[ad_1]
A Californian baby has been diagnosed with a rare disease that only 59 others in the world are known.
Doctors have not found a cure or treatment for the disease, the triosephosphate isomerase (TPI) deficiency.
According to the information center on rare and genetic diseases of the National Institutes of Health, this deficiency "is a serious disease characterized by a shortage of red blood cells (hemolytic anemia), neurological problems, infections and muscle weakness may affect breathing and heart function. "
"TPI deficiency is the most serious form of a group of diseases called glycolytic enzymopathies, rare genetic diseases that lead to degeneration of red blood cells. Signs and symptoms include anemia, fatigue, pallor, yellowing of the skin and whites of the eyes (jaundice) and shortness of breath ".
JT Borofka, 7 months old, from Salinas, California, was diagnosed with triosephosphate isomerase deficiency just 2 months after birth. He is photographed with his parents in an archive photo. (JT help to defeat TPI / GoFundMe deficit)"Other symptoms include muscle weakness and atrophy, movement problems (such as involuntary muscle contractions (dystonia), tremors, and low muscle tone), convulsions, cardiomyopathy, and weakness of the diaphragm that may cause breathing problems and lead to respiratory failure "he added.
JT Borofka from Salinas, 7 months old, was diagnosed with the rare disease shortly after birth, her parents told KSBW.
"We think, and the doctors too, that he is the first person to be detected with this very rare disease before the onset of neurological and major symptoms," said Jason Borofka, JT's father, to the broadcaster.
The boy is the only child of Jason and Tara Borofka. At the age of 2 months, he was sent to the Stanford Children's Hospital after his pediatrician had detected low levels of iron and oxygen. This was the first case of IPT ever documented in California.
JT Borofka, 7 months old, from Salinas, California, was diagnosed with triosephosphate isomerase deficiency just 2 months after birth. (JT help to defeat TPI / GoFundMe deficit)"Our doctors at Stanford and their team are struggling to offer any treatment or treatment to our son," said Jason Borofka. "The doctors gave him 2 to 5 years to live and he said it would be very hard for us and it would be horrible. We have been crying for a good week, that 's for sure, but now we are holding on and we are going to try to beat this game. "
The couple wanted to share the baby's story in hopes of raising awareness about this rare disease. They hope that doctors can find a cure.
In addition to TPI, parents said on a GoFundMe fundraising page that the infant was also suffering from haemolytic anemia.
JT Borofka, 7 months old, from Salinas, California, was diagnosed with triosephosphate isomerase deficiency just 2 months after birth. (JT help to defeat TPI / GoFundMe deficit)According to Johns Hopkins Medicine, "Hemolytic anemia is a disorder in which red blood cells are destroyed faster than they can be produced. The destruction of red blood cells is called hemolysis. "
"Red blood cells carry oxygen in all parts of your body. If your number of red blood cells is below normal, you suffer from anemia. When you have anemia, your blood can not bring enough oxygen to all your tissues and organs. Without enough oxygen, your body can not function as well as it should, "he added.
"Hemolytic anemia can be inherited or acquired: Hereditary hemolytic anemia occurs when parents pass on the gene of the disease to their children. Acquired haemolytic anemia is not something you are born with. You develop the condition later. "
[ad_2]
Source link