- Associated Press - Saturday, November 7, 2015

GADSDEN, Ala. (AP) - Asher Mae Collins smiles sweetly as she excitedly waves both hands at her sides. The 17-month-old has the common physical traits of a child born with Down syndrome - small stature and an upward slant to the eyes.

But it’s the immune disorder Macrophage Activation Syndrome that her parents, Tripp and Summer Collins, are most concerned about. The disorder is rare and potentially fatal. To survive, Asher Mae may need a bone marrow transplant.

“Having a child with Down syndrome is the least of our worries,” Summer said.

The Collinses hope to also bring more awareness about children born with Down syndrome.

“The most important part about Down syndrome awareness is showing the world that children born with Down syndrome are individuals and not labeled. Yes, of course, they all have an extra chromosome and have some of the same traits, but each and every child born with Down syndrome is their own unique individual like the rest of us. Some crawl early, some crawl late. Some walk early, some walk late. Some talk early, some talk late. There is not a specific timeline to follow, just as with any kid.”

The cause of Down syndrome, or Tri-somy 21, is an extra copy of the 21st chromosome. People with Down syndrome are at increased risk for certain medical conditions, but most lead healthy lives.

To bring awareness to Down syndrome and Asher’s immune disorder, friends put together a special event.

Asher’s friends have sought to raise funds for Asher and her family. The baby has doctors’ visits regularly to Birmingham, and she has visits for early intervention through Hand in Hand at her home and through The Bell Center in Birmingham. This therapy includes physical, occupational and speech therapy and will continue until she is 3 years old. At that time, she will continue therapy through the local school system.

Asher’s parents knew something was wrong a few weeks before she was born when doctors did a sonogram.

“Her arms and legs weren’t measuring as long as they should, and the doctor mentioned dwarfism,” Summer said. The doctor did not mention Down syndrome, but Summer did research on her own and found out that was a possibility, too. Tests also detected that she had a heart defect.

When Summer was 36 weeks along in her pregnancy, she did not feel movement in the womb. Doctors did a stress test, then a Cesarean section.

Asher was born May 27, 2014.

About half of the children born with Down syndrome have a heart defect, but there is no known connection with Down syndrome and the immune disorder.

Soon after birth, it was determined Asher would need open-heart surgery for Atrioventricular Septal Defect.

Her breathing was labored, and the doctors did not allow her to learn to eat by mouth for fear she would aspirate.

She spent several months in the NICU at St. Vincent’s Hospital before she was transported to Children’s of Alabama for her surgery.

She was tube-fed until her surgery, and now a G-tube, or gastric-feeding tube, is in place that assists her in getting the nutrients she needs, her mother said.

“She’s beginning to eat by mouth, slowly but surely,” Summer said.

When Asher was almost 3 months old - on Aug. 6, her older sister Jade’s birthday - she had heart surgery. She recovered from the surgery, but by Thanksgiving, she was sick and ran a fever for three weeks.

“They couldn’t put their finger on what was wrong,” Summer said.

They even tested her for leukemia and HIV, her dad said, but it was the rheumatologist that discovered the immune disorder.

“It’s very rare,” her father said. “And it’s usually fatal by the time they figure out what it is.”

There is no cure, but there is hope Asher can be treated through a bone marrow transplant if she relapses again.

Her family and many friends and co-workers of her parents have been tested for bone marrow match, but there are no matches so far.

“In the meantime, our family will continue being blessed with Asher Mae’s presence and enjoy the happiness that she brings to us and all of those around her,” Summer said.

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Information from: The Gadsden Times, http://www.gadsdentimes.com

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