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| Jake relaxing on this chilly day! |
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| Olivia going to say hi to him! |
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| Olivia throwing my papers that I need to grade on the floor! |
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| No work mommy!! |
Christmas Eve December 20
6 years ago
Saturday, February 11, 2012
Winter arrived
Winter arrived today. Not fun! It was rather chilly and then temperature decreased throughout the day. Olivia did get to wear some of her winter clothes though. She wore a little fleece set today. It was perfect for today. She is still a little stuffed up and today was a little drippy from the nose so we didn't go anywhere. We did the usual- lots of playing. Olivia is getting a little more daring and letting go when she stands and is rotating from furniture to furniture (she will turn around while standing and transition to the furniture behind her). Also Olivia started clapping!!! She did it on the changing table the other day but I got her to do it in the high chair today too! I tried to get it on video of course she wouldn't clap! Tomorrow is supposed to be another chilly day! So we will probably be bundled up again!
About being a CF carrier- what does that mean?
So we have gotten several questions about being a Cystic Fibrosis carrier and what does that mean- I think many people are scared and a little freaked out. We are not trying to share this information to scare anyone- we are trying to inform people. So I will try to answer the questions as best as possible. Most of the information that we have been given and stick by is from Cystic Fibrosis Foundation (which we got from our pediatrician and Emory) we try not to read forums about it because we need concrete medical information. So here is some Q and A's from the CFF website that may help answer your questions:
What is CF?
Cystic fibrosis is a genetic disease that causes the body to make a thick, sticky mucus that clogs the lungs and other organs, such as the pancreas. In the lungs, this mucus leads to chronic infections and progressive loss of lung function.
The mucus blocks the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food, and it can also block the bile duct in the liver, eventually causing permanent damage in approximately 6 percent of people with CF. The disease also affects the ability of most men with CF to have children.
Symptoms of CF include: salty-tasting skin; persistent coughing; frequent pneumonia, wheezing or shortness of breath; a failure to gain weight at the normal rate, perhaps with excessive appetite; and difficulty in having a bowel movement or frequent, abnormal bowel movements.
Today, because of improved medical treatments and care, more than 45 percent of patients with the disease are age 18 or older and many people with CF can expect to live into their 30s, 40s and beyond. Although the outlook for people with CF is improving, there is no cure.
What is a CF carrier?
Should I get genetic carrier testing for CF?
Your decision to be genetically tested to learn if you carry a mutation or mutations of the CF gene may be difficult and is a personal choice. You may wish to talk with your medical or religious advisers to help you decide. The American College of Obstetricians and Gynecologists (ACOG) suggests that all couples who are considering having a child — or those who are already pregnant — should be offered genetic carrier testing for CF.
How does someone inherit a mutation of the CF gene?
People inherit genes from their parents. To have CF, a child must inherit one copy of a mutation of the CF gene from each parent. In other words, the child must have two copies of the defective gene to have CF. They could have two copies of one type of CF mutation, or have a copy of two different CF mutations. Both males and females can have the disease.
A person who has only one copy of one mutation does not have CF and is considered a "carrier" of the CF gene.
What does a positive genetic carrier test for CF mean?
A “positive” genetic carrier test for CF means that a person has a mutation of the CF gene; this result is more than 99 percent accurate. A "negative" carrier test result is not as accurate. With more than 1,000 different mutations of the CF gene, there are some rare ones that the test does not identify.
Thus, if your test is negative for a mutation of the CF gene, there is still a small chance you could be a carrier of one of the rare mutations. The degree of chance depends on your race or ethnic group and the type of genetic carrier test you receive.
How common is it to carry a CF gene or to have CF?
The chances of being a CF carrier (with one CF mutation) or having CF (with two CF mutations) depend on your race and ethnicity. CF gene mutations are most common in Caucasian Americans (white people whose ancestors or family are from Europe).
In the U.S., the number of people who carry a CF gene is about:
Since having one copy of the defective CF gene does not cause symptoms, this copy can be passed down to family members without any impact on their health. Unless they have a child with CF, many people who are carriers of a CF gene do not know it.
Once parents have had a child diagnosed with CF, all of their children should be tested for the disease, whether they are showing symptoms or not. Other relatives also have a chance of being CF carriers and may wish to get a genetic carrier test for CF, or they may wish to be given the sweat test if they are showing symptoms of CF.
Here is a helpful diagram:
The left side can be interchanged with either the father or mother being the carrier- this situation would be where only one parent is the carrier. The right side both parents are the carriers (like us).
What is CF?
Cystic fibrosis is a genetic disease that causes the body to make a thick, sticky mucus that clogs the lungs and other organs, such as the pancreas. In the lungs, this mucus leads to chronic infections and progressive loss of lung function.
The mucus blocks the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food, and it can also block the bile duct in the liver, eventually causing permanent damage in approximately 6 percent of people with CF. The disease also affects the ability of most men with CF to have children.
Symptoms of CF include: salty-tasting skin; persistent coughing; frequent pneumonia, wheezing or shortness of breath; a failure to gain weight at the normal rate, perhaps with excessive appetite; and difficulty in having a bowel movement or frequent, abnormal bowel movements.
Today, because of improved medical treatments and care, more than 45 percent of patients with the disease are age 18 or older and many people with CF can expect to live into their 30s, 40s and beyond. Although the outlook for people with CF is improving, there is no cure.
What is a CF carrier?
We all have thousands of pairs of genes in our bodies. Each pair of genes
"tells" our bodies how to look and act, how tall we will be, what color our eyes will be,
and so on. Everybody has two CF genes. However, to have cystic fibrosis, a person has to
have two altered copies of the CF gene. A person having only one altered
copy of the CF gene is called a CF carrier. A carrier does not have, and will never
develop cystic fibrosis
Your decision to be genetically tested to learn if you carry a mutation or mutations of the CF gene may be difficult and is a personal choice. You may wish to talk with your medical or religious advisers to help you decide. The American College of Obstetricians and Gynecologists (ACOG) suggests that all couples who are considering having a child — or those who are already pregnant — should be offered genetic carrier testing for CF.
How does someone inherit a mutation of the CF gene?
People inherit genes from their parents. To have CF, a child must inherit one copy of a mutation of the CF gene from each parent. In other words, the child must have two copies of the defective gene to have CF. They could have two copies of one type of CF mutation, or have a copy of two different CF mutations. Both males and females can have the disease.
A person who has only one copy of one mutation does not have CF and is considered a "carrier" of the CF gene.
What does a positive genetic carrier test for CF mean?
A “positive” genetic carrier test for CF means that a person has a mutation of the CF gene; this result is more than 99 percent accurate. A "negative" carrier test result is not as accurate. With more than 1,000 different mutations of the CF gene, there are some rare ones that the test does not identify.
Thus, if your test is negative for a mutation of the CF gene, there is still a small chance you could be a carrier of one of the rare mutations. The degree of chance depends on your race or ethnic group and the type of genetic carrier test you receive.
How common is it to carry a CF gene or to have CF?
The chances of being a CF carrier (with one CF mutation) or having CF (with two CF mutations) depend on your race and ethnicity. CF gene mutations are most common in Caucasian Americans (white people whose ancestors or family are from Europe).
In the U.S., the number of people who carry a CF gene is about:
- 1 in 29 Caucasian Americans;
- 1 in 46 Hispanic Americans;
- 1 in 65 African Americans; and
- 1 in 90 Asian Americans.
- 1 in 2,500–3,500 Caucasian Americans;
- 1 in 4,000–10,000 Hispanic Americans;
- 1 in 15,000–20,000 African Americans; and
- 1 in 100,000 Asian Americans.
Since having one copy of the defective CF gene does not cause symptoms, this copy can be passed down to family members without any impact on their health. Unless they have a child with CF, many people who are carriers of a CF gene do not know it.
Once parents have had a child diagnosed with CF, all of their children should be tested for the disease, whether they are showing symptoms or not. Other relatives also have a chance of being CF carriers and may wish to get a genetic carrier test for CF, or they may wish to be given the sweat test if they are showing symptoms of CF.
Here is a helpful diagram:
The left side can be interchanged with either the father or mother being the carrier- this situation would be where only one parent is the carrier. The right side both parents are the carriers (like us).
Friday, February 10, 2012
Valentine Party
Today was Olivia's first Valentine Party with they Gymboree gang! It was so much fun. It was great to see everyone again and how big everyone's babies are getting.
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| Playing in Nikki's Fisher Price Heaven |
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| Look we can play together! |
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| Red Velvet Cupcakes |
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| Picture time |
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| Nope... |
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| Try again... |
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| Almost... |
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| Nope... |
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| Not quite yet... |
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| Ahhh... someone is escaping! |
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| Liliana- start singing! |
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| Pretty close! |
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| The Bachelors |
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| The Bachelorettes |
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| Non party related- peach buds opening |
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| Black and White! |
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| Trying on the headband- didn't last too long! |
Thursday, February 9, 2012
It's in your genes
Yes talking about genes... and not blue jeans like you wear, genes that make up who you are. I know it is late posting this but I have been thinking and rethinking of how to write this. I feel like a phony, a fake, a liar... whatever you want to call it. But it is something personal that we wanted to keep to ourselves until we knew more information. So I will try to tell the story as coherent as I can since I am a bit exhausted from thinking too much.
Shortly after Olivia was born we got called in to the pediatrician's office before our next scheduled visit. I knew right then and there something was wrong. Doctors don't usually call you to come in, it is usually the other way around. It was about her neonatal screening they did at the hospital- I even remember them doing it- I saw her little splotches of blood on the card. Come to find out Olivia came back with a genetic marker for Cystic Fibrosis. She has what is called a Delta F508 genetic mutation. We did 3 sweat tests at Egleston to determine if she was just a carrier or if indeed she had the disease since neither of us knew of this running in our families. The first test- she didn't sweat (she was only a week old). The second test- they got 2 different readings - one from each arm.- one normal the other elevated The third test finally came back in the normal range so they concluded she was only a carrier of CF. We visited the CF clinic at Egleston and got lots of information- almost information overload. So for awhile we really haven't thought about it. In the back of my mind I wanted to know which one of us was the carrier to figure out all the genetics- I like doing all those Punnett squares. Olivia has grown into a very healthy baby- there are some really early warning signs of CF which we never saw- salty skin and not passing the meconium (1st baby poop stuff).
So a few weeks ago we decided to go and get the testing done. I figured, why not get this out of the way and then I can stop thinking about it. About 2 weeks ago we went to the Emory Genetics lab and met with a counselor and an Obstetrician. They reiterated all the information about CF that we already knew and the possibilities of how Olivia could have become a CF carrier. We had the option of taking the CF only test or we could take a test that would also let us know 107 other possible genetic mutations we are carrying. So we opted for the 2nd test. So instead of giving blood, my least favorite thing to do anyways, we did a spit test. We had to spit in a test tube like thing and fill it up about a 1/2 inch. Seems easy right? Not so much- the amount of saliva you have in your mouth really isn't a lot at all. It took me a bit longer than Brendon but we got it done. We have been playing the waiting game for 2 longs weeks.....
Finally today we got the call and it ends up we (Brendon and I) are both CF carriers. The odds of that are so slim (1 in 400 carriers marry each other) but 1 out of every 25 or 30 people are CF carriers. I am still in shock. I expected it to be one of us, but both of us? Geez God, I thought you were finished putting us through these trials for awhile. So there is a lot to think about. If we tried to have another child there are some different scenarios- 50% they could just be a CF carrier, 25% have CF, and 25% not be a carrier and not have CF. The genetics counselor also gave us three options when we met with them before knowing the results- do IVF, do an IUI with a donor, or adopt.
Some heavy stuff right? So I guess you see what I have been thinking about. I do want another child. I know there are risks but now that we know some of this information I would like to use it for its benefits rather than its negatives. I know that we are so blessed and thankful that we have Olivia. I thank my lucky stars every day for her, but the lingering of the future in the back of my mind is there. I am sure people are thinking, "Gosh, you have been through so much already, how could you think of trying again?" or even the negative thought of , "Gosh, your being so selfish" Its that thinking that keeps me going- I am not selfish by any means, I am a giver and would like to give another chance at becoming pregnant- not right this second though. I loved being pregnant and love having Olivia, but I am not will to close the doors to my future just because I am a carrier of CF. I am not a quitter and I can't quit on myself.
So I am ending this entry with the Bible quote that I remind myself of daily...
"For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future"
Shortly after Olivia was born we got called in to the pediatrician's office before our next scheduled visit. I knew right then and there something was wrong. Doctors don't usually call you to come in, it is usually the other way around. It was about her neonatal screening they did at the hospital- I even remember them doing it- I saw her little splotches of blood on the card. Come to find out Olivia came back with a genetic marker for Cystic Fibrosis. She has what is called a Delta F508 genetic mutation. We did 3 sweat tests at Egleston to determine if she was just a carrier or if indeed she had the disease since neither of us knew of this running in our families. The first test- she didn't sweat (she was only a week old). The second test- they got 2 different readings - one from each arm.- one normal the other elevated The third test finally came back in the normal range so they concluded she was only a carrier of CF. We visited the CF clinic at Egleston and got lots of information- almost information overload. So for awhile we really haven't thought about it. In the back of my mind I wanted to know which one of us was the carrier to figure out all the genetics- I like doing all those Punnett squares. Olivia has grown into a very healthy baby- there are some really early warning signs of CF which we never saw- salty skin and not passing the meconium (1st baby poop stuff).
So a few weeks ago we decided to go and get the testing done. I figured, why not get this out of the way and then I can stop thinking about it. About 2 weeks ago we went to the Emory Genetics lab and met with a counselor and an Obstetrician. They reiterated all the information about CF that we already knew and the possibilities of how Olivia could have become a CF carrier. We had the option of taking the CF only test or we could take a test that would also let us know 107 other possible genetic mutations we are carrying. So we opted for the 2nd test. So instead of giving blood, my least favorite thing to do anyways, we did a spit test. We had to spit in a test tube like thing and fill it up about a 1/2 inch. Seems easy right? Not so much- the amount of saliva you have in your mouth really isn't a lot at all. It took me a bit longer than Brendon but we got it done. We have been playing the waiting game for 2 longs weeks.....
Finally today we got the call and it ends up we (Brendon and I) are both CF carriers. The odds of that are so slim (1 in 400 carriers marry each other) but 1 out of every 25 or 30 people are CF carriers. I am still in shock. I expected it to be one of us, but both of us? Geez God, I thought you were finished putting us through these trials for awhile. So there is a lot to think about. If we tried to have another child there are some different scenarios- 50% they could just be a CF carrier, 25% have CF, and 25% not be a carrier and not have CF. The genetics counselor also gave us three options when we met with them before knowing the results- do IVF, do an IUI with a donor, or adopt.
Some heavy stuff right? So I guess you see what I have been thinking about. I do want another child. I know there are risks but now that we know some of this information I would like to use it for its benefits rather than its negatives. I know that we are so blessed and thankful that we have Olivia. I thank my lucky stars every day for her, but the lingering of the future in the back of my mind is there. I am sure people are thinking, "Gosh, you have been through so much already, how could you think of trying again?" or even the negative thought of , "Gosh, your being so selfish" Its that thinking that keeps me going- I am not selfish by any means, I am a giver and would like to give another chance at becoming pregnant- not right this second though. I loved being pregnant and love having Olivia, but I am not will to close the doors to my future just because I am a carrier of CF. I am not a quitter and I can't quit on myself.
So I am ending this entry with the Bible quote that I remind myself of daily...
"For I know the plans I have for you,” declares the LORD, “plans to prosper you and not to harm you, plans to give you hope and a future"
Wednesday, February 8, 2012
Just a TAD Fussy
Olivia had a great morning at her daycare- Susan said she only cried when I left. Olivia was pretty tired on the way home and took a little cat nap. I decided to call the doctor on the way home because she has been a little stuffed up the past few days and can't clear it and I saw her tugging on her ear. She has also had a drippy eye. The eye will clear for a few days and then be yucky. So after lunch today Olivia and I went off to the doctor. She was REALLY good for the nurse practitioner and let her look in her ears, eyes, and mouth without a fuss. There is no ear infection- keep on using the humidifier, Vicks Vaporub- on chest and feet, and clear any mucus if we see any. The eye we got drops for and if it doesn't clear in a few weeks we need to go see an opthamologist and they will have to perform a procedure on her tear duct! Yikes. So we will be massaging the duct and putting the drops in. She took a very short nap while I worked on some snacks for our Valentine party (Thank you Pinterest for some great and easy ideas!) The rest of the night was spent whining, crying, and fussing. Thank goodness Brendon was home to help. We took turns with the crying. She ate some mashed potatoes and mixed veggies for dinner with a few pieces of meat. We tried to get a picture of Olivia in her Sabres jersey but that didn't happen to well.I hope tomorrow goes a bit better than today! I am exhausted!
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| My favorite book is about to fall apart! |
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| Playing with my baby! |
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| Olivia looks like a hockey player! |
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| Oh Jake! We love you! |
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| Brendon was trying some things out and took a panoramic picture of part of Olivia's room- too bad she was in the hallway! |
Tuesday, February 7, 2012
We have a woodchuck
How much wood would a woodchuck chuck
if a woodchuck could chuck wood?
if a woodchuck could chuck wood?
Well we will let you know since Olivia is a woodchuck and is gnawing on her crib! Brendon showed me the 2 sides of the crib and he said he could actually hear her gnawing. So I looked online at crib rail covers- super expensive. Then Duh!!! I used her bumper that doesn't get used! I will get a picture of it tomorrow but basically I folded it in half along the railing and tied it. I had to use some extra stuff to tie it. But for now that is working. This afternoon I wasn't feeling so hot- major headache and then Olivia topped it off by throwing up some of her carrots tonight. Not sure why... but she seemed fine. So needless to say it was an interesting afternoon and evening!
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| Barely hanging on with that elbow! |
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Monday, February 6, 2012
Not a lot of naps Monday
Olivia was not the fan of napping today. Brendon had a hard time this morning getting her down and she didn't want to nap after Gymboree today. Since she did not nap this morning she wasn't the most active participant at Gymboree. But she was alright there and then she took a cat nap in the car on the way home. Tonight she tried mixed vegetables and some pasta tonight and she did great. Also after dinner she stood on her own for about 20 seconds! She was of course distracted by holding something but she stood there all by herself!
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| You can kind of see the teeth! |
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| Going for a tube ride! |
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| Baby soccer! |
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| Bubbles |
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| Eating table food! |
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| Action shot of eating! |
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| Checking out what is in the recycle bin |
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| Relaxing in daddy's chair! |
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