Turner Syndrome

Join the Conversation on
Turner Syndrome
236 people
0 stories
21 posts
  • About Turner Syndrome
  • Note: The hashtags you follow are publicly viewable on your profile; you can change this at any time.
  • Explore Our Newsletters
  • What's New in Turner Syndrome
    All
    Stories
    Posts
    Videos
    Latest
    Trending
    Community Voices

    First Post!!

    Welcome to the Turners Syndrome group. This is a group for girls and women who have Turners Syndrome and who are parents of Turners Syndrome. I was diagnosed at the age 10 but was not told by my parents until the age of 12. After I was able to choose what treatments to do like hormone therapies and other tests. I have low risk Turners Syndrome which includes short stature and the possibility of infertility. I have created this group because I have always struggled with my self image and want to be able to help others who are also struggling with their self image because we are all beautiful even if we look a little bit different. #TurnerSyndrome #Turner

    The Joys and Fears of Parenting a Daughter With Turner Syndrome

    February is Turner Syndrome Awareness Month. Here is our story. My daughter has Turner syndrome (TS) which is a non-inheritable genetic disorder that affects one out of 2000 females. Some of the symptoms include short stature, ear problems, auto-immune disorders, and heart defects. This is what Turner syndrome has meant for our family. 1996 My 6-week-old daughter is lying unconscious on a hospital bed. The single bed dwarfs her while wires and tubes are connected to many parts of her body. Medical equipment lines the wall behind her bed measuring her heart rate, oxygen levels, pulse, urine output and more. Alarms go off constantly while the nurse dedicated to her care turns them off. A large vertical bandage on her chest covers the new incision from her open-heart surgery. Her only other piece of clothing is a diaper. Her tiny body is swollen and hard to look at. I am sitting by her bed, grief-stricken and trying to hold myself together. Family members come to support me, but they are dazed and speechless. I end up consoling them. The hours by her bedside have taken their toll; I am exhausted from worry. Eight days post-surgery, my husband and I are headed home and terrified that she is going to die on us. Three years later, she is diagnosed with Turner syndrome and we find out her heart issues and her slow growth are related. The TS diagnosis answered the question of why she wasn’t growing but brought up so many more. We begin the journey of 12-plus specialists and endless doctor’s appointments. She begins a regimen of daily growth hormone shots for the next 13 years. Early on, all three kids get a treat during Nicole’s shot to keep them all involved. She gets used to the shots fairly quickly and by 9 years old, she is giving herself the shot. Diagnosis After Diagnosis My daughter seemed to have a new health concern every year: tubes, tonsillectomy, celiac disease, enlarged aorta, Crohn’s disease and more. Because her numerous ear infections could result in hearing loss, she had tubes put in three times over her childhood. She recovered quickly from her tube surgeries as well as her tonsillectomy. When she was diagnosed with celiac disease, it changed the way our entire family ate; it took months to learn what she could and could not eat. When she was diagnosed with an enlarged aorta at 9 years old, she was heartbroken when she had to quit gymnastics. We had to monitor her sports participation after that diagnosis. Her Crohn’s diagnosis brought new symptoms, medications and doctors. Early on, I found the Turner Syndrome Society of the United States (TSSUS), a patient advocacy organization. Between TSSUS and a Yahoo group email (now Facebook Groups), I found support and friends who understood the unique challenges of raising a daughter with TS. I became an advocate for TS serving on the Board of Directors of TSSUS. We also took family vacations to the TSSUS’s Annual Education Conference to places like Disney World, Seattle and North Carolina. They had activities for siblings and sessions for the girls and parents; I hoped it helped normalize TS in our lives. Turner syndrome, you took my healthy baby, my sense of security, my trust in doctors after the first cardiologist misdiagnosed her and so much more. The endless research and education, doctor’s appointments and constant worry took me away from my husband as well as all three kids. Turner syndrome, you gave me constant fear of what was next for my daughter, the daily stress of worrying that she could die of an aortic dissection, anxiety and more. I started taking anti-anxiety medications within a few weeks of her diagnosis and later sleeping pills to still my anxious mind. 2017 Twenty-one years later, the baby is now a young woman. The scene at the hospital is eerily similar to before, the tubes, the wires, and so much medical equipment. A vertical bandage covers her new open-heart surgery scar. Once they pull out the intubation tube, her scratchy voice asks if I am OK, which makes me cry. I am dazed and speechless. I soon realize she has taken on the role of reassuring and consoling her family. She goes home just four days after her open-heart surgery, and her recovery is amazing! She has never let her health problems keep her from achieving her dreams. Two years later, she has been accepted into medical school. Turner syndrome, I hate that you took my healthy baby, but I love the amazing young woman my daughter has become — a resilient, smart, beautiful daughter who is not only surviving but thriving in medical school.

    Raising a Daughter With Turner Syndrome

    February is Turner Syndrome Awareness Month. Here is our story. My daughter has Turner syndrome (TS) which is a non-inheritable genetic disorder that affects one out of 2000 females. Some of the symptoms include short stature, ear problems, autoimmune disorders and heart defects. This is what Turner syndrome has meant for our family. 1996 My 6-week-old daughter is lying unconscious on a hospital bed. The single bed dwarfs her while wires and tubes are connected to many parts of her body. Medical equipment lines the wall behind her bed measuring her heart rate, oxygen levels, pulse, urine output and more. Alarms go off constantly while the nurse dedicated to her care turns them off. A large vertical bandage on her chest covers the new incision from her open-heart surgery. Her only other piece of clothing is a diaper. Her tiny body is swollen and hard to look at. I am sitting by her bed struggling to hold myself together. Family members come to support me, but they are dazed and speechless. I end up consoling them. The hours by her bedside have taken their toll; I am exhausted from worry. Eight days post-surgery, my husband and I are headed home and terrified she is going to die on us. Three years later, she is diagnosed with Turner syndrome and we find out her heart issues and her slow growth are related. The TS diagnosis answered the question of why she wasn’t growing but brought up so many more. We begin the journey of 12-plus specialists and endless doctor’s appointments. She begins a regimen of daily growth hormone shots for the next 13 years. Early on, all three kids get a treat during Nicole’s shot to keep them all involved. She gets used to the shots fairly quickly and by 9 years old, she is giving herself the shot. Every new diagnosis brought more challenges My daughter seemed to have a new health concern every year from tubes, tonsillectomy, celiac disease, enlarged aorta, Crohn’s disease and more. Because her numerous ear infections could result in hearing loss, she had tubes put in three times over her childhood. She recovered quickly from her tube surgeries as well as her tonsillectomy. When she was diagnosed with celiac disease, it changed the way our entire family ate; it took months to learn what she could and could not eat. When she was diagnosed with an enlarged aorta at 9 years old, she was heartbroken when she had to quit gymnastics. We had to monitor her sports participation after that diagnosis. Her Crohn’s diagnosis brought new symptoms, medications and doctors. Early on, I found the Turner Syndrome Society of the United States (TSSUS), a patient advocacy organization. Between TSSUS and a Yahoo group email (now Facebook Groups), I found support and friends who understood the unique challenges of raising a daughter with TS. I became an advocate for TS serving on the Board of Directors of TSSUS. We also took family vacations to the TSSUS’s Annual Education Conference to places like Disney World, Seattle and North Carolina. They had activities for siblings and sessions for the girls and parents; I hoped it helped normalize TS in our lives. Turner syndrome, you took my healthy baby, sense of security, my trust in doctors after the first cardiologist misdiagnosed her and so much more. You took our family time and replaced it with medical appointments. Turner syndrome, you gave me constant fear of what was next for my daughter, the daily stress of worrying she could die of an aortic dissection, anxiety and more. I started taking anti-anxiety medications within a few weeks of her diagnosis and later sleeping pills to still my anxious mind. 2017 Twenty-one years later, the baby is now a young woman. The scene at the hospital is eerily similar to before, the tubes, the wires and so much medical equipment. A vertical bandage covers her new open-heart surgery scar. Once they pull out the intubation tube, her scratchy voice asks if I am OK, which makes me cry. I am dazed and speechless. I soon realize she has taken on the role of reassuring and consoling her family. She goes home just four days after her open-heart surgery, and her recovery is amazing! She has never let her health problems keep her from achieving her dreams. Two years later, she has been accepted into medical school. Turner syndrome, despite the struggles our family has endured because of you, I love the amazing young woman my daughter has become — a resilient, smart, beautiful daughter who is not only surviving but thriving.

    7 Signs You Need a Break From Caregiving

    I didn’t realize how much I needed a break until I had a nervous breakdown after my best friend died by suicide. What followed was endless PTSD symptoms such as feeling out of my body, physical pain, flashbacks, numbness and more. I learned the hard way that self-care needed to be a daily part of my life to recover. In my recovery, I have found a calling in sharing my path in hopes it can help other medical parents. Do you recognize when you need a break for a minute, an hour, a day or even a weekend? I found it very hard as a mother of a daughter with a genetic disorder to figure out when I needed a break. There were certainly times when my life felt out of control, but I didn’t have the right tools to do anything about it. 1. High Emotions Over the years, I’ve cried while on the phone with the insurance company and even the phone company. Much of my life felt out of control, so my frustration and emotions came out at the other person on the other end of the phone. I sincerely apologize to those people who didn’t deserve my tears or wrath. Of course, I cried at various doctors’ appointments over good and bad news through the years, but it was more acceptable to show emotions there. After my oldest started school, I did hire a babysitter to come over every Wednesday for two to three hours, so I could get out of the house. At first, I just sat at a coffee shop and stared at the wall. It took a few weeks to have the focus to pick up a book to read. That’s when I first realized I needed a break, but didn’t know what else to do. 2. How Can You Tell When You Need Self-Care? I have included responses from an online survey filled out by medical parents. They responded to the question, “How can you tell when you need self-care?” Darla, mom to Rollie with Down syndrome explains that she needs self-care when “Emotions are high and at the surface.” Katie, mom to Stella with Turner syndrome said, “When I grow extra impatient with my family.” Micah, mom to Annissa with Turner syndrome and cleft palate, replied, “When I feel completely overwhelmed and frustrated by the lack of answers.” 3. Yelling That always should have been a sign I was overly stressed. I have a tendency to yell when I am frustrated. Yvonne, mom to Sage with bipolar, OCD and Turner syndrome explained, “When every little thing makes me want to scream and yell, I know I need to take a step back.” 4. Mental Clarity At the beginning of my caregiving journey, I didn’t understand what the doctors were saying. I was in a post-partum depression and understandably upset. Luckily, that changed later, and I could understand what was going on. Stephanie, mom to Amy with TS, answered, “I start to mentally check out at the doctors since we see one nearly weekly.” 5. Anxiety I had my first panic attack after my daughter was diagnosed with her genetic disorder. I couldn’t breathe and I was terrified. Meditation and yoga have helped immensely. Colleen, mom to Claire who has Turner syndrome, said, “Working full-time and trying to fit in doctor appointments, meeting with teachers and other school professionals is exhausting. I never knew I had anxiety until my daughter entered school, and all my worlds started competing for my time. The increase in heart rate and trying to fight my tears is my trigger.” 6. Depression/Blah Days I always thought I had more anxiety than depression, but as I look back, I remember days where I didn’t feel like doing much of anything. I always explained that I was tired, but I was most likely depressed. Melissa, mom to Tyler with 1p36 deletion syndrome said, “I’m often in a rut, and would rather sit and do nothing, or sleep than any other activity. I call them my “blah days.” 7. Consumed by Worry This was pretty much how I lived for years — consumed by worry. It never helped my daughter and it certainly didn’t help my stress level, but it was hard to stop. When your child is sick, you will do anything to make her healthy regardless of your own well-being. Therese, mom to Brady with complex heart issues and multiple open-heart surgeries, explains, “I know I need self-care when I start becoming consumed with worry about Brady’s health as well as when I am not sleeping well, I become irritable and I am less optimistic.” Through daily breathwork, yoga and meditation, I can remain calm through most situations now. The keyword is every day. Of course, I have also done a lot of trauma work to get to a calmer place. So, before you start having breakdowns at school, the doctor or at home, start taking care of yourself — every day.

    Tips for Helping Parents Whose Child Is Chronically Sick

    Everyone feels bad when they hear about your child’s diagnosis. “Let me know how I can help,” they say. Honestly, they might not know how to help, and you may not know how they can help either. Here are some ideas you can share with them. 1. Give hugs, and often! 2. Leave some space. Let us vent without recourse. We need support. 3. Understand when we can’t make a scheduled event. Emergencies come up, so please know we would be there if we could! 4. Offer to take care of our other kids, or get them out of the hospital for a walk or meal. 5. Believe us when we talk about our child’s health concerns. It can be confusing to explain and to understand. 6. Offer to do errands if you can, whether in-person or online. 7. Bring a meal. Bring something that can be frozen if dinner is already planned. Having extra meals on hand is a lifesaver! 8. Better yet, organize meals with neighbors, family and friends. 9. Offer to watch our other children if you know we have an appointment coming up. 10. Ask us about our child when you see us. It may not be easy to listen to the challenges and difficulties, but it will help to know someone cares. 11. Offer to drive our other children to activities, especially if our children take part in the same things. 12. Continue to invite us to things, and try and be considerate of our child’s needs, especially if they have food allergies. Ask questions about the food allergy. If we have a get-together and want to keep the allergen out of the house, please don’t bring it with you. 13. Send flowers, a card, a text or a phone call. 14. Keep listening as the years go by. Having a child who has health issues can be exhausting and lonely. 15. Most importantly, try and show us unconditional love and caring. We need you and other supportive family and friends in our lives.

    Importance of Spirituality When Parenting a Medically Complex Child

    Like many people, I used to think that “spirituality” meant being religious, going to church every Sunday, Bible study, etc. I discovered it is so much more. Spirituality is about connecting with your own heart and soul, spending your time in the present moment and finding your life’s purpose. What do you want out of this life? What are your goals? What activities give you joy? What does this have to do with having a child with a complex medical condition? After your child was diagnosed with their health condition, your world was probably dominated by doctor’s appointments, therapy, medications, hospitalizations and more. Nothing seemed to make sense anymore and your stress skyrocketed. You probably forgot about many things you used to enjoy and lost yourself to care giving. (I know I did. I barely had time to think about what I wanted for breakfast!) The point is that you put all of your thoughts and energies into doing whatever you could to keep your child healthy and your needs ended up last. This works for a while, but I found that it does not work in the long run. Here are a few ideas to help keep your spiritually strong. Quiet Time in the Morning or Evening Make a big difference in your day by taking a few moments in the morning or at night to center yourself before the kids get up. Meditate or pray for a few minutes each morning. You don’t need to be an expert on meditation; just get comfortable in a chair or on the floor and listen to a meditation app. You can even download free apps such as Calm or Insight Timer. I can center myself now by doing six-count belly breathing for a few minutes. It has made a profound difference in my life. I also read every night because it helps calm my restless mind so I can get a good night’s sleep. I also do a daily yoga practice called sadhana which includes some simple spinal twists to help me get ready for the day. Others may run or do other forms of working out. The big idea here is to spend some time connecting with yourself. Do Something Every Day for Yourself This does not need to be expensive or time-consuming, but it is important to do it. It might be as simple as a phone call with a trusted friend. Other options include: Singing in the car Buying a cup of coffee at a coffee shop (Better yet, stay and drink it there!) Listening to a book in the car Buy yourself flowers Give yourself a compliment Stop for a treat for you and your child after a tough appointment What works for you? Connect with Nature These days the buzz word is “forest bathing,” but when I was a kid, our moms told us to go outside to get some fresh air. And if the sun is out, you have the extra benefit of getting some vitamin D. Fit it in with your busy schedule: Stop at a park and walk around for a fewminutes If you can step out of an appointment or therapy, head outside for a few minutes While waiting in the carpool line, roll your window down to get some fresh air Laughter The saying, “laughter is the best medicine” has never been truer! Even in my most stressful times, I have found laughter. When the doctors removed my daughter’s breathing tube after her last open-heart surgery, she croaks out that she had seen this procedure done at her job as a scribe in the emergency room. Her siblings and I burst out laughing! We could hardly understand her but were amused that these were some of her first words after surgery. How have you found laughter in your most stressful periods? During such a difficult time, taking care of your spiritual health is more important than ever, but it is usually the first thing to go. And you may not even realize it. Who can think about taking care of yourself when your child is diagnosed with a lifelong health condition? When your child is sick, you will do anything to make her healthy regardless of your well-being. I can tell you from personal experience that this exactly the time you need to look inward. I know I felt guilty if I took time for myself, but self-care is not indulgent. It is a necessity. What do you do to connect to your spirituality? Follow this journey on Natalie Bonfig’s website.

    18 Tips to Simplify This Holiday Season

    The holidays can be overwhelming, especially if you have a child with a chronic illness. Here are some things I do, and some I wish I would have done, to simplify the holidays. (Don’t forget to take more naps!) Make fewer doctor appointments and procedures if you can help it. Buy gifts year-round to save money and time. If you can, delay all non-important appointments throughout the holidays. (i.e. can your yearly appointment wait until the new year?) Take more naps. Take care of any health insurance or medicine changes before December so you’re not panicking at the end of the year. Spend time with your kids at home decorating the house, the tree, singing holiday songs and more. Every family does not need to go to the mall to shop or participate in other holiday traditions, especially if it is tough for your family. Cut back on gift-giving with friends…how about a lunch out instead? Forget about the perfect Christmas and do what you can. Be as prepared as you can for a health emergency. It is probably the hardest time of the year, but if you’re organized, you can make it easier for your family. Simplify gift-giving to your kids with the “four gift rules” with something they want, something they need, something to wear and something to read. Take more naps! Make cookie dough ahead of time and freeze it. It’s easy enough to make a dozen or so of freshly cookies quickly. Or just buy the pre-made dough! If someone offers to help your family in anyway, please take it!  Alternatively, if you are in desperate need of help, please ask! Make a bunch of dinners ahead of time and freeze them. Better yet, make or pick up prepared meals, designed to freeze and use when you’re ready. Take a break for a day for self-care. If you are the hostess-type, only have one of the major holiday dinners. Use recyclable paper plates from Thanksgiving through Christmas to make clean up easier. Take more naps!

    Finding Your Tribe After Your Child's Diagnosis

    They saved my life. Although we had just met, we all belonged to a club that no one wanted to join — parents of a child with a chronic health problem. These parents understood my fears about my daughter’s future because they had the same fears. They understood my anxiety that came from constant worries about my daughter’s health because they too, had similar worries. They understood the loneliness and grief I felt after my infant daughter was diagnosed with a congenital heart defect (CHD) because they had experienced the same feelings. These parents pulled me from a pit of despair. They were my tribe. Finding Support Early on, I found it was really important to surround myself with people who understood the seriousness of my daughter’s health issues as well as my own struggles. No one in my existing circle had faced a big health crisis similar to my daughter’s heart issues, and it was hard for them to understand. They did their best to support our family, but what I needed was to connect with parents whose child had the same sort of illness. I searched for my tribe and was fortunate to find more than one. I had an immediate bond with these new friends. They each had a different story, and yet it was similar to mine. We could discuss the hard parts of our journey, but we found time for laughter as well. 1. Online Support Groups When my daughter was diagnosed with her genetic disorder in 1999, there was not much support online. However, I found a Listserv (an application that distributes messages to subscribers on an electronic mailing list) of parents (mostly moms) who had a daughter with Turner syndrome (TS). Listserv allowed us to create a group discussion via email. I spent a couple of hours every day asking and answering questions about TS. It was an incredibly smart, creative group of women. They kept me sane, especially in the first couple of years after my daughter’s diagnosis. We talked about everything related to our daughters, the good and bad. We poured our hearts out. We shared our deepest fears that we didn’t tell many others. What would our daughter’s future hold? Would she have a “normal” life? Would she have a long life? All the things a parent of a child with a lifelong illness asks themselves. We discussed treatment options, the pros and cons. We shared our research. It felt like a college study group where one mom was an expert on one symptom, while another mom researched a different one. I am grateful for this group. It became a shelter of sorts from the storm of our daughters’ diagnoses. After 19 years, many of us from this Listserv are still friends to this day. 2. Facebook Online Support Groups Facebook (FB) is a very good example of a technology platform that makes it easy to join and participate in online support groups. These days, there are FB groups on just about every health condition and I belong to a number of them. They are especially useful if you don’t have the time, availability or inclination to attend a local support group. I spent a lot of my time in those early days on the computer almost every night after my kids went to bed. You can sit in the privacy of your own home and find support on your computer in your jammies! Check out a good number of them, some may be a better fit than others. If it is a closed or private group, you may need to send an email to an administrator to join. Unfortunately, there can be misinformation exchanged through online support groups. A good process is to cross-reference information you receive from a support group with information from a reputable site such as an official advocacy group, the clinical practice guidelines specific to your situation or Mayo Clinic. Since my daughter has the most serious heart issues associated with TS, other moms will tag me when someone has a question that is heart-related. I answer to the best of my knowledge and encourage them to talk to their daughter’s cardiologist. 3. In-Person Support Groups As my daughter was recovering from her first open-heart surgery, I found a newsletter in the family waiting room about a support group called Parents For Heart (PFH). I remember reading about a young woman, a heart surgery survivor, who had just gotten married. I burst into tears…happy tears! It was exactly the story I needed to read. Babies with heart defects do grow up and do typical things like getting married! I attended the PFH support group meetings for a number of years until my daughter was diagnosed with TS. It was wonderful to meet with other parents who understood what it was like raising a child with a heart condition. We had holiday parties with the kids, went to Major League baseball games and met for support every month. The group met at the local Children’s Hospital, and the Sibling Play Area volunteers watched our kids while we attended the meeting. Since I had two other kids, having a built-in babysitter made it that much easier. I had never been part of a support group, and it became a very important part of relieving my stress and anxiety. Whether you attend the meetings or just join them online, local support groups are great for connecting with other parents who live near you. There is nothing like meeting with another parent one-on-one who understands the challenges in your life. This can be a good time for your child to find new friends as well. 4. Advocacy Groups Almost immediately after my daughter was diagnosed, I found the Turner Syndrome Society of the United States (TSSUS) which is an advocacy group for those living with or loving someone with Turner syndrome. Advocacy groups are a great place to find out about events or fundraising associated with your child’s health issue. We’ve all seen the colored ribbons for awareness of certain health issues as well as dedicated awareness months. You can find lots of information about how to advocate on your own Facebook page, facts to share, local events and more. For example, February is Turner Syndrome Awareness Month. April is National Autism Awareness Month. May is Neurofibromatosis Awareness Month. And November is the National Diabetes Awareness Month (NDAM). Look online and find one associated with your child’s diagnosis. Advocacy websites have a ton of information. I’ve seen such an improvement on these sites over the years as well. In the beginning, the TSSUS website didn’t have nearly as much information available as it has today. That’s why so many of the moms I know became so good at research, we had to dig to get the correct information. 5. National Educational Conferences I have attended over 10 TSSUS Educational Conferences with or without my daughter because they were so informative. It was an opportunity to meet other parents who “got it,” no explanation needed. Parents would gather at the end of a long informative day to share what we learned and more importantly, to laugh! My daughter made some friends early on, and they would meet up at the conference every year. I called it the most expensive play date ever! At these conferences, I met many medical experts within the TS community. I also met some of the online moms in person at the TSSUS Educational Conferences for the first time. I felt like I was seeing a long-time friend. Those connections have lasted as our girls have grown up. Finding your tribe is the key to self-care as a caregiver. Every medical parent understands how finding your tribe is important to self-care. I have a long list of people I can contact if I need support. It is a list I refer to and often. For more articles on “Everyday Self-Care After Your Child’s Diagnosis,” sign up for my newsletter.

    Community Voices

    Hello

    <p>Hello</p>
    Community Voices

    when I was little


    when I was little I went to a lot of pediatricians and when I found a doctor in Las Vegas I went to sunshine valley pediatric my doctor was name doctor lura weidenflid she knew I had Turner syndrome and she diagnose me