Local mom raises awareness for Turner Syndrome - KSWO, Lawton, OK- Wichita Falls, TX: News, Weather, Sports. ABC, 24/7, Telemundo -

Local mom raises awareness for Turner Syndrome

LAWTON, OK._It affects one in every 2,500 female births.

80,000 women and girls are affected with it currently in the United States.

We are talking about Turner Syndrome.

It is a chromosomal disorder found only in women.

One local mother whose six-year-old daughter has struggled with the disease since birth decided people, including physicians, do not know enough about Turner Syndrome.

She is on a mission to create awareness for the sake of her daughter.

Turner Syndrome is the result of a missing or incomplete chromosome in females.

Josslyn Reyes was diagnosed at age two after suffering from high blood pressure, kidney failure, anxiety and unusually small stature.

Other symptoms include heart defects, learning disabilities and ovarian failure, meaning girls with TS cannot have children of their own.

If you saw her, you might not notice her small frame or low hairline…both symptoms of

Turner Syndrome.

By all accounts Josslyn is your average six-year-old girl.

But that was not always the case.

For the first two years of Joslynn's life, Janine knew there was something wrong, but the doctors could not find anything.

Some even accused her of making the symptoms up.

"She wasn't really talking, she wasn't walking, she couldn't hold her head up yet, she couldn't sit up," said Reyes.

Finally, at an ER visit, a doctor asked Janine what she thought might be wrong with her child.

Janine was a pre-med student in college and because of that experience she said she knew in her heart it was Turner Syndrome.

Since the diagnosis, Josslyn has improved.

Her blood pressure is normal and her kidney is functioning.

Now Janine is pushing for awareness.

She reached out to Oklahoma governor Mary Fallin.

"I put in an email, I sent in a request through her site, to request a proclamation for Turner Syndrome awareness month," said Reyes.

Governor Fallin signed the proclamation and Janine received it in the mail on Thursday.

February is now Turner Syndrome Awareness Month.

Josslyn is only six, but she understands her disease well.

She is just as passionate as her mom about raising awareness.

Janine says the change she has seen in her daughter is amazing.

Her hope is that confused and frustrated parents can become aware of the disease and see the same change in their little girl.

"She went from a child that couldn't sit, couldn't speak, wasn't affectionate, was thought to not be able to go to school, I was going to have to home school her...to this amazing, funny, bright, smile-y, loving kid," said Reyes.

As part of Janine's effort to raise awareness for Turner Syndrome, she has also started a Facebook page for TS parents to connect and started a private TS mothers and parents group.

It is a place where parents can come together and vent; discuss new information or tips for raising a daughter with turner syndrome.

To learn more about Turner Syndrome, visit turnersyndrome.org or search Facebook for Turner Syndrome Society of the United States.

 

Powered by Frankly