Tuesday, December 9, 2014

Turner Syndrome



So, this page is usually used to update everyone on the status of my husband's stage 4 melanoma.  Today, I am using the blog to update everyone on my 13 year old daughter, Sadie's new diagnoses.

In June of this year, Sadie went to her primary pediatrician for a well child visit to get a form filled out for camp.  Her pediatrician, Dr. Aisha Chaudhary with Bay Area Pediatrics was concerned because Sadie's percentile in height had dropped from the 50-60th percentile that it had been most/all of her life to suddenly in the 2nd percentile.  Dr. Chaudhary said she was going to run some tests, especially to look for something wrong with her thyroid as thyroid problems could cause a decline in growth.  I asked her to also check her for a genetic mutation that I carry to see if Sadie also had it.  Test results showed Sadie to be hypothyroid and also she tested homozygous (a copy from mom and dad) for the MTHFR c677t mutation.  Because of these two issues, she referred Sadie to a pediatric endocrinologist and also a genetic doctor.

After meeting with the endocrinologist, he re-ran the thyroid labs and said her results were normal.  We talked to the genetics doctor and he was also concerned with her height.  Based on the height of her father and myself, she should be about 5'3".  He said he was going to run one test.  He said it was unlikely that it would come back abnormal, but was worth checking.

That appointment was in late October.  To be quite honest, I am usually VERY impatient for ANY type of test results, but I honestly forgot about these.  I forgot about them until last Monday, December 1, 2014.  About 6:30 pm her genetics doctor called me and said he wanted to discuss the lab results.  I knew that obviously he didn't call because they were normal!  He made an appointment for me us to come in on December 9th to discuss in detail the results.  There was nooooo way he was getting off the phone without giving me more information.  He gave me very little details but mentioned "Turner Syndrome".  That was enough for me.  I got off the phone and immediately went a Googling! BAD!  Within 30 seconds I was in tears.  The one thing I read on every page was that girls with Turner Syndrome are infertile.  How in the world would I tell my 13 year old daughter that she can not have a baby?!?  How can she comprehend this information?  Fine, I won't tell her till she is 18 or 19!!  Wait, I can't withhold this information from her!!!  These thoughts all crossed my mind in the matter of seconds.

Thankfully, I had my monthly Bunco group at 7.  I was thankful these ladies let me spill everything to them and get out some more tears.  I spent the next week researching Turner Syndrome, joining Facebook support groups, asking questions, etc.

Here are some things I learned......

What is Turner Syndrome?  Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.
Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.
Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.


How Common is Turner Syndrome?   This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).  About 99% on women who are pregnant with a baby with Turner Syndrome miscarry or deliver a still born baby. 

Today we saw the doctor to get more information.  Set up future appointments and to share the information with Sadie.  All things considered, Sadie has taken things pretty well.  We have discussed other avenues of "having a baby" (adoption, fostering, donated egg, etc.) 

In a nutshell, humans have 23 pairs of chromosomes.  Most females are born with 23 pairs of "XX" chromosomes.  Females with Turner Syndrome have either 23 sets of only 1"X" chromosome (monosomy Turner Syndrome), 1 full set of "X" chromosomes and some "XX" chromosomes, and even more rare, 1 full set of "X" chromosomes and some "XXX" chromosomes.

When we do it, we do it big!!!  Sadie of course has the most rare form.  67% of her chromosomes only have 1 X and the other 33% have 3 X's.  This is called mosaic Turner Syndrome.  45,X/47,XXX monosomy X mosaic with triple X chromosome complement - to be exact.  While this form is the most rare, this form seems to have less complications (no visable features other than short stature, a small chance of conceiving, less heart problems, etc.)

Sadie had a bone age study today to see if her bones were already fused or if there was still time for her to grow.  If there was time for her to grow, she would be able to take human growth hormone to hopefully grow another inch or two (she is currently 4' 8").  Unfortunately, her doctor called this evening and her bones have already fused so she will not be able to take human growth hormone.  She is 99% most likely finished growing on her own so will stay 4' 8".

Common risks are hypothyroidism, heart abnormalities, kidney abnormalities, and infertility.

Sadie has upcoming appointments with her new endocrinologist, her new cardiologist, more blood work, a MRI of her heart, an ultrasound of her kidneys, and a pelvic ultrasound.  We will hopefully have a better picture of future issues after these appointments and tests, although she will have to be monitored several times a year even if there are no current issues. 







20 comments:

  1. My heart goes out to you and your family! I recently came across your blog as I am a Melanoma Stage 3b survivor and recently finished 2 surgeries, 15 biopsies, and 54 weeks of Interferon. Fighting cancer is challenging enough, but as a mother of a 2-and 3-year old, having your child diagnosed with something rare and life changing is a whole different ballgame! Thank you for sharing your story, your honesty and willingness to bare your vulnerable side. We will keep you and your family in our prayers and pray for abundant blessings! I pray this is just an unexpected detour in life that lead to wonderful new opportunities and experiences you wouldn't have discovered otherwise. Much love to you on this journey.

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    1. Thank you so much for your kind words! I am so happy to hear you are SURVIVING stage 3 melanoma!!!!

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  2. Jennifer, am so sorry to hear about Sadie's diagnosis. Sounds like she is getting excellent care. I love her, and am here for her. Am praying for her.
    Sue

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  3. I have been thinking about this all night. We all face adversity to varying degrees. Why some more than others? We all have our beliefs, but in reality, nobody really knows. I do know that adversity can be overcome. I have no doubt that your sweet girl will overcome this. I am praying for your family. Merry Christmas. I hope you guys have happy holidays.

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    1. Thank you!!! Merry Christmas to you and yours, Josh. You guys are never far from my thoughts!

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  4. I'm so sorry to hear this!! A distant family member of mine has Turner Syndrome & she has gone through years of struggles & pain. She is in college now. It is so sad. Sadie will be in my prayers.

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    1. Thanks, Stacey. I am hoping that Sadie does not have too many struggles and/or pain. Up until this point, her only symptom is being short. I hope it stays that way!

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  5. Hello Jennifer,
    You don't know me, but a friend commented on your post on Facebook. My 32-year-old daughter, Katy, has Turner Syndrome. She is a special-ed teacher and is currently 7+ months pregnant (in-vitro with donor egg) with her first child. With the support of her family and some hard work, she'll be just fine. In-vitro may or may not work for her depending on her unique Turner manifestation (each Turner girl/woman has different characteristics -- some have no uterus). I remember when I was told Katy has Turner Syndrome. I, too, was devastated. There is hope. You'll be in my thoughts, and if you need encouragement both Katy and I are at your disposal (friend me on Facebook if you want personal contact). Cheryl Drachman

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    1. Thank you, Cheryl! I am going to friend request you!

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  6. Oh Jennifer. I'm so sorry. I'll be praying that the rest of the tests come back with hopeful results and that her short stature and possible hypothyroidism are the only manifestations of her syndrome. She's such a special girl and I know God has special plans for her on this Earth. I pray that she has a happy, healthy, and fulfilling life. I'm so amazed by how you and Steven maintain a positive attitude and a determination to live life to its fullest, no matter what challenges come your way. I'm so blessed to know you and call you family.

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  7. So sorry to hear this news. We will pray that Sadie has no other issues with this except her being a little short. She is a beautiful girl with a great smile and happy spirit and we love her so much. Please give her a big hug and kiss from Uncle Tim. May God bless all of you! Love, Uncle Tim

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  8. Remain steadfast in the face of temptation. Remember, cancer is the one form of human trials. If we can deal with it means we are winning.

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  9. Glad to hear the great news of Steve's NED-20 months!! Love the cute pictures of the girls--they are growing up sooo fast!! We will continue to pray for Sadie and Steve.
    God is good, all the time. We love you all--hugs and kisses from Uncle Tim.

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  10. You told your bunco group before your own daughter? Thats fucked up.

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  11. Thanks for your concern! My Bunco group consists of my neighbors/friends and yes I absolutely leaned on them for support when I learned of the news!

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  12. Jennifer:

    Thank you for sharing your story. My 13 year old was just diagnosed with MTS and I can't seem to find too much information relative to her particular situation. I'm wondering how open you might be to corresponding outside your blog as I'd love to hear how Sadie is doing and I have so many questions that are not addressed anywhere online.

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  13. Hi Buttercup! Do you have a Facebook account? If so, there is a link to the right of the page with my Facebook info....click there and send me a message and/or email me at jennifer23martin@gmail.com

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