Rare childhood diseases: the crucial role of early detection

What are the most common rare childhood diseases?

First of all, we must remember that there is no single meaning for the Rare diseases . This varies substantially depending on the geographical area. In any case, we will use the European Union nomenclature, which considers a rare disease to be one with a prevalence of less than one case per 2,000 people or  5 per 10,000 people .

When we talk about rare childhood diseases, we need to be even more specific because their prevalence is lower. In any case, these do have a more common incidence than others: hemophilia, Tourette syndrome, Rett syndrome, Duchenne disease, cystic fibrosis , Angelman syndrome, spinal muscular atrophy or  Fragile X syndrome . Some diseases may be of genetic origin and others may not, depending on the case, or partially influenced by genetics.

But, although all these diseases are diverse and distinct, there is one common thread: early diagnosis can be beneficial in several ways. Therefore, it is important to analyze them carefully, and that is what we are going to do.

Advantages of early detection in rare childhood diseases

The early detection In rare childhood diseases, screening can sometimes be performed even before birth, with prenatal testing. Another option, covered by most public health programs, is the so-called heel prick test. Be that as it may, we must point out that there are numerous advantages to early detection. These are the most important ones you should know:

1. Less paperwork to locate the problem

One of the recurring problems among families of children with rare diseases is the screening process and the procedures they must complete beforehand. This is often complicated because the symptoms are confused with those of other diseases. Therefore, the first advantage of early diagnosis is that it can be carried out quickly. less paperwork to locate the disease and treat it correctly. Consequently, less time is wasted on procedures and tests.

We must point out that screening, whether natal or prenatal, can minimize this waiting time. Therefore, it's not surprising that systems for detecting rare childhood diseases are becoming more widespread. If this isn't covered by the public health system, it could be done through laboratories that currently offer these tests at an affordable price.

2. Detection of rare childhood diseases: better life expectancy

In certain rare diseases, especially those of genetic origin, a Early detection improves life expectancy . On the one hand, because life expectancy itself is prolonged. But also because the child's quality of life will, in many cases, be substantially better. Not surprisingly, this is time that is not wasted and can be used to reverse physical deterioration, prevent it (certain muscle atrophies), or, at the very least, halt or slow it down.

However, it's true that life expectancies can vary significantly depending on the disease. Regardless of the types of treatment available, this variable must be taken into account.

3. More effective treatment

He most effective treatment This is another advantage derived from an early diagnosis of these diseases. The reason is very simple: the less deterioration or duration of the disease, the greater the chances of successful treatment. But, in addition, early diagnosis also serves to correctly analyze the context and the situation. For this reason, treatment of these diseases is easier.

The effectiveness of a disease will vary depending on the case. However, the variable of time is always very important, and the chances of success will increase.

4. It's easier to reduce side effects

The side effects Treatment costs can also be reduced relatively easily if detected early. The reason? Initially, experimental variables are sometimes introduced because there's a certain amount of room for testing. If the disease is detected at an advanced stage, this issue must be addressed to prevent worsening. Therefore, not only are treatments more effective, but they can also be less invasive for patients.

Let's remember that the side effects of treatments for rare diseases can be especially painful. Therefore, the more we can do to minimize them, the better.

5. Cost reduction for all stakeholders

Reducing economic costs is another important point to consider. And, it goes without saying, it will benefit families, but also public health systems. The sooner we know what's happening, the sooner families can benefit from programs. orphan drugs and treatments. If there's a problem with these diseases, it's that they're very expensive if there isn't one. Ultimately, beyond the humanitarian aspect, it's also cheaper.

6. Minor psychological impact

Rare childhood diseases generate a psychological impact In the person suffering from it, if they are aware of it, but also, and above all, in their adult relatives. However, it is true that the sooner this circumstance is recognized, the more manageable the situation is. This ultimately helps, and substantially, in caring for the person living with the disease, because support for parents and family members is also important.

Let's keep in mind that stress is a problem that also substantially reduces life expectancy. For this reason, it's important to clarify any concerns as soon as possible, so that patients and their families can avoid anticipating them.

In conclusion…

Rare childhood diseases require special treatment, so the earlier they are detected, the better. Furthermore, many of them have a genetic origin, which is why testing is important. Genotics You'll find a comparison tool to find the best test for you based on price, type, and delivery time. Contact us for more details!