Many people are not familiar with the term “skeletal dysplasias.” However, many people do have a frame of reference for little people. Unfortunately, that frame of reference may be less than positive. For some families, this will be completely new territory.
All healthcare providers must strive to educate, provide support, and foster understanding, while imparting reasonable expectations related to life stages in those with skeletal dysplasia.
It’s all new—a new baby, a new diagnosis, a new vocabulary, a new team of professionals.
Parental education and understanding are key themes. Parents need education and supportive reinforcement regarding differentiation between child development and specifics of the dysplasia. Compliance with well-care pediatrician visits is underscored; for example, ear infections and vaccinations are handled in exactly the same manner as with children who do not have a dysplasia.
Healthcare providers must maintain consistent exploration with parents regarding the child’s activities of daily living (eating, sleeping/napping, response to discipline) to evaluate any additional medical issues or parental stress levels.
Of paramount importance is the availability of resources (health team members, support groups, education material, family, friends, religious organizations, etc.) that provide emotional support for parents and families when they become aware that there really is “something different” with the child who is growing out of infancy and is showing physical evidence of truly being a little person.
Continuing conversations with the child, parents, siblings, and other family members on how to deal with questions posed by relatives, friends, neighbors, and strangers are not only necessary but provide a window to how the family is coping with the reality of the child’s dysplasia.
Looking like members of your family is a defining, concrete marker of belonging, of being connected. For some people, they will have the experience of growing up in a family with generations having the same dysplasia. The value of this is that he/she has family members that he/she looks like, and is like. For people who are the only one in their family with a dysplasia, feelings of alienation or "not belonging" can be an issue.
Many patients with dysplasia routinely are diagnosed early in life (as a newborn or in infancy). Some patients may not be given an actual diagnosis until they are older, or even adults. Once the family knows the name of the condition, work needs to be done to provide condition-specific information as well as support for the patient, parents, and family.
Given the amount of time that the condition was not definitively diagnosed with a specific name, family, particularly parents, may maintain a hope that the current diagnosis is not accurate and really nothing is actually is “wrong” with their child.
For children from birth to age 3, a referral to Early Intervention Program (EIP) may be indicated to assist the child in achieving developmental milestones. EIP services include physical therapy (PT), occupational therapy (OT), and speech therapy (ST). Services can take place in the home or a facility near home. Depending on the child’s needs, EIP services are individualized, goal oriented, and in some situations, time specific. After the child turns age 3, EIP staff will help the child and family to transition to preschool.
After transitioning, the Committee for Preschool Education (CPSE) will facilitate and manage educational and therapeutic services for the child. Not all children will require a therapeutic preschool, or even the same services they received from EIP. Upon evaluation, some children may be on par with peers of average height in the same age group in terms of developmental milestones.
CPSE staff will work with the family on establishing a plan that provides the biggest benefit to the child’s continuing development.
Preschool placement, in a continuum of progression from Early Intervention Program (EIP) to Committee on Preschool Education (CPSE), needs to be explored in tandem with the child’s anticipated needs when out of the home (i.e., durable medical equipment, transportation, caregiving assistance).
School, as for all children, is a central theme. Although nearly all children with dysplasia are mainstreamed, some children, dependent upon their school district, will require parent-school staff conferences to tailor an Individualized Education Plan (IEP).
Parents need to find the fine balance of reasonable accommodation for their child’s needs (i.e., a special size desk vs. footstool for using a standardized desk, or sitting in the first row of the classroom) and being an accepted classmate. The Committee for Special Education (CSE) will be directly involved in this process as EIP and CPSE had been involved in earlier developmental stages of the child’s life.
Children learn how to make their place in the world from their parents/family. Parents need to balance their innate desire to protect their child with learning how not to be overprotective.
School is a major theme for all parents but can present additional challenges for parents of children with medical conditions. The goal should be obtaining special circumstances or services that are necessary for the child to safely and positively attend school. For example, having physical therapy at school (if physical therapy is medically indicated) makes better sense than having the child routinely leaving school early for an outside physical therapy appointment.
Some schools may insist on a child having a para, or aide. Parents, in tandem with their child’s health team and school staff, need to evaluate the value of a para for the child: Will the para really be of benefit to the child, or will the role of the para distance the child from engaging with other classmates?
Parents need to confer with their medical team regarding safe activities in and out of school. Children are becoming more aware of their peers, as well as the differences between them, and can be vulnerable to comments and teasing. Parents are encouraged to directly answer the child’s questions about their medical condition in simple, age-appropriate language.
Children should have family responsibilities that are ability-appropriate (i.e., folding laundry, feeding pets, picking up their room, etc.). Parents may be reluctant to give the patient any household chores but it is important for the child to learn about being socially accountable and having communal responsibilities.
While the condition has some impact on the child’s life, it is crucial that the child not be limited to a self identity that is solely defined by the condition.
School (including physical adaptations in the classroom and safe activities in and out of school) should be addressed with support and education from the patient’s medical team. The patient’s own understanding of the condition and how his/her body works (as opposed to asking, “What’s wrong with me?”) is paramount. The child’s family and medical team play crucial roles in this understanding and its subsequent impact on the patient as he/she matures.
With the teen years, the patient is of the age when friends/peers are a major priority. Positive relationships, outside of the family, are significant developmentally.
Finding safe, ability-specific activities that tap into interests and talents may be a bit more challenging for a teenager with a skeletal dysplasia. For example, football - due to the high intensity of physical contact - may not be safe, but swimming can be a positive sport, either as an individual activity or as being part of a team.
In families where there are other family members with the same condition, positive individuality continues to resonate as a goal. Being defined, or being limited, by your medical condition is not a healthy self-identity, nor is being compared to a family member who has the same condition. Age appropriate expectations - graduating from high school, post high school plans, planning for your adulthood - are impacted by the condition, but are equally important as for peers of average height.
This process begins with the establishment of autonomous living, whether it takes place in their family home or in a separate dwelling. Realistic expectations about independence with ADLs (Activities of Daily Living) should be shaped with input from their family and health team. Career/work decisions need to be based on physical capabilities as well as interests and skills. The patient needs to be knowledgeable about his or her medical history and take responsibility for current medical needs, including routine appointments, treatments, and follow-ups. Social networking concerns include isolation or acting out (i.e., excessive drinking, drug use, or unsafe sexual activity).
For many people, going away to college is a rite of passage. For example, Jim* - a patient at the HSS Center for Skeletal Dysplasias - and his family exemplify what all families in this stage go through, but since Jim has a skeletal dysplasia, it can be even more challenging. This patient, who lives away at college, is entering his senior year.
He, with good support from his family, has found a good balance of growing independently with the impact of his medical condition. He takes care of his own dorm room and has no other special requested needs other than a dorm room on the ground floor. His major of mathematics can provide a foundation for several venues for employment. He has gone for adaptive driving classes and has a car that he can drive using hand controls. Beyond his family, he has a good social network of friends and dates. He works in the summer as a pool attendant to save money for school. The request for a ground floor dorm and hand controlled car notwithstanding, his life is on par with many other people his age.
Each patient’s particular version of autonomy, considering the impact of the dysplasia, is to be explored. Does the patient live alone? What is the physical layout of the home? How are household chores (cleaning, shopping, meal preparation) performed?
The concern should be to evaluate independence, safety, and social outlets of patient’s day to day existence. Social isolation can become more significant now that the patient is post-college age and may have some physical changes (breathing issues, chronic pain, back pain, hearing loss). Support systems - family, friends, social networks - or lack thereof, have great significance to patient’s overall sense of well being.
Questions regarding sleep patterns, pain management, and activity levels will gauge the patient’s ability to cope with difficulties, depression, substance abuse, or destructive behaviors. Employment and insurance issues can be even more precarious for this population.
Alternatively, some people may have made decisions earlier in their lives to participate in Federal and State programs that sustained them while living with their families; however, as siblings move on and parents age and/or die, independent living may not be financially possible.
Realistic planning for getting older is not easy for most people, but for people with chronic health issues that affect independence and mobility, it is essential.
*Name changed to protect identity
Lorraine Montuori, LMSW, LCSW
Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias