Luisa - Distal Arthrogryposis Multiplex Congenita

    Luisa - Distal Arthrogryposis Multiplex Congenita


    Meet Luisa! She is currently 23 years old and has Arthrogryposis Multiplex Congenita. She was born with muscle weakness, hypodysplasia, stiff shoulder joints, and scoliosis. Due to this disease, she required surgeries due to her motor functions not working as well as they should. She always seemed to be a bit clumsy. Luisa actually went undiagnosed for quite some time as her doctors didn’t realize it was a neurological disease that was causing problems to her body. They originally thought that it was just an orthopedic problem.


    When Luisa was going through puberty, her neurological symptoms got much worse. She told me that she had gotten Ataxia and began to have more problems standing up and with her balance. Due to this, they began testing her for any genetic problems, but couldn’t find anything wrong. At the age of 15, Luisa got her first wheelchair. She was often treated as if she was healthy, since no one could truly diagnose her. Many doctors felt that she didn’t even require the use of a wheelchair. All this because she went undiagnosed. Hiding her disability was hard, because she seemed to develop extreme nerve pain and all of her other symptoms only worsened. 


    As stated before, Luisa went undiagnosed for quite some time. After she lost muscle control in her legs and could barely walk, she began to search for a diagnosis somewhere else, knowing she wasn’t going to receive it from her doctors. After some time, she got a new neurologist that genetically tested her and finally told her the diagnosis. She had a PIEZO2-Gene that was defect. Her disease is autosomal recessive and nobody actually knows how to treat it yet. She was lucky to find a doctor that could diagnose her, but no one was familiar with what the disease even entailed. She has done a lot of research and found only a mere 2 people on the internet with this gene defect, both of them being toddlers. She couldn’t compare her symptoms and whatnot with other patients. Her disease is supposedly different that others and affects mostly the central nervous system. 


    “My disease is called: Distal Arthrogryposis with impaired proprioception and touch.

        Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood.”


    There aren’t many people in this world with this disease (as stated before, she had only found 2 others with this disease), because this special kind of genetic testing is fairly new, about 1 or 2 years old. She hopes that there will be more people who get their diagnosis so they’re not left in the dark and left undiagnosed. Being undiagnosed is a scary thing. You know you have something wrong with you, but you don’t know what. Luisa doesn’t wish this upon anyone. With more people getting their diagnosis, there will be more research available.


    Luisa is 23 years old. She is married and currently lives in the north of Germany with her husband and her dog. She will start attending school in order to become a speech therapist soon! She says, “I started with the whole instagram thing to finally accept my disability, spread awareness, and to reach out to other people with similar problems. If you have such a rare disease, it’s hard, because you have to be your own advocate. You have to decide when it’s time to use a wheelchair, a cane, or any other mobility aid. There’s nobody you can compare yourself to. Instagram helps me a lot and I got in contact with so many beautiful disabled people, especially people with similar nerve diseases who understand me. It feels good to know that I am not alone with these kinds of problems.” Social media platforms, like Instagram, are a good way to connect with other rare disease patients. In fact, social media is how I found the people I interviewed for this blog!


    I asked Luisa how her disorder affected her social life with family and friends growing up and she told me that it was hard. “It was hard sometimes, I always felt that I was different and I was always ashamed of it and thought that my disability was my own fault. I got bullied in school. I had to wear an orthopaedic corset for 8 years. I think my family is overstrained sometimes. Some of them don’t even know that I have an actual disease. They always thought that I just have some dysplastic joints. I think it’s generally hard to accept for healthy people and it’s possible to be chronically ill and still look ‘normal’ to them. I think some of them still think my mobility aids are a burden, but they mean a lot of freedom for me actually. Most of my friends today also have a disability. It’s easier, because they know how I feel and experienced similar things.” No one should be bullied just because they’re “different.” I wonder when this world will become more inclusive of everyone.


    Luisa tells me that she is very lucky, because her husband has a good job. Due to this, she doesn’t necessarily have financial problems. In Germany, she tells me, it’s possible to get financial support, if you are too disabled to earn money by yourself. It’s difficult to get that support and they control the income of the partner too. She doesn’t have the chance to always get extra support. Health insurance pays for a large part of Luisa’s medication and mobility aids. She does end up having to pay a small amount and she says that it is a burden on the purse. She will start education as a speech therapist next month and hopes to earn money in the near future.


    When asked about her and her family’s initial reaction to finding out she had the disorder, she told me, “It seems to be weird, because most of the people think that a diagnosis is nothing to be happy about, but it was one of the best moments in my life. We were searching for so long and now I had all the proof for all my symptoms. When my parents heard about it, they were a bit worried, especially of the possible muscular atrophy. But most of my family doesn’t understand it, because my illness is so complex and some of them didn’t even know that I was searching for it for so long. Most of my family members live in the south of Germany and don’t get to see me that often.” Luisa has a little sister who also has scoliosis and hip dysplasia, but doesn’t necessarily have any neurological symptoms. She hasn’t gotten tested yet.


    Luisa’s daily life consists of having a lot of physical therapy and doctor appointments at the moment. She tries to handle the household work as much as she can. She tells me that she is a Spoonie, “spoonies may appear healthy and able-bodied, especially when they are young.” Luisa has to rest a lot and she tells me that she is in pain always, which is why she is getting new medication that makes her sleepy. Luisa’s family has a dog and she’s always trying to take walks with him as much as she can. She knows her daily life will change a lot in a few days, when she starts pursuing a career as a speech therapist. She’s extremely nervous, because of her low energy levels, but this doesn’t stop her excitement to get out of the house, have something to do, and find new friends!


    I asked Luisa to tell something to the world and she said, “I would tell them to be more tolerant and that disabilities don’t have to always be visible. I would tell them that people with disabilities are normal people like everyone else. It still seems like most of the people don’t know how to react to someone with a disability. They stare and they act so awkward. There’s also still a big problem with Ableism. Her in Germany, most of the people don’t even know what Ableism is. It’s like they don’t want to admit that there’s a problem with it. And if you’re young, there will always be people who won’t believe that it’s possible to be chronically ill that young. There are so many problems with people who stay unspoken, because abled people don’t care or don’t admit that they even exist. That needs to be changed!” That is absolutely true. People with disabilities are often frowned upon, and that shouldn’t be the case!! People with disabilities are still human and should be treated that way!


    I absolutely loved interviewing Luisa, and you can even check her out on her Instagram @wunderkrabbe.


    Unfortunately, I could not find links regarding this disease since it is so rare. If you do find a link, please email me at anishay@theraredisorderjournal.com!


    - Anisha Yellamraju



  • (no comments)

Recent Entries