• Spread the love

    CELEBRATING BUFFALO TOGETHER
    #totallybuffalo

    CELEBRATING BUFFALO TOGETHER
    #TOTALLY BUFFALO

 

Little Girl Fights Rare Disease as Parents Work to Bring Awareness

Spread the love

This is Abby. An adorable, sweet little girl.

A happy, calm, middle child who lights up the room.

This sweet girl also suffers from a very rare disease, “Abby’s right eye was going back and forth, which is known as nystagmus,” Abby’s mom, Melissa recalls, “Her head was turned to the right and would not move. She had some labored breathing and her body was dead weight. Paralysis, which is another symptom, did not start until December 2018.”

The family was devastated by Abby’s diagnosis. “My husband and myself had never heard of AHC until Abby was at children’s hospital on December 4, 2018 for right sided paralysis. Which is another symptom. Abby did not exhibit paralysis until this time.”

 

“January 9, 2019 was a normal day in our house until we received the phone call from our genetic counselor confirming Abby’s diagnosis of AHC. Our hearts dropped and our hopes and dreams for our little girl were buried. We have no idea what the future holds for Abby. We can only hope she will live a happy healthy life and surprise everyone by beating the odds. She is a true inspiration and will surprise us all by her strength and determination. She is rare and she is one in a million. She is OUR Abby.”

According to the National Institute of Health, Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may affect one side of the body or the other (hemiplegia) or both sides of the body at once (quadriplegia). Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. Delays in attaining developmental milestones (developmental delays), cognitive impairment, and persistent issues with balance and the presence of continuous dance-like movements of limbs or facial muscles (chorea) may occur independently of episodes of paralysis, weakness or stiffness and persist between episodes.

Abby’s family has been trying to give her the most normal life as possible – and the little sweetie is working hard to meet her age milestones.

There is no  cure for this disease and no experts here in Buffalo.   There is medicine used, but is currently not FDA approved here in the United States.  Abby does see a neurologist here, but also a specialist in Boston.

CURE AHC, in North Carolina is working closely with Duke University and the AHC clinic on the AAV Gene Therapy Project – but as is the case with many rare diseases, the funding is scarce and it all takes time.

As far as a prognosis for Abby, her mom says that’s tough to say. “No one can tell us Abby’s prognosis because this is a very individualized disease. We just hope with the AAV gene therapy that they will come up with a cure for this debilitating disease.”

When asked what the community can do to help – Abby’s mom answered this way: “Spread awareness on this devastating disease. Abby is one in a million. From what we were told, there are about 400 reported cases of AHC in the US and only about a dozen in NY, so knowledge on this disease and funding for the gene therapy that could possibly cure this disease and save our baby is what our family and I are praying for.

So say a prayer for sweet Abby as we thank this West Seneca family for reminding us to always advocate for our children – to never give up – to search for the answers. It’s never easy – but it is always necessary.

Mary Friona

Editor-In-Chief at Totally Buffalo
Following my heart with my husband and four daughters. An Emmy Award winning journalist lucky enough to work in television & radio for 20 years -seeing wonderful places, meeting great people and telling their stories.
Mary Friona

Trackback from your site.

Mary Friona

Following my heart with my husband and four daughters. An Emmy Award winning journalist lucky enough to work in television & radio for 20 years - seeing wonderful places, meeting great people and telling their stories.

Leave a comment