Down Syndrome fact of the day, taken from nads.org:
"Many children with Down syndrome have health complications beyond the usual childhood illnesses. Approximately 40% of the children have congenital heart defects. It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present. Some of the heart conditions require surgery while others only require careful monitoring. Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives."
Austin has a VSD (hole in his heart) that we are currently "watching." If it doesn't close on its own by the time he's 2, he will need surgery to correct it. The VSD doesn't slow him down. It seems there's very little that does slow Austin down. I guess that would explain why I'm one tired Mommy. We have a lot of fun; it's all worth it. I wouldn't have it any other way.
Blessings,
K
Monday, October 18, 2010
Sunday, October 17, 2010
Let's talk Translocation 31 for 21 Day 17
A lot of people have asked me what it means to be a balanced carrier for Trisomy 21. This particular subject is complex, yet easy to comprehend once you get the main idea. I'll try my best to explain this in a way that won't have you yawning or worse, falling asleep. My husband is a balanced 21/22 carrier for Trisomy 21. Translocation Down syndrome is rare. The 21/22 translocation is very, very rare.
I often get the question, ”Does Down syndrome run in your family?” Of all people, I've been asked this exact question by a nurse! I told you I was going to put the rest all the misconceptions. This is one of those questions that is like nails on a chalkboard for me. First of all, Down syndrome isn’t like twins, as it doesn’t typically “run” in families. 90-95% of the time it’s just an error in cell division. It just happens and we don’t know why. (refer my post a few days ago about the 3 different types of Down syndrome if you’re confused.) The only form that can be(but NOT ALWAYS) hereditary is Translocation Down Syndrome. In our case, it is hereditary. We didn’t know this prior to Austin’s birth.
I also get questions about my husband.
If he’s a balanced carrier, what’s wrong with him?
Other than the fact that he snores at night, nothing. In all seriousness, there is no way to tell if a person is a balanced carrier just by looking at them. Our genetic doctor suspected that Ryan was the carrier before the results came back because his family has a history of miscarriages. Balanced carriers are not associated with any phenotypic abnormalities. In other words, they are clinically normal. Some of their genetic material is “rearranged“ - so to speak. However, since there isn’t any extra genetic material, it doesn’t affect them. There is a risk of unbalanced gametes which leads to miscarriages. Moreover, if the translocation involves chromosome 21, there is a higher chance of having a child with Down syndrome. In our case, my husband’s translocation involved chromosome 21 and 22. Based on this specific translocation, we have an increased risk for miscarriage and our increased risk for Down syndrome in future pregnancies is 5% or 1:20.
Are you going to have more children?
Yes. Just one more. Due to our increased risks, we are going to go the in vitro fertilization route for our next pregnancy.
What other types of balanced Translocations are related to Down syndrome besides 21/22?
13/21, 14/21 and 15/21 are the most common. There is also a 21/21.
Random Fact: The 21/21 Translocation is the only balanced translocation where the child will have a 100% chance of Down syndrome.
The other types come with varying risks that have to do with whether the carrier is the mother or father. The risk for recurrence is higher when the mother is carrier.
Here is a karyotype (example) of a balanced male carrier. This particular male has the 14/21 balanced translocation. I tried to find a karyotype for the 21/22 translocation, but it’s extremely rare and I had no such luck. Look in the lower right corner. Notice how the total chromosome count is: 45. Most of us have 46 chromosomes. Remember: No extra genetic material = doesn't affect them.
I'm a total genetic nerd, I know. Never in my life did I think I'd be writing about chromosomes and you know what? I like it.
That's all. I hope you're all a little more informed. :)
I often get the question, ”Does Down syndrome run in your family?” Of all people, I've been asked this exact question by a nurse! I told you I was going to put the rest all the misconceptions. This is one of those questions that is like nails on a chalkboard for me. First of all, Down syndrome isn’t like twins, as it doesn’t typically “run” in families. 90-95% of the time it’s just an error in cell division. It just happens and we don’t know why. (refer my post a few days ago about the 3 different types of Down syndrome if you’re confused.) The only form that can be(but NOT ALWAYS) hereditary is Translocation Down Syndrome. In our case, it is hereditary. We didn’t know this prior to Austin’s birth.
I also get questions about my husband.
If he’s a balanced carrier, what’s wrong with him?
Other than the fact that he snores at night, nothing. In all seriousness, there is no way to tell if a person is a balanced carrier just by looking at them. Our genetic doctor suspected that Ryan was the carrier before the results came back because his family has a history of miscarriages. Balanced carriers are not associated with any phenotypic abnormalities. In other words, they are clinically normal. Some of their genetic material is “rearranged“ - so to speak. However, since there isn’t any extra genetic material, it doesn’t affect them. There is a risk of unbalanced gametes which leads to miscarriages. Moreover, if the translocation involves chromosome 21, there is a higher chance of having a child with Down syndrome. In our case, my husband’s translocation involved chromosome 21 and 22. Based on this specific translocation, we have an increased risk for miscarriage and our increased risk for Down syndrome in future pregnancies is 5% or 1:20.
Are you going to have more children?
Yes. Just one more. Due to our increased risks, we are going to go the in vitro fertilization route for our next pregnancy.
What other types of balanced Translocations are related to Down syndrome besides 21/22?
13/21, 14/21 and 15/21 are the most common. There is also a 21/21.
Random Fact: The 21/21 Translocation is the only balanced translocation where the child will have a 100% chance of Down syndrome.
The other types come with varying risks that have to do with whether the carrier is the mother or father. The risk for recurrence is higher when the mother is carrier.
Here is a karyotype (example) of a balanced male carrier. This particular male has the 14/21 balanced translocation. I tried to find a karyotype for the 21/22 translocation, but it’s extremely rare and I had no such luck. Look in the lower right corner. Notice how the total chromosome count is: 45. Most of us have 46 chromosomes. Remember: No extra genetic material = doesn't affect them.
That's all. I hope you're all a little more informed. :)
Saturday, October 16, 2010
31 for 21, Day 16
I don’t do very well during the weekend when it comes to updating this blog . I’m determined to fulfill my 31 for 21 commitment though.
We bought Austin’s Halloween costume today. He looks ridiculously cute in it. We’ll unveil his costume later this month, so be on the lookout for pictures!
We went out to eat with friends tonight and Austin did so well at the restaurant. Any time Austin accompanies us to a restaurant, I always fear that we’ll be “that family.“ You know, the family who receives the dirty” why did you bring your screaming child to a restaurant” look. I’m sure we’ll eventually get that look, but so far Austin’s a very easy going baby when we’re out and about.
It’s late and I’m tired, so I’ll leave you with a video of Austin. I wish I could “bottle up” his sweet baby laugh and keep it forever. It doesn’t get much better than hearing a sweet baby laugh.
We bought Austin’s Halloween costume today. He looks ridiculously cute in it. We’ll unveil his costume later this month, so be on the lookout for pictures!
We went out to eat with friends tonight and Austin did so well at the restaurant. Any time Austin accompanies us to a restaurant, I always fear that we’ll be “that family.“ You know, the family who receives the dirty” why did you bring your screaming child to a restaurant” look. I’m sure we’ll eventually get that look, but so far Austin’s a very easy going baby when we’re out and about.
It’s late and I’m tired, so I’ll leave you with a video of Austin. I wish I could “bottle up” his sweet baby laugh and keep it forever. It doesn’t get much better than hearing a sweet baby laugh.
Friday, October 15, 2010
Austin's Montage for the Buddy Walk 31 for 21, Day 15
I made this a few months ago to promote the Buddy Walk. Enjoy :)
Thursday, October 14, 2010
A Beautiful Encounter 31 for 21, Day 14
Austin had his 6 month review with ECI today. We really need to work on the crawling position and sitting independently. My sweet child is stubborn. He gets that from me. The Occupational Therapist that did Austin’s first assessment when he began therapy is coming to visit us in 2 weeks. She and Austin’s ECI teacher will determine whether or not Austin will benefit from weekly therapy visits for a while. I hope she’s ready for Mr. Stubborn. I’m actually very excited that she will be the one working with him because she’s worked with children with Down syndrome for almost 30 years. She gave me a lot of inspiration and insight during that initial assessment.
I received an unexpected gift in the mail this evening that brought me to tears. I wish I could put into words how grateful and humbled I am by the generosity and kind words of these two beautiful people. You know who you are. From the bottom of our hearts, thank you.
I received an unexpected gift in the mail this evening that brought me to tears. I wish I could put into words how grateful and humbled I am by the generosity and kind words of these two beautiful people. You know who you are. From the bottom of our hearts, thank you.
It's time to eat!
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