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Sam's Story

Our third son Samuel was born in April 2009, right around 40 weeks. When he was born, the cord was wrapped pretty tightly around his neck. The nurses spent a good 5 minutes (or so it seemed) getting him to breathe on his own. I noticed that his legs and abdomen were a dark purple color, and that one of his arms was much larger than the other, but with everything going on I think in the back of my mind I chalked it up to a lack of oxygen. They eventually got him breathing, and his vitals were all stable. When they were getting his footprints, one of the nurses asked my wife and me, jokingly, who had the longer second toe. We then noticed that the second toe on Sammy’s left foot was longer and fatter than the rest of his toes. After a while, when the purple color hadn’t faded, we began to worry that something was wrong. The doctors and nurses had never seen anything like him, and at 4 hours old he was airlifted to Cardinal Glennon Children’s Hospital in St. Louis. I was handed some photocopied pages from a medical journal about Klippel-Trenaunay Weber (KTW) syndrome and was told that was their best guess. Nobody in that hospital had ever seen anything like him either. In fact, the nurse on call when Sammy was admitted had worked at that hospital for over 30 years and had never seen a baby like Samuel. Talk about a real confidence booster. Because he was admitted on a Friday, there weren’t any specialists on call. We spent the whole weekend scared, not knowing what was really wrong with our son or what the future would hold for him. The stuff that makes the medical journals isn’t exactly mild, so we were assuming the worst.

Eventually we spoke to a geneticist and a dermatologist, and his diagnosis was changed to Cutis Marmorata Telangiectatica Congenita (CMTC). While much rarer than KTW, CMTC is a much less severe disease and we were greatly relieved. He had a skeletal series, an MRI, and several other tests that all came back negative and got to come home after a week in the hospital.

Until he was about 8 months old we operated under the assumption that CMTC was the disease he had, but our dermatologist still wasn’t convinced. CMTC explained some of his symptoms, but not all of them. In addition to the discoloration and enlarged limbs, he has fatty lumps on his trunk, with the left side of his trunk being much larger than the left side. His right buttock is also much larger than the left one. This means his diapers don’t fit properly, and he has frequent blowouts. Not fun. It really affected him when he was learning to sit up, because the larger buttock made him list to one side. He learned to compensate by kicking his leg out to the side and leaning in order to sit up. This caused him to develop mild postural scoliosis. In December we travelled to Indianapolis to see a vascular specialist who did some deep imaging of his veins, and he saw that Sam has adult-sized veins in his enlarged arm and leg. He recommended removing those veins. We were pleased that we finally had a fairly clear path and could move forward with a treatment.

When we got back, we told the dermatologist about the vascular specialist’s recommendation. She cautioned us against vein removal and told us, for the first time, about CLOVES. She had discussed Samuel’s case with several other dermatologists at a conference, and they all agreed that it sounded like CLOVES, which explained the enlarged limbs, trunk, and buttocks.

Compared to other CLOVES patients, Sammy is definitely a "mild" case. He has hit all of his major developmental milestones, and no longer requires physical therapy. He hasn’t had any surgeries or any life-threatening issues. When his clothes are on, he appears like a "normal" toddler. The worst side affect from his symptoms has been his ability to walk. Because one side of his body is larger than the other side and the enlarged, elongated toe, he has a lot of trouble walking. He falls down a lot. As of this writing he just had 4 stitches in his lower lip after falling face first into some wooden furniture. However, if that’s the worst thing we have to deal with I’m incredibly thankful. There are people with this disease who have had to face a lot more adversity than Samuel. If all that is ever different about him is a few enlarged limbs and some purplish skin, so be it.

The hardest part is all of the uncertainty. Because CLOVES is a progressive disease, I keep wondering if things are going to change for the worse. For now I’m thankful and happy that Sam is healthy. Sam has helped me form a whole new concept of what "normal" means.

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