Yesterday, the geneticist's office called and said they had a cancellation for next week. So instead of waiting until August to go, we plan to take them up on the offer and try to get there next week. Maybe this will start the ball rolling a little sooner on figuring out all of that medical mumbo jumbo I posted about a few weeks ago. We shall see!
Also, I have been doing a lot of searching (as I did with Claire's heart defect) about pediatric liver information and support groups. They are definitely few and far between. Even more so than the pediatric heart blogs and support groups. But I have found a few really good websites in the past few weeks that work to connect families together that are dealing with similar pediatric liver disease situations. I highly recommend the following website for anyone dealing with a pediatric liver disease:
Pediatric Liver Aid Foundation (or PLaiD) - http://pediatricliveraid.org/
This website has been the best so far as far as connecting with people. The two moms who started it responded back to my contact request almost immediately. Plus can you hardly stand yourself looking at those adorable faces on the homepage?!?! :) I sent in Claire's story and they are working to get it posted to their site and to their Facebook page. This is an AWESOME service to families like ours. When you feel like you are the only ones dealing with something, you realize you are not alone. And that is very comforting.
One of the founders of PLaiD has a daughter, Abby, with a rare liver disease. Abby just had a liver transplant in December. Abby's mom contacted their pediatric hepatologist and asked him if he knew of anyone dealing with HMH, Claire's liver disease. She said he told her they didn't have any patients with Claire's disease and he wasn't sure if he would find anyone who did to since HMH was so rare. She said he "kind of chuckled" because if I had come to him asking him to connect us with someone with such a rare disease, he would have connected me with Abby's mom! Abby is only the 32nd person identified with her disease. I think there have only been about 120 cases reported of Claire's disease ever. So that gives you an idea of just how rare these things are. Abby's pediatric hepatologist also said "The good think for her child (for Claire) is that this condition (HMH) is thought to be curable with the appropriate surgery (not transplant) and should hold little to no increased lifetime risks. We don't have a lot of data to to go on, but I would pick this liver disease over quite a few others." That is somewhat reassuring, I guess! Claire has not seen a pediatric hepatologist yet. I haven't actually looked for one in our area. We have just been working with the liver surgeon at Duke so closely, I sometimes feel like she is our hepatologist.
Contacting this site led me to this next site, Madisons Foundation. It's named after the founders' child Madison, but Madisons also stands for Moms And Dads In Search Of Needed Support. This site is for families searching for information or wishing to be put in contact with someone dealing with a rare pediatric disease. It's focus is on really rare diseases, like hepatic mesenchymal hamartomas. In fact, HMH is not even listed on their site but tetralogy of fallot is. So I have put in a request for them to add HMH to their site. It's so rare, it's not even on the "rare diseases" website! So if your child has a rare disease, check out this site:
Madisons Foundation - http://www.madisonsfoundation.org/
A few other pediatric liver disease related websites that I have found are:
C.L.A.S.S. - Children's Liver Association for Support Services - http://www.classkids.org/
Liver Families - http://www.liverfamilies.org/homepage.htm
American Liver Foundation - http://www.liverfoundation.org/
I hope this helps anyone in search of good pediatric liver disease (and rare disease) websites, information, or connections. It's nice to have them all listed in one place.
As of last night, Claire weighed 13 lbs 3.5 oz. She has been grunting a lot which usually tells us she is uncomfortable. Her belly looked bigger/fuller to me this morning and her belly button was "flatter" than normal. I am still waiting on a phone call from the liver surgeon this week to hopefully give us a date and a plan for Claire's liver surgery. Please pray we hear back from them soon and get the ball rolling.
The Scott Family