Emilia’s Entourage will be participating in our 3^rdannual walk as part of the Chasing Butterflies Walk for Turner Syndrome, put on by the Minnesota Chapter of the Turner Syndrome Society of the United States (TSSUS). Each year we have been overwhelmed with the tremendous outpouring of support from our friends and family for Turner syndrome, and especially the support and love for Emilia!! Asking for monetary donations is not something that makes us very comfortable… but for this cause, we can feel uncomfortable for a few months! Those touched with TS deserve it!!! Also – we would love to have you join our team and walk with us on Saturday, September 7^th from 11:00 – 1:00 at French Regional Park in Plymouth, MN. Your registration for the walk also is a donation to TSSUS!

Personal Journey and Celebration of Emilia

So I usually write about our journey with TS, but since it is year 3, most all of you who will actually look at this fundraising page already know our story…. So I will try to highlight updates on our journey this past year instead!

• Emilia turned 4 in February. She LOVES gymnastics and swimming and you’d think she was an Energizer bunny while participating in both! Constant smiling and excitement the ENTIRE time. She works hard, and when it is not her turn, she loudly, genuinely and enthusiastically encourages her peers!
• Emilia continues to maintain her growth on a standard growth chart! This is so very exciting as this means she continues to dodge the need for growth hormones (a shot every day which is a very common treatment needed for TS to maximize growth potential and strengthen bone).
• She has graduated to yearly urology follow-ups as her horseshoe kidney and hydronephrosis have remained stable!
• Emilia has a full-spine MRI scheduled in July to check up on her spinal cord and determine if her tight cord is in need of surgery. Fortunately, she has had no signs of a problem here, so we are hopeful!
• In June she followed up with her cardiologist with an ECHO, which gave us news we had hoped to avoid. Her congenital heart defect (which is common with TS – bicuspid aortic valve) – has been contributing to a “bulging effect” in her aortic arch that will need to be monitored every 6 months with an angiogram to closely measure for further growth. Ultimately – there could be surgery in the future to restrict this growth to avoid aneurism.
• She continues to be a trooper for her daily 2 hours of eye-patching to work to strengthen her right eye. She gets a LOT of compliments on her purple glasses.
• Emilia will be starting 4-Star, which is a full-day Pre-K program through the school district this fall! She and big sister Norah are SO EXCITED to be in the same school!!!

Promoting Awareness and Research

A couple quick facts about Turner Syndrome:

1. Turner syndrome (TS) is a genetic condition that affects only girls and women. Females typically have two complete X chromosomes (the sex chromosomes). Turner syndrome is caused by the absence of all or part of the second X chromosome in some or all of the cells of the body. The most consistent features of TS are short stature and lack of ovarian development.
2. TS affects approximately 1 in every 2000 live born baby girls. It is the second most common genetic/chromosomal disorder in females.
3. It is estimated that 98% of Turner syndrome pregnancies end in miscarriage, many even before diagnosis. Those who are living with TS truly are miracles!

I just saw an article the other day from Contemporary Pediatrics about the importance of pediatricians being able to recognize TS and therefore refer to specialists as soon as possible. http://www.contemporarypediatrics.com/pediatrics/recognize-refer-turner-syndrome/page/0/1

In the article, Philippe F. Backeljauw, MD, pediatric endocrinologist, director, Pediatric Endocrinology Fellowship Program, director, Cincinnati Center for Pediatric and Adult Turner Syndrome Care at Cincinnati Children’s Hospital Medical Center, clinical director, Cincinnati Center for Growth Disorders, and professor of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio was interviewed and provided the following information:

“Now, why it is important for primary care doctors to know about Turner syndrome is that they are most often the first-line physicians and providers to diagnose girls with Turner syndrome, and they should be aware of what the clinical presentation can be and what the absolute indications are to diagnose a girl with Turner syndrome. In the United States, if a girl with Turner syndrome is not diagnosed prenatally or is not diagnosed during infancy by the neonatal period or the first year of life, very often the diagnosis is not made until age 8 or 9 years. Girls with Turner syndrome sometimes get diagnosed as late as age 12 to 15 years, and many women end up being diagnosed during adulthood. In order to provide the best care, make the best recommendations for clinical management of all the potential comorbidities, it is essential that we make the diagnosis as early as possible, and therefore pediatricians are really the first to think about possible diagnosis and to make the appropriate referrals or do the appropriate initial testing.”

Why Increasing Awareness Matters!

Without the early TS diagnosis for Emilia at her 20 week ultrasound:

• we would not have been closely monitored for the remainder of the pregnancy with fetal ECHO and 3 D ultrasounds (Reminder: Only 2% with TS survive to live birth).
• we may not have known to have her followed by endocrinology to monitor growth, thyroid, bone, and vitamin levels.
• We may not have known to have an ultrasound of her kidneys to identify that she has a horseshoe kidney and monitor frequently for potential complications
• We may not have known to see a cardiologist and discover her bicuspid aortic valve and know to keep a close eye on potential complications

Our Request for Support

So we will continue to go outside our comfort zone and request donations to further research for Turner Syndrome, promote awareness, and celebrate the miracle and joy that Emilia is to us and all who know her!!!! Please consider a donation by clicking the green “donate” button on the screen – and making sure it goes to “Emilia’s Entourage” team…. The competitive nature comes out in us with this walk and we strive to continue our trend of being TOP FUNDRAISING TEAM!!!  :)

You can copy/paste this link into your browser to sign up to join our team and walk with us on September 7th!!!

https://turnersyndrome.z2systems.com/eventRegistration.jsp?campaign=146&fundraiser=18112&event=1028&