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A genetic consultation and test can help to diagnose a rare health condition in a child or an adult, help you understand whether an inherited health condition may affect you, your child or another family member. It can also show if you are at higher risk of getting certain health conditions, including some types of cancer.
About rare diseases
Did you know there are over 10,000 rare diseases? According to the European Union, a rare disease is one that affects fewer than 5 out of 10,000 people in general. There are between 6,000 and 8,000 known rare diseases and 1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives. Often these rare diseases are chronic and life-threatening.
In the United Kingdom, a single rare disease may affect up to about 30,000 people. However, the majority of rare diseases will affect far fewer people than this. Some will affect only a handful or even a single person, in the whole of the UK. Collectively, rare diseases affect approximately 3.5 million people in the UK and 30 million people across Europe.
The majority of rare diseases have a genetic component and can result from changes in a single gene, multiple genes, or chromosomal changes.
Children with a rare disease
Rare diseases affect mostly children, with a third of rare disease patients dying before their fifth birthday. Approximately 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose.
Sometimes, getting the right diagnosis takes a long time because you might have common and seemingly unrelated symptoms, an unusual presentation of a known rare condition, or the clinician may not have the knowledge or experience.
Without a diagnosis, it can be difficult to access basic information and support. However, while each disease is rare individually, people with a rare disease often share similar challenges, such as accessing information, getting a diagnosis, and finding resources.
Some rare diseases
Rare diseases include rare cancers, such as childhood cancers, and some other well-known conditions, such as
- Cystic Fibrosis
- Fragile X Syndrome
- Neurofibromatosis
- Polycystic Kidney Disease
- Duchenne Muscular Dystrophy
- Rubinstein-Taybi Syndrome
- Cornelia-de-Lange Syndrome
- Autism Spectrum Disorder
- Down Syndrome
Genetic testing is often an important part of the diagnostic workup (approximately 80% of rare diseases are genetic). Knowing the underlying genetic cause may help you in your decision-making process regarding treatment strategies, reproductive options, or make you eligible for certain research opportunities or clinical trials.
We are here to help you
Genetic testing – sometimes called genomic testing – finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers. You may be offered a genetic test because your doctor thinks you might have a health condition caused by a change to one or more of your genes, someone in your family has a health condition that’s caused by changes to genes or some of your close relatives have had a particular type of cancer that could be inherited.
At Schell Genetics, we are here to assist you in this process. Please don’t hesitate to contact us.
