Archive - September, 2009

Half Way There

Carmen update: Carmen seems to be doing better. She still has random low-grade fevers but we can get them down with cool washcloths so I doubt they are related to an infection. Since starting Carafate, we haven’t seen blood in her feeding tube. Carmen is now on a diet! At her 3 year old well visit, she was a whopping 41 lbs. So, she is now getting 400 calories per 24 hours. I hope we can slim her down some as she is c-h-u-b-b-y and getting harder and harder to carry.

I am now 20 weeks along. Half way there! This Thursday, we find out if we are having a boy or a girl. I have been having a lot of contractions this weekend so I am going to call the doctor in the morning. They are most likely just Braxton Hicks but I would like to know for sure.

I asked Dave to take some pictures of me since I am now 20 weeks. Lauren asked to take pictures too and she took this one!

20 Weeks

$3.5 Million

This is somewhat “old” news in the Tay Sachs community but certainly worth sharing! At the end of August, NIH (National Institutes of Health) awarded a $3.5 million grant to the Tay Sachs Gene Therapy Consortium to continue researching a cure for Tay Sachs. Yes, a CURE!

Tay Sachs families and supporters raised $600,000 to assemble this international consortium of experts. The $3.5 million grant money from NIH will help advance an experimental gene therapy for Tay-Sachs and Sandhoff (similar to Tay Sachs) diseases from animal tests to human clinical trials.

From the press release about the $3.5 grant: “The consortium was formed two years ago as scientists refined a way to deliver two human genes – known as HexA and HexB – which are deficient in Tay-Sachs and Sandhoff diseases, respectively. Injection of these genes in the brain has been shown in laboratory mice to spur production of normal enzymes at levels sufficient to correct the enzymatic deficiency throughout the entire brain of these subjects.”

I think this means that in a few years a gene therapy will be ready to try to stop the progression of Tay Sachs in humans. If a young baby is diagnosed, then he or she will have a chance at a normal life.

As parents who have sat through a meeting in which we found out that our daughter has a disease with no cure and no treatment and that she would rapidly lose her vision, ability to swallow and move and awareness and that she would have uncontrollable seizures and probably die within 2-3 years from pneumonia, I cannot imagine how different it will be for parents who are given hope of a cure.

This therapy will be too late for Carmen and I am not even sure it would help her as she has the AB Variant. She has all the HexA she needs but is missing the protein activator to make it work. But, every step forward in Tay Sachs research is a step forward for other diseases that affect the brain.

If you wish to learn more about one group of parents who have raised a large chunk of money to help find a cure, please visit the Cure Tay-Sachs Foundation.

Family Fun, Labor Day 2009

Last week we went to Black Hills Regional Park to enjoy a nice day at the park. We had a great time, enjoying Chick-Fil-A for lunch, watching the boaters, blowing bubbles and playing on the playground.

In case you can’t see the video above, you can click here to watch it on YouTube.

PS. Lana wants to you know that she didn’t carve the wood.

Shut

I had the following conversation with Lauren when she got home from the second day of kindergarten:

Lauren: A boy in my class said “shut” today.
Me: He said what???
Lauren: Shut. My teacher told us that one time her son said a bad word. He said shut-up so he lost his video games for a few days because that wasn’t a nice word to say.
Me: Oh really?
Lauren: Yep. I guess shut isn’t a nice word. I think it means shut your mouth!

Oh dear. At least Lauren doesn’t have any idea what word that little boy was really saying! I have to admit that when I told Dave about this conversation, we laughed and laughed. :)

I would LOVE to know exactly how this all played out in the classroom and what exactly was said.

Lauren has been in school for two weeks now and thankfully we haven’t heard about anymore bad words!

Remembering 9/11

Carmen update: Carmen is still having some blood in her feeding tube and will start a month of Carafate. Hopefully this drug will heal her stomach.

Remember Betty Short’s prayer request for the little boy with the cleft palette and lip? Finn was born September 4th and is very healthy otherwise. Thank you for praying for this sweet baby.

***

We can all remember where we were and what we were doing eight years ago today. I was at a Bible study with my good friend and neighbor, Christina (I think it was a Beth Moore study but I can’t remember that part!). Someone came in and told our group that planes had hit the Twin Towers and they were gone. I remember thinking that was the most ridiculous thing I had ever heard. How in the world can two 110 story buildings be gone? I could only imagine them falling over side-ways and that made no sense. Then someone came in and told us the Pentagon had been hit. Several of the ladies had husbands who worked at the Pentagon so our study was stopped abruptly.

Christina drove us home and unfortunately neither one of us had a TV. We went to a neighbor’s house to watch footage of the attacks. It was so surreal.

Dave was in England on a work project. He had flown out of Dulles in Virginia the night before. We couldn’t get in touch with each other because all the phone lines were tied up but I think eventually his brother or mom called to check on me.

The previous summer Dave had been on a work project in Manhattan and we had often stayed in the World Trade Center Marriott. We moved around from hotel to hotel in Manhattan so we could enjoy different parts of the city but the World Trade Center Marriott was our favorite (great gym overlooking the Hudson and great breakfast buffet). We often ate at restaurants near the Towers. We ate our first Thai food at the Lemongrass Grill, which was across the street. I spent a lot of time near the Towers walking around and I remember often buying plums from a street vendor who set up between the Towers.

This morning I mentioned to Lauren that today is September 11th, a very sad and important day for the United States. I told her that some men wanted to hurt our country and flew planes into buildings and the buildings caught on fire and fell down. Lauren asked, “Was the lady in that building?” I asked, “What lady?” Lauren said, “You know, the one who got burned. The one named Lauren.”

While I was pregnant with Lauren, I read the book Love, Greg and Lauren. Lauren Manning was in the lobby of Tower One when a fireball exploded from the elevator shaft. She was burned over 82.5% of her body. Greg, her husband, wrote emails updating on his wife’s condition and later those emails were published as a book. Miraculously, Lauren survived. This book is a testament to Lauren’s strength and Greg’s devotion and love.

We had always loved the name Lauren, but after reading about this courageous woman, we decided to name our daughter Lauren.

What were you doing on 9/11?

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