Friday, January 25, 2008

Sagot Sa Aking Dasal?

From this magazine article, I visited JDRF's website to do some research on Monogenic Diabetes. And here's what I've found out:
What is Monogenic Diabetes?
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes. But some rare forms of diabetes result from mutations in a single gene and are called monogenic. Monogenic forms of diabetes may account for about 1 to 2 percent of all cases of diabetes in young people. In some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously. Most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy. As a result, monogenic diabetes can easily be mistaken for type 1 diabetes.
Types of monogenic diabetesPermanent neonatal diabetes mellitus (PND), transient neonatal diabetes (TND), and maturity-onset diabetes of the young (MODY) are the main forms of monogenic diabetes. These forms of diabetes can include a group of different genes; some respond to treatment, while others are mild and should not be treated. MODY is the more common form. PND and TND first occur in newborns and young infants; MODY usually first occurs in children or adolescents but may be mild and not detected until adulthood. Genetic testing can diagnose many forms of monogenic diabetes. If a diagnosis based on genetic testing is not made, people with monogenic diabetes may appear to have type 1 or type 2 diabetes.
**********************************************************************************
I consulted Dr. Jennifer Cook, a Pediatric Endocrinologist about this and asked if it is possible for Kyle to get tested. The answer is a very disappointing NO. I asked if she thinks that Kyle had this kind of diabetes and her reply was " I doubt it".
I sort of expected that answer because from what I've read, there are guidelines to be followed for you to be considered a candidate. Here's the article:
Who Should Be Tested?
Genetic testing can diagnose many forms of monogenic diabetes. Because it is so rare, relatively few people will be diagnosed with monogenic diabetes, as Lilly Jaffe was. But the number could run into the tens of thousands, worldwide. And it clearly illustrates how research advances can quickly and dramatically change the lives of people with diabetes for the better. You might want to consider testing for monogenic diabetes if you or your family member meet the following criteria:
diagnosed with diabetes during the first six months of life,
familial diabetes with a parent affected,
mild fasting hyperglycemia (high blood sugar), especially if young or familial,
and/or diabetes associated with extra pancreatic features.
Some tests that help differentiate monogenic diabetes from type 1 diabetes are simple and relatively inexpensive; parents of children who were diagnosed with type 1 diabetes at an early age should discuss with their physician whether such a test was conducted at the time of diagnosis, as such testing is typically not done. A correct diagnosis that allows the proper treatment to be selected should lead to better glucose control and improved health in the long term. Testing of other family members may also be indicated to determine whether they are at risk for diabetes.
***********************************************************************************
Sa una palang, bagsak na! Kyle was diagnosed when he was 22 months old. But still, I am hoping against hope for them to consider my request. Pano kung posible pala yung older than 6 months e maging positive sa genetic testing na yun? We will never know unless we try, right? But then his doctor said, it's not on top of her list.
Kaya kanina sa ospital, I can't help but tear up in front of the doctor. I feel so helpless and hopeless. My heart bleeds for my little boy. In a way, I am thankful that he's so young to understand all these. I don't know how he can handle the disappointment.
As for me? Oh...Believed me, you don't wanna to know....

No comments: