California, twins Jenna and Patrick Partington had a tight schedule taking medicine every day. This is because if he is late or forget, then suffered a rare disease that can destroy organs.
7-year-old twins from Sacramento, California was born with a rare genetic disease that causes cystinosis the amino acid cystine accumulates in every cell of the body and can damage the kidneys, eyes, liver, muscle, pancreas, brain and white blood cells.
The only treatment available is Cystagon taking the drug had to be taken every 6 hours, if you are late or forget it will cystine accumulates in the body and be like a time bomb that will destroy their organs.
“We always take the medicine every day wherever we go,” said the father, Kevin Partington (43 years) who worked in commercial real estate, as quoted from ABCNews.
The twins were born on December 7, 2004 with conditions a little premature, although apparently healthy at birth. When she was 6 or 7 months, twins are experiencing vomiting and no different with vomiting babies in general.
The first clue is visible is when Jenna to the hospital due to severe cold, he should be treated for 2 weeks and spent time in intensive care units. Her body started cramping and dehydration.
“I began to suspect something is not right and he said he could not understand the conditions experienced by Jenna,” Partington said.
Diagnosis of cystinosis was found that in March 2006 by a geneticist at the Scripps Institute in San Diego. And diagnosis for Patrick is known thereafter as the doctor tested the number of white blood cell cystine her.
“It turned out that my husband and I carry a recessive gene for this disease, and the twins each have one gene of the four possible carry this gene,” said the mother Teresa (39 years).
But now the twins are joined by 41 other patients to become part of clinical trials of new drugs of the active ingredient in Cystagon so they only need to take medication 12 hours once and did not interfere with sleep and school.
The drug is also known to have fewer side effects such as nausea and discomfort in the stomach because it directly into the duodenum.
Based on data from the Cystinosis Research Foundation (CRF) currently there are about 2,000 known cystinosis patients worldwide.
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