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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

When life hands you lemons, make lemonade. That’s just what a Hicksville baker is doing, except in her case it isn’t lemons, but a gluten-free diet. Her lemonade stand of choice is her brand new gluten-free eatery, “Jac’s Bakeshop and Bistro,” which held its grand opening on April 12.  

“I’m a baker who can’t even eat wheat or eggs,” said owner Jaclyn Messina, chuckling at the irony.

There’s a lot you can do in 99 minutes. You could cook dinner, play a non-stop soccer game, watch a romantic comedy or hang out with Odysseus, Achilles and Hercules. If you chose the last option, Hicksville High School’s upcoming theatre production of The Iliad, The Odyssey, and All of Greek Mythology in 99 Minutes or Less  is the place for you.

The mouthful of a title says it all. The cast will take on over 80 characters as they speed through all of Greek mythology, including popular tales such as The Iliad and The Odyssey, in a little over an hour and a half.


Sports

Vito Sciascia was recently named Hicksville Soccer Club’s Volunteer of the Year at the 2014 Long Island Junior Soccer League 2014 Kick-off Convention.

Sciascia started coaching travel soccer in 1998 for a boys team, the Flash, who later changed their names to the Muddogs. He could always be found at various sporting fields trying to recruit new soccer players. He would make each of these boys feel important and there was always room for another player. He tried to never turn a child away and when other coaches were having trouble with a boy he would take them on his team, no one was ever too much for him. Sciascia found the good in all those boys and they in return respected him. He took them to many tournaments and solicited enough sponsorship so that it was never a financial burden on their families.

Cantiague Park Senior Men’s Golf League had its first tournament on Thursday April 4. Twenty golfers came out on on a crisp but sunny morning. Charlie Hong was the only man to score under a 40, with a 38 and won for low overall score. Jim O’ Brien  scored a 41, and won low overall net in a tie-breaker with Mike Guerriero.

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 percent 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.


Calendar

The Acchords Concert

April 26

Senior Citizen Luncheon

May 1

Curtains

May 1-3



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