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Advocacy Runs In The Genes

A Hicksville mother and daughter are an unstoppable team in their mission to raise awareness and education about rare diseases.

“The rare disease communities are a small voice, but when we come together we can really make a difference,” explains Marybeth Krummenacker, who is getting her message out to a panel of doctors at two events on “Rare Disease Day” on Feb. 28.

It’s a quest that hits close to home for both Marybeth and her 28-year-old daughter Laura. Just weeks after her third birthday in 1989, Laura was diagnosed with cystinosis, an extremely rare inherited disease that causes cystine, an amino acid, to break down in the body depositing crystals in the major organs. If left untreated it can slowly destroy the kidneys, liver, eyes and other vital organs.

Laura was born “perfectly healthy” according to her mother. But, as is often the case with children with cystinosis, began exhibiting symptoms around age two, including lack of growth and excessive dehydration. At one point she was rushed to the hospital with severe dehydration. “She almost died in my arms. Her potassium levels were so low, it’s a miracle she survived,” Marybeth fearfully recalls.

A series of tests eventually led to a diagnosis of cystinosis, which only has 500 known cases in the U.S., and 2,000 worldwide. Getting a diagnosis of a rare disease can be as rare as the disease itself. Marybeth says it was a matter of good timing and fate that helped Laura get that crucial diagnosis.

First the opthamologist examining Laura noticed a build-up of crystals in her eyes. “The doctor needed to check his textbook to see what was causing it,” states Marybeth. A kidney specialist had also coincidentally attended a conference on cystinosis shortly before examining Laura.

Of course a diagnosis is only the first step in treating a disease. Medications are often required. At the time there were no federally approved treatments for cystinosis. But that wasn’t about to stop Marybeth. The kidney specialist told her about a drug trial at the National Institute of Health in Maryland and Laura was accepted into the study.

For years Laura endured rounds of blood work, sonograms and x-rays while taking a host of medications that “tasted horrible,” but her mother says “she was always a trooper.” A trooper herself, Marybeth continually educated herself on her daughter’s rare disease, sharing whatever information she learned, especially with doctors. “If I didn’t speak up she wouldn’t have gotten the care she received,” says Marybeth. The study eventually led to the FDA approval of the drug Cystagon and the eye drops Cystaran.

Always the advocate for her daughter Marybeth was there every step of the way, especially when in 1999, a decade after her diagnosis, 13-year-old Laura needed a kidney transplant. Fortunately for Laura they didn’t need to go far in search of a donor. “My father donated my kidney to me,” Laura proclaims.

In the ongoing crusade to fight for her daughter’s health and medical care, Marybeth became the voice of many when she co-founded the Cystinosis Research Network (CRN) in the mid ‘90s. Her earliest fundraising efforts included garage sales and volleyball tournaments, and evolved into the foundation’s biennial dinner dance.

Marybeth is now taking her fight a step further as board member of the National Organization for Rare Diseases, aiding the forgotten thousands of so-called “orphan diseases.” Money is earmarked for both medical studies and for foundation members to attend medical conferences so Marybeth and others like her can educate doctors around the country about rare diseases.

Laura, who remains on up to eight medications daily including eye drops every hour, says the disease hasn’t prevented her from anything. She holds down two jobs, drives and lives a full and productive life. “You have to treat the disease like it’s a part of your life, not make it your life,” says Laura.

Just like her mother, Laura is turning to advocacy. While Laura humbly states she is simply a “spokesperson” for her mother, Marybeth quickly points out her daughter’s role in the upcoming CRN dinner dance. “Laura is taking a very active role in organizing the event. She is really stepping up to the plate,” Marybeth proudly says.

Marybeth is also humble about her advocacy. “I’m just Laura’s mother. Life handed me this card and I have to play it.”

The Cystinosis Research Network dinner dance is being held at the Milleridge Inn on March 8. For more information contact Marybeth Krummenacker at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

News

Dutch Lane Elementary School teacher Jaimie Fleschner went from the classroom to the pitcher’s mound recently, winning KJOY’s “Best Teacher On Long Island” contest.  

 

Fleschner still doesn’t know who nominated her for the contest and only found out she had been entered after she got a phone call from the radio station. 

 

“They told me I was nominated and I was completely shocked and flattered. It was a great feeling,” says Fleschner. 

Dance has a variety of benefits for children. Just like other sports like soccer, tennis or basketball, it promotes good health, emotional and mental stability.

The Dance Place in Hicksville is the brainchild of former dancer, Miana DeLucia. As a child, DeLucia found relief in her local dance studio. She says, “When I was young, my brother was very sick. I used to go to the studio just to get away. There, I found my passion and it became like a second home to me. It was my safe place.”


Sports

At 6 a.m. on a blustery Saturday morning 1,600 people arrived at Theodore Roosevelt Memorial Park to participate in the 27th annual Runner’s Edge Tobay triathlon and tri- relay race. The participants were from all over Long Island, some from upstate NY, a few from out of state and were all ages and some even with disabilities but all came with one goal in mind, to finish.

The course starts out as a half mile swim in Oyster Bay Harbor, then a 9.3 mile bike ride through Oyster Bay, Laurel Hollow, and Cove neck which is very hilly but finishes with a 2.9 mile downhill to the finish. Then the riders have one more leg of the race which is 3.2 mile run through Mill Neck and Brookville, up to Planting Fields Arboretum and back down to Roosevelt Park to the finish line.

Second year head coach Rob Carroll is encouraged by what he has seen from the Hicksville Comets in the preseason. For this reason, he feels the team is better than their preseason ranking of No. 13.

“Last year was a tough year for us,” he said in regards to their 1-7 season. “But we improved as it went on and played in some very competitive games.”

The team ended a 15-game losing streak last season with a 26-19 victory over Uniondale.  They also were barely edged 20-14 by Hempstead on a last minute score. The rest of the games featured several lopsided scores, which is why Carroll believes the team is being overlooked.


Calendar

BOE Meeting

September 10

HHS Class of 1954 Reunion

September 12, 13

Cruizin’ For A Cure Car Show

September 14



Columns

1959: The Year The Music Stopped Playing
Written by Michael A. Miller, mmillercolumn@gmail.com

The Eccentric Heiress Of ‘Empty Mansions’
Written by Mike Barry, MFBarry@optonline.net

Yellow Margarine And A Pitch For The Ages
Written by Michael A. Miller, mmillercolumn@gmail.com