Chromosomal abnormalities usually occur as a result of cell division problem. Some of the common genetic disorders such as Down syndrome or also called trisomy 21 which basically happens if the person had three copies of the chromosome 21. Both chromosomal as well as genetic disorder are rare conditions.
Rare conditions are the conditions which occur in 1 in 10,000 or less of the population. Because these conditions are uncommon as a well-known disability it is mostly parents who recognise it and get confirmed by genetic testing. Normally each of us humans have 23 chromosomes and those control and regulate the advancement and expansion of the operations of our genes. Human have approximately 20,000 genes and some of these genes play a vital role in the development of our intellectual and physical structures and some are insignificant.
As we humans develop before birth there are some errors that are either innate or a copying errors, some of these errors may have no significant effect and hardly noticeable but some may lead to evolutionary improvement while some have pretty severe outcomes. So, a person with chromosome disorder may have a mutation, deletion or a duplication which can impact their mental, physical or physiological progress.
It is often very hard for the parents to recognise the type of disability because it is often expressed in a series of digits and letters when they do the genetic testing , due to the lack of understanding for the conditions , families face a very difficult time to get information and support to benefit form the funding provided by the government.
NDIS & Genetic And Chromosomal Disorders
To access the NDIS, everyone needs a proper diagnosis of their disability from their specialist to be assessed accordingly. The National disability insurance agency (NDIA) have lists for their staff to determine the admission to the scheme. Those list are known us lists ( A,B,C and D) :
- List A –(Conditions which are likely to meet the disability requirements in section 24 of the NDIS Act)
- List B– (Permanent conditions for which functional capacity are variable and further assessment of functional capacity is generally required)
- List C –(Defined programs)
- List –D-(Permanent impairment/Early intervention, under 7 years – no further assessment required)
The above lists do not represent all type of disabilities. Also, to read more details about these lists you can visit the ndis providers melbourne website. Having a rare chromosomal or genetic disorder can be overwhelming to families and parents due to the lack of information and understanding about these conditions , so If you know someone who is impacted by a rare chromosomal or genetic disorder there are some recommended sites can be reached to look for support and information such as Unique, which is a registered charity they have a lot of very useful information on their website and can be contact for support . Another charity that is quite useful is Genetic Alliance Australia, they also have particularly good information and peer support for individuals and families impacted by a rare genetic condition/rare disease.