Inspiring life despite a diagnosis

Inspiring life despite a diagnosis

Danielle: DDX3X syndrome

August 23, 2021

Dani and her family fought hard to receive an official diagnosis for her daughter Hayden.  After many specialists they finally received a diagnosis of DDX3X.  So rare that there that at that time there were less than 500 people that have ever been diagnosed with this genetic deletion. 

Dani: DDX3X

Family comes together to receive diagnosis

Dani is no stranger to working with children who are delayed.  She is an occupational therapist and worked with children in the early intervention program.  This allowed Dani to be aware and notice when things with Hayden weren’t quite right. 

She said, “At about three months I realized she started doing things that were reflective, not even functional.  Then she would just stop doing it and she was unable to sit up.”

Like Dani, her family has been involved in helping people with disabilities for decades. Her parents and brother were able to help observe Hayden and noticed when things seemed a little off. 

Journey to receiving a diagnosis

Knowing Hayden was delayed, Dani set off to find answers.  Hayden was evaluated and was found to be delayed with no known reason or cause.  This caused Dani to dig even further and fight for answers. 

She shared, “We had to go through tons and tons of hoops…what we had to do was go through three different genetic tests to find what her diagnosis was… I was not going to settle for an autistc diagnosis because I knew she was not autistic.  There was something more going on.”

For Dani, not knowing her daughter’s official diagnosis was the worst part.  She said, “For me, that was worse than getting the actual diagnosis…we really fought to get a diagnosis and it was so frustrating to find the right answers…it was very bitter-sweet.  For me, I felt validated as a mother.  I knew it, I knew something was wrong and it wasn’t autism.”

What is DDX3X?

DDX3X is a genetic deletion disorder that affects each individual differently.  Some of the common symptoms associated with DDX3X are: intellectual disability, developmental delays, low muscle tone, difficulty with speech, seizures, movement disorders, abnormality of the brain, microcephaly. 

Some individuals with DDX3X can learn to speak, run or jump while others are non-vercal and cannot walk. 

Hayden is non-verbal, something that Dani says is a really difficult challenge for them.  As Hayden has gotten older she has learned to make different sounds to indicate if she is happy or doesn’t like something.

Unexpected diagnosis turns grief into joy

Dani shared what it was like to grieve the life she thought Hayden would have, saying, “It’s like you go on this trip and you are looking forward to going to Italy your whole life…and you end up in Holland.  It’s not Italy, but Holland has tulips and they have beautiful weather…to grieve even some of those things like marriage, prom, taking…you have to grieve some of those things..and that is a process.  But once you get through it, you’re really able to enjoy Holland and you don’t want to leave.”

Despite her family working in the field of helping people with disabilities, it was a different ballgame receiving a diagnosis for their niece and granddaughter than they had been used to.  Jay, Haydens uncle said, “It actually gave me a great deal more empathy for the parents and people that we work with.”

How to be okay with your new normal

Dani simply says, “Embrace, Embrace every single feeling,  Embrace when you’re upset because it is okay to be upset,  Embrace the help that you are offered and just love.  Love and remember that is all for a purpose…I learn more from Hayden every day than I learned my entire life.”