We each have a different story - when we were diagnosed, what our specific Karyotypes are, how we deal with the syndrome, how those around us (if they even know) deal with it, and how it has affected us.
I'm hoping we'll build a sense of community, understanding, a place to laugh about the same things, talk about problems we face, and help each other. Being able to talk openly with others in the same situation can help us brainstorm for realistic, pragmatic solutions and is often exactly the support we need.
21 comments:
HI this is berny. I thank you for putting together this blog, I really didn't realize how many other people shared my matzav. My daughter was only diagnosed at age 8. From the time she was a baby I felt like something was just not right, she was always sick with ear infections, she needed tubes as well as her adenoids removed. She needed a ton of therapy she had low muscle tone, her speech was delayed etc..... With all this she was a regular functioning adorable toddler. But in the back of my mind I was never able to pinpoint what didn't feel right. At age five she started falling of the growth charts for her height. The pediatrician told me not to be concerned. When she was seven the pediatrician said you can go to an endicronolgist but I doubt anything is wrong. I strolled into the endicronologist assuming she would need growth hormone because she was probaly just lacking some in her system. When all the test came back normal she mentioned to me that she just wants to test her for Turners, I had no clue what that was and asked a few questions. I left the dr. office in shock but really assumed "my daughter" didnt have that. Ofcourse I went online and did all my research and got a little more concerned when I realized that my daughter did have some physical characterisitics mentioned. Her hairline in the back was very low, her ears were a little funny as mostly as she was growing I noticed her chest was looking a little strange (a shield like chest) Don't get me wrong if you bumped into my daughter on the block or in school she does not stand out, only if you were looking for these characteristics would you see them. I still remember the exact day and time I spoke with my doctor and she confirmed that it was Turners. I felt like the wind was knocked out of me. I called my husband hysterical and could barely talk.But with time it settles and you move on, but never stop worrying. thank you for giving me this space to share my journey.
Hi Berny! Thanks for joining. My daughter is 2 and half now. we found out she has TS a few days after she was born. (we also never heard of it before) The hospital she was born at did a karyotype automatically since they suspected she had a heart defect - which she did. She was already growth restricted in utero but we were praying she'd be ok. She was just 3.8 lb at birth & was tiny until we started her on growth hormones at a year & half. Now she is in the 10th percentile for height. She is actually going to be getting her 4th set of tubes next week - we also have the ear infections & tons of fluid build-up in her ears. This is also an issue since she was born - she didnt pass the newborn hearing screening. She also had open heart surgery a year ago to repair a hole in the heart - but still has a bicuspid aortic valve.
My daughters also received the therapies through early intervention as early as 3 months old. B"H she really caught up & is doing great now - she's actually been discharged from the e.i before turning 3 because she's above average with PT & speech.
Does your daughter understand what her condition is? did you share it with family / friends / school? How do you cope with the worries? keep me posted!
Simchas here. Glad that you started this discussion... Even though the world may look bleak now things will work out... People with Turners can live a very full and happy life even with some unique challanges. I am assuming C, that your daughter does not have a mosaic turners. Berny not sure about yours??
Hi its berny, yes my daughter has mosiac turners. Besides her very short stature she has a borderline high blood pressure, a very slight aeortic defect that has to be watched yearly. In regard to her future fertility there is no way to know at this point. When we found out they sent me for a sonogram to evaluate the state of her uterus and ovaries l and it was one of the worst experiences I had in the whole ts testing. We had an extremly inconsiderate technician who said she couldn't find her uterus, I was sitting there with tears rolling down my face trying to hide it from my daughter. At the end when I spoke to my doctor she explained that at age eight a uterus is small and that yes her uterus is under developed but with time we will know exactly what affect that wil have on her future. At that point I realized need to take it day by day and focus on helping her with her current issues and to stay sane not think too far ahead.
One of the hardest thing for me was not being able to share the diagnosis with people. By nature I like to share and talk about my worries and it makes you feel so isolated. Both sets of her grandparents know as well as one of my best friends otherwise family and friends are aware that she is having growth challenges without details. My daughter herself and her siblings are aware that Hashem has given her a challenge in her "growing" and that's why she has to take shots to help her grow. A few months ago when she was comparing her height with her brother who's 16 months younger she said "I know im short but that's the way Hashem made me and iym"h with my shots I am getting taller" she is not aware of her exact diagnosis. I will not hide it from her but I am waiting till she is of age to understand and then she will.decide who she wants to share it with. I hope we will still be visiting the blog when that time comes because I envision that day many times in my head. How to tell your daughter that everything a bas Yisroel dreams of getting married and starting a family is something that might not come so "automatic or easy" for her. I feel like my current goal is to raise a happy and confident daughter so when she is faced with the challenge of her diagnosis she will be able to see her mailos and not let her ts define her.
Benny so well said... your statement at the end hints to me that you are tuned in to what your daughter needs... diagnosed at age 10 (BH no cardiac or renal complications ) my parents felt that not discussing an exact diagnosis would be best... they waited until I was 20.. along the way I found out (pretty close to the beginning) and just never discussed it with anyone... I feel that finding out that late for the first time and "bursting the bubble" of the main dream and wish of every Bas Yisroel would not be easy to accept. BH reproductive technology is growing leaps and bounds every day. Just think that a few years ago there were no ovary transplants and now they are expanding the pool of possible candidates. As an older single armed with many Brachos we approach shidduchim with a positive attitude.
Simchas - my daughter a a mosaic form of full turners - she has part 45x, & part 46x isoXq. What's interesting is that most of her specialists comment that although they know she has TS, they still can't see it on her & definitely would have never suspected it if I hadn't said anything.
anon-your parents didn't tell you the exact diagnosis till 20? or they didn't say a thing & you picked it all up on your own? I'm really concerned about that - & what about your siblings? do they know now too? Do you feel that's beneficial?
I know what you're saying about every girls dream to build a home & it kills me when my daughter pretends plays she's pregnant & is a great mommy to her dolls. On one hand I want to enjoy the dreams every girl has - but I also don't want her to build any major fantasies about her future. I guess I'm in the same boat as berny- wanting to raise a happy & confident who will deal positively will her diagnosis.
I knew what was going on, the long term ramifications of the diagnosis ... those were not discussed... only "growing slowly" was... older siblings knew as well... I felt strongly about not telling siblings about all details until they had kids of their own... not conventional but parents were trying to allow me to be normal...
Hey.. this blog sounds amazing.. and btw c you seem to write well ;)!
If i go to the "siblings forum" it doesn't seem like there'll be many people there...yet!
My sister is the oldest.. this just makes things harder.. The one(s) born after are the ones we see as the "oldest"..
My parents NEVER discuss it! My sister herself knows about it, i think they explained it to her when she was 12. For us siblings - we never knew anything! Of course we could see she's different and we have to put up with it but until relatively recently the word "special needs" didn't ENTER their voc. and consequently ours.. Just "different" or "irregular".. i know she had a whole in her heart at birth (hey, i think that was by reading s/t that was def. not meant for me!) There was a write up about short people in the Family First last year sometime and there was an added box with "other reasons why a person may be short".. Well, i took the list, did some online research and finally had a name for my sister's "irregular" ..
Anon thanks so much for taking the time to join us and give us a perspective from a girls with ts. I am so conflicted about when to share the full diagnosis with my daughter I don't want her to feel deceived but I also want her to be old enough to comprehend the situation. When you look back now at what age or point of your life would you have wanted your parents to sit down and explain to you exactly what your diagnosis was? Berny
I wish I knew what to say...each person / situation varies... was I sometimes slightly upset when during a dr's visit I would be sent out so that the adults could talk when I knew exactly what was going on, yes. If I wouldnt have known anything I think that it would have been worse. Anyway at a certain age / stage you cant hide what is or isn't going on in a girls body from her... believe it or not she is in touch with her own body... The other aspect is personally and as a family ramping up and being OK with the situation for shidduchim. By that I mean there is a grieving process that goes on.. the loss of dreams, the difficulties... thsi includes the parents who guide a child through shiduchim... This can take a while and if the long term goal of being ready when your daughter is ready is kept in mind hopefully you will be able to hit the floor running in the right time in the best frame of mind... I am sure that your networking and efforts now will prove to be your best investment in making the best decisions for your daughter in the long run....
Don't forget dynamite comes in small packages....
Hey where are you people???
in terms of location or posting??? please clarify
In terms of posting!!! Location - now that would be something different all together ;) !!!!!
HI! I commend you all for dealing with what no one else can even begin to imagine dealing with it, and for having the bravery to come out and share it for other girls' benefit. I hope I can pass on the tremendous hope, simcha, boundless energy, acceptance, and emunah that I experienced about a year and a half ago. I dont want to share too many details so as not to disclose too much information that is not mine to share...but I'll try my best sharing as little information as possible.
Through my graduate school/clinical internships in the health sciences, I met a very energetic, happy person who was "G-d's gift" to all her patients. She came to her job with such a sincere desire to help and a real understanding of people. I did not know there was anything "up" with her, though I wondered for a few seconds at some point whether she was a dwarf or midget. Her patients would ask her if she was married, and she answered "I sure am!" (she wore a sheitel (wig) so I knew that already). When they asked if she had children, she simply said "not yet!" with that same hallmark enthusiasm. Oh, I think I forgot to mention - She had also successfully made it through a few years of graduate school! Something that even the run-of-the-mill people in my class are having trouble with!
A few months after I started my internship, genetic disorders came up in conversation during lunch...I mentioned that people with Turner's syndrome (which I had learned about in school...) may have learning difficulties. She defended people with Turners syndrome so vehemently, that I began to notice many of the other symptoms of TS that she had...and the rest is history. But that conversation only served to greatly increase my respect for her. I wish I had some way to contact her-she would undoubtedly bring major chizuk to this blog! But I hope that my talking about her has at least helped a little...To all of you out there: you too can daven as hard as she and her family must have, and reach great heights! Big things come in small packages, so aim to be that beautiful little diamond!
Thank you for taking the time to share such a beautiful story; it surely does bring chizuk to me. It just reinforces my belief that if we raise emotionally healthy and confident daughters we too will be able to reap the nachas of seeing our daughters married and raising families. (whether they actually can have their own children or thru other means)Berny
AMEN!
Be'ezras Hashem!!
Our daughter is a TS girl. We knew when my wife was pregnant that there was a problem due the webbed neck that was evident from the sonogram. At the time I was building the new building for Dor Yeshorim in Brooklyn. How beschert to be dealing with the leading expert on genetic diseases and illnesses. A very special person Rabbi Eckstein. I met with him one day to discuss the possibilities of a future for our child. At that time it would be either a girl with turners syndrome or a child with down syndrome. He gave us a brochah that she would be a brochah and everything would work out. Indeed it did. Chaya Brochah is a great work of art. She is one of very few, Frum, Jewish Turner's Syndrome girls out there and at 13 would like to meet with other frum TS girls. She is definitely a charm, talkative, sensitive and warm to friends and strangers alike. She was asking about such a site. Thirteen years ago I wasn't able to find a site albeit there are sites that are not Jewish in nature. Interesting, but we would like to keep her in a frum environment. All the best. Woodbourne, NY
To give any of you girls with TS or parents of TS girls some chizuk (I hope) - here is my story in brief....
Diagnosed with TS aged 12, took GH for 2-3 years in my teens but still small - about 145 cm final height. I am 40 years old, fit and healthy (though I have an underactive thyroid for which I take replacement thyroxine, no big deal). Have been married for over 13 years to a wonderful DH - have 2 adopted boys. In terms of career - have been working for 15 years as a doctor - and ended up specialising as a paediatrician. Currently working for one of the Kupot in J-m as we made aliya a few years ago.
Feel free to be in touch would love to give help and support - you CAN do it!!!!!
Looking to get in contact with families of turner syndrome girls.. can i be msged privately to give contact info?
This really cool I always wanted to meet other people with turner syndrome.
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