Mae is a beautiful, caring and creative 8 year old girl who loves dancing, swimming, baking and all things scientific. She has a sister nearly two years older than her.
We first noticed something wasn't quite right with Mae at around 2 years old when she was unable to jump or climb stairs easily as a toddler. Initially we just thought she had muscle weakness and weren't concerned at all. After doing the routine checks with the GP we ended up being referred to a physiotherapist to help develop 'strength' when she was 4 years old. After only 6 weeks the physio rang me to say that she thought I needed to take Mae to a paediatrician to have her assessed; I still, had no idea that anything could be 'wrong' with her. However, after one hour with the doctor, she told me that Mae had a muscle myopia and that she needed to be under the care of a neurologist and a number of other specialist.
That day, will stand out in my mind forever. I remember going home and googling muscle myopathy - I remember just sitting on the couch crying feeling very sad and overwhelmed by what I was reading. I felt a fear that I had not felt before in relation to my children - the fear of not knowing what was coming and the fear that something was seriously wrong with Mae.
Following the referral from the paediatrician to the neurologist, Mae underwent many different tests and assessments. Some were invasive and painful, these were very hard as she was only four years old at this stage and had very limited idea as to what was happening. We didn't even really know so could only tell her 'you know how it's hard to go up stairs and to jump, well we're here to try and find out why'. In regards to neuromuscular diagnostic work and genetic panels, she has had them all and all of her tests have come back inconclusive or negative.
Mae is now 8 years old. She is still maintain a good level of functionality. Her weakness was first evident in her lower body as she is not able to run fast or far, unable to jump or climb steps easily but is now also evident in her upper body. She is no longer able to lift her head off the floor when she is on her back, she has some scapular winging and her wrist strength has decreased. Sometimes her body is achy, sometimes she gets tired really fast. We are told that she is stable and any changes are slow - for that I am thankful. We have also been told that the distribution of her muscle weakness is unusual and doesn't fit any of the known NMD.
Mae is very aware that her body is different than her peers. At times she is very sad about it and tells me she is worried people will laugh at her. She is very self conscious and has lots of questions about what this means for her future. We don't have a diagnosis so we don't have a prognosis. I struggle at times to now what language to use as we aren't sure what is happening in her body. At the same time, Mae participates in everything to the best of her ability, even if it means that she is the last on the field, the slowest runner and so forth. We are very fortunate that she is in a very supportive and kind school where the other children encourage and support her. As a parent it is hard to know what to tell her when we don't have any answers.
I have come to learn that being a parent of a special needs child is unique, one that is very hard to explain or describe to those who aren't touched by these challenges. There is a unique type of grief that not only I experience, but Mae experiences too - as does her older sister. This condition impacts the whole family in different and unique ways. I have learned that her sister needs time to share, to get angry and to also questions. The grief isn't always there, it comes in cycles and can sneak up unexpectedly in powerful ways. I used to describe it as having a very 'sad heart' that is hard to share with others.
I have also learned that not everyone wants to know about what is happening because there is no known cure nor answers, therefore it leaves people feeling helpless - this is not feeling that is comfortable for most people. Some people will never ask me about how Mae is, some will ask and then try to 'fix it' with their words such as 'at least she's happy' and so forth. As this has been our journey for the last six years and we just have to get on with living, many people don't think to ask anymore about how she is or, how we her parents might be. It is presumed that we have a diagnosis because the medical world is so advanced that it seems strange that in this day and age there can be unknown conditions.
Rare Genomics have been amazing support for me. I have been impressed that they have stayed in touch with me just to enquire how our journey is going, offering support whenever they can. At our last neurologist appointment we were told that instead of having appointments every 6 months we were moving to every 9 months, basically because they don't know what to do with Mae anymore. I am encouraged that Rare Genomics continue to help us find answers in an area that is so unknown.
“I have had the pleasure of working with the this family for almost 2 years and it has been a privilege to be a part of their journey. Throughout all of our time together they have been incredibly patient and hopeful, and I look forward to being able to provide them with more information about their daughter's health through our future partnerships!” -Qiuyin Ren, Senior Patient Advocate Associate, Rare Genomics
About Rare Genomics Institute
Rare Genomics Institute (RG) was founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases. Website: www.raregenomics.org