After the Diagnosis

Coming to Terms

Coming to terms and sharing the diagnosis of Turner Syndrome is an individual process from discovery to disclosure.  Health information is sensitive and for many private. There is no right or wrong way to share the diagnosis. Turner Syndrome does not define a person, nor does it limit who she may become.


Acceptance

It is important to first claim your own acceptance of the disorder. If you need help finding acceptance of the diagnosis and possibly the medicalization of yourself or your child, you should consider speaking to supportive family members, a healthcare provider, a trained counselor, or clergy.  Take the time you need to process all of the information you will need to know. It may take a while but in time you will come to realize you are on a path to acceptance and life will go on.


Sharing the Diagnosis With Your Child

Some parents chose to provide information on a need to know basis in age appropriate language. This is often applauded because when a diagnosis of Turner Syndrome is not discussed, children are often left painfully aware that they’re different, without knowing why. Talking about disorders—not just naming them, but identifying what the feelings and behaviors are that are challenging for them, helps them make sense of their lives. “This is why things are challenging for me. This has a name and other girls have it, too.”

Read this white paper to help you decide the best time to share the diagnosis with your daughter.

Speaking With Others

  • Physicians – Managing a complex disorder entails coordination and communication of many providers. There should be full disclosure with medical providers. Building a well-informed and collaborative team of physicians is essential. Explore State Resources to find medical professionals and centers of care in your state or search providers in your area.
  • Educators – Many children when tested for placement will fall within the normal parameters and will not qualify for the protection of special education.  By sharing the diagnosis, a child may qualify for special services if needed. Many do not want their child labeled or inhibited in any way; rather, they encourage them to work to their ability. But, one cannot overlook the potential health implications for this disorder and should provide the school nurse with a copy of the NIH clinical guidelines and a brief description of any known implications; especially if there are any, cardiac, attention, vision, hearing or behavioral issues. Positive educators and a least restrictive environment are key elements for girls with Turner Syndrome to flourish in school. If the child is exhibiting educational or social difficulties, seek services for conditions associated with TS. For more information, visit Learning
  • Community – Safety should always come first.  You may consider sharing vulnerabilities with or without labeling the condition, and encouraging participation in a host of activities so she can decide the activity she prefers, for example drama class over softball.
  • Family and Friends

 – It is helpful to welcome the caring support of family and friends as you navigate through the emotions of a new diagnosis. Talk with them about your feelings and ask for their help when it is needed.
  • Child – In age appropriate terms, speak openly with your child about her health, cognitive, or social issues. Explain why she must see several doctors for tests and treatments. Honest conversations, answering questions, and listening to concerns are mutually beneficial to the bond of a caregiver and child. Take time to learn and process your own feelings before speaking with your child. If you need help starting the conversation or finding the right words to say, consider speaking with a provider, social worker, counselor for assistance.
  •  Withholding the diagnosis

Self Advocacy

The best line of defense is to be proactive in everything you do.  The first place to start is to understand your rights.  We have developed tools that can help patients learn navigate through medical and insurance systems. Learn more about self-advocacy


Getting organized!

Managing a complex disorder will require that you get organized. Keep good records with a two binder system to keep all of your important papers in order. One binder for medical records and the other for education. Use plastic card holders and pocket folders to organize documents by specialty. Use a small notebook to write questions before and during visits. Write down your thoughts and keep a calendar. These simple tools will help you stay organized and help you feel in control.


Stay Positive!

Your experiences affects the way that you feel, think and act. Just as you need to care for your body, you also need to care for your emotions. Learn to recognize when you need support with emotional issues. You will also find resources to turn to for support moving forward. By learning to productively express negative emotions and reduce stress, you will increase positive emotions and enhance your quality of life.


Frequently Asked Questions:

What advice is normally given to parents with an in utero diagnosis? 
It is recommended that delivery occur in a hospital with a Newborn Intensive Care unit that can handle potential problems. Education for parents can occur when they are ready so they can be prepared for what may be necessary for the baby at delivery. Parents should be reminded that they did nothing wrong to have this chromosomal abnormality occur.

What would you say are potentially the biggest complications or hurdles for an infant or child diagnosed with TS?
For the infant, heart and kidney malformations as well as ear infections are the most problematic.  As the child ages, hurdles change to school and social issues. Dental, hearing and pubertal development problems are challenging.  Frequent physician appointments are frightening and fear of the unknown at each new visit can cause tension.

What are some tools that can help me share the diagnosis with the medical team?

  • Karyotype
  • Clinical Guidelines
  • Physician records
  • Individual & family history

Are parents encouraged to address their daughter’s likely infertility at a young age?
This depends on the culture in which they exist.  In some cultures, this issue will be brought forth earlier than others.  This is an issue that need not be addressed too young, but if it is addressed by the young girl, then truthful answers need to be provided.  It is usually not helpful to bring up the subject early if it has not been problematic for the young girl since they do not need additional worries.

Some women with TS may naturally conceive, but most do not.  Is any particular route to parenthood recommended over others:
Invitrofertilization – IVF?
Donor ova?
Adoption?
Why or why not?

In most cases, pregnancy is not recommended due to the risk to the mother. The increased blood volume incurred in pregnancy heightens the risk of aortic dissection in the mother. This can be fatal so the risk is great. Successful pregnancies have occurred via IVF with careful follow up with the reproductive specialists. Adoption offers the least risk to the mother.

Are there any circumstances in which pregnancy is contraindicated?
Heart issues, as mentioned above, as well as kidney provide a contraindication for pregnancy.

Anecdotal evidence found on the internet suggests that women with TS can and do get pregnant via a variety of methods.   Does maternal risk increase with age?
If heart/aortic problems exist or have become more evident, the risk certainly increases.  Weight gain, prior to pregnancy, can also be problematic since many TS ladies have difficulty maintaining a healthy weight.  If other factors have been adequately treated, i.e. hypothyroidism, calcium issues, etc., the risks would increase equally to those without TS.


Registry-2Join the TSF Patient and Caregiver Contact Registry to receive a welcome packet, share your concerns, and opt-in to receive information and news.


©2017 Turner Syndrome Foundation

Turner Syndrome Foundation

Turner Syndrome Foundation

X