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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

You could say Darren Butler has quite the entrepreneurial disposition. The Hicksville resident not only founded a church, but invented a doorstop that does not require screwing any holes into your wall or door. The device simply clamps on to the bottom of any sized door without requiring tools.

“I never envisioned myself as being an inventor,” explained Butler. “I became one by accident and out of frustration.”

After Butler and his wife purchased their home, they wanted to decorate and maintain it.  “We have four children and at the time we wanted to minimize the damage that occurs from doors slamming into walls because as young children do; they have a tendency to aggressively open doors, and as a result the door knob created holes in our wall,” said Butler. “We purchased conventional doorstops so at the very least we could minimize that reality if not eliminate it all together.”

The Hicksville Fire Department hosted the Nassau County Parade and Drill Championships this past Saturday, an event that was entertaining for both guests and participants.

The Motorized Drill competition held in the morning had 16 participating fire departments. The drill included eight events and each racing team was judged based on how fast they completed each event. Events included the Three Man Ladder, Motor Hook and Ladder, Motor Hose, Efficiency, Motor Pump, and Buckets. The Hicksville Hicks came in fifth place and received a trophy.


Sports

Madeline Huffman, a fourth grade student at Our Lady of Mercy School in Hicksville, recently became the New York State Free Throw Champion in the Knights of Columbus Free Throw Competition, 9 Year Old Girls Division at the United States Military Academy, West Point.

Huffman’s journey to the state championship began at her home parish, Our Lady of Mercy Roman Catholic Church in January. The local qualifier was sponsored by the Knights of Columbus Joseph F. Lamb Council #5723. Boys and girls ages 9 through 14 competed, each receiving three warm up shots and 15 free throw attempts.

This November, Hicksville resident Marlo Signoracci will head to Florida for Ironman, a demanding, long-distance triathlon that includes biking, running and swimming. Here, she shares her story as she prepares for one of the most physically challenging athletic events out there.

“I meet my goals and maintain my health. I stay mindful of what is important to me and seek balance in all endeavors. With gratitude, I am fully present to this moment in time.”


Calendar

Hicksville Street Fair

July 20

Blood Drive

July 23

Our Lady Of Mercy Family Festival

July 30 - August 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