I am a #RareDiseaseAdvocate because I love someone who is rare

Rare Disease Awareness emblem for Clara and M-CM Syndrome

Today is Rare Disease Day, which is a day meant to spread awareness about rare diseases.  My daughter Clara has M-CM (aka MCAP) Syndrome, which stands for Megalencephaly Capillary Malformation Syndrome. M-CM is very, very rare, and not a lot is understood about the syndrome.  There are only around 200 people diagnosed with it worldwide.  M-CM causes body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs.  We know that M-CM is a spectrum, so some children have only a few issues and some children are affected with more serious neurological symptoms, delays, and/or health problems. The children we've met online are beautiful, brave, and very strong.

M-CM is the reason for most of the health concerns Clara has had in her young life, such as: her heart conditions (PDA, ASD, Enlarged Heart, and Fetal Atrial Flutter), Pulmonary Hypertension, Macrocephaly, and her gross motor and speech delays. We have been very lucky that most of her issues are fixeable, maneagable, and/or mild so far.  We feel incredibly blessed to be followed by a number of medical experts at Sick Kids hospital, as well as Early Intervention, who all care so much about Clara.

As for Clara's future, we think it will likely take her longer to walk and talk, and she may have some ongoing health issues, she may even have some delays, but we feel that her future is still bright. She doesn't let anything stop her so far. We are so proud of Clara and love her with all our hearts!

Here are some links with more information:

M-CM Network - Some of the other online info about the syndrome is out of date and/or innacurate.  M-CM.net is run by Christy Collins, an M-CM Mom and advocate. M-CM.net provides the most accurate and up to date info about M-CM.

Rare Disease Day - is an initiative to raise awareness about all types of rare diseases (not just M-CM.)It

If you want to know more about M-CM Syndrome, feel free to contact me!

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