Hi everyone! i am new to this forum - although have posted on other vascular malformation websites. Just looking for anyone else going through anything similar.
To begin my daughter has a portwine stain that goes from her left knee up to her lower back. And her left leg was appearing a few cm's shorter.
My daughter is 8 months old - she was first diagnosed with Failure to Thrive, and due to her constant throwing up she was sent for an Upper GI. It was during that test that the technician caught her "sever hip damage". She was diagnosed with reflux during that visit as well. When we went to see her paedeatrition after this finding - he told us we would be sent to an orthopedic surgeon, but first wanted further xrays done of her joints. We got a call after those xrays were taken and we were told no other joints were affected and that she has a possible bone infection as her left hip is "severely damaged" BUT the local orthopedic surgeon could not get her in for 2 months. Well that was not an appropriate time frame for us - so between the hip damage and short leg we decided to take her to Sickkids hospital in Toronto.
Needless to say they admitted her right away through ER based on her xrays - she was an inpatient for 1 week where they did xray's and ultrasound's and mri's. They finally came back with "your daughter has a very large and rare AVM on her left thigh that is threatening her left femur". With that diagnosis they sent us home. We were then "referred" to there vascular anomolies clinic where they went over more of the AVM diagnosis - and in the meantime we were referred to their orthopedic team, and cardiology - as these growths have a cardiac component.
We've seen Ortho - and they have showen us her XRAY, and her femur is literally broken in two. and there is a 2cm gap between the two pieces. And the surgeon told us that the growth is actually in between bone - but won't advise (likely because he isn't sure himself) if the growth started IN the bone, or ate through the bone or why the bone is broken. Just that if the vascular team can shrink the growth enough to get it out of the way of the bone, the femur likely will be able to heal on its own.
Our Vascular Anomolies Clinic doctors though, aren't comfortable doing any treatment yet on her because she is so young - and they are wanting to consult with other doctors. They are also concerned there is more going on with her (possible heart failure? seizures? stokes? all things mentioned in our appointment). Although my question to everyone is....aside from your AVM what other symptoms do you have?
We have been told she COULD have Parkes Weber Syndrom....but her affected limb isn't bigger its smaller - and broken in 2 because of this growth. She is only in the 6th percentile for growth, she isn't hitting her milestones (not sitting up) and her head circumfrence we are told its growing at a faster rate than her body - although you can't visually tell that by looking at her. What could all those symptoms together mean??
We are currently awaiting her ECHO with cardiology, we are being sent for genetic testing, to the Failure to Thrive Clinic, and they have scheduled her a brain MRI.....all of course leaves us very overwhelmed.
Sorry this is so long - we are just worried parents looking for as many answers as possible
Thanks so much.