Darcy's Page

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Girl Power 2 Cure funds research through RSRT. Click to view the projects

 
Special Thanks for Darcy's 2017 Donors
Deepthi Menon Emilie St-Pierre
Brandon Magness Nancy O'Brien
Merrily Porter Amy Etchberger

Darcy's Story

As you may know, our darling Darcy has had some developmental delays that became evident around her 1st birthday. She started physical therapy and speech/feeding therapy when she was 13 months old (June 2016), with slow but steady progress. She was diagnosed with mild hypotonia, which means that her muscle tone is lower than it should be, which makes her movements floppy and difficult. She has yet to crawl or walk, but is making progress. Eyeglasses were prescribed for her in January 2016, due to strabismus (lazy eye).

In September of 2016, we went to a pediatrician-recommended appointment with a pediatric neurologist, who ordered a brain MRI and a slew of blood tests. There was one test that we were waiting and waiting on, and it’s not clear what happened with the original blood sample, but we ended up taking Darcy back to the lab for a re-test for that test that had been pending yet inconclusive. In November 2016, we got the call from the neurologist that the test, which was a genetic test for a neurodevelopmental disorder called Rett Syndrome, came back positive.

So, now we have a named condition for why our child has developmental delays. It’s Rett Syndrome. Odds are you’ve never heard of it – only 1 in 10,000 girls is diagnosed with it. Rett Syndrome is a neurodevelopmental disorder that affects speech and purposeful hand movements, meaning that it is likely that Darcy will not talk, and will have to have assistance with activities of daily living. It is a non-inherited genetic mutation disorder that occurs almost exclusively in girls. We’ve learned through our countless hours of reading and research on Rett Syndrome that it is not caused by anything we did, or didn’t do – it was a fluke mutation that occurred randomly.

In December 2016, we saw a pediatric neurologist who focuses on Rett Syndrome individuals, along with a smattering of pediatric headaches and epilepsy disorders. We like him. He began the visit by asking us about Darcy's development (gross and fine motor skills that she has), and reviewed what her particular mutation is. There are different types of genetic mutations that can occur, and Darcy’s particular type is p.Pro152Arg, or p.P152R. He informed us that this mutation is typically more severe, characterized by the spectrum of types of mutations that can occur. However, he did say that Darcy’s presentation of clinical symptoms is mild compared to other Rett Syndrome girls he has worked with in his years in pediatric neurology. He even went so far to say that Darcy’s presentation of Rett syndrome is categorized as atypical. We took that as good news. We’ll follow up with him in the spring to monitor Darcy’s progress in many arenas – developmental, neurologic, muscular, digestive, and respiratory. In the meantime, we will continue with speech/feeding therapy, PT, OT, and encouraging as much autonomy as Darcy can muster in terms of feeding herself (purposeful hand movements).

So, we at least have a named condition and a reason as to why Darcy has had such difficulty with gross and fine motor development. We are learning to live for today, and maybe tomorrow – but to stop planning our lives 20 years ahead, because none of us have a crystal ball that can accurately predict the outcome of Darcy’s condition, or anything in life, really. Thanks for reading, and for all the kindness and support. <3