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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

A group of like-minded local residents banded together and saved more than 200 area trees from the chopping block — for now.

A state judge ordered Nassau County and the Department of Public Works to stop cutting down trees along South Oyster Bay Road, granting a temporary restraining order to a group of residents spearheading an effort to save the trees.

State Supreme Court Judge Antonio Brandveen scheduled a hearing on Thursday, Oct. 16 for the county to address complaints from residents, in particular a group called Operation STOMP (Save Trees Over More Pavement) founded by Hicksville native Tanya Lukasik.The Public Works department had planned to removed more than 200 30-foot trees in communities ranging from Plainview, Bethpage, Hicksville and Syosset.

For the past 16 years, Lucia Simon has walked from her home in Hicksville to her job at the Hicksville Public Library. She enjoys her job as a librarian and says that the staff has become like family to her. But for the past three years, Simon and 56 fellow co-workers have been frustrated at what she says is the library’s board refusal to negotiate a fair contract.  

“We have had no contract in three years. They refuse to bargain with us. Every time they come back to us it’s not fair,” says Simon.

However, the board of trustees disagree, saying that it has made a “fair offer.”


Sports

The Girls Varsity soccer team, in honor of Breast Cancer Awareness Month, wore pink uniforms and pink socks in their game on Oct. 8 against MacArthur whom they defeated 1-0. The girls and boys soccer programs at Hicksville High School are selling pink ribbon car magnets with a soccer ball and HHS on it with the words “Kick Cancer” on the ribbon. All the money raised will go to the Sarah Grace Foundation, which is a local foundation trying to beat pediatric cancer. The players plan to raise $1,000 for this organization

— From Hicksville High School

Hicksville native progressing through Mets system

The Mets minor league system is enjoying a rare period of prosperity. For years, it was barren due to trading off high-ceiling players for major leaguers, or neglecting the draft in favor of the free agent market. Since General Manager Sandy Alderson took over, the organization has reversed course and put a much greater emphasis on player development. During his second-to-last season, however, former GM Omar Minaya took a chance and drafted a local catcher, Cam Maron, out of Hicksville High School in the 34th round.


Calendar

Spooktacular Halloween

October 17

Fall Festival

October 18

Veterans Casework Seminar

October 21



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