Andrea West met her potential spouse during their final year of college. They were swept away by a passionate romance and subsequently relocated to Andreas’ hometown shortly after completing their studies. Within a brief span of time, they became engaged and soon shared the delightful news with their loved ones that Andrea was expecting their first child. Andrea was elated with joy.
Unfortunately, after merely eleven weeks, the joyous atmosphere was engulfed by sorrow as Andrea experienced a miscarriage. “I was an absolute wreck. I didn’t know what to do, who to talk to, what was appropriate to discuss, or who could help me. Little did I know that 1 in 4 women suffer the same, and people just don’t talk about it. I didn’t know if I could ever deal with being pregnant again.”
With the unwavering support of her caring husband, Andrea’s anxiety gradually subsided over time.
Fortunately, she became pregnant once again. This time, she made a firm commitment to do everything within her control to ensure the healthy growth of her baby. She made sacrifices, giving up various foods like cold-cut meats, sushi, and certain cheeses. Additionally, she immersed herself in pregnancy books, determined that everything would be alright this time.
As the months passed by without any complications, Andrea felt a sense of relief. She began experiencing mild contractions at the expected time and promptly headed to the hospital. On arrival, she and her partner were admitted to a delivery room. Just as they were about to be discharged, an ultrasound revealed a concerning lack of amniotic fluid. The medical team determined that labor needed to be induced immediately.
Read: Infant born with rare skin condition becomes miracle to parents
Then their baby was born
Fortunately, the delivery went smoothly, and before the night came to an end, Andrea and her husband were overjoyed to welcome their precious son, Adam, into the world. However, an unexpected turn of events quickly overshadowed their initial happiness. Instead of being able to cut the umbilical cord as planned, Andrea’s partner witnessed a flurry of medical staff swiftly whisking Adam away from them.
Amidst the chaos, he caught a brief glimpse of their son being attended to by doctors, only to turn back to Andrea with a heart-wrenching statement. “Honey, there’s something wrong with Adam’s leg.” A crowd of twenty medical professionals had gathered around little Adam, leaving Andrea increasingly worried as time passed without any explanation.
Left alone in the ward while her mother and partner went to inform their concerned family members waiting outside, Andrea remained in the dark, unaware of what was happening with her baby. No one had yet revealed the nature of Adam’s condition. It would later be revealed that the right side of Adam’s abdomen and his entire right leg exhibited a disconcerting marbled pattern of purple and black discoloration.
A diagnosis of CMTC was made, but what did that mean for this brand-new family?
After a period of uncertainty, Adam was diagnosed with Cutis Marmorata Telangiectatica Congenita (CMTC), an incredibly rare vascular malformation. Andrea and her husband were at a loss for how to respond. At the time of Adam’s birth, there were only 500 reported cases of this condition in the world.
Adam underwent numerous tests on his vital organs, fortunately passing them all without any complications. Andrea spent countless hours in the Neonatal Intensive Care Unit (NICU), so much so that she went without sleep for four days. Eventually, Adam was deemed fit to go home, armed with a strict care regimen for his unique skin condition.
What is Cutis Marmorata Telangiectatica Congenita (CMTC)?
CMTC is a rare congenital disorder characterized by the presence of discolored patches of skin caused by dilated surface blood vessels. This results in a marbled or fishnet-like appearance of the skin, with purple or blue discoloration. In some cases, individuals with CMTC may also have ulcerations or congenital skin defects known as aplasia cutis.
It is important to note that CMTC can be associated with other conditions, such as Adams-Oliver syndrome. Where additional abnormalities may be present, including nevus flammeus (pink or dark red patches of skin), hemiatrophy (muscle wasting on one side of the body), glaucoma (elevated fluid pressure within the eye), and hypotrophy (undergrowth of one leg). However, it is believed that many of these cases actually represent forms of Klippel-Trenaunay syndrome or related disorders. Like Cowden’s disease.
The most common association seen in true CMTC is with soft tissue hypoplasia, involving subcutaneous fat and muscle. It is worth mentioning that the disorder previously known as macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is now recognized as a distinct genetic disease called macrocephaly-capillary malformation (M-CM/MCAP). The majority of CMTC cases occur randomly without a known cause. And it is believed to be a result of genetic mosaicism.
Read: Baby Mocked for Having White Hair – But Wait till You See How He Looks Years Later
Tough as nails, Adam never gave up
According to Love What Matters, it became increasingly evident that Adam was a remarkable fighter as time went on. Today, he is a joyful and healthy young boy who has developed a love for mathematics and chess. Despite the weakness in his leg caused by his condition, Adam has even been able to participate in sports.
In a heartfelt post shared by Andrea West on Saturday, March 5, 2022: “Throughout it all, despite being aware of his differences from other children, Adam has never viewed his disability as an obstacle.” Andrea West remains actively involved in the CMTC Alliance, a global nonprofit organization that empowers individuals diagnosed with rare vascular malformations.
She wholeheartedly dedicates herself to raising awareness about CMTC and advocating for those affected by it
If you would like to show your support for the organization and make a positive impact on the lives of individuals affected by rare diseases like Adam’s, I encourage you to share his story and consider making a donation. By sharing his journey, you can help raise awareness and foster understanding for those facing uncommon illnesses.
Your generous contribution can truly make a meaningful difference in improving the lives of individuals and their families. Together, we can support organizations like the CMTC Alliance and provide much-needed resources and assistance to those in need.
Keep Reading: The Amazing Story of Tru Beare, Born Weighing Just One Pound
- “‘I’ve never heard of that.’ The attending physician didn’t know what it was. I don’t think I slept for more than an hour that night. ‘Will he be OK?’: Mom births rainbow baby with CMTC, ‘He doesn’t let his difference keep him down’.” Love What Matters. Eliza Murphy. October 01, 2018.
- “Cutis Marmorata Telangiectatica Congenita.” RareDiseases.Org. 1994, 2002, 2005, 2009, 2012, 2015
- “Mom delivers baby, forbidden from holding him when dad utters: “There’s something wrong with Adam’s leg”.” NewsNer. Michael Panter. October 05, 2018