After Diagnosis

Coming to Terms after the diagnosis of Turner Syndrome

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.

Tina Talks Turner’s is a video and interactive companion book designed to help caregivers share a diagnosis with a young girl. Use this tool to help her come to terms in a child-friendly, positive way. 

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.

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. Order the Patient Handbook on Turner Syndrome

Stay Positive!

Your experiences affect 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 well after the diagnosis of Turner Syndrome.

Frequently Asked Questions:

What advice is normally given to parents with an in-utero diagnosis of Turner Syndrome? 

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 news after a 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:

In-vitro fertilization – 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.

Learn from Leisa Jenkins, mother of a girl who has Turner Syndrome, what she has learned about parenting a child with TS.

View the webinar.

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