Family meeting challenges of young girl’s rare disease
HAMMONTON - Brooke Emerson is a bubbly, energetic almost 4-year-old girl from Hammonton. Other than being petite, you would never know just by looking at her that she is one of only 500 people in the United States with a rare disease — Cystinosis.
Cystinosis is an incurable disease that affects how amino acids are processed and transported in cells, leading to a buildup within cells that causes them to crystalize, eventually destroying them. It is a genetic disease that comes from recessive genes that both parents carry.
“She was just a normal baby at first,” said Clay Emerson, Brooke’s father. However, Brooke soon started to fall off of the growth curve, something that worried her first-time parents. Clay Emerson, and his wife Jill, were told by doctors not worry and that Brooke would catch up. Still, more symptoms began to appear.
“Her gait was funny,” said Jill.
Knowing that something was wrong with their daughter, they demanded that the doctors run tests and find out exactly what was going on. When Brooke was 16 months, the Emersons finally received the diagnosis of Cystinosis.
“A lot of times, it’s easy to diagnose if they do the tests they need too,” Jill said.
The disease is so rare that when the pediatrician told the Emersons of Brooke’s diagnosis, he admitted he had never heard of the disease before. He vowed, however, to learn everything he could about it to help Brooke.
The Emersons went through a spectrum of emotions and at first felt really isolated because of the rarity of Cystinosis.
Looking for support, the Emersons joined social media — something they had avoided — and found that while small, there is a strong Cystinosis community.
“We have been really lucky, as small as our community is, it is really tight. It has really been a blessing to have this community,” said Jill.
Brooke currently takes 20 doses of medicine a day and has a gastronomy tube. Her kidneys have been so damaged by Cystinosis that she will definitely need a kidney transplant at some point. Yet, despite the challenges, Brooke has not let them stop her.
“She is a champ,” said Clay.
“We are really proud of how well adjusted she is,” said Jill. It is the aim of the Emersons to give Brooke as normal a life as possible.
Ultimately, the Emersons hope that there will be a cure for Cystinosis. In the meantime, though, they encourage people to become organ donors and urge them to have compassion.
“You never know what people are dealing with,” said Clay.
Jill agreed with her husband, “Be kind,” she implored.
For more information on Brooke, please visit her website called Hope For Brooke. The website includes a blog, information on Cystinosis, and an option to donate to the Cystinosis Research Foundation. Please visit her website at www.hopeforbrooke.com.
For more information on Cystinosis, please visit www.cystinosisresearch.org.