or severe. A mother reviewed a litany of potential complications but ended her list by noting that her daughter was getting past this most “dangerous age” and in her view would be less likely to experience medical problems: ‘She’s almost two, so we are passing the more dangerous age…’ (C17)
Parents of children approaching the end of the “dangerous” period expressed relief that their child had made it through the worst and seemed to be healthy. At this point, their anxiety about medical complications diminished.
…He’s doing incredibly well, and he’s very, very healthy right now. And kind of getting over the hump of age two or age three without any major things going wrong is really a huge, huge relief. There’s a lot of anxiety and a lot of worry with these kiddos the first couple years of life. And so, it was not easy, and it was kind of scary just knowing that any of these really major things could kind of happen and pop up at any time (C28).
When children entered school, concerns shifted to the emotional and social needs of their children. At this age, children became increasingly aware of differences in height and functional abilities. An adult recalled: “And so then it wasn’t till probably grade school that it became aware from my perception that I was different (I06).” While they spent more time with peers, children and began to experience stigma and bullying. Parents reported that their children were called names, laughed at, or physically bullied by classmates or people they encountered in the community. They described experiencing inappropriate attention such as staring, or asking to take a photograph. A mother explained:
… People would look at her and immediately like run up to her and be like, ‘Oh, you’re a little person. Can I take a photo with you?’, which is something I’ve seen happen multiple times or friends of ours have told us about (C30)
A mother described how she found that ‘…Sometimes adults talk down to him because he does look younger, but that his intelligence is off the charts. He’s a smart kid.’ (C25)
Although these problems were noted in adolescence and adulthood, they were most difficult for school-aged children who were still learning how to manage difficult interactions. One mother noted that, in her view, this could be a particular problem for children: ‘When they’re children, I think they do experience some bullying and, I guess, being treated differently because of their stature.’ (P23)
Entry to school required finding accommodations for a child’s functional limitations. This transition presented emotional challenges for parents. They had concerns, for example, about how their children would use the toilet in school. A mother explained: ‘Starting school was very stressful for me. I was concerned with self-care at the school.’ (C31)
During adolescence concerns became largely psychosocial in nature. As might be expected for adolescents with achondroplasia, concerns about friendship, fitting in, and dating became prominent. A mother of a young child anticipated the shift: ‘… I worry as he gets older…the height difference continues to be really be obvious. I worry about …him social.’ (C13) She wondered what it will be like for her son when he wants to join the school marching band, go to the prom, or drive. Another mother worried about the potential detrimental effects ‘physically standing out’, particularly for her daughter’s ‘mental health through her preteen and teen years too and her self-esteem.’ (C16) One parent expressed concerns about the difficulty her child might face as she became interested in dating, ‘…Its going to be really hard when you get to the age of crushes and all that.’ (C20)
In adulthood, both parents and adults reported that medical problems resurface, primarily in the form of joint and back pain, particularly associated with spinal stenosis and related back surgery. A parent explained: ‘I know people who were totally fine and had no medical complications, and then they turned 38 and all of a sudden couldn’t walk one day and had spinal stenosis.’ (C28) Parents worried about the need for future surgeries and the associated pain, concerns, that a mother said were problems that were ‘associated with aging that I worry about.’ (C16)
Despite the increase in focus on medical problems in adulthood, social stigma; and discrimination was also a concern. Some reported limited career options. An adult participant reported,
I had to meet this new administrator who questioned me like how was I going to reach things. “Well, I’ll stand on a stool.” “Well, what if you fall off the stool?” “I won’t fall of the stool.” I said, ‘I’m not a safety hazard.’ He wasn’t going to hire me, and I was the only degreed person. (I15)”
Although they were aware of the age trajectory, participants recognized that the age and frequency with which complications occurred was variable and the future was unknown. Some found this uncertainty to be anxiety provoking: ‘It’s totally hard to predict. So, there’s never a point where like, you get to age 10, and you haven’t had this, you’re totally fine. There’s always kind of a worry.’ (C28) An adult similarly emphasized the uncertainty of medical needs as people with achondroplasia age:
…There are things outside of your control, right? You’re going to have spinal compression—the risk for any kind of spinal compression or joint and leg pain or neck pain can be kind of out of your control. And you really don’t know how you will be when you’re older, because you’re going to naturally age. So how is that wear and tear going [show up] for you? (I06).
Participants had treatment goals related to two outcomes: easing their lives by increasing height and preventing or ameliorating complications. In addition, we also found that some participants were doubtful about the benefits of treatment, and some who were less enthusiastic about increasing height because they were happy with themselves and wanted to maintain their identity as a little person. In this section we describe the themes for each of these four areas.
- Increasing height
Increasing height was not necessarily an end in itself. Rather, increased height would help them in three ways: 1) creating an independent life in an average height world by removing functional limitations; 2) fitting in socially; and 3) minimizing discrimination and stigma.
Fitting into an average height world and greater independence. Increasing height would facilitate the ability of individuals with achondroplasia to carry out daily activities, helping them to function more easily because, as they noted, this ‘…world is built for people for average height. It’s not for people with achondroplasia.’ (C17) Parents commented that they hoped that increased height would help their children with ‘just normal activities that you do day in and day out. I just don’t want her to always have to think every day, ‘Oh, I can’t...’’(C31) One parent hoped that treatment would ‘Really just provide the growth so that he could be closer in height to an average height. When you think about it, everything in this world is designed for that certain height.’ (C01) Parents cited examples such as:
…If you gain a few inches, maybe you can drive a car without having all the equipment. Reach out to a door opening and opening a window. …They’re daily things that you could perhaps avoid by doing a treatment that’s safe, that’s giving me reason to do it (C12).
One parent thought increased height would help: ‘…in terms of toileting, that’s huge. Just access in stores, in the workplace, in public transportation, in her own transportation. It’s every moment of your day, it would impact.’ (C20) With additional inches in stature, it would be: ‘feminine hygiene, making her bed…I think driving a car will be easier for her, and she’ll need less accommodation there.’ (C16) For another mother, increased height would have enabled her daughter to be ‘a more free kid.’ She said her daughter: ‘could have ridden [a bike] when she was little with all the other kids, or gotten to do the bounce houses.’ (C31)
Fitting in socially. There were multiple dimensions to the benefits of fitting in socially that would make life “easier” or help their child to be “fully embraced and sort of accepted (C18).” These dimensions included the ability to find friends, life partners, and employment. An adult speculated about how increased height through limb lengthening might have changed her life:
Maybe it would have been easier socially to make friends. And if I wanted to marry an average sized person, it probably would have made that easier. It might have been easier to become more of an athlete or drive a car without pedal extenders or not need so many stools. So, I can definitely see how it could have made life easier. (I10).
In some cases, fitting in socially meant simply looking like an average person. A mother described how distraught her child was when she learned that she would never grow to be the same height as her parents. A mother said her daughter was upset to learn she would not be average stature. ‘…She did get really upset and start[ed] crying and said, ‘But I want to be big like you.’’ (C20)
Another parent observed that sometimes being little can affect social interactions because little people cannot look average-stature people directly in the eye when they converse standing up. This mother noted that a friend chose to have limb lengthening surgery in part because of these types of challenges. She said: ‘…one of the things she said was when she would speak to someone, …she was eye level to their crotch. I’m not a little person, so I wouldn’t even think of that. And I’m like, ‘Oh my gosh.’ Like she would always have her head down. She would never look up.’(C26)
Parents recognized the potential psychological benefits of fitting in. A mother summarized saying: ‘the social, emotional, mental health benefits to her would be big’, later elaborating this would be because their child would, ‘stand out less from her peers.’ (C16)
Avoiding stigma and discrimination. Closely related to the desire to be socially accepted were experiences with being stigmatized or discriminated against at school, work, or in the community. Parents believed that their children might avoid negative social experiences with increased height. For example, a parent hoped that a height increase might improve career opportunities. ‘…She would be less likely to face potential discrimination due to her size if she was able to have more growth.’ (C16) Another felt that an increase in height could help prevent unwanted attention and bullying. She said: ‘To be closer to at least the bottom range of the average height people so that he doesn’t stand out. People don’t always point at him and… bully him.’ (C21)
2. Ameliorating or Preventing Complications
Preventing or ameliorating complications was important to all participants. They hoped that treatment would help to lessen or avoid complications in childhood, or prevent them as individuals age. In particular, four benefits of treatment were noted, benefits that reflected the most troubling complications described above. In addition, where a child along the age trajectory influenced views on treatment.
Preventing or ameliorating spinal problems. Concerns about issues related to the spine were prominent: ‘Anything that can prevent issues with his spine, those are very strong selling points for me.’ (C27) Another parent said:
… if they had come to me and said, ‘Oh, this medication is going to widen her foramen magnum and …she’s not going to need a neck surgery or shunt surgery’, of course, that would be something that my husband and I would have totally talked about and considered (C9).
Preventing pain. The desire to keep their children from experiencing pain, including joint pain, and pain as a result of surgeries was an important benefit of treatment. A mother hoped,
That there wouldn’t be the back pain, the leg pain, the knee pain, the neck pain, the surgeries. …that would be the most important. That it would take care of just that pressure being put on her body as she would grow (C14).
Preventing surgery. In commenting on the value of treatment, a mother exclaimed that if a treatment had been available that could prevent many of the complications her child experienced, she would have started treatment as soon as her daughter was born.
… She had decompression surgery. She’s had four sets of tubes. She’s had her adenoids out twice. If that all could be avoided, yep. If somebody had said to me at 33 weeks pregnant, ‘the day your baby is born, we can give them medicine that could help with avoiding all of that.’ I would have started day one. I would not have hesitated (C31).
Age Trajectory Shaped Treatment Views. A child’s age, or where a child fell in the age trajectory of achondroplasia influenced parents’ considerations about treatment. One parent talked about how receptive they would have been to pharmacologic treatment when their child was facing serious problems. As these problems diminished the parents also thought less about treatment.
I would say when we were going through the really scary times about a year ago when they thought he was going to have major brain and spine surgery, we were both more on the fence of like, ‘Let’s do this. If anything can help us, if anything can prevent this from happening again… let’s roll the dice (C28).’
This parent went on to explain that if their son was experiencing more severe problems, they would have done “Anything possible to prevent surgery: [I] think if the last three years were different for us, I could imagine wanting to do anything possible to prevent horrifying medical surgery (C28).”
Preventing problems in adulthood. Finally, preventing problems in adulthood could be a motivator for parents. A mother said: ‘I want to decrease the chances that my kid’s going to be using a walker in her late fifties or have surgeries or pain…’ (C20)
For a few participants, ameliorating or preventing complications was more important than increasing stature. They believed that treatment would not be beneficial if it only increased stature; they would be most focused on preventing complications and pain. As one adult said:
Not just the height. That is not something that I really care about. I care more about [whether] it will improve the size of the thoracic cavity and also the shape of the facial structure and also the foramen magnum, because there are some kids that have a recurring narrowing of the foramen magnum even though they had already had the surgery done. So, if those are positive things that that drug can solve, I will consider it. (C27).
3. Doubt and Negative Views
Doubt about the range of benefits that pharmacological treatment could offer patients was expressed by some. This skepticism was driven by two concerns. First, they believed that despite treatment, a patient would still have achondroplasia. Second, some wanted more information about the potential effectiveness of treatment beyond height benefits.
My child will still have achondroplasia. While recognizing that treatment could increase height, they anticipated that it would not change the fact that their child has achondroplasia, or as one parent said they will ‘still have the gene. (C09). Another speculated that increasing height may not change other phenotypic features of the condition: ‘…Sure, you’re getting some height, but you’re not really addressing a lot of the other phenotype characteristics. Like, the trident hand, your feet, the larger head and frontal embossing.’ (I06) A mother had similar concerns:
I’m just trying to be a realist. I don’t think it really will change much how he looks because achondroplasia is a condition that is the only dwarfism that is disproportional. Like your head, a regular-sized trunk, but shorter limbs. They look different, and I don’t know how much really will change that. And also, adding the fact that he has hydrocephalus. His head is even larger (C27).
Height is part of our identity, and there is nothing wrong with being little. Being a little person was an important part of identity for many and they liked who they were as little people. One parent explained simply that their child, ‘likes being small.’ (C12). An adult echoed this sentiment, pointing out that his experiences with achondroplasia helped him to see the world in a different way, helping him to be more creative.
I think a lot of that has actually led to my creativity, which has helped me from a professional standpoint of always looking at problems from a different lens or always thinking how can we better improve different things from a professional perspective (I06).
Suggesting that they would want to increase their height was seen by some as being offensive and critical of who they were. In their view, the world should learn to accept them as they are. One parent said: ‘… [Little People] kind of want society to be better instead of—they don’t think they should try and change for society, and that’s kind of how we feel (C09).’ She noted that height is not a concern for her and her family. Another parent said:
…I think people just need to realize that just because someone is short in stature, that’s it… There’s no cognitive delays or things like that. So, I think it’s just a matter of people becoming familiar with achondroplasia and with dwarfism in general and just treating people like people and not be so affected by the height difference (C14).