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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

Hicksville improv sketch comedy group, Unrehearsed, will be performing this weekend at Crossroads Farm in Malverne.

The group, which consists of performers from Hicksville, will put on a fast-paced, interactive improv sketch show which will be made up completely on the spot. The only thing the actors know is which improv game they will be playing.

An Unrehearsed show follows a format similar to popular improv sketch comedy television shows, such as "Whose Line Is It Anyway," using games to create hilarious situations that are completely made up on the spot.

Superintendent Maureen Bright and the Hicksville School District are parting ways, a year earlier than originally planned.

At a Board of Education meeting May 20, Bright announced that she would not be renewing her contract when it expired at the end of the 2014-15 school year. However, a notice posted last week on the Hicksville School District website stated that she is leaving her position July 31, 2014.


Sports

Cantiague Park Senior Men’s Golf League had its fourth tournament on Thursday, July 17. We had 34 golfers and only three who scored under 40. Low overall score was won by Charlie Hong with an impressive 34. Joe Sander scored a solid 49 and won low overall net with a 31.

Competition on the nine-hole course is divided into two divisions. Flight A is for players with a handicap of 13 or lower. Flight B is for players with a handicap of 14 or more. The league is a 100% handicap league. Any man 55 years or older is eligible for membership. We have many openings for this year, and you can sign up anytime throughout the the season. The league meets every Thursday at 7:30 a.m., but the formal tournament dates are only the first and third Thursday of the month through late October. We will have a final luncheon with prizes on our last meeting.

The Michael Magro Foundation is once again partnering with The Mastermind Unit to put on the annual Soccer For A Cause tournament. The event, which raises money for the Michael Magro Foundation, will take place at the Kevin Kolm Memorial Field in Hicksville this Saturday.

The soccer tournament is an enjoyable event, which offers participants the chance to enter in the competitive game. In years past, approximately 20 soccer teams from the tri-state area have played. All participants will be able to enjoy music and entertainment while supporting a worthy cause. Each registrant will receive a special event t-shirt. Teams can register online at http://www.mastermindunit.com/ with a $500 donation.


Calendar

Soccer For A Cause

August 2

Blood Drive

August 2

Holy Family Church Fair

August 13-16



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