Newborn Genetic Screening

May 15, 2010

Courtesy by: wcbstv.com

There is nothing more important to parents than their child’s health, but sometimes a child who looks healthy may not be.

However, there’s one test that can find illnesses hiding in plain sight, and even save your child’s life.

James Stamateris is like any 12-year-old baseball enthusiast, but he has a serious blood disorder called thalassemia major. The life-threatening illness can be picked up at birth, but in James’ case, it wasn’t.

“My doctor, I assumed, did the appropriate test, and genetic testing wasn’t offered at the time,” mother Amy Celento said.

The condition was diagnosed almost by accident by a routine blood test when he was a year old. Now, James is treated with blood transfusions every three weeks. The treatment immediately boosted his energy and personality.

“His caregiver at daycare, the first time he had a transfusion, they said, ‘oh my gosh, James is playing with everyone,'” Amy Celento said.

Now, most children with conditions like thalassemia major are diagnosed within days after birth by automatic genetic screening, done by a quick heel prick and a drop of blood. Most states test for more than 30 different disorders.

“These disorders are predominately ones that the child appears perfectly well,” Dr. Patricia Giardina, of New York Presbyterian Weill-Cornell, said. “Even the pregnancy would have gone perfectly normally, but lo and behold, the child might have a rare disorder.”

Thanks to newborn screening tests, nearly 12,000 babies each year are diagnosed with serious or life-threatening disorders, and the conditions are picked up before the symptoms even start.

“Early detection can oftentimes lesson the complications or symptoms of the disease, and perhaps even prevent complications from occurring,” Dr. Giardina said.

A growing number of parents are opting out of the testing over confidentiality concerns, but experts say there’s no reason for worry.

“Confidentiality is something that we highly respect in medicine, and we’re very cautious about preventing information from being released without the families’ permission, “Dr. Giardina said.

James Stamateris’ mother says the benefits far outweigh the risks.

“I would say do it,” Celento said. “If it’s an option, then it’s being offered to you. Do it.”

In New York State, genetic screening is done automatically, unless a parent chooses to opt out.

The information is kept under lock and key at the State Department of Health. Parents can request for their children’s records to be returned to them at any time.

More than four million children undergo genetic testing each year.


Donation/Sponsor List & Reminder for Thalassemia Fundraiser!

May 5, 2010

Just to remind you that we are 6 days away from the

THALASSEMIA FUNDRAISER AT
CIRCA RESTO LOUNGE ON THURSDAY
MAY 6TH, 2010!

TICKETS ARE $25 – INCLUDES A FREE DRINK AND A MIXTURE OF APPIES!

*Dating Auction will begin at 9:30 sharp!!!!*

The door prize for the limo ride donated by Star’s Choice Limousine service which includes a ride to and from Circa, for winner plus guest(s), on the day of the event will be drawn MIDNIGHT before the event!!

So please remember to check your inbox the morning of event to see if you are the winner! Note that if the guest(s) has not purchased a ticket to the event, they will have to do so the day of the event, either on-line or through myself.

All proceeds will be donated to The Vancouver Thalassemia Society, the Hemoglobal Organization, which helps pediatric patients in Sri Lanka, and the FAITH organization, which assists in helping patients in Pakistan with Thalassemia.

Thank you for being a pebble at the Thalassemia Tsunami! 🙂

See you there!

A BIG THANK YOU TO THE DONATIONS/SPONSORSHIP GIVEN THUS FAR:
-Circa Resto Lounge: wwwcircarestolounge.com
-STAR’S CHOICE LIMOUSINE SERVICES – DOOR DRAW PRIZE MIDNIGHT BEFORE EVENT: http://www.starschoice.ca
-MINE STYLE SOURCE HAIR SALON: http://www.minestylesource.com
-SINISTER SKIN TATTOO AND BODY PIERCING: http://www.sinisterskintattoos.com
-RAIN HAIR SALON: http://www.rainhairsalon.com
-OCEAN DAY SPA – COQUITLAM BC: http://www.oceandayspa.ca
-GRIFFIN TRANSPORTATION SERVICES: http://www.griffintransportation.com
-RAHIM AMARSHI, B.SC.D.CH,CHIROPODIST/FOOT SPECIALIST – TORONTO, ONTARIO
-MOE BALOO, D.C. – METROTOWN BURNABY
-STARBUCKS, WESTWOOD PLATEAU COQUITLAM BC
-YASMIN HASHAM, HAIR & MAKE UP
-THIRD EYE PRO MULTI MEDIA: http://www.thirdeyepro.ca
-SHEFARR ENTERPRISES
-LIDS- METROTOWN BURNABY
-DR. CAROL ZAWADA, ND – ZAWADA HEALTH
-DR. JOLENE KENNETT, ND – NORTH VANCOUVER, BC
-PARTY TAILORS – PORT MOODY, BC
-Sony 24x DVD +/- SATA Internal DVD Writer – ORGANIZED CHAOS TECHNOLOGIES: http://www.organizedchaostech.com
-BOUCHER INSTITUTE OF NATUROPATHIC MEDICINE
-massage and body mud bath – BODY TEMPLE MASSAGE – PORT COQUITLAM BC
-a brand new Stereo System (Surround Sound, 5 speakers, the works) – ANONYMOUS
-BROWN’S SOCIAL CLUB RESTAURANT – INSIDE NEWPORT VILLAGE, PORT MOODY, BC
-REFLEX BODYBUILDING SUPPLEMENTS – COQUITLAM, BC
-NATURAL FOCUS FOODS- KENSINGTON PLAZA, BURNABY, BC
-SHAFIQ JIWANI, HABSONS JEWELLERS SUPPLIES: http://www.habsons.com
-PUB NIGHT INCLUDING ONE ROUND OF DRINKS AND COMPLIMENTARY APPETIZERS FOR 10-15 PEOPLE – CEILI’S PUB -VANCOUVER
-PARTYLITE GIFT CERTIFICATE
-CURVES – PORT MOODY, BC
-COMPUTER REPAIR – GOOD TECHS – CALGARY, AB
-VIRTUALLY YOURS (ASSISTANCE): http://www.vya4hire.com
-THALASSEMIA FOUNDATION OF CANADA
-CANADIAN BLOOD SERVICES


****dont forget – you can buy your 2ND ANNUAL THALASSEMIA FUNDRAISER TICKET AT: http://www.eventbrite.com/event/638599067

thanks for your kind support!!!


Honoring Sophia

March 11, 2010

Courtesy by: cnylink.com

Thirteen-month-old Sophia Stagnitta, of East Syracuse, will grow up receiving blood transfusions.

Little Sophia was diagnosed with Beta-Thalassemia Major, also known as Cooley’s Anemia, when she was 11 days old, her mom Jennifer said last week at Skaneateles High School. Jennifer and Sophia were in town for a blood drive being held in Sophia’s honor at the school where her dad, Scott Stagnitta, is a middle school teacher.

Beta-Thalassemia Major is a genetic blood disorder that prevents or greatly reduces the body’s ability to produce adult hemoglobin and causes anemia, which is a lack of iron.
Jennifer said Sophia thankfully has not had to have any blood transfusions yet, but each month the family goes to University Hospital’s Pediatric Hematology/Oncology department to have the toddler’s hemoglobin level tested.

“Her hemoglobin level has been up and down, but in the normal range,” Jennifer said.

While Sophia’s levels have fluctuated between 10 and 11, once the levels drop to a 6 or 7, she will need at least one transfusion each month. But with transfusions also come more concerns as receiving blood can cause an iron overload, which in turn will mean Sophia will have to endure therapies to remove iron from her blood. The two methods of removing iron are either through taking a pill orally, but not everyone can take it, or through a method called Chelation Therapy, which requires a needle to be inserted into the body to aid in removal of heavy metals.

“The only way to cure this is a bone marrow transplant,” Scott said, but even then the marrow has to be an identical match from a sibling.

The entire process for a bone marrow transplant would be seven months or more.

“If we were going to do it that way, they want to do it while she’s young,” Scott said.

The younger she is, the less likely it will be that her blood is overloaded with iron, and she would have to be closely monitored.

One issue that stands in the way of even looking into bone marrow transplant is Sophia is Scott and Jennifer’s first child — she has no siblings to be matched to.

“We definitely want another child,” Jennifer said, adding she and Scott have met with a genetic counselor and are aware there is a 25 percent chance of having a second child with Beta-Thalassemia Major. “It’s a lot to think about.”

According to Jennifer, after being diagnosed, her hematologist said Sophia may need her first transfusion at 6 months old but has been fortunate to come this far without having to receive blood.

“I think the hardest part is looking at her and knowing something is wrong,” Scott said.

But for the unknowing person to look at Sophia, she appears to be a normal, active and perfectly healthy 1-year-old. She’s full of energy and on target as far as height, weight and other such benchmarks.

“She’s very active. You’d never know what’s going on,” Jennifer said.

While the blood disorder is rare in the United States and Canada with only around 700 people being affected by it, Jennifer said that’s not the case in places like Italy where a large portion of the population has some form of Thalassemia. Both Jennifer and Scott are of Italian descent and therefore there was a chance they may pass the disorder on to Sophia.

There was no prenatal screening for the disorder or much reason for concern when Jennifer was pregnant, though, as both parents are young and in good health.

For the time being, the young family is living life as normal with a monthly trip to the hematologist.

“We’ll try to keep it normal for her,” Jennifer said.

One thing they have learned is not to dwell on it. Another is to be thankful for things like the Red Cross blood drive on Thursday, where there was an overwhelming amount of support from the community for Sophia.

Sophia may not receive blood donated last week by Skaneateles’ teens and teachers, but the donations will help replenish the blood supply and will go to those who need blood now.

According to statistics from the American Red Cross, at some point in our lives, 80 percent of us will require a blood transfusion and only 4 percent of eligible donors donate.

“We’re honored they would think of Sophia,” Jennifer said.


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