Baby Health Check:
Importance of early diagnosis
of rare diseases
Rare Diseases are diseases that affect only a small number of people. What rare means differs by region. In Europe, a disease is considered rare if 1 in 2000 people have the disease. In the United States, a rare disease is defined as affecting less that 200,000 people in the country. This is complicated more because a disease can be rare in one region but common in another.
It is estimated that between 6,000 and 8,000 rare diseases have been identified and described in medical literature. Most of these diseases have a genetic origin and between 50-75% of these are observed in the newborn period or childhood, such as Spinal Muscular Atrophy, Phenylketonura, Galactosemia, and many others.
While there is no cure for most rare diseases, appropriate treatment and medical can improve the quality of life and life expectancy for those affected.
Diagnosis of rare diseases takes an average of
Rare Diseases can already manifest themselves in childhood1
Why Is Early Diagnosis of a Rare Disease So Important?
Over 80,000 babies each year are born with an inherited genetic disorder. All are treatable and early diagnosis is paramount to the success of managing these life-threatening disorders.
Starting treatment for rare diseases before symptoms appear is essential because early intervention can significantly slow disease progression, prevent irreversible damage, and improve long-term outcomes. Many rare diseases are genetic and progressive, meaning that damage can begin at a cellular or organ level long before noticeable symptoms arise. By beginning treatment early, patients have a better chance of maintaining normal development, avoiding severe complications, and improving quality of life. Early treatment can also reduce the overall burden on families and healthcare systems.
Who should be examined using the Baby Health Check?
This program is ideal for newborns because it allows for the early detection of serious, often hidden health conditions before symptoms appear, enabling timely treatment.
Additionally, this program is available for older children who missed screening at birth or come from regions without comprehensive programs could also benefit. In such cases, late screening can still identify treatable conditions that may explain developmental delays or other health concerns, providing a path to better care and improved outcomes even beyond the newborn period. This means that relatives can be tested without any complications.
The strength of the program lies in the simplicity of sample collection and the rapid availability of highly reliable results.
Opportunity for early diagnosis
This gives people and the doctors who treat them the opportunity to rule out these target diseases, even in the case of mild and unspecific clinical signs. Baby Health Check offers low-threshold access to advanced diagnostics.
Especially with rare diseases, an exact classification is often difficult at the beginning. Diagnosis therefore often takes a long time and the start of treatment is delayed.
This test can then be carried out at an early stage. Areas of application include unclear family history, delayed developmental milestones, unexplained enlargement of the liver or spleen, muscle weakness, unsteady gait and frequent stumbling, children with motor coordination difficulties, recurring fever, unusual courses of infections, or increased complications after vaccinations.
The testing process
Please use the Baby Health Care blood collection kit. You can obtain this free of charge from us using the order form. The blood sample is taken after the test person or legal guardian has been informed and has given their written consent.
1. Sample collection
Possible any time and anywhere. Either as part of the newborn screening or at a later date by doctors, midwives or nursing staff.
2. Laboratory examination
Precise analysis in a specialized laboratory.
3. Diagnosis and advice
The findings are transmitted via our WEBPORTAL. Discussion of findings and advice on treatment options is provided by the doctors in charge.
4. Care and therapy
Personalized medication and interdisciplinary care for patients and their families, cooperation with specialists, expert centers, associations and self-help groups.
Process
Duration of the analysis
It takes up to ten working days to carry out the laboratory diagnostics. The referring physician is notified when the sample arrives at the laboratory and the medical findings are completed.
Inconspicuous findings
The blood sample is unremarkable in the biochemical analysis. It is then uploaded to the web portal, the referring physician is notified and the findings can be retrieved in writing.
Conspicuous findings
The aim is to achieve a high level of certainty in the results. In the first step, the blood sample is analyzed biochemically. If the result is conspicuous, genetic testing is carried out in a second step, usually from the same sample.
Accreditation And Validation
All laboratory tests are subject to the strictest controls and are regularly checked in international interlaboratory tests and are fully validated in accordance with the requirements of ISO 15189. These validations are externally verified by the Accreditation Austria authority.
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- Rare Diseases at FDA, https://www.fda.gov/patients/rare-diseases-fda
- About rare diseases, https://www.orpha.net/en/other-information/about-rare-diseases
- Plaiasu V, Nanu M, Matei D. Rare Disease Day – at a glance. Maedica (Bucur). 2010 Jan;5(1):65-6. PMID: 21977122; PMCID: PMC3150084.
- Chung CCY; Hong Kong Genome Project; Chu ATW, Chung BHY. Rare disease emerging as a global public health priority. Front Public Health. 2022 Oct 18;10:1028545. doi: 10.3389/fpubh.2022.1028545. PMID: 36339196; PMCID: PMC9632971.
- Cooper K, Nalbant G, Sutton A, Harnan S, Thokala P, Chilcott J, McNeill A, Bessey A. Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy. Int J Neonatal Screen. 2024 Aug 14;10(3):56. doi: 10.3390/ijns10030056. PMID: 39189228; PMCID: PMC11348213.
