It has been 2 years since we participated in the Turner Syndrome Walk, and we are still beyond thrilled at the tremendous financial and emotional support provided by our friends, family and co-workers at that time! We started with a goal of $500, and our team raised $2,985 for the Turner Syndrome Society of MN.

This year, our goal is $1,000… and of course we would LOVE to once again surpass that goal. The money raised goes to support the MN chapter; providing scholarships for girls and their family to attend the annual national conference, as well as to provide financial assistance for new and ongoing research relating to Turner syndrome. This is also a great way to raise awareness of this syndrome that affects 1 in 2,500 girls.

When we get asked “what is Turner syndrome”… it is not an easy explanation for us. We have our own experience; Emilia’s experience, however that could be very different from another person’s experience. Turner syndrome (TS) affects only females, and is characterized by common features that are caused by complete or partial absence of the second sex chromosome (X). It is a spectrum. In our case, Emilia has complete absence (XO) also known as “classic”. Common features may include: short stature (often requiring growth hormone injections), premature ovarian failure, heart/kidney/thyroid issues, and ear infections. Individuals with TS are on average of normal intelligence within the same variance as the general population. It is not uncommon to have difficulty with spatial-temporal processing, nonverbal memory and attention.

Our experience with Turner syndrome started at our 20 week ultrasound, when a cystic hygroma was found at the back of Emilia’s neck. Through testing, and verified at birth, she was diagnosed with monosomy X – Turner syndrome. We discovered she is one of the lucky ones… as only 1-2% of girls with TS make it to live birth. TS occurs in as many as 10% of all miscarriages. As many of you know, she was born with a cleft palate, horseshoe kidney, bicuspid aortic valve, and probable tethered spinal cord. By the age of 3, she has had her palate repaired (11 months), had a cervical laminectomy at level C1 (8 months) due to spinal stenosis, has had adenoids removed, and several sets of ear tubes. She will continue to be followed by ENT, audiology, cardiology, endocrinology, urology and neuro-surgery. She has participated in and GRADUATED OUT OF (yay!) physical therapy, speech therapy and occupational therapy. Her future will continue to be decorated with a variety of specialists and possibility of unknown treatments, therapies, surgeries… but whose future isn’t? We may just not be as “surprised” as some may be when those times come for them.

So I guess with this year’s fundraising efforts, our goal is to yes… raise FUNDS… but also raise awareness to the general population that Turner syndrome exists, that there needs to be more research regarding treatment options, and to provide positive exposure that TS does not have to define a person, nor does it make someone less of a person. If you are lucky enough to know someone with TS, you have been beyond blessed. Emilia and other “butterflies” we have met and know through social media groups radiate joy, affection, humor, and light to a darkened world. (I swear to you…. That missing chromosome was replaced with sunshine and strength!) Emilia senses and “feels” others pain and joy and does whatever she can to soothe or celebrate with them. She loves easily and is so easily loved.

In our home, we have decided to celebrate Turner syndrome, and not fear it. We are not ashamed of the diagnosis, and it does not define her. It will never be an excuse. We get informed, ask the questions that need to be asked, advocate when needed, and seek out help when needs arise.

Please consider joining our team this year, and walking with us at the 2018 Chasing Butterflies Walk in Plymouth, MN on 08/18/2018 from 9:00am-11:00am. If you are unable to join but would still like to donate… that is an option too! Please note that registration prices are also considered as a donation, and you will be able to designate a “team” or “individual”…. Please pick our team!! Emilia’s Entourage.

Use this link to register: (may need to copy/paste into browser)

https://turnersyndrome.z2systems.com/np/clients/turnersyndrome/eventRegistration.jsp?event=909&

Thank you for your support!

Molly, Jason, Norah and Emilia Cardosi