We are off to the DR on Wednesday! WAHOOOOOOOO!
It's been a long-time comin' and it's finally here. I'm in a bit of a scramble to repack our bags (we got back yesterday from my sister's house in Scottsdale where we went for Thanksgiving). Currently I'm procrastinating and writing this post instead of folding newly washed clothes.
Actually, I just finished confirming all of our reservations. When I called the hotel at the DR, the man at the reservation desk asked if it was my first time at their hotel--which it is. We decided to switch after having a mediocre hotel experience on our last trip. When I told him it was my first time he said, in his great Spanish accent, "Come for the fun! Come for the paradise!" I was so thrown by this I had to confirm this is actually what he said. It was. I didn't have the heart to tell him that I was coming for the stem cell injections since he was so excited about the fun and the paradise.
But we hope to get a day of that in as well. One of the nice things about this hotel is that it's actually ON the beach. The last place we stayed, we had to load the kids into a golf cart and drive to the beach. This is a bit of a challenge with Soren and his big old stroller. The new hotel is also more wheelchair accessible, according to all my DR-traveling friends in the know. That will be quite a nice change from all the stairs we had to maneuver on our last trip.
We'll be flying out of LAX Wednesday into Miami. We'll spend the night at an airport hotel. Then Thursday we'll continue on to La Romana in the DR. It's really the best and most human way to do it with two kids.
Friday Soren gets his injection. Saturday we get to enjoy "the fun and the paradise." A nice thing is that the DR's air temperature and water temperature are both VERY warm. Soren LOVES that. And their beach is protected by a reef, so the waters are super mellow. At least Soren will get a little treat after getting juiced up.
Then we get back on the plane Sunday to go to Miami. And Monday we'll return to L.A. Rather whirlwind. But totally worth it! We're really excited about what this treatment could bring. I'll take pictures and write an update when we get back. Wish us luck!
Amy
Monday, November 27, 2006
Monday, November 20, 2006
Giving Thanks
As Thanksgiving is fast approaching, I want to thank you all for your support during our challenges with Soren.
So many people have helped in so many ways--giving a theater space, doing a performance, coming to a performance, giving socks, throwing socks, selling socks, listening to our troubles, reading about our troubles, donating to our cause, running for our cause, sending an email of love, donating cookies, giving of your time, offering a much needed vacation, donating programs, donating flyers, donating art, selling art, calling to say hello.
Thank you all for giving of yourselves in ways I could never imagine. For not judging that which cannot be judged. And for caring.
Thank you for helping our boy. Thanks for giving. Thank you.
Amy
So many people have helped in so many ways--giving a theater space, doing a performance, coming to a performance, giving socks, throwing socks, selling socks, listening to our troubles, reading about our troubles, donating to our cause, running for our cause, sending an email of love, donating cookies, giving of your time, offering a much needed vacation, donating programs, donating flyers, donating art, selling art, calling to say hello.
Thank you all for giving of yourselves in ways I could never imagine. For not judging that which cannot be judged. And for caring.
Thank you for helping our boy. Thanks for giving. Thank you.
Amy
Wednesday, November 15, 2006
Calabasas Classic 5K/10K Run
Last Saturday I ran my first 5K! Amazing, shocking, but true!
I ran it in support of The Talbert Family Foundation, which has given so much to Soren. Because of them, Soren can get tax-deductible donations. They also gave us a $5,000 honorarium when he became a TFF kid. And when we raised our first $5,000, they matched it.
So I trained (if you know me, you know this is quite a feat) and ran for the foundation and for Soren.
And I'm lucky enough to have some athletic friends who came to support Soren as well! My friend Keith actually ran the 5K with me, which was fantastic. It was a good, tough course and it was great to have a friend beside me.
Then my longtime college friend Neil ran the 10K (and did quite well, I might add). Aaron's former coworker Mona and her friend also ran the 10K. Amazing!
Then I was also lucky enough to see my friend Cindy who was voluteering her time to the Foundation. AND I FINALLY got to meet the lovely Julie Talbert of The Talbert Family Foundation. It was a great day. The event (which was held with much support in Calabasas) was fantastic with an amazing turn out!
Very cool. And now that I know I can do it, I plan to do it again next year!
Amy
I ran it in support of The Talbert Family Foundation, which has given so much to Soren. Because of them, Soren can get tax-deductible donations. They also gave us a $5,000 honorarium when he became a TFF kid. And when we raised our first $5,000, they matched it.
So I trained (if you know me, you know this is quite a feat) and ran for the foundation and for Soren.
And I'm lucky enough to have some athletic friends who came to support Soren as well! My friend Keith actually ran the 5K with me, which was fantastic. It was a good, tough course and it was great to have a friend beside me.
Then my longtime college friend Neil ran the 10K (and did quite well, I might add). Aaron's former coworker Mona and her friend also ran the 10K. Amazing!
Then I was also lucky enough to see my friend Cindy who was voluteering her time to the Foundation. AND I FINALLY got to meet the lovely Julie Talbert of The Talbert Family Foundation. It was a great day. The event (which was held with much support in Calabasas) was fantastic with an amazing turn out!
Very cool. And now that I know I can do it, I plan to do it again next year!
Amy
Thursday, November 09, 2006
Genetics
It's been a tough week. If you don't want to know why, I'd skip reading this entry.
Back when all this started, we went to see a geneticist at Cedars to see if there was a genetic cause for Soren's Infantile Spasms. While this wouldn't offer us any kind of cure, we hoped it would give us the "why" answer that everyone had been looking for. Plus, if we could then check if Moira was a carrier of any genetic mutations, we could hopefully prevent her from dealing with this problem when she had children.
We did a special test to check if Soren had a mutation of his ARX gene. They had recently found this gene and mutations of it could cause Infantile Spasms. His test came back negative from this. After this, we dropped the genetic ball for a bit. It wasn't going to change our course as far as how we were treating Soren. We knew our goal was to stop the seizures and to work on furthering his development. That wasn't going to change.
But then my cousin's daughter started having Infantile Spasms as well. She had started having seizures right after birth. But then the IS developed as she got older. So I thought exploring the genetics would be worthwhile again.
Soren and I went back on Tuesday. And I've kinda been a wreck ever since. As soon as they saw him, they noticed that he was wringing his hands--something he does ALL the time. Then he starting "clapping" his hands (not with sound, just bringing them together). Both of these are indicators of a NEW gene mutation that has been recently found. It's interesting, we were always SO happy that Soren brought his hands together. Bringing your hands to midline is very important in development. And we've always thought his hand clapping was him signing "more" (which I still think he is at times). But now we've come to realize that these may just be part of his disorder. Lovely.
The gene in question is called CDKL5. It's an X-linked gene and a mutation of it can cause Infantile Spasms/West Syndrome. The geneticists also noted that Soren's head is not growing as much as it should. This is called microcephely. This indicates that his brain is not growing as it should either. If you want to get really depressed like I've been all week, google CDKL5 and microcephely. But I wouldn't recommend it.
The doctors were quite excited to see all these indicators. It gave them hope for an answer. Of course, my heart sank. They took pictures of Soren's head, his crazy cowlicks on the back of it, got photos of him wringing his hands, clapping his hands, and of the inside of his mouth (Soren has an underbite). Now we have to work on getting the actual blood test. That takes a little bit of negotiating with insurance companies.
If Soren tests positive for this mutation, I will then get tested. Since it is an X-linked gene, he could have gotten it from me. It could also be a new mutation, meaning that Soren was the first in our family to have it. But if I also have the mutation, we would then test Moira. If she had it, it could affect her choice in having children. Also, if I had it, my sister would probably test for it since she has two daughters as well.
Of course, his test could come back negative. But that just means that we have to wait around for the next mutated gene connected to Infantile Spasms is found so we can test for that. It could go on forver.
But, most importantly, what does this mean for Soren? If he does have this mutation, there is no cure. There is nothing to help the microcephely. So we would go about our lives as we have, doing the best we can for him. Anti-seizure meds, therapies, school.
And then there's our great hope for the stem cell injections. Everyone on the team was very interested in the fact that we were getting them done. They were interested in the changes we'd seen so far and eager to see what changes Soren might have with these next rounds. There are other children with this disorder, and if stem cells could give their parents hope for their children, the doctors would like to pass that information along.
Three weeks from today we will be back in the DR. Three weeks from tomorrow we will get Soren's 3rd injection. And then we wait.
And hope.
Amy
Back when all this started, we went to see a geneticist at Cedars to see if there was a genetic cause for Soren's Infantile Spasms. While this wouldn't offer us any kind of cure, we hoped it would give us the "why" answer that everyone had been looking for. Plus, if we could then check if Moira was a carrier of any genetic mutations, we could hopefully prevent her from dealing with this problem when she had children.
We did a special test to check if Soren had a mutation of his ARX gene. They had recently found this gene and mutations of it could cause Infantile Spasms. His test came back negative from this. After this, we dropped the genetic ball for a bit. It wasn't going to change our course as far as how we were treating Soren. We knew our goal was to stop the seizures and to work on furthering his development. That wasn't going to change.
But then my cousin's daughter started having Infantile Spasms as well. She had started having seizures right after birth. But then the IS developed as she got older. So I thought exploring the genetics would be worthwhile again.
Soren and I went back on Tuesday. And I've kinda been a wreck ever since. As soon as they saw him, they noticed that he was wringing his hands--something he does ALL the time. Then he starting "clapping" his hands (not with sound, just bringing them together). Both of these are indicators of a NEW gene mutation that has been recently found. It's interesting, we were always SO happy that Soren brought his hands together. Bringing your hands to midline is very important in development. And we've always thought his hand clapping was him signing "more" (which I still think he is at times). But now we've come to realize that these may just be part of his disorder. Lovely.
The gene in question is called CDKL5. It's an X-linked gene and a mutation of it can cause Infantile Spasms/West Syndrome. The geneticists also noted that Soren's head is not growing as much as it should. This is called microcephely. This indicates that his brain is not growing as it should either. If you want to get really depressed like I've been all week, google CDKL5 and microcephely. But I wouldn't recommend it.
The doctors were quite excited to see all these indicators. It gave them hope for an answer. Of course, my heart sank. They took pictures of Soren's head, his crazy cowlicks on the back of it, got photos of him wringing his hands, clapping his hands, and of the inside of his mouth (Soren has an underbite). Now we have to work on getting the actual blood test. That takes a little bit of negotiating with insurance companies.
If Soren tests positive for this mutation, I will then get tested. Since it is an X-linked gene, he could have gotten it from me. It could also be a new mutation, meaning that Soren was the first in our family to have it. But if I also have the mutation, we would then test Moira. If she had it, it could affect her choice in having children. Also, if I had it, my sister would probably test for it since she has two daughters as well.
Of course, his test could come back negative. But that just means that we have to wait around for the next mutated gene connected to Infantile Spasms is found so we can test for that. It could go on forver.
But, most importantly, what does this mean for Soren? If he does have this mutation, there is no cure. There is nothing to help the microcephely. So we would go about our lives as we have, doing the best we can for him. Anti-seizure meds, therapies, school.
And then there's our great hope for the stem cell injections. Everyone on the team was very interested in the fact that we were getting them done. They were interested in the changes we'd seen so far and eager to see what changes Soren might have with these next rounds. There are other children with this disorder, and if stem cells could give their parents hope for their children, the doctors would like to pass that information along.
Three weeks from today we will be back in the DR. Three weeks from tomorrow we will get Soren's 3rd injection. And then we wait.
And hope.
Amy
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