Baby Shrijay has been diagnosed with Glycogen Storage Disease (GSD). It might not be a name you have heard too often – but is one of the 5 most common birth defects. It is also one of the most common birth defects leading to mental retardation in newborns. Most children affected by GSD will not live beyond 2 years; if they do they almost certainly will not survive beyond 5 years.
Birth defects can be fatal in many cases, and GSD is one of the most serious of them. According to a collaborative survey conducted by World Health Organisation (WHO) and March of Dimes (MOD) in the year 2013, birth defects are responsible for the deaths of roughly 3.3 million children under the age of five years!
And yet we know so little about this condition.
What is Glycogen Storage Disease/Disorder (GSD)?
Glycogen Storage Disorder is a genetic disorder that prevents the body from metabolising glycogen. As a result the glycogen gets stored in the body (in the liver) without being used.
When we eat, the extra glucose that we consume (which is not immediately utilised to fulfill the body's energy requirements) is stored in the form of glycogen in the liver. This glycogen gets metabolised to give body energy through the day, till our next meal. This process helps maintain blood sugar levels at an optimum.
A person suffering from GSD is deficient in one/more enzymes required to breakdown glycogen. The glycogen hence starts accumulating in the body.
The Three Main Symptoms of GSD
- Hypoglycemia – lowered blood sugar level
- Hepatomegaly – enlargement of the liver
- Hyperlipidemia – elevated blood lipid and/or lipoprotein level
Major Effects of GSD
GSD primarily affects overall growth and development of the baby, and almost certainly leads to death by age 5, when untreated.
Weak Muscles: The baby experiences acute cramping of the muscles, accompanied by an overall weakness. This is known as myopathy.
Intolerance to Physical Activity: As a result of myopathy, the child will also develop intolerance to any kind of physical activity, commonly referred to as exercise intolerance.
Growth Failure: Usually there is a failure in growth of the child. Whatever little growth is shown may get arrested after a certain point.
Mental Retardation: Hypoglycemia severely restricts the amount of sugar reaching the brain, impairing its functioning and development.
Death: Usually, children suffering from GSD die by the age of 2-5 years.
How GSD Is Treated
The main course of treatment in the initial stages of GSD is focused on maintaining normal levels of blood sugar. One of the ways this is done is by putting the baby on a glucose drip. Such babies may have to be continuously monitored through the night too. Since Shrijay was diagnosed with the condition, the baby boy has been admitted to the hospital 8 times!
As GSD progresses, it will take the liver from bad to worse, until finally a liver transplant
is required to save the patient’s life.
We Urge You To Do This ONE Thing To Save Shrijay
Shrijay’s condition is extremely critical. The doctors have recommended a liver transplant operation as a last resort, and that too at the earliest. This is the only thing that can save the life of this little boy, not even two years old. However, his parents have undergone a lot of hospital expenses till date. It has become impossible for them to bear the cost of treatment any longer. And the liver transplant procedure is estimated to cost the family INR 25 Lakh
(including the cost of performing the procedure, drugs required before, during, and after surgery, hospital admission charges, and ICU ward charges).
We cannot take the pain of the family away, but certainly we can do our bit in helping them save their brave little boy. So mommies, we beseech you to help Shrijay. Milaap – an Indian crowdfunding website – is helping the family to raise the money required for their baby. The site allows you to pay through an online donation, a third-party payment platform, and also by cheque.
You can donate for Baby Shrijay here.
As of May 16, 2017, the family has successfully raised INR429,030. However, there is a long, long way to go.
We urge you to do your bit and help save baby Shrijay. May God bless the little one and his parents!