What should I expect?

Once you have the diagnosis of Turner syndrome what should you expect?.

Each story is very different,  I can only draw from personal experience with this, the first part is of course being karyotyped through amniocenteses or bloods to confirm TS.

Growing up I went through 6 monthly checks where I was weighed, measured, had my blood pressure taken, had blood tests and saw the endocrinologist. They commenced growth hormone daily in the form of injections around the age of 14 I then started oestrogen for hormone replacement (which over the years has been adapted and changed to better suit me) this encourages normal puberty. At this stage my appointments stretched to begin being yearly checks. during these visits I had heart scans, bone density scans, kidney ultrasounds and any other checks as needed depending on how many other health concerns you may have.

As a child I had a home visit with a dietitian involved with TS who conducted research on textures of foods with ts girls. which my mums philosophy is to help others out there, I attended conferences and a summer camp where you can meet others and find out information and was put in touch with other families through support groups.

I had surgery for grommets on numerous occasions and tonsils removed remaining under Ear nose and Throat specialist for hearing screens to monitor my hearing other than this I have had a normal healthy childhood.

As an adult I have had yearly checks and been under a gynecologist and endocrinologist joint clinic allowing me to discuss ts related issues and also be involved in discussing fertility options. During this I get weighed, measured have my blood pressure taken, talk with a part of the endocrinologist team and have bloods. If necessary I have scans or test to check there is no changes as mapped out in the TS checklist in the FAQ.

Other than these checks I have had no effect I went through school with 11 GCSE’s A-C, I passed college with Distinction Distinction Merit and have passed University for a Qualified Nurse. I have had a normal adult life to date with minimal disruption.

I would add that there are many conditions that can run alongside TS such as heart and kidney problems, Coeliacs, more prone to Diabetes, Autism, Learning needs and others. These are not in every case they may require follow ups or support that you will then be linked with but it is closely monitored in clinics to get the help as and when they arise they are not directly related to TS  and it doesn’t mean that every girl suffers with everything.