My Life's Journey/Living With Turner Syndrome

    I have a chromosomal disorder (not a disease!) called Turner Syndrome (TS). It was named after Dr. Henry Turner, who noticed in 1938 that some of his female patients shared some similar features.  In 1959 (the year I was born, as it so happens!), it was discovered that TS was due to a chromosomal disorder.  The cause of the chromosomal anomaly is still unknown.



    Among the features of TS, the most noticeable being shortness of stature are:  edema (swelling) of the feet and hands, cystic hygroma (cyst on the neck), webbed neck, shield (flat, broad) chest, turned up finger/toe nails, cubitus valgus (elbows turn out), strabismus (straying) of the eyes.  It can affect the heart, ears, eyes, kidney, and thyroid.  We have a tendency to be overweight and are prone to diabetes, high blood pressure, and stomach/digestive problems.  We generally do not have spontaneous periods due to having either no ovaries or streak ovaries, so we need to take estrogen and progesterone to develop physically.  As for our height, if diagnosed soon enough (I wasn't), we can get to the short side of the average spectrum (5'2" or so) with growth hormones (gh).  Since I did not get gh, I am only 4' 6".  The norm without gh is 4' 8".  We can have visual/spatial problems and Non-Verbal Learning Disorders (NVLD).  We can have problems with driving and math and have social interaction issues. We can miss social cues.  The good news is that the learning difficulties can be overcome with extra tutoring, and our health issues monitored and controlled!  We can also get help for our social issues  :-)



    I am one of the fortunate 1 to 2 per cent of TS girls who survived to birth (1 in 2000 girls have TS).  They believe that 10 per cent of all miscarriages are due to TS.

    I was born with edema of the feet, and almost died when I was 11 months old.  They figured out that I had kidney issues, and when I was 15 months old, they removed my left kidney and worked on my right kidney, which did not fully develop.  I have a large scar on my right side due to that surgery, and felt awkward wearing 2-piece bathing suits.

   

    My right eye strays, and I have had 3 operations on it.  The first time, my eye was turning in toward the nose, and they straightened it.  The second time, it started turning out.  They straightened it again.  The third time, it started turning in again.  So I went up to Washington, D. C. twice to the Children's Hospital (the first time to meet the doctor and let him look at my eye and the second time to have the operation).  The dr. partially paralyzed the eye muscle.  My right eye still strays when I get tired.  I had a hysterectomy in 1998 and back surgery in 2007.  I have arthritis in my back and various other aches and pains.  I was always getting earaches when I was a child, and it was due to my Eustachian tube being so small and it would get blocked.  It has affected my hearing and I use hearing aids.



    Growing up, I was awkward and didn't feel like I belonged anywhere and it was hard to make friends and I didn't know why.  When I was a teenager in the 1970s, I was diagnosed with TS.  Basically all we were told that it meant that I couldn't have children.  It broke my heart to hear that.  (With medical know-how (IVF), TS women can now get pregnant.  There have been women with TS who have gotten pregnant and had children naturally (their ovaries worked).  Guys never asked me out.  I guess they thought of me as just a little girl.  I got really bummed out because there were guys I had crushes on, but they never thought of me as dating material.

    When I was in my 20s, I met someone through a mutual acquaintance and we got married.  It only lasted about a year and a half.  I was single for about 4 years and I was working at the Charleston Naval Shipyard when I started dating a guy that worked there.  We went out for about a month and a half, and the day before my birthday in 1991 he dumped me.  He wanted to reunite with his former girlfriend.

    On my birthday, I got an internal Shipyard e-mail (back in the dinosaur days of e-mail - didn't have a computer at home back then) from a girl, Debbie, who had worked down the hall from me.  She didn't work down the hall from me any more due to our jobs being abolished as part of the Reduction-In-Force (in preparation for the eventual Shipyard closure of 1996) and we had been moved to other jobs.

    Debbie wrote me a very nice e-mail wishing me a happy birthday.  It was really busy that day, and I didn't have a chance to write her back or call her.  She called me later to see if I got the e-mail and I told her I was bummed because I had gotten dumped the day before.  She said 'why don't you meet my brother?'  So I gave her my home phone # and he called me that night.  We talked and decided we wanted to meet in person.  We started going out, and a year to the day that I got dumped (the day before my birthday), we got married in 1992 and celebrated our 21st anniversary in November 2013!  I am thankful for having made it this 54 years on earth.  It's been an overall good life.  I have a lot of blessings in my life.

    Pete is very good to me, he is understanding of my health problems and supports me in every way.  I love him more than I can say!  He is the best husband anyone could ever have!  I know in this day and age I am very fortunate that I can be home, and don't have to worry about taking time off for doctor appointments or if I have a health issue.  A lot of TS women have high-flying careers, a lot of us are married.  Some have children.  We have normal lives!  Pete has to travel sometimes, and I have 3 furbabies for companions.  They keep me company.  Abby is a little ball of energy.  She is a West Highland White Terrier (Westie - the little white dog in the Cesar dog food commercials).  Bonzi is tortie colored and about 17 lbs.  She's not very social, she's a one-person cat and I am her person!  Shadow is black and white.  She is pretty vocal when she wants something!  She has some lameness and we put her up on the little table with the cat food when she lets us know she wants up.

    Also my girlfriend/niece-in-law Sharla visits and helps me while Pete's gone.  We also go out to the movies, and one time we went to the stage show The Jersey Boys and we have been to a local garden which had been a plantation. There are no words for how much I love her and how much she means to me!  We have had some fun times together and she is ALWAYS there for me!  :-)  And of course I love her hubby Derek (our nephew) and sons Jonathan and Brandon!  She has 4 cats and 2 dogs, so we have love of animals in common.  We both also love movies and reading.

    Back to the Turner Syndrome:  In 1994, I was 35 and had decided to switch gynecologists.  I was going to the Endocrinology Department at the Medical University of South Carolina (MUSC) and decided I didn't want to make that commute any more.  I found a dr. a lot nearer and have been going to him ever since.

    While I was getting ready to leave my first appointment with this doctor that November, a lady (Tammy) came up to me and said "you have Turner Syndrome, don't you"?!  I said yes.  Her younger daughter, who was 6 at the time, also has Turner Syndrome.  She told me that there was going to be a meeting of the Turner Syndrome Society (I didn't know there was one!) and she would let me know more about it if I was interested.  I gave her my contact info, but I neglected to get hers.

    I hadn't heard anything from her and wondered what happened.  Around Christmastime, there was a knock at the front door.  It was the lady who lived two doors down from us (Yvonne), and she gave me a flyer that said there would be a seminar on TS one morning in January 1995 at MUSC and that night would be the first meeting of the Palmetto Chapter of the Turner Syndrome Society Of The US (TSSUS).

    Coincidentally, Tammy and Yvonne are friends, and Yvonne had told Tammy that she thought her neighbor 2 doors down had TS, like Tammy's daughter.  When she saw my address, she knew I was the woman that Yvonne had told her about!  Tammy got Yvonne to bring the flyer to me.  Small world  :-)  Yvonne and her husband and 4 kids moved back to their home state, but I am still in touch with them thru Facebook, and year before last they came down here and visited.  It was great to see them in person again!  I also am still in touch with Tammy and her two daughters!

    I also met a very dear friend (Robin) at that first TSSUS meeting!  She doesn't live in my town, but she comes up and visits and we have good times!   It's a tradition for us to go to the Festival of Lights at Christmastime!  I can't believe it's been almost 20 years since we met and became friends  :-)

    Through the TSSUS, I found out more about TS than I had known the first 35 years of my life!  I connected a lot of things:  my hearing problems, reasons for eye surgery, kidney problems, issues with math, driving, and socialization, even my upturned fingernails to my Turner Syndrome.  This article really helped explain things to me (with the aid of a medical dictionary):  http://press.endocrine.org/doi/full/10.1210/jcem.86.7.7683

    In 2011, my vision got blurry, I couldn't focus.  I got dizzy and sick (a lot, Pete didn't realize how much).  In the morning of Friday, December 23rd, Pete called to check on me and I was not coherent when I answered the phone.  He immediately took off work and came home.  He helped me into my clothes (I don't remember that or him getting me into the truck) and took me to the ER at the medical center about 10 minutes away from us.

    They got me stabilized and put me in the ambulance to take me to the main hospital affiliated with the medical center.  That is the first thing I remember from that day, is being put into the ambulance.  It was the first time I had ever been in an ambulance.  They put me in ICU when I got to the hospital.  The next day, Saturday, December 24th, they gave me a dialysis treatment.  My only kidney was failing.  On Christmas Day they moved me to a regular room (Merry Christmas!).  Every day the nephrologist (renal dr.) checked my creatinine levels.  Every day they were good.  On Friday, December 30th, I was released without needing any more dialysis treatments!  I know how fortunate I am for that.

    I had been going ever since I remember to a urologist, but I was never told I might need a nephrologist.  After my hospitalization I went to the same nephrologist who saw me in the hospital until he released me.  Normal creatinine levels are 0.5 to 0.8 or so.  When Pete took me to the ER, it was 13!  I was WAY off.  But I know who I need to call if I think things are going wrong again.  My system got overwhelmed by the medicines I was on, and that made me sick and dehydrated, which sped up the kidney failure.

    It took a few months for me to start feeling right again, and for a short while I felt really well, better than I have in eons.  Then I started having really bad pains and a rash kind of thing.  I went to my primary care doctor, and the minute they saw it, they said I have the shingles (re-activated chicken pox virus).  It took me a month or two to get over that.  I believe that the trauma to my system with my kidney failure re-started the virus.  The 1st half of 2012 was pretty rough.

    I really wish we had the knowledge and technology back in the 1970s when I was diagnosed that we do now.  It would have been great to have all of the information we do now about TS, and the technology to network with each other (Facebook, Skype, Twitter, etc.).   I didn't meet another person with TS until I was 17 years old.  Now I have many beautiful, smart, talented TS sistas from all over the world via the wonder of the internet!  It would have helped my parents and me to understand my TS a lot better, and a lot sooner.  I could have gotten help with my math problems, and understood my social issues and overall, just been able to cope better if I knew then all the things that I know now.

    To summarize, I have TS but it doesn't have me.  I have medical issues (a lot of people do!) and good days and bad days (same as everyone!), but I have family and friends who love and support me and TS has made me who I am today.  I would advise any pregnant woman whose baby has been diagnosed with TS or a woman whose daughter has been diagnosed post-natally with TS to not be scared.  We girls/women with TS have our challenges, but we are strong, we can live normal, active, healthy, happy lives.  A lot of TS women even go into the medical field, I know some who became pediatric endocrinologists to help sistas with their diagnoses!  We can do anything we aim for, don't listen to the doctors who tell you we can never accomplish anything.  More than one of my TS sisters' parents were told horror stories:  that we would never walk, speak, be able to learn, etc.  It is NOT TRUE!!