Our son was diagnosed with having leaky capillaries with no known cause. We are looking for any input as to what direction we should go in next since the doctors who have been treating him feel they are against a wall. He was born with down syndrome and 2 heart defects on July 6, 2012. He had open heart surgery at 6 days old. The repairs were successful, except for minor mitral valve regurgitation. During the bypass he suffered a bleed in his ventricles which ultimately caused hydrocephalus. He has been through the fluid cycle at least 6 or 7 times now. Any information you have would be extremely helpful and appreciated.

I am so sorry to hear of your son's medical issues, especially as he is so very young. Although you say your son has leaky capillaries, you don't mention if he has had a firm diagnosis of systemic capillary leak syndrome. There are actually tons of different things that will cause the capillaries to leak, including underlying medical conditions, serious viral infections, or medications/treatments). A diagnosis of systemic capillary leak syndrome is made only after everything else has been ruled out, which can be a complicated and time-consuming process for doctors. So essentially, not all people with leaky capillaries have this specific syndrome. If your doctors haven't done so already, I hope they can assemble for you a team that can narrow down the specific causes of your son's leaky capillaries. Often doctors in Internal medical, hematology and immunology are needed. I wish you the best of luck, and I sincerely wish things improve for your son soon.

Unfortunately everything else has been ruled out (we are told) and the conclusion is capillary leak syndrome. The doctors have redirected care for comfort rather than a cure, though my husband and I are still searching for an answer and cannot give up hope. Again, any input on who may be beneficial to contact in regards to causes of or treating SCLS, especially in infants, would be extremely appreciated. Thank you.

I'm sorry that I'm unable to help with specific doctor recommendations (I'm in Canada). Many of us rely on a team of doctors to manage care including, 1. A doctor in internal medicine as your primary care physician (preferably one with links to a medical University), 2. A hematologist and 3. An immunologist. With your son only being 3 months old, it would be important to find someone in pediatrics as well. If you have a local children's hospital, try looking for a pediatric immunologist or hematologist. There is no known cure for SCLS, but some SCLS sufferers manage their condition with Theophylline and Terbutaline therapy. For my husband, those medications did not work at all. He now gets monthly IVIg transfusions, which have significantly reduced the amount of SCLS attacks he has. But, he still has episodes now and again that require hospitalization. I don't know if any of these therapies can be used in someone only three months old, so you should definitely discuss it with someone in pediatrics. A pediatrics immunologist would have experience with IVIg and children, and would thus be a far better choice than a regular immunologist. You should know that IVIg transfusions are very expensive and are used "off-label" to treat this syndrome. It often means a battle with the insurance companies to get it covered (if that's an issue where you are). You should also know that there can be some pretty severe reactions to IVIg therapy, so it's definitely not a treatment path to be taken lightly. More about this disorder and possible treatments can be found by clicking "Disorder Resources" in the menu at the top left of this page. Much of the info is based on the experiences of adults with this syndrome, as it's thought to be extremely rare in children. The yellow links on the left-side of the table will bring up documents that you can read. Also, don't be shy about printing that info and bringing it in to your doctors. You may find some doctors get offended, but most welcome any info they can get as it's such a rare condition. (The ones that get offended aren't doing you any favours). I wish you the best of luck, and hope your little one's condition improves soon.