Her wrists hurt, suddenly and inexplicably. At first the right is the most painful, but then the other starts to give her problems too. The pangs become more and more frequent, both day and night, so much that they stop her movements. Maya is a teenager, she doesn’t know what to do, she doesn’t know what to think, she feels alone and doesn’t find answers, until she decides to talk about it with her parents. Then the specialist visits begin. “I also had to ask my parents for help to wear clothes, because the pain in my wrists did not allow me to move – explains Maya Colombo, who is now 42 years old, is a socio-health worker, and has decided to retrace her story to make known the disease that struck her – I was attending art school and finding myself with a much reduced manual skill was a shock, an insurmountable limit for me. I spent my days crying. The doctors could not understand what was the origin of my pain “.
Then, the diagnosis finally arrives: Madelung Deformity, a rare disease that affects the wrists, deforming them and causing a lot of pain. In Italy, the disease is not associated with an exemption code, so it is not possible to establish the number of cases. And even abroad the pathology is little studied. In Italy, however, there is a specialized center for this pathology, the ASST Gaetano Pini-CTO of Milan. Here Maya undergoes surgery on her right wrist, the one that presented the most problems. And so it slowly regains its full functionality.
Before her, only her grandmother in the family circle had had similar problems, but she did not seek medical attention. Maya later discovered that her daughter also inherited the disease. “We were aware that during adolescence the first pains could have arisen because a genetic test highlighted in my daughter the mutation that involves the Deformity – explains Maya – But she, who is no longer able to hold the pen to write, she is much luckier than me, because my experience and everything I have lived and learned on my skin regarding the disease is a heritage that I can share “.
What is it and what are the symptoms
Madelung’s Deformity is a very rare congenital disease thought to be caused by a genetic mutation, but knowledge is still scarce. It affects the growth plate of the radius, the lateral bone of the forearm between the wrist and the elbow, causing it to develop out of the ordinary. In practice, the radius is not aligned with the ulna, the other bone of the forearm which in normal conditions is parallel to the same radius, and the wrist is deformed. As with Maya, symptoms do not appear until adolescence, so unless there is a diagnosed case of Madelung’s Deformity in the family, the patient will only know they have the condition when the wrist is already compromised. “Scientific research so far has established that the disease is found more frequently in female subjects (the ratio of males to females is 1: 4) and begins to manifest in second childhood, from 2 to six years, or in adolescence – says Perluigi Tos, Director of Hand Surgery and Reconstructive Microsurgery of the ASST Gaetano Pini-CTO – In a third of cases it is bilateral (therefore it affects both wrists) and involves both a progressive alteration of the wrist and hand profile (defect aesthetic) is a strong limitation of the range of motion “.
Difficult to diagnose
Due to the rarity of the disease, diagnosing Madelung’s Deformity is not easy. Described for the first time in 1878 by the German surgeon Otto Wilhelm Madelung, still not much has been published on the etiopathogenesis of the disease, i.e. on the causes and evolution, even less on the possible surgical treatment. “Referring to the few cases described in the literature, in the 1990s, I started practicing, on selected patients, a so-called ‘inverted wedge’ osteotomy of the radius, associated with an osteotomy and shortening of the ulna, to obtain congruence between the two bones and correct the deformity ”- explains Ugo Dacatra, surgeon specializing in hand surgery at ASST Gaetano Pini-CTO, one of the few specialists in Italy to opt for surgery for the treatment of Madelung’s Deformity. “Given the low number of operations, elsewhere there is a tendency not to intervene on patients with Madelung, however condemning them, in most cases, to disability”.
Maya’s appeal
Maya has created a Facebook group dedicated to those with this disease and to those who want to know more. “We patients with Madelung Deformity ask for greater interest from the institutions – he concludes – We would also like to be supported by the scientific community and the world of associations, as is the case for many other rare diseases”.
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