CDG stands for Congenital Disorder of Glycosylation. There are many different sub types of CDG and I’m sure that there will be many more found as research is done. CDG is a group of extremely rare and often very complex genetic, metabolic diseases which affect all parts of the body, including the brain. Although two patients can have the same sub type of CDG, for example, Elijah’s is type 1a, those two patients might have a very different experience of CDG as within that subtype there is a wide spectrum of how badly it can effect you. Some patients may have very mild CDG whereas some may have a more extreme version of it which requires more specialists, hospital appointments, and hospital stays etc. Unfortunately, for a lot of CDG patients, the future is unknown and uncertain because we don’t know how mild or extreme their CDG is on a day to day basis and only time will tell.
Selfishly, I only know a little bit about Elijah’s subtype of CDG. It’s been such a worldwind that we haven’t had a chance to 100% digest what CDG fully means, and definitely haven’t had a chance to fully look into the different subtypes. You can find out more about the different subtypes here though so I hope this helps someone. With CDG type 1a, there are 3 stages that a CDG patient will go through. Until Elijah grows, we don’t know how mild or extreme his symptoms will be.
Stage 1. Infantile, multi system stage. Ages 0-3 years.
- Hypotonia (low muscle tone)*
- Feeding problems*
- Vomiting and diarrhoea
- Seizures
- Unusual fat distribution (more than usual on pelvic and bum area)
- Inverted nipples*
- Crossed eyes*
- Variable growth delays*
- Variable developmental delays*
- Distinctive facial features
- Liver complications
- Osteopenia (low bone mineral density)
- 20% of CDG1A babies also unfortunately do not make it past the first year of their life
All of the starred symptoms is what we have found with Elijah. In time, he may grow out of the symptoms or the opposite may happen and he will develop more of the symptoms, but thankfully none of symptoms he has now are severe.
Stage 2. Late infantile and childhood ataxia-intellectual disability stage. Ages 3-10 years.
- Strokes & stroke like episodes
- Muscles and tendons tightening meaning that joints can’t fully extend
- Developmental delays – both physically and mentally
- Bone abnormalities
- Difficulty coordinating movements
- Visual disorders which in extreme cases lead to blindness
Obviously, we hope Elijah to have little or none of these symptoms but if they appear, like everything, we will tackle it as a family and support Elijah.
Stage 3. Adult stable disability stage.
- Premature ageing
- Persistence of previous symptoms
- Pain & numbness in hands and feet
- Curvature of spine
- Variable intellectual ability
- Hypothyroidism
- Absent puberty for females
- Small testes in males
Although devastatingly there is no cure for CDG1A, with monitoring and having treatment when necessary, Elijah and other CDG1A babies may have a chance at a ‘normal’ life. We don’t know what of the symptoms Elijah may have, and we can only hope for the best but even if he has all of these symptoms, with his army of supporters I know that we will face every obstacle head on.
How do babies get CDG1A ?
CDG1A babies generally get their condition when both its parents are carries of the disease. The faulty gene is the PMM2 gene and a baby with one parent who is a carrier, in general won’t have any health related issues. The health related issues happen when both parents are carriers of the faulty gene, and then pass that onto the baby. The baby then has a 1 in 4 chance of having health related issues from it and will have the condition CDG1A.
In short, the best and easiest way for me to explain what CDG1A is, and how it affects Elijah is as follows.
Part of his brain (the cerebellum) is too small. For example, if it was meant to be the size of a tennis ball it’s only the size of a ping pong ball (not accurate at all) Because that part of his brain isn’t fully developed, and the brain is already so complicated, we won’t know what Elijah will achieve and what he won’t. We have no idea at all how badly it may or may not affect him. Also, as he can’t just ‘grow that part of his brain back’ that is why there is no cure.
Information links:
To Infinity & Beyond 