How living with a rare genetic disease affects you

Living with a rare genetic disease: main effects

The rare diseases , when they occur in a ratio less than one in 2,000 individuals They cause various problems. And, of these rare diseases, approximately 80% are genetic alterations. Therefore, it's important to know the possible effects. Of course, anything related to early diagnosis can substantially help make life more bearable for those who suffer from it.

While it is true that progress is being made in the research into rare diseases , it is no less true that, in some cases, these still do not treat a large part of the ailments. Some of the most common rare genetic diseases are Fragile X syndrome, Marfan syndrome, Moebius syndrome, Netherton syndrome, amyotrophic lateral sclerosis (ALS), Prader-Willi syndrome, Hutchinson-Gilford progeria, Henoch-Schönlein purpura, congenital insensitivity to pain or Tourette syndrome. Some are better known, and others are not, but, in any case, they imply an additional challenge for those who suffer from them.

It's worth mentioning the main effects a person with these diseases faces. Take note, this will be of interest to you:

1. More complicated diagnosis

He more complicated diagnosis This is one of the added difficulties of a rare disease. Although the heel prick test can be useful for common diseases, it is not the case for others. Furthermore, since these conditions have a very low incidence, they tend to have fewer specialists who can treat them, which also contributes to this delay. Finally, let's remember that some rare genetic diseases manifest late, not during childhood.

This is where genetic testing can be helpful in making a diagnosis. Especially if the symptoms are not very severe, the disease may be silent. A marker test could indicate whether you may have a mild form of a rare genetic disease.

2. Shorter life expectancy

Living with a rare genetic disease usually makes you have a Shorter life expectancy . It is estimated that those with these conditions have a mortality rate of approximately 10% at 5 years and 20% at 10 years. However, and this is very important, depending on the disease and also when it is diagnosed, these rates can improve.

One of the main problems is not knowing you have the disease and, therefore, not being able to receive adequate treatment. This is another factor that reduces life expectancy. However, it should be noted that these conditions can vary substantially depending on the type of disease, and that there are rare diseases that allow for a good, quality life expectancy.

3. Living with a rare genetic disease: more difficult access to medications

Rare diseases have an added problem, which is that of access to medicines . Because of their low impact on the population, pharmaceutical companies' incentives to research and innovate are reduced. Although public institutions in some countries are trying to alleviate this situation by creating orphan drugs, It's true that the process is longer and more complicated. That's precisely why it's important to know as soon as possible whether you have this problem or not.

Therefore, a significant proportion of people who have to live with a rare genetic disease face this added difficulty. This is an element that also widens the gap in achieving a good quality of life depending on the country. Although Spain has a good rate of orphan drug launches, sometimes not all demand is met or covers poorly .

4. Need for specific personalized assistance

The problems surrounding rare genetic diseases are very varied. In some cases, such as fragile X syndrome, we speak of cognitive delay. Another case, amyotrophic lateral sclerosis (ALS), causes mobility problems and, ultimately, breathing problems. We can also discuss cases such as Marfan syndrome , which causes various problems, including mobility, heart and vision problems.

The reality, taking into account all these factors, is that the specific assistance becomes necessary In many cases, and in rare genetic diseases, once again, the greater need for care is combined with a shortage of qualified specialists.

5. Mental health problems

The mental health issues It is also associated, to a greater extent, with those who have to live with a rare genetic disease. On the one hand, they have to deal with a lack of social understanding, which, if already significant with mental illnesses in general, is even greater with respect to rare diseases. Lack of awareness of the problem , in these cases, is an additional situation that can be difficult to manage.

Rare genetic diseases also often entail additional difficulties in daily functioning, which also affect mental health. Consequently, having a additional psychological support becomes a fundamental element.

6. Higher economic costs

Finally, it should be noted that this type of diseases behave higher economic costs for those who suffer from them. An added drawback is that, in many cases, there is no specific legislation, or the degree of dependency alone does not justify a benefit. All of this, in the end, means that the harm is also economic in nature.

It is true that, in some cases, such as that of the ALS is being legislated specifically. But, unfortunately, many rare genetic diseases are still not adequately covered.

In summary…

Living with a rare genetic disease often creates additional difficulties, which is why knowing the risks and whether you have one is essential. Genotics You'll find a genetic test comparison tool so you can check your results based on your needs. Get to know us better!