Your granddaughter sounds like quite a character!

From what you have told us about your granddaughter being bright and active, with no visible signs of physical problems, it would seem likely that she has a very mild form of GA1.

What Is GA1?

GA1 stands for glutaric aciduria type 1. This is an inherited metabolic disorder that comes in a wide variety of levels of seriousness, with those at a low level, such as your granddaughter, with little or no outward physical signs of the disorder, but with some internal issues.

GA1 can manifest itself in a more acute manner, with typical physical signs being very large heads and sight difficulties. It is a condition which affects around 1 in 100,000 new borns.

As in inherited disorder, GA1 must be present in both parents, so it is not a disorder that can be, perhaps painfully, attributed to one parent.

Speak To A Specialist

In recent years, doctors have largely considered GA1 a treatable condition, with approved maintenance diets and recommended supplements. It is worth you gaining a detailed report from your specialist in order to understand what measures you and your family can take to help minimise the development and impact of the GA1 on your granddaughter.

The characteristics of GA1 are that the body is unable to break down certain acids, causing a build up of these acids. When the acids accumulate, they can cause damage to the brain and the regulation of movement. This is why it is characteristic for GA1 sufferers to have difficulty moving gracefully or purposefully, which can be embarrassing.

Medical Developments

In answer to your particular question about whether or not an optic nerve can grow and the implications of this for your granddaughter’s case, it is not terribly clear cut. While the correct biological answer is, unfortunately, no, there have been some revolutionary developments.

Optic nerves do not grow as they have proteins in their outer layer that are ‘programmed’ to not allow regrowth, so when they are damaged, or not properly formed, that is final. However, in 2004, Harvard Medical School scientists developed the ability to regrow optic nerves, so there is considerable chance that this will progress.