Cutis marmorata telangiectatica congenita (CMTC) “Today is a bad pain day, and I am at my wits end.” Lynn explains, one particularly difficult day. “Those who suffer know what I mean. And those who are parents, know that it’s not anything you have done wrong.”

Lynn is a 43-year-old woman living with CMTC in Texas. Cutis marmorata telangiectatica congenita (CMTC) is a rare condition that mainly affects the blood vessels of the skin, and is visible at birth or soon thereafter.

Lynn received an accurate diagnosis when she was 37 years old and is currently exploring her treatment options in Texas. Over the years, she has seen primary care and emergency room physicians, neurologists, dermatologists and vascular specialists, and has received no less than three different diagnoses. One doctor went so far as to say it was “her own kookiness in her head” that made her feel symptoms. Another neurologist called it a “rash”.

When she was born, the doctor did not mention Lynn’s leg to her mother. It was only when she changed the baby’s diaper that her mother noticed and asked her doctor for a diagnosis.  Lynn was diagnosed with a congenital hemangioma/port wine stain. As an infant, Lynn’s father brought her to the Chelsea Naval Hospital near Boston for evaluation, where they stated it should clear up with age. As a teenager, because Lynn felt self consciouswere going to do laser – the predominant treatment at the time, but Lynn rebelled as teenagers do, and never went.

Thankfully, Lynn had no serious issues growing up, but there were what she calls “red flags”. In the late 90s, hemangiomas were though to clear up through time. Hers had not.

For Lynn, issues began when she became pregnant in her 20s. During pregnancy, she began noticing leg weakness; serious pain.  While taking a step out of bed during her first pregnancy, Lynn says “It felt like my leg was not there. I leaned to one side and went down, falling on my stomach.” The red marks on her legs also had blebs – sometimes opening up and bleeding. Lynn was bedridden during her two pregnancies and is still not certain how her pregnancy experiences were linked with CMTC.

A few years later, Lynn began having spasms and weakness while standing. At the time, she had blebs clustered under her buttock that looked like a large scab – something like shingles. While laying down one day, she suddenly felt like someone had snapped a rubber band on one of the areas. She moved her hand down, and found it covered in blood.

The incident lead Lynn to a specialist with answers. The dermatologist at the University of Massachusetts, Dr. Lauren Alberta-Wszolek diagnosed her immediately with CMTC, recognizing it immediately upon seeing Lynn. She was given steroid cream for the staff infection in the hole and antibiotics. Finally, she was properly diagnosed with CMTC and scheduled for an EMG at Boston Children’s Hospital, as it was considered a birth defect, for further help.

“I chickened out and never went,” Lynn explains, “a part of me is still scared.” Many patients know the feeling.

Over the years, Lynn has suffered from heart palpitations, migraines, kidney stones, and serious falls. She is also concerned about glaucoma, which runs in her family. Before a fall, Lynn describes a tingling sensation in her leg, “like when you go from extreme cold to warm.” Right before it stops working, sensation is not there. She uses a cane for balance and to walk long distances.

Being a rare diagnosis, Lynn explains that CMTC sometimes peaks the curiosity of doctors. She has personally found herself a guinea pig for study purposes at a teaching hospital. It is true that examples are needed to learn by, but what is not often talked about is the emotional and physical toll it can take on the patient.

Above all, Lynn urges others to research every bit of information they can find, and to advocate for themselves or for their child. She also advises actively seeking firm answers at birth and seeking second opinions from specialists, rather than relying solely on diagnoses from primary care providers.

Recently at a doctor’s visit, Lynn saw a baby with similar markings to hers on her leg. The baby’s mother was grateful that Lynn told her to ask her doctor specifically about CMTC, as she was told that the markings on her infant were just birth related. As someone who lived half of her life with a misdiagnosis, Lynn is now committed to sharing her story to ensure that others get the answers they need early on.

“I hope someday they can find treatment that truly works for the long term.” Lynn explains. “The emotional toll is great. It will be a long road for your child, but research is key.”

We thank Lynn sincerely for sharing her personal story. For questions regarding CMTC, contact VBF’s new CMTC Expert Dr. Marilyn Liang, MD of Boston’s Children’s Hospital.