dysplasia Spondyloepiphyseal (Czech dysplasia) mutation of the COL2A1 gene

We are from from São Paulo, Brazil and we made this blog so that we could communicate with other parents or people in the world with the disease spondyloepiphyseal dysplasia (Czech Dysplasia), a mutation of the COL2A1 gene. 

By the end of 2015, our daughter Maria with 10 years old, started having a change in the walk, we thought it was normal because she was in her early teens. The change persisted, so in mid-February 2016 we took the orthopedist who confirmed it was due to the famous adolescence period. Well ... We stayed calm with the news and we took our life as always ... in July of this same year (2016) during the school holidays, I realized that this change worsened and I went to check how there was her mobility ... Was not possible to hugging her own knees when laying, to sit and put her torso on her legs it was not possible ... Crouching and picking something up on the floor was not possible! We stayned in panicked! Soon after we consulted with another orthopedist, who had an image exams at the time, she confirmed that the femur was not properly seated in the basin, she had hip dysplasia! The treatment would be surgical at the end of 2016, but without guarantees of no sequelae and because it is a large surgery, it might not be possible to operate both sides of the femur at the same time ... Obviously we do not accept this diagnosis and we went on the search for new doctors and, with the help of our friends, we were able to get to an orthopedic doctor who asked for new exams  of various positions (image exams), resonances and blood tests ... After the exams were done, the doctor could not give us a diagnosis, because the case was really complicated and asked the opinion of a rheumatologist. We went to the indicated rheumatologist, who had already spoken with the orthopedist and knew the complexity, and asked for new exams. Of face the doctor already knew that she had arthritis in the knees and hips, but and this problem of dysplasia ?! What was? This question has passed into everyone's head ...

Well, medicated for arthritis and starting hydrotherapy to improve mobility, we went again to perform new exams... One of the feet was deformed, due to the need to compensate for the gait ... But we did not have the disease name yet ... Maria continued to grow normally...Without name of the disease, they can not indicate the best treatment, so we were indicated to look for a geneticist, who had also seen the exams through rheumatologist, who asked for a genetic test.

The result arrived on December 27, 2016, confirming the spondyloepiphyseal dysplasia (Czech Dysplasia) / Pseudoreumatoid, mutation of the COL2A1 gene. Having only 18 confirmed cases in the world until then, being Maria the 19th. (first into Brazil) case registered. The other registered cases are from Czech Republic and one from Japan, and we (parentes) have Japanese and Italian descent. We have another daughter with 10 years old, but she does not have (so far) symptoms of the disease that is genetic condition. We (parentes) also do not know similar cases in the family and we do not have disease Maria has.

Maria as from our from the first visit to rheumatologist did has hydrotherapy for months, after solo physiotherapy for almost a year and currently is only doing 2x pilates in the week. She has been taking medication for arthritis for about one year and now only takes a chondroitin-based supplement.

Currently Maria, 13 and a half years old, has stopped growing and is 1.55 in height (stature considered normal), the change in gait is almost imperceptible but the limitation exist and the only treatment is prosthesis surgery that can be done only when she is 30 years old.

In addition to the lack of mobility, one of the characteristics of the disease is also shortening the fourth metatarsal of the feet, in which we are waiting to perform the surgery in a few weeks.

I hope to be able to communicate with people who have this disease and also hope to help other parents not give up and seek help when they believe something is wrong ...