I talked to Dr. Sidransky at the NIH, and she sounds like a very impressive and passionate doctor. She has been studying GD2 and GD3 for many, many years. They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg. Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus. They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.
The problem is, we would have to be there for 3 days. Granted, the trip would be fully paid for, but that is three days that Ethan and Abby would be without us, most likely in May or June. All of the testing she recommended can be done here at Texas Children’s Hospital, and we could send the results to them with the exception of the biopsy, which is a maybe (depending on how TCH acquires their biopsies or something). But she admitted they really want to see her in person, do our DNA, etc., for research purposes.
I keep thinking, maybe she holds the key to this disease somehow? But then I keep thinking “why would she be so special as to hold the key?” And then I go back to Abby and Ethan. They wouldn’t pay for them to go with us to DC. Do we want to leave them alone for that long with neighbors?
We aren’t in a rush, but she asked to let her know early next week what we want to do… What would you do in this situation?
NIH has an amazing role in the history of Gaucher’s Disease, as I am sure you know. Plus I have heard from my GD doctor that sometimes having a specialist to conduct the tests is preferable to having them conducted by someone who isn’t familiar with the disease and then must interpret and/or send results off to a remote location. (I know for me this is true of MRIs, I have them done at Children’s Hospital in DC because they have a technologist familiar with the disease who knows just how to position me to obtain the most accurate readings for GD. The guy recognizes me even though I only go every two years.)
It’s a tough decision, for sure, especially when you would have to leave the older kids behind. But I would say go for it.
Nancy’s last blog post..Shred report: Day 10
I’d say go for it and try to scrape enough together to take the other two with you. Even if it is a trip for Hannah, taking all three to Washington DC could be a great experience.
melissa’s last blog post..Footprints
absolutely go for it! you never know who is going to hold the key so take every opportunity you can. if you can bring Abby and Ethan for a trip to DC, even better – unless you know there will be no time for fun and then it will just be boring for them so try and leave them at home. HOpefully you have someone you trust that they can stay with. If you do want to take them, maybe people can rally to donate FF miles or something to get them free flights?
Are there any grandparents the other kids could stay with? Or maybe an aunt or someone? I really think you need to do this. 3 days is not THAT long to be away from the other kids and I think you will always wonder ‘what if’ if you dont go.
The NIH wanted to see Aaliyah as well, we did not go due to the fact that it would be endangering Aaliyah’s welbeing more than benefiting her we would have went. I know it was difficult to think of leaving our oldest son behind too, especially during such a big event but we were going to in hopes of helping our baby girl. Of course the NIH said there were no guarantee’s but at least a huge team of specialist in her particular disease would be seeing her vs. a team of local dr’s (who learned ALOT during our baby’s short 3 years here) who started out not knowing anything about GD2. I know the NIH said that one parent HAD to stay inpatient with Aaliyah while the other would stay hopefully in a room out of the hospital but still onsite. I would encourage you to go Carrie before (hopefully she never will need all the equipment other GD2 babies need) she ends up on oxygen if she does and other equipment. The oxygen was the main issue that held us up because of the airlines, we absolutely would NOT let Aaliyah go at all without 02 because of her possible problems that could have happened onboard, just wasn’t worth the risk to us, we cried though. Hannah isn’t on 02 though, so it’s not an issue for you : )
Good Luck,
Liz
Have you asked Abby and Ethan what they want to do? Which study would Dr. Sidransky seeing Hannah through? There are some studies focused purely on observation while others are geared toward treatment. While we all want to help kids with LSD, Hannah needs to be in one for treatment.
Cristina’s last blog post..RE: Genetic modification of umbilical stem cells for treatment of lysosomal storage disease?
GO! Your other kids will be fine. Leave a new game, toy or treat for them to open every day. 3 days will fly by! GOOD LUCK!
I totally understand not wanting to leave the kids for three days. I think that if she/they see her that coule make them more interested in her case. Just the more people involved has to be good.
Go. I wouldn’t want you to ever regret not going. Can we help with a fund-raiser to help you put together funds for the bigger kids’ airfare/meals for the trip? Or to pay the way for a grandparent to come and stay with them for three days? I don’t think being “left behind” for three days is going to be much more than an adventure for them. I can absolutely see how having your entire family with you would be important too.
Another thought? You and Hannah could travel alone and Robert could hold down the fort with the older kids (not that I’d want all of “that” on my shoulders alone.
Could maybe a family member come stay with the older 2? Make it a fun thing for them to spend time with grandparents or aunts and uncles? I think that going is very important for you so that you can say that you did everything you possibly could to help find a cure and to get treatment!
Stephanie’s last blog post..I Can’t Believe ER Is Over!
My parents left my brother and I with friends for a week trip (for pleasure) for the 2 of them when we were about Ethan and Abby’s ages. My brother and I thought it was a blast. We spent 2 days with one family, then the rest of the time with another family. (The one family went to public school, and we went to private, so we stayed with another family that also had kids in the same private school during the school week). My parents were both vaguely upset with it because when they dropped us off, we just ran off to play; and when they came to retrieve us my brother said “You are back so soon? How about coming back later? We are playing.” They were hoping for hugs good bye and a happy welcome home. (I know all kids are different, but I know were were fine with friends. We probably would have had a harder time with relatives as we spent a lot of time with the families we stayed with, and only saw our relatives a few times a year.)
I like Melissa’s suggestion. Try to make a trip out of it with E and A. Everything is a struggle these days, but it’s an opportunity to do something as a family. Let your family know if you need some help in the Northeast. If the family trip doesn’t work out, even if it’s just the three of you, this still could be a fantastic opportunity.