Living Independently with Turner Syndrome

Turner Syndrome (TS) is a genetic condition that affects 1 in every 2,000 live female births. Individuals with TS usually have short stature, may be infertile, and may experience a variety of medical, cognitive, and psychological challenges. Given these challenges, patients with TS need access to specialized medical, educational, social, and psychological resources to live a full and independent life. The Turner Syndrome Foundation (TSF) provides resources and solutions for patients and families affected by TS.

Independent Living

Living independently with TS means meeting the challenges of the condition while having the same choices and control in everyday life as friends and peers. It means a child with TS can do their own homework, make their own friends, and go to the neighborhood school. Living independently means an adult with TS can drive a car or use the same bus as their neighbors, work in jobs in line with their education and interests, and, if desired, start a family. Most importantly, it means maintaining their health by making and keeping medical appointments, with adequate access to a team of healthcare specialists. 

Individuals with TS who are independent feel self-confident because they are able to face the challenges of the condition without hesitation. Successfully facing the challenges of TS builds self-esteem when someone believes they can deal with any challenges that come their way.

Living independently provides individuals with TS both physical 

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and psychological benefits. Physical benefits include having improved health and longevity. Psychological benefits include the development of self-determination, self-respect, self-confidence, and self-esteem.

Challenges Faced by Individuals with TS

Individuals with TS face a number of physical, medical, cognitive, and psychological challenges, but they can learn to manage  these issues and thrive.

Physical

The physical challenges of TS include short stature (with an average adult height of 4’8”), and not experiencing puberty (including breast development, beginning menstruation, and being infertile due to having non-functioning ovaries). Individuals with TS often have other “atypical” physical traits not shared with their peers (e.g., “lazy eye” and/or drooping eyelids, a small lower jaw, a webbed neck with extra skin folds, etc.). Since TS affects every person differently, those with the condition may have all of these characteristics or only a couple.

Medical

Medical challenges caused by TS include structural defects of the heart and high blood pressure. These factors may be life-threatening later in life if not corrected with surgery. Individuals with TS may also suffer from a number of lifelong medical conditions, including osteoporosis, hypothyroidism, celiac disease, inflammatory bowel disease, frequent middle-ear infections and hearing loss, recurring kidney infections, insulin resistance, and type 2 diabetes.

Cognitive

The cognitive challenges associated with TS include issues with visual motor and spatial skills (seeing how objects relate to each other in space). Individuals with TS may also have trouble with managing tasks and planning, committing ideas to memory, interpreting the meaning of spoken words, paying adequate attention, and having the cognitive flexibility needed to adapt to changing situations.

Watch a recording of TSF’s “Cognitive Impacts of TS” webinar for additional information.

Psychological/Mental/Emotional

The psychological/mental/emotional challenges of TS can include low self-esteem, anxiety, and depression. These issues may be the result of having a poor self-image related to short stature, not experiencing puberty, and dealing with the medical conditions noted above. Also, many individuals with TS may be upset about their infertility, given familial and societal pressures to reproduce. 

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Strategies for Overcoming Challenges

Dealing effectively with the physical, medical, cognitive, and psychological challenges noted above can help an individual with TS live independently. Strategies for effectively dealing with these challenges are presented below. 

School

The cognitive challenges of TS can manifest themselves as learning challenges in the classroom, including deficits in visuospatial organization, social cognition, and mathematical problem solving. To identify these learning challenges, a parent/guardian can consult with a developmental pediatrician, who can conduct a psychoeducational evaluation (an assessment of how a student learns with respect to reasoning, memory, and working efficiency).

If learning problems are found, early intervention strategies can

help, including special education classes taught by educators knowledgeable about TS. The school can implement an Individual Education Plan (IEP) that outlines a set of objectives and services to help the student succeed.

Educators, parents/guardians, school psychologists, and school nurses can educate themselves about TS by consulting the Educators and Learning pages on TSF’s website. With these resources, educators can learn about the clinical, cognitive, and social impacts of TS. They provide information and materials to enhance students’ learning environments and outcomes. Educators can also join TSF’s contact list, which allows a parent/guardian to easily identify educators within their area who support students with TS.

Children with TS may exhibit learning challenges associated with nonverbal learning disorder (NVLD). Educators can help the student with TS through exercises that help pair written and verbal information. Educators should provide the student with a balance of one-on-one instruction and access to the regular curriculum. Access to the regular curriculum exposes students with TS to their peers to sharpen their verbal skills in class discussions and practice socialization skills.

Being Treated Differently

People with TS are often treated differently by others because of their smaller stature and lack of sexual development. They may be treated as younger than they actually are, ostracized, or bullied. Parents/guardians of children or adults with TS should respond by insisting that they be treated according to their age, not how old they look! Adults with TS should seek employment with companies that foster proper treatment according to ability and performance and not appearance or medical status.

Individuals with TS can be introduced to body-positive social media influencers to promote confidence in their own body image. These influencers may be found online, in the media, or on social media apps. People with TS can attend events and/or support groups for TS where they benefit from learning that they are not alone. Parents and friends can encourage them to try different activities and take on different interests that expose them to self-care, self-love, and self-confidence (e.g., empowerment yoga, meditation, etc.).

Individuals with TS can be their own advocate. They can encourage

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their peers to join organizations, groups, or school clubs specifically geared towards teaching others about TS. This will spread awareness of TS and lead to increased acceptance. When people who do not have TS become familiar with the condition, they may be less likely to ostracize those living with it.

Relationships

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When dealing with relationships, individuals with TS should be upfront about what the condition involves (i.e., infertility, home and transportation accommodations, etc.), but according to their own 

timeline and comfort level. For example, a person with TS in a romantic relationship can be open about family planning options that include in-vitro fertilization or adoption. People with TS should be free to be themselves in a relationship. They do not want to be in a relationship with someone who will suppress who they are. Working on self-care and self-confidence also helps individuals with TS love themselves and others. Individuals with TS and their partner(s) can learn about and practice healthy relationship traits by consulting websites such as the One Love Foundation.

Friendships should foster typical friendship characteristics–mutual respect, honesty, caring for each other–so that friends without TS can acknowledge and accept that the friend with TS has different capabilities and needs.

Read more in a recent blog post on social skills and relationships.

Employment

Employees with TS may encounter additional workplace challenges resulting from the physical, medical, and cognitive issues related to the condition. Responding to these workplace challenges is the responsibility of both the employee and the employer. The employee with TS and their employer need to be proactive in preventing work peers from making predetermined judgements about the abilities of the employee with TS. 

Many employees with TS have hearing difficulties, which can be exacerbated by mask-wearing. The employer and work peers may need to speak clearly, face the person they’re talking to, and repeat things. The employer may need to obtain and deploy special adaptive equipment, such as amplifying phones and/or headphones. Additionally, the employee’s physician may advise them to wear hearing aids.

To combat the cognitive challenges associated with TS, the employer should permit the employee with TS to have a number of short breaks to allow them to refocus and divide tasks into manageable sizes. The employer should be explicit and direct with the employee when they need a task done and provide clear guidance as to which tasks should be completed first. This will help the worker with TS prioritize. 

Some employees with TS may find it hard to fully participate in a team at work because of hearing loss and low self-esteem. To

combat these challenges, the employee with TS can think to themselves how they plan to approach a task. They can also set their expectations according to how they are impacted by TS. For example, they can seek roles that involve more individual work. If they have a tendency to be very literal, they can seek a role that is more bound by rules and procedures.  

Individuals with TS should keep in mind that there are many occupations that require a whole range of skills and capabilities. They are likely to find an occupation that will suit them well. They only need to look around at the range of successful people with TS to see that, although the individual with TS may face challenges, TS in itself is not a disability. Just because an individual has TS does not mean they are inherently incapable of completing certain tasks. TS does not have to hold them back at work.

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Driving

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Because of the physical and cognitive challenges of TS, drivers with the condition have trouble with a number of aspects of the driving experience. Some communities may have programs that provide driving assessment and special training (e.g., the driving 

assessment provided by the Spaulding Rehabilitation Hospital in Boston). Drivers with TS can engage in certain physical activities (e.g., riding a bike, practicing dance or yoga, or playing some sports) to help them better understand the relationship between space and coordination. 

Cars used by drivers with TS can be equipped with adaptive equipment that compensates for their small stature. Common examples include mirrors (side and rear), adjustable pedals, and seats that help the driver sit higher. It may be helpful to vocalize driving actions (e.g. “I am taking a right turn out of my driveway. Now, I am driving to the end of my street.”).  

Drivers with TS may find it difficult to follow GPS directions or pay attention to the road and a GPS at the same time. They can consult with a driving instructor or a member of their medical team regarding whether using a GPS is safe, and which type of GPS is safest.

Maintaining Health

Establishing a Care Team

Many of the challenges of TS can be mitigated with early intervention and treatment in childhood and/or adolescence. Because these treatments are generally hormonal in nature, the parents/guardian of a child/adolescent should first consult with an endocrinologist who is knowledgeable about TS. The endocrinologist should coordinate with the child’s pediatrician and other specialists who are responsible for monitoring and periodically evaluating ongoing medical conditions associated with TS, including:

  • a cardiologist,
  • an ophthalmologist,.
  • an otolaryngologist (ENT),
  • a psychologist or psychiatrist (for treating depression and/or anxiety)
  • a speech pathologist, and/or
  • a cardiothoracic surgeon (to correct heart defects).
Transition to Adult Care

Parents/guardians generally make initial physician appointments, arrange follow-up appointments, obtain medication, handle insurance, etc. To aid in the transition from childhood to adult care, parents/guardians should gradually allow their child/

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adolescent to take charge of their own medical care.

In adult care settings, patients with TS must make appointments themselves and show necessary documentation, such as insurance information. They must participate in the appointment by listening and asking questions about TS, making decisions about treatment, disclosing certain information about their symptoms, etc.

Adult patients need to educate themselves and understand the implications of TS and how it may affect them. This includes receiving medical evaluations at regular intervals from the specialists noted above. They should consider creating a checklist or spreadsheet of the medical exams/tests they should have. 

Health Resources

Adult patients with TS can consult the Guidelines & Resources on TSF’s website. They can join Star Sisters, a private, online group that offers education, community and support for those affected by TS. If their care team is not familiar with TS, they can encourage them to join TSF’s Professional Membership Program

By joining this program, medical professionals can gain access to an exclusive website dedicated to TS care and a network of other professionals with whom they can share knowledge and research. Additionally, their practice will be highlighted on the TSF website, which allows patients to easily identify providers within their area who treat patients with TS.

Health Insurance
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Adult patients with TS may not be able to find or afford health insurance that covers a team of specialists who have an understanding of TS and the necessary treatments. There are a number of resources available that provide insurance assistance. TSF recommends that patients speak with their primary care physician (PCP) to identify a social worker who can assist them. Adults with TS can also:

  • contact American Hope Resources;
  • contact their state Department of Insurance and ask about consumer assistance programs and patient advocacy groups (national organizations such as the Healthwell Foundation offer patient assistance);
  • ask the PCP if they are familiar with any organizations or charities in the patient’s area which offer assistance;
  • check on free or discounted medications offered by bio-pharmaceutical companies. The drug company may have a prescription co-pay plan to reduce monthly out-of-pocket expenses (See, for example, Growth Hormone Reimbursement Assistance Programs);
  • order a three-month prescription via mail (many insurance companies offer a three-month supply of medications at a reduced rate if ordered by mail);
  • ask the PCP if any of the drug representatives servicing the office can obtain medications at a reduced rate;
  • check whether their state offers insurance through a Medicaid HMO, with eligibility based upon income, and consult with their state Medicaid office to see if they qualify; and
  • access insurance coverage through the Health Insurance Marketplace.

Live Your Best, Independent Life!

TS affects each individual differently. Most of the challenges caused by TS can be overcome with early intervention and treatment. With the right medical care, early intervention, and ongoing support, individuals with TS can lead independent, healthy, and productive lives!

Written by Ray Cappo, TSF volunteer blog writer, and edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.

© Turner Syndrome Foundation, 2022

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