This is my first time posting. So far, my son has been diagnosed with a large AVM in his left calf with bony involvement. The bone is eroding due to the increased blood flow. The vascular lesions team at Chicago Children's hospital is thinking embolization, but they want to wait until he is at least 6 months old. We also do not know if the bone will grow since the growth plate may be impacted by the AVM. If the bone cannot grow, amputation is an option. The team is really just waiting and ensuring that Rob stays stable. He is on lasix due to the increased work on his heart. Luckily, his condition is not causing him any pain currently, and the only sign of it is one calf is much larger than the other with a few salmon birthmark stains. As a new mother, this is very difficult. There are more questions than answers, and it seems like I should get a second or even third opinion. I trust the VL team in Chicago, but I would like another set of eyes to review his records. Any recommendations for Pediatric AVMs? And of course the doctors tell me that they have never seen a case like his...I think it is because it was noticeable at birth.
I just talked to his case worker at Chicago, and they are conferring with Boston Children's hospital. So that is something. But it doesn't make me feel good that his AVM fascinates specialists that see these lesions. good grief.
Rob's mom, it sounds like your son could have Parkes-Weber Syndrome or Klippel-Trenaunay Syndrome. If your son's malformation is unusual and fascinating to the docs in Chicago, I would recommend trying another hospital. Robert Rosen in NY is the arm and leg avm expert at birthmark.org, and you can write to him by email through that website and send digital photos. I would also recommend Cincinnati Children's (Denise Adams), Wisconsin Children's (Patricia Burrows), or Boston Children's. If it is PWS or KTS, sometimes normal veins or arteries can be absent in some places, and embolization or sclerotherapy may not always be indicated, so it is important to find someone who is familiar with those conditions. If you go to the Facebook group "Klippel Trenaunay Weber Syndrome," you will see photos of other babies who look like your son, and you can talk with those parents. Best wishes, and please keep us posted as you gather opinions.
One question: was the CM/AVM diagnosed just by examining your son, or by genetic testing? If your son has a RASA1 Mutation, Parkes-Weber as well as CM/AVM may be caused by a mutation in RASA1.
We are getting the testing done now. The diagnosis was just based on MRI/visual examination.
Boston is going to review his records (chicago sent them over this week).
I’ll check out the other places you mentioned.
Thank you!
Here is my little dude at birth 171-image.jpg (995 KB)
Hi my name is Amy and my 3 yr old was diagnosed with cm-avm, a vascular genetic condition that causes multiple avm’s! We are currently at chop in Philly but are waiting for second opinions from boston and arkansas! I know how stressful this must be! So glad you found this site. They have helped me more than any dr. So far! Rocco’s condition is extremely rare but I am doing research to find the best treatments! Good luck and ask plenty of questions!
Hi Amy!
Please keep me posted with what the docs advise for treatment.
Rob hasn’t had a full scan to rule out other avms, and we are waiting for the genetic test before additional MRIs are ordered.
Since you are around philly, have you thought about Columbia chop?
I noticed they have a vascular team, and I was considering getting a third consult with them.
Another random question- do you have any other children? Rob is my first and I thought I would try to have one or two more BUT if this is genetic and easily passed on- well, that may change everything. I’m eagerly awaiting the genetic results and wondering what that means for Rob and our family.
Rob's mom, confirm this with your doctors, but RASA1 mutations are autosomal dominant, so I believe you or your husband would need to be affected with CM/AVM or Parkes Weber to be able to pass it on to your children. Rob probably has what is called a de novo or spontaneous mutation, that was not inherited from either one of you. Now, if one of you has capillary malformations and an avm, then that is a different story...
I live just outside Chicago and my daughter was diagnosed with an AVM in her mandible. We could not find doctors in Chicago with experience treating an AVM like hers. I would recommmend that you contact doctors with experience treating that type of AVM. This will require travel. Our daughter is treated by Dr. Berenstein in NYC. If traveling far will be difficult for you, I think that Patricia Burrows in Milwaukee is a good option.
Did you happen to see Dr.Donaldson? He mentioned that he saw a girl in December with an avm in her hand after I asked him how rare this was…he did say he never saw anything like Rob’s avm though. However, All AVMs seem very unique.
I should hear from Boston within a week, and Dr. Rosen is going to review Rob’s MRI and X-rays. He seems to have the most experience that I’ve been able to research. Thanks to dancermom’s suggestion with the kt/pws group- I found a women in Chicago who has a son with KT and we are going to meet up for support once it finally warms up out there.
I’ll keep you posted with any recommendations from Rosen.
