Well, I am having issues getting the iPhotos onto blogger and the red eye removal button is driving me nuts. I am still getting used to this Mac stuff.
It is finally cold! Okay, not like Philly or St. Louis cold, but cold for Austin. That means Ellie Bear needed her fuzzy puppy blanket and a hat. No one said I couldn't use a santa hat. Of course once Ellie Bellie was all buckled into her car seat I was so stuck by her cuteness that I just had to start snapping pictures (see above).
We went to IHOP with Auntie Jess and Baby Grace. Gingerbread pancakes with sprinkles and unlimited coffee please! After that we went to Target. I am on a mission to find a pacifier that Ellie can keep in her mouth. There is an unproven theory that the pacifier will help children with hypotonia to maintain their oral muscle tone. Ellie's tongue thrust sometimes gets in the way. Other times she inadvertently pulls out the pacifier because she also wants to put her thumbs in her mouth.
Jess got a new haircut. You can see how smashing she looks in the photo above. You can also see just how darling little Baby Grace is.
If only I could find a way to get Stevie Wonder;s "One Little Christmas Tree" song out of my head . . .
Sorry, I couldn't help it. I just had to include a few more pictures.
No, we did not go to Cheers even though we once walked by one in Mittenwald, Germany. We went to Hoovers Southern Cookie, but more about that later.
I finally got onto the iMac! Yay! It is pretty and bright and organized nicely, which given my Type A, obsessive compulsive personality type is rather impressive. So score one for Apple. (I still refuse to switch my cell phone service back to AT&T which means no iPhone for Andrew or me--again, another long story but lets just say a few years ago I called the BBB on AT&T). Anyway, back to getting onto the iMac . . .I am still trying to figure things out and one of them is the iPhoto. I shall experiment with that on today's blog post. I took pics of Ellie Bear talking to me. She makes the cutest faces and yes, I know that I am biased as her mother but she really is the cutest baby ever!
Yesterday I performed "Operation Snowman". It is official, Christmas decorations are in every nook and cranny. Well, sort of. I couldn't put all of them out because I have a puppy. Yes, I know that I have a child, but she isn't walking yet. Sophie is a climber. She thinks she is a cat. The other day I found Amelie and Sophie lying on the guest bed and Tama up on the desk next to the guest bed where Papa C & Mama D were sleeping. They were just having a grand ole merry time like it was perfectly acceptable to have a dog on the bed and a cat on a desk. It should also be noted that one of the cats decided to "file" some of Andrew's paperwork. We are working on this but at this point Andrew and I are ready for overnight obedience camp. Ooh, Snoppy Vs. the Red Baron just came on from my iTunes Christmas playlist!
As some of you know, Andrew and I can be creatures of habit. Almost weekly we go to Hoovers on Saturday morning for breakfast. Yes, I know today is Sunday. Anyway, we always order the same thing and typically Derek is out waiter. Since we had Ellie, we have been going earlier in the morning when Derek is not in for work yet. Now, I know that this may come as a shock to many of you, but I am a talker. Yes, I know, surprising isn't it? Thus far we have made buddies with Elizabeth and with Sheila. (We did become buds with Nicole but she quit and moved to a different restaurant). Today Andrew and I woke up late (okay, I was up at 5am but went back to bed) and said "we can finally see Derek!". We get to Hoovers, but Derek is running late. Elizabeth approached us and said that we have been requested to sit at Table 14--the table next to our good friend Troy. Derek comes in and talks to us for about 20 minutes. While talking to us Sheila comes up to him and goes "this is the couple I told you about!". Hum, I guess that means they talk about us when we are not there :-P Ellie Bellie Bear-Bear has become famous seeing as Elizabeth, Derek, and Sheila all kept coming over throughout the meal to see her. In fact, Sheila got to hold Ellie. Then this other table came over with their two kids named Ally and Izzy to see "the baby" (obviously a look but do not touch thing). There is a problem however. I talk so much that I forget to eat and Andrew is practically done way before I have even started on my sweet potato pancake (yet I would have had 2 cups of coffee already).
Ellie reached two milestones today! She rolled over on purpose 3 times today and she is now reaching out and trying to hold a rattle. Yay! The rolling over was for real. Previous rolling overs were by accident during tummy time, but earlier today she finally figured out how to swing her leg just so to end up from tummy to back. She is also talking a lot more. She is really good with her vowels--"Oooo", ''Aaah". & "I" .
Yesterday we did venture out into the shops at the Domain. Yes, we went shopping on Black Friday. Yep, me the person who dislikes people and shopping. It actually wasn't horrendous like I thought it would be since all of the other people were sleeping after hanging out at Toys R Us and Kohls at 4:00 in the morning. We went to Apple Store, Dunja and Charles went to IKEA & Gymboree, and Andrew & Charles went to Lowes.
Andrew bought me an iMac for Christmas. It was his good idea :-) but I am starting to think that it is really for him. True, it is set up on my desk, but he has been the one using it thus far. He is uploading all 208 (look out Mateo) of our CDs onto iTunes so that we can then use them with our Apple TV. I haven't explored it that much yet but I did sync the calendar with iPod. It is color-coded!
Mama Dunja and Papa Charles bought Ellie the cute PJs in the pictures below.
These photos were taken last night by Mama Dunja and myself. Ellie was pretty tired when we took them.
Happy Thanksgiving everyone! I am thankful for many things: a loving family, Andrew bringing me coffee this morning, Ellie sleeping through the night, my furbabies, good friends, and the safe arrival of my in-laws after battling the evil highways between Dallas & Austin. This is a day that everyone thinks of things to be thankful for but I have lately been doing something called a "Gratitude Journal". This is also available as in iPod/iPhone application. I try to do it daily (sort of like this blog) but I ended up doing it maybe every 3rd day.
Ellie Bear woke up and decided to wear her outfit that gives thanks to her Mommy & Daddy (thank you Awa Grandma). Papa Charles & Mama Dunja drove down from Plano to join us in celebrating Thanksgiving at La Casa DiMarzio aka Rico & Michelle's house where about 36 people--all friends or family dined outside in the beautiful 60-something degree sunny Austin backyard.
Drew-Drew spent 20 hours smoking a 10-pound brisket just for the occasion. It turned out beautifully and went rather quickly at the Thanksgiving feast.
Rico spent the better part of the day smoking a large turkey and deep frying several turkeys.
Meanwhile, the boys stood around outside, beer in hand, like it was "King of the Hill". Can you identify which one of them is most like Hank Hill? Ellie was sleeping with her boyfriend Graham (get your mind out of the gutter!)
Do not think we forgot the furbabies. Tama and Amelie enjoyed a meal of Friskies Turkey & Cheese while Sophie chowed down on a Kong filled with peanut butter.
As many people know, well essentially only people in Texas know, today is the UT vs. Aggies (that is Texas A&M for all of you out there). Ellie Bear is decked out showing her support to the Longhorns.
This year we are not putting up our Christmas tree until Christmas Eve--late Christmas Eve. Oh sad. Everyone knows that I typically whip out the decorations the day after Thanksgiving. We have 4 very good reasons for this:
4. It is the Bruns family tradition to decorate the tree together while Manheim Steamroller is playing in the background. My parents do not arrive until Christmas Eve and Mateo doesn't arrive until 10pm.
3. Tama Boo. She actually isn't too bad with the tree. It is more like she loves wrapping paper and bows. No package is complete without teeth marks in the ribbon.
2. Sophie. We are not sure if a.) she thinks the tree if for potty breaks or b.) which is more likely--she will chase Amelie up the tree.
1. No your eyes do not deceive you. There is a cat IN the tree. Not under it but in it. Last year Amelie thought it was appropriate to take naps in the upper branches of the tree.
Andrew and I are noticing that Ellie is starting to talk a lot. Obviously not a shocker given how much I talk! She is especially vocal during tummy time. She loves being on her tummy and exclaims "Oooo" with the occasionally "I". She just gets so excited when she lifts her head up. She is also starting to become interested in toys. She likes to look at her mobile in the crib and likes to grab onto her burp clothe.
Last night Ellie Bear slept almost 12 hours! She was being a fussy little stinker yesterday and refused to nap so I guess she made up for it by sleeping so well last night.
Today is cleaning day. We are preparing for the Thanksgiving arrival of Papa Charles & Mama Dunja. Thus far I got the dusting done and some straightening up. Imagine my surprise when I walked into what I thought was an already clean guest room to find a hole in the wall with several ethernet wires sticking out, the desk askew, and tools next to the bed. Okay, honestly, I wasn't that surprised. Drewbie spend the weekend doing ethernet cable and infra-red wiring type of work that involved the attic, the niche in the living room, and of course, the guest room. It was all very high tech and complicated but the internet works well and the TV & projector work. It is a good thing Drew-Drew is so smart because I would have been hiring someone.
Time for Ellie and me to enjoy the sunshine!
Note: I hate this new formatting and I still cannot post comments. Blah!
It appears that blog spot updated some stuff and people could not comment as usual. I twiddled with the settings so hopefully things are back to normal. They also changed how to type posts so I am all confused again.
I have decided that massages should be considered preventative medicine and as thus should be covered by health insurance. As some of you know, I am now a member of a mother's club. Today we had our Fall Retreat at a day spa. I opted for the hour-long massage. It was glorious and I now smell very pretty. Massages are preventative because scientific studies have showed improved blood circulation (so heart healthy, right?) and improved lymphatic fluid flow (so increased immunity, thus preventing colds, right?). I also think that they can be considered therapeutic seeing as I walked out of the spa without back pain for the first time in nearly 7 months. Now I do know that some things like Medicaid will cover massages but come on Aetna PPO get with the program.
Sorry, no pictures today. Ellie Bear Bear is sleeping.
That's it! I have scientific proof that Ellie Bear is going to Penn just like her Mommy! Darling little Bear Bear has been very cranky all day--I blame the vaccines. Come on antibody development! Anyway, she was fussy until I sang the University of Pennsylvania fight song. She thought it was fun and she especially liked the refrain! Let's go Quakers!
Come all ye loyal classmen now In hall and campus through, Lift up your hearts and voices For the Royal Red and Blue
Fair Harvard has her crimson Old Yale her colors too, But for dear Pennsylvania We wear the Red and Blue.
(Refrain) Hurrah, hurrah Pennsylvania! Hurrah for the Red and the Blue! Hurrah, hurrah, hurrah, hurrah, Hurrah for the Red and Blue!
Yes, I know the the song is cheesy, but hey it was written a very long time ago. What can you expect from the 1st university (Harvard was the first college people, not university)? Penn was founded by Ben Franklin in 1740--hence the Fighting Quakers. Princeton, you are going down!
Albert Pujols, my favorite sports player (Go Cards!), is at it again! This Center is dedicated adults with DS. While there are many resources for children with DS and other special needs, there are limited resources for them once they turn 21 years-old. Good ole Pujols in conjunction with St. Luke's Hospital of STL is trying to change that. Not only that, but this center is near my parents :o) If I could just meet Pujols. . . http://www.stltoday.com/stltoday/news/stories.nsf/stlouiscitycounty/story/3BBE2A694A534AA8862576730017C3E7?OpenDocument
Favorite quote: "It is not what I do on the field, it's what I do off the field. I want people to remember me for that". --Albert Pujols
This is what I feel like doing right now. I am blaming the H1N1 flu shot for making me so tired.
Earlier today I had an acupuncture treatment. This person was recommended by a friend of mine who specializes in prenatal, post-partum, and back pain. I originally went in for hormonal issues which seemed to have cleared up so instead it became about my sacroiliac. I have had lower back trouble off and on since I injured it back in July 2008 (I was picking up a pair of pants and couldn't get back up--yes, a very strenuous activity, I know). I know that pregnancy and now hefting a large, ergonomically incorrect carrier did/do not help. Last night was so bad that I was ready to cry. Melissa did this fabulous shiatsu massage in the beginning. I immediately felt relaxed. I then had about 20 needles inserted into my head, neck, shoulders, back, and ankles. This procedure did not hurt and it actually felt pretty good when she turned on the heat lamp and let me hang out with stainless steel stuck in me for 15 minutes. I have to say that the one sticking straight out the top of my head caused immediate relaxation. However I still have the back pain. I have been told that it takes a few treatments to work. That being said, I am still not sure if it was really worth it. I think that a massage is more beneficial. . .
To all the mothers out there: when does "baby brain" go away? I tried to make these cookies this afternoon and I turned the oven on broil! Broil!!! Who makes cookies on broil? Apparently I do and fortunately I was able to salvage the cookies. This is like when I stuck the milk in the pantry and the cereal in the freezer.
This morning Ellie Bear-Bear and I met up with play-group buddy Judith and Baby Brennan. We had a fabulous time at Starbucks. Both Ellie and Brennan were making silly faces with Judith and I consumed large amounts of caffeine to get us through the day.
Babycakes is so much better at directing her fingers or thumb into her mouth. She occasionally misses and ends up whacking herself in the nose or eye but she her accuracy is improving. She is also starting to become much more in tune with her surroundings. I typically read books to her during her feedings but the other day she wouldn't eat because she was too enthralled with "Polar Bear, Polar Bear What Do You Hear?". No multi-tasking for Ellie.
Ellie had her two month appt. this afternoon. It was her first set of shots. Wah! She handled them beautifully. She did some screaming with a look of "oh mommy, why" and then fell asleep. When the pediatrician picked up Ellie to set her on the exam table, Ellie immediately put her legs down and her weight on her legs. The doctor was impressed. Then Ellie showed off her Olympic-in-training head lifting skills while on tummy and the pedi goes "oh goodness, she is doing better than most of my 2 month-olds". We are so proud of and amazed with our little Bear-Bear!
Her numbers on a regular growth chart: Wt: 10lb 3 oz (completely naked) or 45% Length: 22.25 in or 50% Head Circ: 36.5 cm or 15%
You know I never even made it onto the growth chart until high school. Ellie Bear is already surpassing my expectations :o)
While Ellie inherited Daddy's chubby cheeks she inherited my sensitive Irish skin. A few days ago my little princess broke out with a rash on her tummy. It has since improved but has spread to arms, legs, back, neck, cheeks, and scalp. I thought it might be a contact dermatitis but could not figure out to what. I rewashed all of her clothing and gave her a bath without soap the other day with no relief. Today the pedi and I decided that it is atophic dermatitis aka eczema. I guess I need to whip out the Eucerin cream.
I happened to be one of the lucky few people who got the H1N1 injectable vaccine. The vaccine is very hard to find in Texas and the injectable is almost nonexistent. My doctor only received 10 doses to use at his discretion. Originally they were not going to give it to me even though I am a parent to a child under 6 months until the pediatrician said that my daughter has conditions that make her an even higher risk.
It is amazing how time flies. It seems like yesterday we were bringing Ellie Bear home from the hospital. Okay, so it was practically yesterday. Now she is 2 months-old and thriving.
We celebrated today at IHOP with Auntie Jess and Baby Grace. We enjoyed gingerbread pancakes complete with holiday sprinkles. I do not know about you, but sprinkles make everything taste better.
Until then, off to feed babycakes and then prepare for my pediatric NP board recertification.
Nothing really new to report here. Ellie Bear is doing very well and likes to eat. The furbabies are nuts as usual. Andrew did some work on the projector while I did household chores.
Today is Jason's birthday so Happy Birthday!!!
This upcoming week Ellie has her 2 month well-child check. She will get her first set of shots :-( Ouch!
On Wednesday I am going to an acupuncturist. I have never had this done before and it seems like a lot of needles are involved. I figure that it cannot be any worse than when I got my tattoos. Anyway, I hope that it helps with this right-sided upper back pain that I am positive is related to that heavy infant carrier. I shall let you guys know on Wednesday.
Sophie is really started to look like Rodeo. Unfortunately, we keep accidentally calling her Rodeo and she actually responds. Of course I sometimes mix up the names with Amelie, Sophie, and Ellie. Yes, I called my own child Amelie the other day. I am sleep deprived.
Today Ellie and I attended our Mother's Group meeting. My Godson Grant did not say "Auntie Anna, what is this?" like he did the last time, but rather he called her "Grace". Grace is Grant's baby sister's name. Apparently all babies are "Grace".
Ellie received all sort of attention at the Group today. During prayer circle, she farted really loud. This caused most of the circle to burst out laughing. I guess Ellie doesn't realize that prayer circle is not for laughing, but rather for serious intentions. That is okay, for babies are excused from being lady-like in public. Then she was passed around among several of the members where each person cooed at her. She was such a good little baby!
We made autumn-themed centerpieces today during part of group. Typically we have social time and then a speaker yet today I was expected to be creative and such. Mine looks like a toddler made it. I now have it proudly sitting on our kitchen table.
My fellow friend who is the foster mom to this beautiful 9 month-old girl with DS was there today. We introduced the babies to each other and they each tried to grab at one another. I think in the baby world, this means that they are friends :-)
Last night Ellie had the hiccups and this distressed Andrew to no end. While I try in vain to get rid of them, I do not have the "special touch". Andrew does. The photos on today's post depict Andrew's awesome hiccup-curing ability.
Okay, now onto Part 2 of this 2 part installment.Why am I torturing you with medical information in a research paper format you might ask?Or maybe you do not care which is absolutely fine too.It is because Andrew and I are frequently asked some of these questions. . .well not about the history of DS per say, but about everything else.Rather than having to constantly repeat everything, it is just easier for us to post it on the blog.
Disclaimer: Same as yesterday’s.Please remember that these are just numbers and risks.Yes, some of these things freaked me out, but I just need to remember that Ellie Bear is not a number or a percentage but is a strong, brilliant baby who is already amazed us in so many ways.She is a super star as are other children with special needs.
Note: I forgot to include a reference at the end of Part 1 on the previous post.I have included it on the bottom of this post. The table at the top of this blog is from the NDSS pamphlet or reference #1.
Development:Please refer to the table above.There are many misconceptions about DS.Your child will never walk.You child will never read or write.Your child will not talk.Your child will never tell time or be able to feed herself. , Uh no! Andrew and I and friends have heard all of the statement above.Unless there are severe orthopedic problems, severe mental retardation, or other health issues, children with DS will development just like other children.They will complete the same milestones in the same order, but at their own pace.So while most children may walk by 14 months of age, Ellie might walk at 18 months-2 years.She WILL walk.
Early Childhood Intervention helps these children approach these milestones via physical therapy (PT), occupational therapy (OT), and speech therapy.That is why Ellie Bear is already in ECI.It is also why I torture her with tummy time and the side lying position.
Medical Conditions Associated with DS:I will do this in list form since it is easier.Some of these are rather scary, but those tend to be rare.Ellie is frequently or will be frequently screen for these conditions.This is why it feels like we live in specialists’ offices.It is better to rule out or catch early any of these conditions.The screenings are much more frequent in the first year of life and after that may be performed yearly.
Some of these issues are associated with the extra chromosome such as Alzheimer’s Disease and then there are conditions related to the hypotonia (low tone) such as constipation and poor feeding secondary to a poor suck.Ellie clearly does not have the poor feeding as seen by her excellent weight gain thus placing her at the 95% on the DS Growth Chart.
Hypotonia—Okay, I do not have an actual percentage, but apparently almost all children with DS have it.It is one of the diagnostic markers and they a lovingly compared to a “sack of potatoes” as per Dr. Del Angel at the Dell Down Syndrome Clinic.Ellie Bear has good tone.It is not 100% normal but she has very mild hypotonia.This is fabulous because many of the developmental delays and some health conditions (ie reflux, constipation, delayed rolling over, speech delays) are all related to poor tone.Right now, our biggest goal is to maintain this tone.
Mental Retardation (MR)—this can be mild, moderate, or severe.Severe (IQ <30) style=""> I do not have percentages on this.
Celiac Disease—12% (1,4)She will be screened at 6 months (2).
Thyroid Disorders—15% (1,4) Most common is hypothyroidism which is easily corrected with thyroid hormone supplements.Ellie will be checked at 6 months, 12 months, and then yearly (4).
Obstructive Sleep Apnea—45-70% (1,4).This is the result of the narrow palate and large tongue.The adenoids also tend to be abnormally large.Ellie actually has a normal palate, but I am not sure about the adenoids).
Hearing Loss—50-75% (1,4).Some of this can be related to frequent ear infections or severe narrowing of the ear canals.Ellie’s left side is narrow, but the right side is normal.She also passed her newborn hearing screen.
Also, she loves to hear me sing so I know she can hear, but she must not realize that I sing off-key
Eye Problems—60% (1, 4).This especially includes cataracts at a young age and lazy eye.
Pulmonary Infections--Increased risk for respiratory infections such as pneumonia.Dr. Immken explained that they had lower immune systems and narrow airways thus making them more susceptible to these respiratory infections (3).My Father recalls my Aunt coming down with bronchitis and pneumonia.Rather it was because of the DS or because she lived in a smoking home, I do not know.
Autism—7-10% (3,4)+ genetic predisposition makes the risk higher for Ellie
Leukemia—1-2% (1,3,4)Okay this one scares me even though the percentage is so low.The age is typically between 2-5 yo (3,4).However, children with DS typically respond better to treatment than those who do not have DS (4).See, a benefit to having an extra chromosome.
Heart Problems—40-60% (4) According to Dr. Holt, an AV canal and pulmonary hypotension are the most common.Fortunately our little trouper only has a PFO or a tiny little hole between the upper two chambers of the heart.Remember, it will most likely close on its own but if not, she cannot go deep sea scuba diving or fly fighter jets. Hum. Heart problems requiring surgery is what often causes a more severe developmental delay in these children because they spend their early months working so hard to stay alive rather than developing muscle tone.You cannot exactly do tummy time while sedated and on a breathing machine.
Alzheimer’s Disease—Okay I do not know the percentage but it typically sets in between 35-50 years of age (4).
Epilepsy or Seizures—5-10% (4)Children with DS typically respond better to the medications than children without DS (4).
Atlantoaxial Instability—15% (2, 4). This is where there is increase flexibility of the 1st two vertebrae of the neck.A problem arises if the spinal cord becomes pinched between these two vertebrae thus causing walking problems, gagging, and pain.Ellie with get neck X-rays around the time she starts walking which is most likely around the age of 2 or 3 (1,2,3,4).
Now again, this list is extremely scary and overwhelming.I about cried, okay I did cry, but then I took a step back.Ellie is a healthy, thriving little baby.We just need to be aware, but not panicked over these potential issues she could develop.My Aunt didn’t/doesn’t have most of these.Many of my patients might have just needed glasses or some assistance with speech and feeding.Even without DS, our daughter could develop any of these issues.Well, you know me, I still obsess and worry.
Expectations: You can never shoot too high.Today, many people with DS are holding down jobs, attending some college, living independently.It is all dependent on the individual.The key is to treat Ellie like any other child.Offer her every opportunity so that she can discover what she likes, doesn’t like, and what she excels at.Ellie just might surprise us.
References:
1. National Down Syndrome Society. (unknown date). “Down Syndrome”. p. 1-16.
2 American Academy of Pediatrics Committee on Genetics.(2001).“ Health Supervision for Children With Down Syndrome”. Pediatrics 17 (2) p 442-449
3. Dr. Ladonna Immken verbal consultation November 11, 2009
4. Skallerup, Susan J. (2008). “Babies with Down Syndrome: A New Parents’ Guide” 3rd Edition. Woodbine House: Bethesda, MD
Yes, I know it is long and sort of reads like a research paper :oP
Okay, it is time for another one of my more serious posts.Part One is about Down Syndrome in general, the history, & types of DS and I hope that you take the time to read this very long post. (Tomorrow will include Part 2: common medical conditions, developmental milestones, and expectations).
Disclaimer: The information was given to Andrew and me at our genetics appointment.Some of the information I already knew and others I did not.Please remember that these are just numbers and risks.Yes, some of these things freaked me out, but I just need to remember that Ellie Bear is not a number or a percentage but is a strong, brilliant baby who is already amazed us in so many ways.She is a super star as are other children with special needs.
The photo located on here show a Trisomy 21 karotype and is courtesy of the NDSS.You will need to click on the image to enlarge it.
General:
Down Syndrome is the most frequently occurring chromosomal abnormality—approximately 1 in 800 LIVE births (1).Unfortunately many fetuses are aborted when it is discovered that they have DS so it may actually occur even more frequently.More than 350,000 people in the USA have DS (1).
History:
So DS has been around for a very long time, but as with anything it took awhile for someone to actually get the news out there. Then of course they assigned their own name to the syndrome thus making them famous. Such was the case with Dr. John Langdon Down of England in 1866.Apparently he was the first person to recognize and accurately describe all of the symptoms. However centuries ago, there were pieces of artwok that depicted people with "Downs facies". I have not see these pieces of art but they apparently exist. My art major friends, where are you?
It wasn’t until 1959 when Dr. Jerome Lejeune (do not ask me to pronounce that) said that DS is a chromosomal condition consisting of 47 chromosomes instead of the typical 46.Andrew likes to think that Ellie was going for extra credit in utero.Our Bear-Bear is an over-achiever in training!
Ever hear of the Human Genome Project?Well that has caused a great many advances in health care.In 2000, a large team of extremely smart scientists identified over 300 genes located on the 21st chromosome.This includes genes for Alzheimers, leukemia, blood disorders, and other things that I never even learned about in NP school.Imagine having an extra chromosome with these genes on it.That would explain why Ellie and others might have a higher chance of developing some of these illnesses such as Alzheimer’s.
Testing:
Okay, I know this is what everyone really wants to know since it has been asked of me by so many people.Did I get prenatal testing?
My answer is sort of.
I did not get the blood test aka quad screen done.Most insurance companies do not cover it and it is not really accurate in my opinion.Plus, even if it showed a problem what would Andrew and I do?Nothing. Well actually I would worry and worry and worry some more.I did however have a 14 wk and 19 wk ultrasound.Everything was completely normal—even the nuchal fold which can be indicative of DS, Trisomy 18, and one other trisomy condition which I cannot remember right now.
“It is important to note that screening tests are of limited value” (1, p. 9)
The blood testing is often done in conjunction with an ultrasound. Remember I had the ultrasound.The quad screen has high percentages of false positives at 8% (just think of all the poor babies that were aborted who were actually normal and those who were with DS. Ellie Bear!) and false negatives at 40% (think of all of the stress it causes the parents throughout the pregnancy).The quad screen detects about 60-65% of all incidences of DS (1).
Types of DS:
1.Mosaicism.This is where some of the cells have 46 chromosomes while others have 47 chromosomes with the 47th being#21.This is thought to be genetic and makes up on 1-2 % of DS cases.
2. Translocation is where part of the 21st chromosome breaks off and attaches itself to another chromosome.
3. Trisomy 21.This makes up 95% of DS cases.This is actually the one that I am going to focus on.This is where every cell has 47 chromosomes with the extra being #21.
Dr. Immeken was adamant that this was no one’s fault.This was something that I really needed to hear. Trisomy 21 occurs at conception (3).While most of the time it is the egg that might contribute the extra chromosome, it can be the sperm (3).I like to think that Ellie is 51% me and 49% Andrew.That being said, when she is naughty, I might claim she is more Andrew than me. . .
References:
1. National Down Syndrome Society. (unknown date). “Down Syndrome”. p. 1-16.
2 American Academy of Pediatrics Committee on Genetics.(2001).“ Health Supervision for Children With Down Syndrome”. Pediatrics 17 (2) p 442-449
3. Dr. Ladonna Immken. (Dell Children's Hospital). Personal Communication November 11, 2009
