I've given up baths. I drool myself clean.
Sunday, March 29, 2009
Friday, March 27, 2009
Wow.
The geneticist called me. I have the AXIN2 mutation. It's extremely rare and only one other instance in the literature in this Finnish family. It's nothing I didn't know. They want to publish because again, it is extremely rare and the instance to detect this mutation is relatively new and trendsetting. The surprise to me is that the two (colon polyps & missing teeth) are linked. It's a big time research finding.
I am just that special.
From the net (of course):
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility.
I am just that special.
From the net (of course):
Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance. Eleven members of the family lacked at least eight permanent teeth, two of whom developed only three permanent teeth. Colorectal cancer or precancerous lesions of variable types were found in eight of the patients with oligodontia. We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. In addition, we identified a de novo frameshift mutation 1994-1995insG in AXIN2 in an unrelated young patient with severe tooth agenesis. Both mutations are expected to activate Wnt signaling. The results provide the first evidence of the importance of Wnt signaling for the development of dentition in humans and suggest that an intricate control of Wnt-signal activity is necessary for normal tooth development, since both inhibition and stimulation of Wnt signaling may lead to tooth agenesis. Our findings introduce a new gene for hereditary colorectal cancer and suggest that tooth agenesis may be an indicator of cancer susceptibility.
Thursday, March 26, 2009
Thursday, March 19, 2009
Where has she gone?
Surprise of all surprises, Vi has been having a difficult time sleeping. The last two weekends the naps went. I tried to put her down and the minute she went into the crib alone, she woke up. She wasn't even overtired as she usually becomes when not napping. Her usual 3 hour nap at daycare became two. She usually wakes up in the night to eat around three. Last night, she wouldn't go down to bed until 10:00. Then she was up at 1 actually crying (usually just talks and sings until I come get her), then ate 6 oz, then was up at 3:20 (which I ignored) and then 5:20. At 5:20 I ran in and put on her Sunny Sunshine to give me 10 minutes more in bed. I then changed her and fed her (4 oz), and put her in her play seat in the bedroom and jumped back into bed with P for 15 minutes.
What happened to my kid that sleeps? Perhaps is she teething????
Ugh.
What happened to my kid that sleeps? Perhaps is she teething????
Ugh.
Sunday, March 15, 2009
Dear Doubters
I sat up all by myself today. Mama is working with me. I'm a bit shaky, but definately am making progress. I wish everyone would have encouraged me more.
Sincerely,
Vi
Sincerely,
Vi
Tuesday, March 10, 2009
A Little Down
I have to admit, I'm a little down today.
Vi has had a 'daycare cough' for around a month. I bought a cool mist humidifier and that really helped. Last night she coughed like crazy and this morning at 4:30 coughed so horribly I knew she couldn't go to daycare today. So I emailed and called work and we went back to bed until almost 8 (thank goodness!). P is in Boston all week so I'm on my own. P usually works until 8 or 9, but I have to admit, I'm pretty lonely. Vi is still coughing up a storm and I don't know if I'll bring her tomorrow, although I hate to take two days off work when she seems otherwise fine.
The bad news is that the doctor felt there were was delay in Vi's motor skills, especially her torso muscles and of course her not sitting up. She's seen a tiny bit of improvement but thinks she is 1.5 - 2 months behind in gross motor skills. Her fine motor skills appear fine. I don't think she is retarded or anything like that. She was referred for early intervention for physicial therapy, which in Michigan is provided by the school district.
I'm devastated to say the least. No one wants anything to be wrong with their child. I know it's relately minor, that my child doesn't have a fatal disease or anything, but you wonder what you did or didn't do or what caused this, etc. I knew it in my heart, but just couldn't accept it until now.
Please pray for us.
Vi has had a 'daycare cough' for around a month. I bought a cool mist humidifier and that really helped. Last night she coughed like crazy and this morning at 4:30 coughed so horribly I knew she couldn't go to daycare today. So I emailed and called work and we went back to bed until almost 8 (thank goodness!). P is in Boston all week so I'm on my own. P usually works until 8 or 9, but I have to admit, I'm pretty lonely. Vi is still coughing up a storm and I don't know if I'll bring her tomorrow, although I hate to take two days off work when she seems otherwise fine.
The bad news is that the doctor felt there were was delay in Vi's motor skills, especially her torso muscles and of course her not sitting up. She's seen a tiny bit of improvement but thinks she is 1.5 - 2 months behind in gross motor skills. Her fine motor skills appear fine. I don't think she is retarded or anything like that. She was referred for early intervention for physicial therapy, which in Michigan is provided by the school district.
I'm devastated to say the least. No one wants anything to be wrong with their child. I know it's relately minor, that my child doesn't have a fatal disease or anything, but you wonder what you did or didn't do or what caused this, etc. I knew it in my heart, but just couldn't accept it until now.
Please pray for us.
Monday, March 9, 2009
Concern
I have been concerned for some time and only now am able to verbalize it. My daughter physically seems slow. Especially compared to other kids her age. Yesterday I met my friend A and her son who is two weeks older than Vi (and born early). The kids played. Vi had stranger anxiety and cried a bit which she has been doing a LOT lately. A's little boy was climbing and pulling up and rolling around. Vi just sat propped up. People always say - don't compare your baby to any other. I'm trying not too. I was reading on Babycenter.com that 84% of babies sit up by the 6 month mark. Tomorrow she turns seven months old. And she is not close. Daycare is quite concerned and claim in the last month, they've seen no progress. They feel that she is just not strong.
I honestly don't think she's behind in other ways. Her fine motor skills are good, her verbal ability is above average, and she eats like a champ. She rolls over onto her tummy a lot now, less so onto her back. Her legs still buckle a bit when you try to bounce her up and down.
We have a 6 month old wellness check on Thursday evening, so we'll be discussing this. Keep us in your thoughts and prayers.
I honestly don't think she's behind in other ways. Her fine motor skills are good, her verbal ability is above average, and she eats like a champ. She rolls over onto her tummy a lot now, less so onto her back. Her legs still buckle a bit when you try to bounce her up and down.
We have a 6 month old wellness check on Thursday evening, so we'll be discussing this. Keep us in your thoughts and prayers.
Daylight Savings Time
Is not my friend. IN fact, right now, it is my worst enemy. I had Vi on a great routine last week, she slept through the night for 6 nights. Now... it's gone :(
Friday, March 6, 2009
25 things about me
This has been going around Facebook, so here I go:
25 things about me.....
1. I've had short hair my entire life until about 7 years ago. Now it is the longest it has ever been and I am really enjoying it.
2. My name Jennifer was extremely popular in the 70's. My mother said that no one else had the name Jennifer until after she named her me that. It was difficult being one of a million Jennifers at everything growing up.
3. For four years we tried to have a baby. Four different physicians told me I would never conceive on my own and I was denied any further infertility treatment. When I found out I was pregnant, it was a huge surprise and I was in serious shock for over two weeks.
4. Sometimes I all I can think about is having more children as rapidly as possible.
5. My favorite TV show of all time is Unsolved Mysteries. It's back on the "Spike" channel but not even close to being as good without Robert Stack and the old theme music.
6. I grew up in a small town in Northern Michigan that is a two hour drive from the nearest freeway and 2.5 hours from the nearest city having anything.
7. I would like to go back to school and be a Physician's Assistant. I wanted to be an MD.
8. I don't eat any wheat which can be really difficult since everything is made of wheat. It's a challenge. But my heartburn, digestive problems, and infertility have significantly improved since I stopped and It's been almost two years.
9. Exercise and being active are my very favorite things, especially if I can do them outdoors. A great day isn't a great day without some exercise.
10. My favorite color is blue of all shades, and wardrobe-wise, I wear a lot of it along with black. My entire house would be shades of blue inside if I could swing it.
11. I have lost 80 pounds and kept it off for some time now. Most people don't know me as being that way, which can be a relief.
12. Today, I think more kids should have a job (how old fashioned). I've worked since I've been 11 years old (serving at weddings - the best job ever), babysitting, dentist's office and it really shaped who I've become.
13. Organ donation is a cause of mine. My father received a kidney transplant from an unrelated donor in 1991 and had it for 14 years.
14. My mom has record numbers of colon polyps in her colon. My aunts also have colon polyps. I've been seeing a Geneticist in the clinic and they think it may be linked to this weird teeth inheritance problem we also have. The only other reported case is in a family from Finland, so the clinic is super interested in us. We're that special!
15. I love exotic food. Growing up we were strictly a meat, potatoes and veg family with pepper and marg as the only seasoning. We don't eat that way at all now.
16. We got to live in the UK right after we were married which enabled us to do a ton of travel. It was really super to visit so many great places.
17. I love sales. A good quantity of everything I buy is with a coupon, on sale, or on clearance.
18. In my 20's I used to be big time into campaigning, working on campaigns, and the Democratic Party. I received Young Democrat of the Year award, and stuff like that. I was the best democrat ever. In the last election, I voted Republican.
19. My favorite book of all time is "The Stand" by Stephen King. It really isn't a horror book, but it makes you look at the world and think 'what if'.
20. My goal is to play some sports regularly, perhaps in a league like tennis, volleyball, Racquetball, or basketball.
21. One time as a child, I got my bell bottom jeans (complete with rainbow patch) stuck in the chain of my banana seat bicycle while riding through a Sambo's Restaurant parking lot near my grandma's house. My grandma came down with scissors to help me get unstuck and I had to ride back to her house on my sister's bike in my underpants because it was such a complicated job.
22. My co-workers are the greatest. Seriously. They make coming to work fun. We always have a bit of a laugh, and can rely on each other.
23. My secret hobby wish is to be a master gardener but I don't have the time or the energy.
24. I am not crafty at all. Especially for anything that requires exactness. I cannot cut a straight line or cross stitch or sew or crochet no matter how hard I try. I've accepted this, but I still don't like it.
25. Whew... this is a lot of stuff.
25 things about me.....
1. I've had short hair my entire life until about 7 years ago. Now it is the longest it has ever been and I am really enjoying it.
2. My name Jennifer was extremely popular in the 70's. My mother said that no one else had the name Jennifer until after she named her me that. It was difficult being one of a million Jennifers at everything growing up.
3. For four years we tried to have a baby. Four different physicians told me I would never conceive on my own and I was denied any further infertility treatment. When I found out I was pregnant, it was a huge surprise and I was in serious shock for over two weeks.
4. Sometimes I all I can think about is having more children as rapidly as possible.
5. My favorite TV show of all time is Unsolved Mysteries. It's back on the "Spike" channel but not even close to being as good without Robert Stack and the old theme music.
6. I grew up in a small town in Northern Michigan that is a two hour drive from the nearest freeway and 2.5 hours from the nearest city having anything.
7. I would like to go back to school and be a Physician's Assistant. I wanted to be an MD.
8. I don't eat any wheat which can be really difficult since everything is made of wheat. It's a challenge. But my heartburn, digestive problems, and infertility have significantly improved since I stopped and It's been almost two years.
9. Exercise and being active are my very favorite things, especially if I can do them outdoors. A great day isn't a great day without some exercise.
10. My favorite color is blue of all shades, and wardrobe-wise, I wear a lot of it along with black. My entire house would be shades of blue inside if I could swing it.
11. I have lost 80 pounds and kept it off for some time now. Most people don't know me as being that way, which can be a relief.
12. Today, I think more kids should have a job (how old fashioned). I've worked since I've been 11 years old (serving at weddings - the best job ever), babysitting, dentist's office and it really shaped who I've become.
13. Organ donation is a cause of mine. My father received a kidney transplant from an unrelated donor in 1991 and had it for 14 years.
14. My mom has record numbers of colon polyps in her colon. My aunts also have colon polyps. I've been seeing a Geneticist in the clinic and they think it may be linked to this weird teeth inheritance problem we also have. The only other reported case is in a family from Finland, so the clinic is super interested in us. We're that special!
15. I love exotic food. Growing up we were strictly a meat, potatoes and veg family with pepper and marg as the only seasoning. We don't eat that way at all now.
16. We got to live in the UK right after we were married which enabled us to do a ton of travel. It was really super to visit so many great places.
17. I love sales. A good quantity of everything I buy is with a coupon, on sale, or on clearance.
18. In my 20's I used to be big time into campaigning, working on campaigns, and the Democratic Party. I received Young Democrat of the Year award, and stuff like that. I was the best democrat ever. In the last election, I voted Republican.
19. My favorite book of all time is "The Stand" by Stephen King. It really isn't a horror book, but it makes you look at the world and think 'what if'.
20. My goal is to play some sports regularly, perhaps in a league like tennis, volleyball, Racquetball, or basketball.
21. One time as a child, I got my bell bottom jeans (complete with rainbow patch) stuck in the chain of my banana seat bicycle while riding through a Sambo's Restaurant parking lot near my grandma's house. My grandma came down with scissors to help me get unstuck and I had to ride back to her house on my sister's bike in my underpants because it was such a complicated job.
22. My co-workers are the greatest. Seriously. They make coming to work fun. We always have a bit of a laugh, and can rely on each other.
23. My secret hobby wish is to be a master gardener but I don't have the time or the energy.
24. I am not crafty at all. Especially for anything that requires exactness. I cannot cut a straight line or cross stitch or sew or crochet no matter how hard I try. I've accepted this, but I still don't like it.
25. Whew... this is a lot of stuff.
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