Welcome to Growing Up Kelsey

How did we get here.....
6 years....6 years it took to get here. That's a long time when you look back. Over the past three weeks so many times people have asked me why no one picked up on this earlier. I can't answer them, other than to say no one was looking for it. But I will say I have always said that something was not right from the day she was born.
If you are here you know us and want to know what is going on....for those of you who are new to the story....I am Jenn. Darryl and I are raising Kianna and Kelsey here in RI. Kianna is a great gymnast, a fantastic singer and good student...she definitely is beginning to give us pre-teen attitude but she is generally a good kid. Kelsey is my little firecracker! She loves hockey (and gymnastics by default) and swimming actually she loves anything that requires her to be moving!!! She can be a challenge but what kid isn't.

Three weeks ago Kelsey was diagnosed with mosaic Turner's Syndrome. She has 80% one x chromosome is missing part of its x and part is damaged and 20% one x is missing all together. Turner's Syndrome is characterized by 

• Short stature
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely spaced nipples
• Low hairline
• Low-set ears
• Reproductive sterility
• Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrosed)
• the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV
• Small fingernails
• Characteristic facial features
• high-arch palate (narrow maxilla).
• pigmented moles
• Webbed neck from cystic hygroma in infancy
• Coarctation of the aorta
• Bicuspid aortic valve
• Poor breast development
• Horseshoe kidney
• Visual impairments sclera, cornea, glaucoma, etc.
• drooping eyelids
• a small lower jaw
• Ear infections and hearing loss
• High waist-to-hip ratio (the hips are not much bigger than the waist)
•  cubitus valgus (turned-in elbows),
• soft upturned nails
• Thyroid issues
• Attention Deficit/Hyperactivity Disorder or ADHD (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
• Nonverbal Learning Disability (problems with math, social skills and spatial relations)

Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.

Okay now that I gave you all the technical stuff...here is how Kelsey is affected so far....
Short stature,Low hairline ,high-arch palate (narrow maxilla),pigmented moles, drooping eyelids,thyroid, ear infections/hearing loss, High waist-to-hip ratio (the hips are not much bigger than the waist),soft upturned nails and probably adhd and nld...we are going to doctors this week to look at her kidneys and heart.

So up next will be how we got to this diagnosis and where we are going....