Wanna know more about Inheriting Genetic Conditions

If you wanna know more about inheriting genetic conditions, please visit this informatory website. For quick reference here are few questions that might come to your mind immediately:

1. What does it mean if a disorder seems to run in my family?
2. Why is it important to know my family medical history?
3. What are the different ways in which a genetic condition can be inherited?
4. If a genetic disorder runs in my family, what are the chances that my children will have the condition?
5. What do geneticists mean by anticipation?
6. Why are some genetic conditions more common in particular ethnic groups?

How severe Krabbe is?

Krabbe is a very serious disorder from the fact that in the very early stages it can’t be diagnosed. And when it is diagnosed it is generally very late to get any cure for it. Krabbe is generally not identified initially as the infant remains very normal in its behaviour and growth pattern. Then suddenly it starts showing its symptoms and baby growth starts declining.

Suddenly, baby starts crying excessively without any reason (because of any kind of disturbance in brain); stops latching to its mother; stops eating; slowly stops movement of the body parts; looses the ability to hear, vision and eventually the most important task to remain alive, breathing. Basically the disorder in the brain stops sending signals to the nerves and slowly the brain looses control on that part.

It can be analogous to switching off the lights of any building or office one by one and then finally removing the main switch of the building.

It is very sad to learn that the infants suffering from this disorder have very rarely crossed 2 years of their age. Most disheartening fact is that leukodystrophy may be difficult to recognize in the early stages of the disease. That’s why it is suggested that the people planning for a baby should definitely consider genetic counselling which might help in identifying any such characteristics being carried by the parents. God forbid, but if anything like that ever identified then at least proper tests can be carried out and if possible be cured.

“Prevention is always better than cure.”

What is Krabbe – Leukodystrophy ?

Krabbe disease also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is a rare (occurs in about 1 in 100,000–200,000 births), fatal inherited degenerative disorder that affects the nervous system.  It is characterized by the presence of globoid cells (cells that have more than one nucleus).  Krabbé disease is one of a group of genetic disorders called the leukodystrophies.

Cause :

Krabbe disease is caused by mutations in the GALC gene, which causes deficiency of an enzyme called galactosylceramidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of mental and motor skills.  Krabbe disease results from the imperfect growth and development of myelin.

Symptoms:

Infants born with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, excessive crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur.
It is said that the infant suffering from this disease slowly looses control on its nervous system.  Because of that one by one all the system of the body stops working. 

Treatment:

Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. A recent study reports that cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. 
But generally that all happens only if the disease has been diagnosed in the very early ages of the infant, say 2-3 months.  Only then the above mentioned treatment has a success rate of less than 50% and that too is very very costly.  Generally the treatment involving Bone Marrow transplantation costs around $250,000 and even more.  Even after that it is not sure the infant will be 100% normal or even live.  Studies are going on, but lot more has to be done before any proper treatment or the test gets available.

Spread Awareness about Krabbe

Please spread the awareness about this devastating disease.  I will keep writing about it on this blog.  For now to learn more about this, you might have to do some Googling….  Search for Krabbe or leukodystrophy and you will find lot of stuff about it.  But frankly speaking there is so much matter available but no one can help the parents of the child suffering from this disorder.  There is no proper treatment available today for that.  And whatever is available that has a success rate of less than 50%.  Rest, only God can help and He can show some of his miracles.  For now we can just hope and at least spread this awareness blog to wherever you can, so that people know what it is and how severe it is.  I will write about it more in the future posts….