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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

Two brothers achieve the American dream

with their barbershop

Twenty-one years ago, brothers Solomon (“Sal”) and Albert (“Al”) Basanelov of eastern Uzbekistan joined some four dozen relatives from their small city of Fergana and traveled more than 9,000 miles west to America, where they sought escape from the tightly controlled and repressive regime that marked the former Soviet state.

In 1993, the brothers established themselves in Rego Park in Queens and began seeking out careers where they could live what they saw as the American dream—ownership of their own business and the freedom to pursue their own lives and fortunes. After working for a short while caring for patients in a Queens nursing home and motivated by two cousins, Al and Sal went to a New York City barber college and after finishing the course, worked as employees for their cousins who owned barber shops in Franklin Square. Eventually, they decided to open their own shop—Al and Sal’s Barber Shop—in a small shopping strip on Stewart Avenue in Hicksville.

Hicksville’s interim School Superintendent Dr. Carl Bonuso gave a review of the district’s recently completed capital projects and facilities updates at Nov. 19’s board of education meeting. Most of the projects were completed over the summer in each of the district’s schools.

“Thanks to Director of Facilities and Operations, Dave Bell and his staff, we are structurally sound,” said Bonuso. “So much of what we do is in-house which saves the district money and our staff makes the facilities as special as the students they serve.”


Sports

For the past 11 months, Hicksville’s Marlo Signoracci has been training for IRONMAN, one of the most physically challenging athletic events out there. The triathlon includes a swim, bike and run portion. Signoracci recently traveled down to Florida to compete in IRONMAN Florida. Here’s a look at her experience.

Nov. 1, 2014 will be a day in my life I will never forget and will carry with me forever. It truly was the celebration of the last 11 months of training.

The fall athletic season seemed to move quickly, but all teams had outstanding seasons with all teams reaching the playoffs except for two who had their best season in many years.

In addition to athletic acheivements, all of the varsity programs at Hicksville High School also participated in raising more than $4,000 for several charities this past fall: pediatric cancer, breast cancer awareness and cystic fibrosis.


Calendar

Model Railroad Open House

November 28-30

Popcorn Balls

November 30

Craft Fair

November 30



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