Caregiver
Our interviewee was a mother whose 3 year old daughter is affected by Conradi Hunermann syndrome. W started off by talking about where she finds support as a caregiver. She explained that she hadn't had any support. She said that although they haven't found anyone who knows anything in particular about the condition, but they had a very supportive child development worker. "We had a genetic
specialist who knew about the condition but he was the only one we’ve met. So,
no support at all." said she.
She told us that her daughter copes very well. She has two other sisters and she has to keep up with them, so she always finds a solution to cope and doesn't let her condition prevent her from doing anything a normal child would do. She said her daughter is short, so on a day to day basis the most we have to deal with is that she needs to find ways to reach things, "we have lots and lots of steps.". She also states that her daughter gets tired faster than her other siblings because her lungs are affected by scoliosis. She said that the major struggle they face is the fact that their daughter needs support and monitoring for the rest of her life. "It's very intrusive in her life. it’s hard to make progress as she grew up, regarding independence in things like dressing, toilet, she’s so used to being assisted with all these things that she forgets practice doing them by herself." said she.
She added that it is very hard for them to find anyone who understands the condition either from a patient or a professional perspective. According to this mother, finding treatment outcomes has been really hard for them and even doctors have been unwilling to give them prognosis because they don't understand the condition and they don;t know if treatment would have the same results on their daughter as it would have on a child without CHS. It's been quite problematic for them because they hadn't had any professional assessment of her by someone who understands the condition. She said "we’re in the dark completely. And the internet is where you expect to find information and resources but there’s nothing there.So I think it would be paramount for everyone who has any information about the condition to put it out there for people to access. And even for people who have the condition to be more active online so that there’s stuff to find."
Then we asked whether there is anything they want to ask an expert. According to her, their daughter is going to have surgery for her scoliosis and she's 3; they want to know if that's a common occurrence for surgery to be done on such a young child. She also has a curve angle of 80 degrees and they want to know if that's rare or if it's a normal attribute of CHS to have such a severe angle. They want to know what the prognosis is for her, how many surgeries is she likely to have, and what are the chances of her being fixed and completely normal. She also explained that their daughter's scoliosis as accelerated quite quicly and she's not sure if her plastic braces had any effect at all. She also adds that she wants to know how severe her scoliosis should be for organ damage and failure, and whether they have to restrict her activity.
She wants the expert to put more information available online, not only for patients but also for doctors and surgeons to contact them. She also mentioned that her daughter's scoliosis is non-idiopathic and doctors didn't understand that and she wants them to know that it's a possibility with Conradi.
Her advice to other parents is to research as much a they can before accepting advice from anyone because it's a rare condition and there are a few people who aware of this condition. She adds that because there are such a variety of symptoms, each of them need separate attention from an expert in the field. She also suggests all the caregivers or patients to create a blog or do something to improve awareness and also to support other families .
She told us that her daughter copes very well. She has two other sisters and she has to keep up with them, so she always finds a solution to cope and doesn't let her condition prevent her from doing anything a normal child would do. She said her daughter is short, so on a day to day basis the most we have to deal with is that she needs to find ways to reach things, "we have lots and lots of steps.". She also states that her daughter gets tired faster than her other siblings because her lungs are affected by scoliosis. She said that the major struggle they face is the fact that their daughter needs support and monitoring for the rest of her life. "It's very intrusive in her life. it’s hard to make progress as she grew up, regarding independence in things like dressing, toilet, she’s so used to being assisted with all these things that she forgets practice doing them by herself." said she.
She added that it is very hard for them to find anyone who understands the condition either from a patient or a professional perspective. According to this mother, finding treatment outcomes has been really hard for them and even doctors have been unwilling to give them prognosis because they don't understand the condition and they don;t know if treatment would have the same results on their daughter as it would have on a child without CHS. It's been quite problematic for them because they hadn't had any professional assessment of her by someone who understands the condition. She said "we’re in the dark completely. And the internet is where you expect to find information and resources but there’s nothing there.So I think it would be paramount for everyone who has any information about the condition to put it out there for people to access. And even for people who have the condition to be more active online so that there’s stuff to find."
Then we asked whether there is anything they want to ask an expert. According to her, their daughter is going to have surgery for her scoliosis and she's 3; they want to know if that's a common occurrence for surgery to be done on such a young child. She also has a curve angle of 80 degrees and they want to know if that's rare or if it's a normal attribute of CHS to have such a severe angle. They want to know what the prognosis is for her, how many surgeries is she likely to have, and what are the chances of her being fixed and completely normal. She also explained that their daughter's scoliosis as accelerated quite quicly and she's not sure if her plastic braces had any effect at all. She also adds that she wants to know how severe her scoliosis should be for organ damage and failure, and whether they have to restrict her activity.
She wants the expert to put more information available online, not only for patients but also for doctors and surgeons to contact them. She also mentioned that her daughter's scoliosis is non-idiopathic and doctors didn't understand that and she wants them to know that it's a possibility with Conradi.
Her advice to other parents is to research as much a they can before accepting advice from anyone because it's a rare condition and there are a few people who aware of this condition. She adds that because there are such a variety of symptoms, each of them need separate attention from an expert in the field. She also suggests all the caregivers or patients to create a blog or do something to improve awareness and also to support other families .