Turner Syndrome Support Group
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. In Turner syndrome, female sexual characteristics are present but underdeveloped.
Hi everyone. I was just diagnosed with Turner's syndrome at age 30. Not not mosaic regular 45x turners. I had always had issues since birth, was always little, had a heart problem at birth, and freckles that just wont stop coming. At the age normal girls were getting there monthly visitor mine never came. I was always told not to worry since I had a grandmother who did not have it until she was 19. I always had bad migraines as a kid, restless leg syndrome, and a lot of trouble fitting in with my peers. At 20 I saw a gynecologist who said my problems were due to hypothyroidism and low estrogen, so he treated this. I have always gotten sick very easy and after a bad problem with right side pain was sent for internal ultrasounds, x-rays etc... So this past year my doctor finally sent me to and endo. My family doctor always said my numerous symptoms were not connected if was just maybe a birth defect. The fact I am 5'3" and look totally like a non-turner's patient didn't help. The first time the endo met me he said no way you have Turner's or lupus (which was the other suspected cause), and left it at that after doing a few blood tests and sent me home with a follow up appointment. After doing some more research I went back to the follow up and said look something is going on here this has to be connected I think it must be mosaic Turner's. he finally agreed to do genetic testing. At my next appointment I was diagnosed with Turner's. Right now I am still coming to terms with this I was never given any extra help as a kid or the luxury of anyone going easy on me because of my condition, teachers, peers, parents, bosses. I always new I was different at least now I know why. I am taking hormone replacement, thyroid medication, anti-dep., and iron to control the symptoms, but due to late diagnosis its hard to forget all the hard times I went through. No one believing me when I was ill, doctors thinking I was some kind of hypochondriac. I have never dated much I am very uncomfortable with myself and it is something I wish I could get over. Has anyone else out there been through this or am I some kind of fluke? I'm blessed I guess to have gotten as tall as I am things could have been a lot worse.
Sign 1: My mom's AFP results were higher than normal during pregnancy. My parents were told that this could be because of neural tube defects such as spina bifida or hydrocephalus etc. They were worried, but decided not to go through amniocentesis because of the risks and because of their conviction to love any child that God would send them. My mom's early pregnancy was also quite difficult with me-whether this was her body trying to miscarry or not, we don't know and likely never will know.
Sign 2: When I was born, the first thing the nurse said was "My, what big feet". Again, we can't be sure, but it's quite possible that this was mild lymphodema, as my feet have been normal size ever since...
Sign 3: I failed my one-minute and five-minute APGAR scores. In fact, the only thing that I passed the first time around was that I had a pulse! (My score was 2)
Sign 4: Increased fussiness and anxiety as a baby-ex, HATED most baby sitters. This was a completely different personality than my sister. Also had some degree of colic that was definitely stomach related as helping with stomach things lessened my distress.
Sign 5: My growth was normal for a few months, and then sharply declined. When I hit one year of age, I was only 16 pounds-just over doubling my birth weight of 7lb, 6oz. (Normal is to approximately triple birth weight)
Sign 6: I had a terrible time transitioning over to solid food. It eventually happened, but wasn't until about 9 or 10 months that I would even TOUCH something...and then it had to be sweet (like fruit).
Sign 7: Completely fell off the growth charts by a year of age, both height and weight. Never got back on them. This alone should have prompted further investigation.
Sign 8: Horrible sleeper all through childhood...even into adolesence, until I started on seroquel for a different reason. It's main side effect is drowsiness. Even now, on this medication, I will still have additional difficulties sleeping if there is a change-I took an increased dose but still could not fall asleep on an over-night bus trip for instance.
Sign 9: After basic baby milestones such as walking and crawling (which I hit normally), my gross motor skills have always been behind. This meant that I was horrible with sports despite my VERY best efforts and extra practice, learned to ride a bicycle (after a LOT of work) at age 8 instead of 5-6, and have never managed to learn to drive. This is a common feature.
Sign 10: Possibly some degree of non-verbal learning disorder. Social things have always been more difficult for me. I was much more comfortable with adults and/or older/younger children than many of my peer group. I just couldn't seem to fit in properly with those my own age outside of a very few select friends who appreciated me for who I was. I was shy as well, and had some of the features such as disliking word problems in math (my LEAST favourite part about math, word problems!-although I did pretty well in math, even took calculus), and having a very large vocabulary...and using it...being very good with spelling and writing and reading...
Sign 11: Ah, puberty. Yes, it happened...but it never seemed quite normal. I was on the slower end, at least in comparison to my friends, and my figure stayed relatively small. That much-hoped for puberty growth spurt NEVER happened, much to my intense disappointment. Irregular cycle was the name of the game, although I learned when it would be coming by how I felt physically and emotionally. I would bring this up each year with my family doctor but it was always blown off as "Oh, it'll settle down, you're just a teenager, it takes time". By 18 surely it should have settled down, but by that time I personally was blowing it off as "It's just me"...even though things just didn't feel right. I can't even explain how it just didn't feel right, but it just didn't.
Sign 12: Beginning in grade 8 when I was 13, things just didn't feel right with my heart. My gym teacher was concerned by my heart rates, especially knowing that I was indeed active, a healthy eater, and not by any means overweight. It was mentioned to my family doctor who finally took notice and did refer me to a pediatric cardiologist. Several tests were performed...EKG, stress test. However, they neglected to perform the test that would have diagnosed me...an echocardiogram. Thus, I was written off as a 'stress case'.
Sign 13: I developed mental health issues during my teenage years. I won't go into great detail, but it is still a daily issue, and has lead to a brief crisis hospitalization along with now more than two years working in outpatient groups and with a dietician in an ED treatment program. These are more common with a Turner's diagnosis.
Sign 14: In the fall of 2011, I began experiencing symptoms of increasing fatigue/exhaustion, problems eating (unrelated to ED), and difficulties breathing. This was during my 4th year in university and I delayed seeing my doctor, the main reason because I was afraid that she would just say "Oh, it's just stress". I delayed this until a fateful orchestra rehearsal on December 7th when an episode of tachycardia with severe difficulties breathing led to my hands losing circulation for several minutes. Due to the public nature of things, I was forced to (finally) take care of myself. After being put at the bottom of the triage list at urgent care (despite elevated pulse, blood pressure and clear difficulties breathing although not as bad by that point), the urgent care doctor had good hearing...and heard a heart murmur. From there, things sprang into action, I was seen by an internal medicine specialist less than two weeks later, finally got the much needed echocardiogram, had a pulmonary function test (which didn't show asthma, but did show...pecularities that have pretty much been ignored)...and found out that I wasn't crazy. I was born with a congenital heart defect-a bicuspid aortic valve. Although I'm told that the degree of regurgitation is too small to be causing all the symptoms I still have. After all these years of doctors ignoring my height, my internal medicine specialist took note that I was only 4'9 when the women in my family are 5'3 (a pretty significant difference). After more than 23 years of questions, my family and I finally had answers.
So far, Turner's has given me short stature, short forth and fifth metacarpal bones, a bicuspid aortic valve and aortic narrowing, some degree of visual-spatial issues, possible social/mental health issues, and menstrual irregularities. Other things that might be related include my slightly smaller bottom jaw, possibly thinner enamel, incredible near-sightedness, and childhood eczema. I don't yet know if my kidneys are affected, nor what my bone density is. I also don't know if I have any hearing loss or ear abnormalities.
It was a huge relief to finally get the diagnosis of mosaic Turner's syndrome. Although I was also annoyed. Actually, annoyed and mad. Truly, this should have been looked into when I was a TODDLER! Falling through the cracks and being written off as a stress case is not fun...
It was a little unsettling for the first two years, I think a lot of that is as it wasn't particularly well delievered as a diagnosis from the Dr.
And now I'm 31 and sometimes I have deep feelings of TS not making any sense to me at all as a person....denial I suppose to a degree but really more about how it just doesn't change who you are and what life has in store when you realize a specific diagnosis (except all the questions and Dr visits).