Just a friendly reminder internet that Rare Disease day is coming up at the end of February. It’s held on the last day of the month and is geared towards raising awareness about rare diseases and their impact on the patient’s lives.
You are probably asking “Huh? What’s that?” and I completely understand, because up until about a year ago, I also had no clue something like that existed, nor had any reason to research it.
A Diagnosis Doesn’t Provide Much Clarity
My daughter Lydia was born with something called CMTC, or cutis marmorata telangiectatica congenital. There are fewer than 300 reported cases of this disease, but that doesn’t mean there aren’t more like Lydia out there. She has a mild, yet extensive case – but luckily it’s not proven to cause any developmental issues. CMTC is described, per Wikipedia, as “an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network.”
In all honesty, the reason I’m even writing this is because there is not that much information out there about CMTC. I want other parents to know they aren’t alone. Our diagnosis didn’t immediately turn on a light bulb of clarity. I’ve found a few Facebook groups, but typically when Googling CMTC you just get medical documents. You rarely find real life people telling their stories and talking about their experience or their child’s experience with CMTC.
I remember searching and feeling hopeless; I wanted to know what to expect. Would this somehow negatively affect her growing up? Will her markings fade? Will her marking make her a target at school? Will her leg difference cause her issues with walking? There just were not any answers to be found. There were no experiences to read up on.
There’s Not One Type of Rare When It Comes to CMTC
Everyone’s situation with CMTC is different because it exists in varying degrees. Some have extensive markings light in color. Some have just one limb affected with darker lesions. Some people can also experience glaucoma, neurological abnormalities, or psychomotor and mental retardation.
Lydia’s markers for CMTC starts with a large vascular malformation (light in color, looks more like a bruise) that spans across her back, wraps around her stomach, and then goes down her right leg. Due to this, her skin is very sensitive (mosquito bites are a nightmare, she gets eczema, and bad diaper rashes). It is considered mild because her markings are not as dark as others with CMTC.
She also has body asymmetry as her right leg is also slightly smaller in circumference than her left. There are no treatments available for CMTC, though some who experience body asymmetry in terms of a longer leg, for example, can get elevation devices or lifts.
There Are a Lot of Possibilities, but Not Many Certainties
When we went and spoke to the geneticist early in January, he told us that there is a chance that Lydia will grow out of her markings and that her legs will even up to the point that only my husband or myself might be able to see it.
There could be a day that Lydia sees a photo of herself as a newborn and says “What’s that all over me?” because her markings have almost disappeared. On the scarier side of her diagnosis is that she carries this gene and can pass it on to her children if she decides she wants children. She could pass on a more extreme case with darker lesions and varying other symptoms. That’s a discussion that we will have with her at a later date.
Rare Disease Day: Celebrate Those Who Were Born Rare
So, on February 28, 2017, don’t forget to celebrate those who were born rare. There are several ways you can get involved; you can donate, volunteer, spread the word, or just give a hug to your rare friends and family. Don’t forget #CareAboutRare.
CMTC-OTV: Rare Beyond Compare Conference
All Images: Provided by Author, Used With Permission