A rare disease usually concerns only a handful of patients, but all patients with a rare disease combined represent a significant health burden. Due to limited knowledge and the absence of treatment guidelines, patients with rare diseases usually experience delayed diagnosis and suboptimal treatment. Historically, rare diseases have never been considered a major health problem. However, rare diseases have recently been receiving increased attention. In the Netherlands, a national plan for rare diseases was published in late 2013, with recommendations on how to improve the organisation of healthcare for people with rare diseases. Using the example of the rare disease Fanconi anemia, this paper describes the challenges and opportunities in organising healthcare for rare diseases. Two critical steps in optimising healthcare for rare diseases are developing multidisciplinary healthcare teams and stimulating patient empowerment. Optimal cooperation between patients, patient organisations, multidisciplinary healthcare teams and scientists is of great importance. In this respect, transition to adult healthcare requires special attention.
Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities characterised by cellular cross linker hypersensitivity. FA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals with FA have a high risk of developing acute myeloid leukaemia (AML) and squamous cell carcinoma. An increased cancer risk has been firmly established for carriers of mutations in FANCD1/BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. Both FANCD2 alleles were present in the T Cell ALL and the seminoma. This links specific FANCD2 mutations to T cell ALL and seminoma without evidence of allelic loss in the tumour tissue.
Related JoVE Video
Journal of Visualized Experiments
What is Visualize?
JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.
How does it work?
We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.
Video X seems to be unrelated to Abstract Y...
In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.