Chloe’s story (USA)
A personal story
Chloe was born in June of 2012.
The next day, we noticed that her right arm was purple, but we dismissed it thinking that her hospital bracelet was on too tight, or possibly even that she was just very cold. The purple marbling persisted through our entire hospital stay (5 days because I had a C-section) and was still present even after we had gotten home. I kept a close eye on it, but with everything else that comes with a brand new baby, I somewhat just pushed it to the back of my mind and hoped it would go away. Her arm would get darker when she was cold or when she was sick or even mad (we joked that it was her mood arm). One evening after her bath when Chloe was about 6 months old, I was playing with her and I noticed that it looked like her right hand was a little swollen. I compared it to her left hand and saw there was a distinct difference in size. This was when I panicked.
We took her to her paediatrician the next week to have her seen. The paediatrician was just as puzzled as we were about the purple marbling and size difference – he suggested it could be a hemangioma or a port-wine stain. But, just to be sure, he referred us to the OU Medical Vascular Center. Again, the doctors were just as puzzled as our paediatrician was. They did x- rays and an ultrasound on her arm and hand, and then they brought in a team of doctors and medical students to take pictures. They had never seen a presentation quite like hers, and we were left with very little answers. I was very frustrated and worried about what could be going on with my daughter’s arm. I came home and immediately started doing my own research on what could be causing the coloration and size difference. After many, many days of researching, I came across an article about a vascular condition called CMTC. Everything sounded familiar – the marbled purple appearance of her skin, the girth difference in her arms and the fact that her arm would change colours based on her temperature or if she was not feeling well. I was immediately relieved because I finally felt like I could possibly have a name for her condition. After I found out this information, I was able to call our paediatrician and get a referral to a doctor at Dallas Children’s Hospital to get a CMTC confirmation and to make sure that she did not have any other underlying issues that go along with that diagnosis. She ended up getting a full-body MRI and more x rays, and the doctor was able to confirm that she did, in fact, have CMTC. He was also able to tell us that the MRI showed no additional problems and for us to just keep an eye on the size discrepancy in her hands. After having a firm diagnosis, I found that there was a CMTC support group on Facebook. I cannot tell you how relieved I was to see that there were other people going through what I was and to see pictures of other children with markings similar to Chloe’s. It literally took the weight of the world off my shoulders.
After joining the CMTC-OVM Facebook page and making contacts with some of the other members of the page, we decided we would go to the Dutch CMTC-OVM conference in St. Louis, Missouri. Chloe was 1 year old by this time, and we took her and had her seen by Dutch Prof. Dr. Maurice van Steensel. It was at this time that he told us that he felt she was closer to a diagnosis of Klippel Trenaunay Syndrome because of the size of her affected arm and hand (being larger than the other), but that her markings appeared to be in line with CMTC. He officially diagnosed her as having KT with other vascular malformations. We learned so much at the conference and were able to meet other parents and children with CMTC and other vascular anomalies, and our hearts were uplifted with the support and diagnosis we received.
Chloe is 6 years old now and is perfectly happy and healthy. She plays soccer and has taken dance classes for 5 years, is one of the top readers in her class, and loves to play outside and work in the garden with us. Her markings are still there, and they do still get darker when she is cold or sick (and even when her mood changes), and her hand is still larger than the other is. She does have some pain, especially when writing or coloring for long periods of time, but it is never anything that is too extreme or bothers her too much. She does tend to bruise and sunburn easier on her affected arm, and we do not allow any blood pressure cuffs or pokes or sticks from shots in her right arm just in case of clotting issues. I really cannot put into words what it has meant for us to be a member of the Dutch global CMTC-OVM family. To be so scared because you do not know what is wrong with your child, but then be able to find a family that understands and is able to calm your fears has been truly spectacular.
I am so thankful to the Dutch CMTC-OVM organization for all the information, answers to questions, help and support that they have given us over the past 5 years. It has truly been a blessing to be a part of such a wonderful group!