All About Genetic Conditions

The National Human Genome Research Institute describes genetic conditions as being, ’caused in whole or part by a change in the DNA sequence away from the normal sequence’.  Genetic mutations can exist in one single gene or in a number of genes. Mutations can be caused by environmental factors or damage to chromosomes.

Genetic conditions can either be inherited, if both parents carry the defective gene, or just occur in isolation.  Genetic conditions that we are familiar with include; cystic fibrosis, downs syndrome and sickle cell disease.  Many genetic conditions are apparent at birth, while many rare conditions do not reveal themselves until early childhood or later on in life.

Rare genetic conditions take time to be diagnosed because genetic testing normally doesn’t occur until all other diagnoses have been discounted.  In the case of MLD, the onset of the condition manifests itself as lack of concentration, behaviour changes and inability to learn.  Often these first symptoms are attributed to behavioural and learning disorders such as ADHD.  Retts Syndrome looks very much like development delay until more obvious symptoms are observed.

Over 30,000 children are born with a genetic condition every year.  Only 6,000 genetic conditions are recognised and scientists are identifying more every day.  Some genetic conditions are so rare that only a small number of children are identified as suffering from it.  Genetic conditions that only seem to occur in one child are so rare that they don’t have a name.  Children with this type of genetic condition are collectively known as SWANs (Syndrome Without A Name).

When your child is recognised with a rare genetic condition it can be very isolating and families can often feel as if they are the only ones in the world affected.  In highly populated areas such as cities, informal support groups exist and families can meet up and make links with each other.  Support groups exist in the North West but they are not very accessible for families in rural Cumbria.

Whatever condition a child has the feelings of grief and fear of the future are still the same.  Many families become isolated and estranged from friends because the landscape of their lives has changed so drastically.  Well-meaning people can sometimes compound the feelings of despair by being too sympathetic.  Therefore it is extremely important that families are able to communicate with and meet up with families in similar circumstances so that they can gain strength from each other.

If you are a Butterfly Hugs family please get in touch so that we can start creating links and unite to support our Butterfly children.

Useful Link:- Genetic Disorders UK

Bradley - Donation Towards A Hand Cycle

We donated £500 towards a 'handcycle' for Bradley.  He will...

Taylor Smith - Donation Towards A New Wheelchair

Our first donation was £500 towards the purchase of a...

Leave your comment