An Unexpected Casting Visit

We made an unexpected trip to Shriner's hospital today. Yesterday we noticed Rebekah's casts were so loose in the thighs that we could fit our entire hand into into and down to her knee! Her left foot had actually shifted quite a bit and the right foot was in danger of the same thing. 

The doctor decided to remove the old casts and recast her in the long leg casts for the last 2 1/2 weeks until she is scheduled for the pin removal. Rebekah managed like a champ and wasn't in any pain or discomfort. Her new casts should stay secure the last few weeks. Best thing - her feet looked really good! Although we have 2 1/2 more weeks in long casts then a few weeks in short casts, Rebekah should be able to wear shoes and have then stay on her feet! Can't wait until the casts are completely off and we can bathe her poor dry, scalely legs and wear some cute shoes!

Pre-surgery feet. I don't have a very good photo of her rocker bottom heels, but you can see them to some extent here. Shoes always would fall off her feet and the right one turns off to the right also. 

Getting the casts cut off.

You can see how far back Rebekah's toes are. The cast was beginning to slide off. 

Here are the 2 pins still in Rebekah's right foot. You can see the much better alignment of the heel.

Another view from the outside of the right foot.

Left foot looks great!

New casts for 2 1/2 weeks, then we take them off again to remove the pins. 

 

 

Team Budd Zoo

Please consider supporting Team Budd Zoo in our efforts to raise money for SOFT (Support Organization for Trisomy 18, 13 and Related Disorders) through their Stroll for Hope event. 

We will be "strolling" in the 3rd Annual Stroll for Hope on Thu, July 18th at this year's SOFT conference in Providence, RI.  Funds raised go towards helping SOFT provide its resources and services to many families.  You can view some of those resources on their website: http://www.trisomy.org. SOFT is a 501(c)(3) that has been supporting the trisomy community since 1980! No donation is too small!

==> DONATE HERE <==  

Donating through the firstgiving.com website is simple, fast and totally secure. It is also the most efficient way to support my fundraising efforts.

Many thanks for your support -- and don't forget to forward this to anyone who you think might want to donate too!

THANK YOU from Team Budd Zoo!

Team Budd Zoo - 2011 Stroll for Hope - Chicago, IL

Team Budd Zoo - 2012 Stroll for Hope - St. Louis, IL

Some of the 2012 trisomy stroll participants

Foot Surgery - Finally!

Some of you may recall that we have been trying to pursue foot surgery for Rebekah for some time. In fact, we were all set to travel back and forth to St. Louis last fall to have her feet casted and corrected for rocker bottom feet/vertical talus. However. Rebekah got a bowel obstruction last September and spent 2 weeks in the hospital. Although it resolved itself, we have been leery to travel so far for orthopedic services since she is likely to have another repeat bowel obstruction at some point.

Rebekah's right foot bends outwards to the right. The toe bones all bend to the right. Her toes on both feet look small because they are all webbed from the first joint. Her feet are more than "flat", they are actually convex from an anomaly related to Trisomy 18 called Rocker Bottom feet. 

Another look at her feet from the bottom. you can see the outward curve of the right foot and the bony protrusion on the inside of that right foot. This is due to her talus bone in the foot appearing vertical and diagonal.

Given Rebekah's genetic diagnosis, we have met many obstacles (doctors and support from others) in seeking to fix Rebekah's feet. In fact, there are many people who believe we would just be subjecting our child to unnecessary and senseless surgery and "pain and suffering" because we cannot "fix" trisomy and "everyone knows" she cannot (and will not ever) walk.

You can see the prominence of the heel bone being pulled up. This is the sign of "rocker bottom feet" and results in her heel sticking way out. Shoes do not fit this girl! You can also see the convex action of the foot where it should be concave into an arch. This foot defect causes her weight to be distributed on the inside front right of her foot during weight bearing - a balancing act at best to maintain a standing position, let alone walk.

A shot of Rebekah's bones from the top of her foot. you can see how her right toe bones all curve outwards to the right. This anomaly will NOT be corrected with her surgery as this is bone work. If and when we address this, Rebekah will be much older.

Well, Rebekah didn't read those textbooks and we claim victory over the effects of trisomy in her life. We believe she WILL walk one day, but her feet need to be fixed in order to help her reach this goal. And, while surgery of this nature would be "elective" in that it is not necessary for her health, her foot anomalies create feet that cannot be properly balanced on for walking. Anyone WITHOUT TRISOMY would not be able to walk independently on them. So we choose HOPE and FAITH and will give her every chance to overcome the effects of Trisomy on her body.

Rebekah bright and early at Shriner's waiting for check in.

On Tuesday, May 14, at 6am, Rebekah checked into the Shriner's Children's Hospital in Greenville, SC for surgery on both of her feet. Rebekah was born with "rocker bottom" feet and has some bone anomalies caused by tight tendons and mis-angled bone. This is how the procedure was described: The surgery consists of releasing the heel cord tendon to drop the back of the foot bone down, allowing the foot to be more flat. He right foot will also have the outside tendon released so that it will not pull the foot outwards. A pin will be placed through soft tissue to try to hold some of the mis-angled bones into better alignment. Both feet will be casted up to her thigh for 6 weeks. Then the casts will be removed, the pin taken out, and her foot molded for AFOs (ankle-foot orthodics). Then lower leg casts will be put on for another 3-4 weeks while the AFOs are being made. This is all soft tissue work and no bone work will be done (directly).

Once the surgery began, the doctor discovered that Rebekah's calf muscles on both legs actually extended all the way down to her feet as well, and they were released in addition to the Achilles tendon. On her right foot, two tendons on the outside had to be released (instead of just one) and two pins were placed into her foot (versus one) - one from the back and one from the front - through soft tissue to help hold the foot in proper position.  Her bones in the front of her foot all curve to the right and, unfortunately, none of this soft tissue surgery will correct that. But hopefully the more neutral position of her foot will correct the growth pattern.
 
The surgery was successful. Rebekah spent the night in the hospital and it took a few days to get her back to eating. I have to admit, watching her those few days I was really concerned that maybe we had made the wrong decision. She vomited and would not tolerate anything until we gave up on narcotic pain meds and went with just motrin or tylenol. As soon as we dropped the narcotics, she perked up and started acting like her old self!

Rebekah's pain response causes her whole body to go into a flushing mode. Look at how red her cheeks and arm is.  It was also on her chest and upper legs. 

A closer look at her vasodilation reaction to pain.

Her white casts were overwrapped post-surgery in the color of our choosing. I went with the bright tie-dye/camo colors to match the bright colors that were in all the stores for girl's clothes. :-)  Sitting on Rebekah's lap is a new Build-a-Bear (well, dog). Shriner's has a room with all kinds of build-a-bears and each child after a surgery is allowed to pick out a bear and outfit/accessories. Ours has a princess crown and wand and silver shoes. She has a princess t-shirt on. There weren't any really cute princess dressed that didn't clash with the pink on the poodle.

The casts add a LOT of weight and we are supposed to maintain her feet in an elevated position where the heels do not touch anything in order to minimize pressure sores. Well, let's just say after about a week in the casts, Rebekah got tired of lying in the same position and unable to move. So three weeks into the 6 week full leg cast, she is easily lifting those heavy casts and flinging them all around. She has figured out how to finagle her body back and forth and move across the floor. She is delighting in brutal leg whacks against her family's extremities, and all of us have at least one black and blue mark to show for it!  This girl has to have abs of steel by now!

Please continue to pray with us that her surgery will make a difference on her balance and potential for walking, for the overall success of the surgery once the casts all come off, and for what the future holds for our baby girl.

Rebekah rockin' her multi-colored tie dye/camo casts as she leans into Daddy for some snuggling time.

Make Change Through Grace

“God appoints our graces to be nurses to other men's weaknesses.” -Henry Ward Beecher

If we only surround ourselves with like-minded people, we will never change the world. Or, worse yet, we may never change for the better.  Because, let's face it, we can ALL do something to become better people.

When I was pregnant with Rebekah, I stuck with an ob/gyn who was rude to my husband and I and refused to agree to our plan of an emergency c-section should Rebekah have difficulty during delivery. There were many issues, but he even said at one point, "I didn't go through all those years of school and my practice to deal with THIS." ('this' was my baby girl who he expected to die and this situation that he perceived as a hopeless waste of time.) 

Why did we stick with him? For practical reasons, I was close to full term and we didn't have a lot of options. But the real reason is because I knew that, despite his words, he wouldn't have a choice but to help us when it came time for delivery. I also felt in my heart that we just needed to be there and show our faith and strength to him. 

Well Rebekah surprised everyone!  When he came to visit us in the hospital a few days after her birth, he looked at Rebekah and said, "You made the right choice." He also told me that if he had another trisomy 18 pregnancy, he will manage it differently. That made it all worth it!  And it wasn't the point that Rebekah lived, because we were still very much in a questionable place. It was that we celebrated every moment and, despite planning a funeral and dealing with grieving a lost dream of a "normal" daughter, we were hopeful and loving and forgiving and full of grace.

Had we stormed off and changed our plan, or worse yet been ugly and rude, then this doctor's heart would never would have changed.  

Because of his change, I can face disapproving or negative medical staff (or people in general) and give them the benefit of the doubt. Sometimes, I find my view is changed along the way too, and that they really did have my daughter's best interest at heart.

How many people are in the world that have bad attitudes and erroneous views? And maybe all they need is a little grace and forgiveness?  And maybe that grace can result in a changed heart? And on the flip side, sometimes listening to opinions and views that differ from our can feed our own passions to do good in the world or remind us that maybe we need to change something about ourselves.

This journey is a tough one. We need to be gentle and forgiving to one another. 

“The burden of life is from ourselves, its lightness from the grace of Christ and the love of God.” -William Bernard Ullanthorne (1806-1889)

Happy 1461 Days of Trisomy 18 Miracles!

Happy 4th birthday to our little miracle girl! In case you are checking your math, it's 1461 days because she lived through 1 leap year! ;-)

Exactly 4 years today, Rebekah Faith Budd was born into this world with Full Trisomy 18. She was never expected to make it to birth, let alone be here 4 glorious years! In fact, we actually had her funeral planned before she was even born. Then she went home on hospice as everyone waited for her to just die.  But, oh, how we like God's plan so much better than the one that we had!

A friend commented to me today that she remembers visiting us in the hospital when our sweet baby was born. She had to leave to get ready for her own daughter's princess birthday party. I told her, "I hope one day my little girl can have a princess party." And she told us that one day she will.  This memory brought tears to my eyes. And we did, her first birthday party was a princess party.

Words cannot explain how awesome it is to celebrate this miraculous 4th birthday... in fact, we've had 1461 miraculous days of  full trisomy 18 living!   God is good!

Here is a look back through time. How she has changed!

Rebekah's Birthday Day - March 21, 2009. She was 4 lb  6 oz.

From the beginning we were surrounded with other trisomy 18 miracles! Here are her local friends: Dawson and Kaylen.

Celebrating Rebekah's 1st birthday along with 3 other trisomy 18 friends! Dawson and Kaylen are in the front row and Natalie is in the back row. 

This is Rebekah around her 2nd birthday. How she loves her family!

Rebekah's 3rd birthday brought more joys.

Rebekah celebrated her 3rd birthday with several more trisomy friends! Here she is with her TFFs. Joey and Lily are about Rebekah's age, and Kaylen is about 12!

Uniparental Disomy and Karotypes

Day 29: Uniparental Disomy

On our 29th day of MARCHING into TRISOMY AWARENESS we are going to share a little bit about UNIPARENTAL DISOMY. Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent or isodisomy, in which a single chromosome from one parent is duplicated. Because it may lead to the duplication of lethal recessive genes, isodisomy is potentially dangerous, while heterodisomy is essentially benign. This can also be the result of a TRISOMY CELL RESCUE (also known as trisomy rescue or trisomy zygote rescue) a genetic phenomenon in which a fertilized ovum containing three copies of a chromosome loses one of these chromosomes to form a normal, diploid chromosome complement. If both of the retained chromosomes came from the same parent, then uniparental disomy results. Share because you care...we did ♥

Day 30: Karotypes

On our 30th day of MARCHING into TRISOMY AWARENESS we are going to share a little bit about KAROTYPES A karyotype (Greek karyon = kernel, seed or nucleus) is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism. Karyotypes describe the number of chromosomes, and what they look like under a light microscope. Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics.The preparation and study of karyotypes is part of cytogenetics. The study of whole sets of chromosomes is sometimes known as karyology. The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram or idiogram: in pairs, ordered by size and position of centromere for chromosomes of the same size.The study of karyotypes is important for cell biology and genetics, and the results may be used in evolutionary biology and medicine. Karyotypes can be used for many purposes; such as to study chromosomal aberrations, cellular function, taxonomic relationships, and to gather information about past evolutionary events. The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for females contain two X chromosomes and are denoted 46,XX; males have both an X and a Y chromosome denoted 46,XY. Any variation from the standard karyotype may lead to developmental abnormalities. Share because you care...WE DID ♥

Dicentric Chromosomes, Centromere Positioning, Autosomes & Allosomes

Still catching up! Days 26 - 28. See Hope for Trisomy for more educational posts!

Day 26: Dicentric Chromosome

On our 26th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about a STRUCTURAL ABNORMALITY that we have not mentioned before. A DICENTRIC CHROMOSOME is the result of a rearrangement that places two centromeres on the same chromosome. The interaction of radiation with these chromosomes causes the break and then it becomes unstable, which often involves a loss of some genetic material. The formation of a dicentric chromosome is highly specific to ionizing radiation and its frequency serves as a measure of radiation exposure received by a person. In the event of higher exposure to radiation, such breaks may occur in more than one chromosome. Share because you Care. ♥

Day 27: Metacentric, Submetacentric, Acrocentric, and Telocentric Centromere Positions

On our 27th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about four types of chromosomes based on the position of the centromere. The four types are Metacentric, Submetacentric, Acrocentric, and Telocentric. Metacentric is a type of chromosome having two equal arms because the centromere is in the median position. Submetacentric is a type of chromosome where the centromere is slightly away from the centre and therefore chromatids of one side are a little longer than the other side. Acrocentric is a type of chromosome where the centromere is located closer to one end and therefore the chromatids on the opposite side are very long. The small round structure is referred to as a satellite, and the thin strands at the satellite region are termed the Nucleolar Organiser Region. Telocentric is a type of chromosome where the centromere is placed at one end of the chromatid, hence only one arm. The telocentric chromosomes are not seen in human cells. Share because you Care. ♥

Day 28: Autosomes and Allosomes

On our 28th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the chromosome types that are divided into two categories, those being the AUTOSOMES and ALLOSOMES. AUTOSOMES are the structures that contain the hereditary information. They do not contain the information related to reproduction and sex determination. Autosomes are identical in both male and females. The human body contains 22 pairs of autosomes. An ALLOSOME is a sex chromosome that differs from an ordinary autosome in form, size, or behavior. The X chromosomes are present in the ovum and either the X or Y chromosome can be present in the sperm. If the offspring receives one X chromosome from the mother as well as father, it results in a female child (XX). If the offspring receives one X chromosome from the mother and one Y chromosome from the father, it results in a male child (XY). It is the donation of the X or Y chromosome by the father that determines the sex of the offspring. Since only males have a Y chromosome, then there must be a gene that makes the individual a male. Scientists have identified and isolated this gene and have termed it the SRY gene. Interestingly enough, this gene does not activate until 6 weeks after conception. Once activated, female structures are destroyed and the individual develops as a male. Share because you Care. ♥

Trisomy Awareness Month Catch Up Time! (Days 23-25) Insertion, Deletion, and Duplication

Illness hit our family - that wonderful stomach bug that lasts for days. And, unfortunately, I was the one having to take care of everyone! We survived just in time for our spring break week. But we went out of town and were without Internet or PC, so I couldn't continue the posts. So I am catching up! These excellent summaries are posted on our Hope for Trisomy Facebook page. Please become a fan!

Day 23: Insertion

On our 23rd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called an INSERTION. An insertion is when a portion of one chromosome has been deleted from its original place and inserted into another chromosome. Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA sequence to a section of one chromosome inserted into another.The insertion changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly. Insertions can be particularly hazardous if they occur in an exon, the amino acid coding region of a gene. It can possibly result in any number of genetic disorders depending on the gene in which the insertion occurs. Share because you Care. ♥

Day 24: Deletion

On our 24th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called DELETION. A deletion occurs when some genetic material is lost when a chromosome breaks. A deletion can occur on any chromosome, at any band, and can be any size (small, medium or large). How big a piece is missing and what genes are missing in the section will depend on what the deletion causes. Small deletions are less likely to be fatal. Medium-sized deletions can lead to disorders like Williams syndrome. Large deletions are usually fatal, and there are always variations based on which genes are lost. Deletions are responsible for an array of genetic disorders, including some cases of male infertility and two thirds of the cases of Duchenne muscular dystrophy. When there is a deletion in part of the short arm of chromosome 5, this results in Cri du chat syndrome. A chromosome deletion causes many different disorders. There are also many different symptoms and severity of symptoms depending on which chromosome was deleted and how much. Here is an example of a chromosome finding; 46,XX,del(14)(q23)
This means...a female with 46 chromosomes with a deletion of chromosome 14 on the long arm (q) at band 23. Share because you Care. ♥

Day 25: Duplication

On our 25th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called DUPLICATION. A chromosome duplication is the doubling of a chromosome piece. A duplication can have the production of one or more copies of any piece of DNA, including sometimes a gene or even an entire chromosome. A duplication is sometimes referred as a 'partial trisomy'. This means the individual has three copies of that area instead of two. Therefore, there are extra instructions (genes) present that can cause an increased risk for birth defects or developmental problems. Charcot-Marie-Tooth disease type I is a disease related to a chromosomal duplication. Here is an example of a chromosome finding; 46,XY,dup(7)(q11.2q22) This means...a male with a duplication of chromosome 7 on the long arm (q) between bands 11.2 to 22. Share because you Care. ♥

Immune System Surprises and Vaccination Antibody Titers

Rebekah has been getting a ton of "colds" and ear infections since getting ear tubes last August. It's possible that she may be getting the same amount, but now that we see her ears draining, we pay more attention to her symptoms. But it feels like we are on an antibiotic at least once a month for an "ear infection". This is on top of her prophylactic antibiotics for UTIs.

Parts of the Immune System

The immune system is a complex, wonderous design!  There are blood tests that can measure your infection fighting proteins (called immunoglobulin) and whether you have an immune system deficiency. It's not uncommon for people with genetic disorders to have some issues resulting in medical fragility and possible immune system disorders. In fact, Rebekah's endocrinologist had ordered all kinds of tests back in November when she broke her femur. Among these were immune system blood studies (IgA, IgG, IgM), but nothing came back out of the ordinary.

Her ENT recently ordered immune tests again and included antibody titer testing for Pneumococcal and HiB, both which are common in causing reoccurring ear infections. Now Rebekah has received all of her immunizations (including all recommended doses for both), so her titer tests should show a number indicating she has antibodies to fight these. However, if the number is low, it means you might benefit from a booster immunization. Guess what?! They were low!

The pneumococcal vaccine covers different types of pneumococcal disease, such as pneumococcal pneumonia, bacteremia (can cause blood infections), meningitis, and otitis media (ear infections). Here is some additional information on this vaccine.
The Hib vaccine (Haemophilus influenzae type b) vaccine prevents illnesses such as meningitis, pneumonia, epiglottitis, bacteremia (blood infection), and cellulitis.  Additional information on Hib here.

Considering many of these (especially pneumonia) are common (and possibly deadly!) to trisomy kids, you can see my surprise and concern over our titer numbers being low! But now it gets confusing and we will most likely be making a consult with Infectious Disease to discuss our findings. You can google all kinds of info about titers and it might convince you that vaccines are useless anyway. And were this an issue for one of my other kids, I might not be so concerned. But having 5 kids, exposure to germs and viruses is a given. Obviously we do not want to expose Rebekah to diseases unknowingly and we do want to protect her. Her body cannot fight off illnesses like a typical person and we already know that. Having a child like Rebekah sometimes makes you go against your normal course of action because there is no book written on how to deal with these issues.

Here is an interesting article on Immune Deficiency that has this to to say:

"Normal immunoglobulin levels in a child who nonetheless doesn't respond appropriately to the vaccinations suggests that the immune system isn't functioning properly. ...
Your first symptoms are likely to be recurrent bacterial infections involving the ears, sinuses, nose, bronchi and lungs. If your infections are severe enough and recur often enough, you can permanently damage the bronchial tree. ... Bacteria (Hemophilus influenzae, pneumococci and staphylococci) that are wide-spread in the general population may cause pneumonia.... Not only do patients with common variable immunodeficiency have a depressed antibody response and low levels of antibody in their blood (hypogammaglobulinemia), but the antibodies that they produce may also attack some of their own tissues (autoantibodies). The autoantibodies may attack and destroy red blood cells, white blood cells or platelets, and may cause other disorders as well. Among the most common are gastrointestinal complaints, such as abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss."

So, when Rebekah gets her 4 year check up in a few weeks, we will be adding boosters of these two vaccines to her to do list, and we may request more antibody titer tests to figure out what to do next! The strange thing for us is that we didn't receive any red flags on her actual immune system checks. I don't recall it ever being suggested that tri kids get antibody titer testing done if they have repeat infections. So I wonder if this MAY indeed be an issue with many other kids, especially ones that have reoccurring pneumonias! And the surprise is that testing could show no basic immune issue but the titer testing could show ineffective vaccination!

Anyway, I wanted to share this finding because we already tested her immune system and hadn't found anything unusual. But this is just like her bones - Rebekah has normal blood levels of calcium, phosphorus, D, etc that go into bone development, but her trisomy is affecting her at a cellular level and disrupting proper bone construction. It appears that we have a similar issue in the immune system with everything appearing to be right (from a numbers standpoint), but not from a functional standpoint.

I think this would make for some interesting studies!! If anyone has more info on this or similar experiences, please share!

This is an overview of how how our immune system works. Though this post isn't about the mechanics of the immune system, I think this helps to visualize all the places something can "go wrong" in our immune system.

Isochromosomes, Inversions, and a little T21 on top

We're almost to the end of Trisomy Awareness Month and I want to continue sharing the Hope for Trisomy daily tidbits put together by my friend Alisha.

Day 20: Isochromosomes

On our 20th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about a rare structural abnormality, known as ISOCHROMOSOME. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. This constitutes a simultaneous duplication and deletion. Isochromosomes are often found in females with Turner syndrome and can be found in tumors. Share because you Care. ♥

Day 21: Down Syndrome Awareness

On our 21st day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the MOST COMMON TRISOMY. Trisomy 21 (Down syndrome) is when there are 3 copies of the chromosome 21, instead of the normal 2. The conditions associated with Down syndrome vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. Their head may be abnormally shaped and smaller, and the inner corner of the eyes rounded instead of pointed. All Down syndrome individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. This chromosome abnormality occurs in about 1 in 700 newborns. The mother's age is the only factor that has been shown to increase the risk, especially after the mother is 35 years of age. However, since younger women are more likely to have children, the percentage is higher in women younger than 35 years of age. It is important to remember that ALL individuals diagnosed with Down syndrome live happy, productive lives well into adulthood. Share because you Care. ♥

Day 22: Paracentric and Pericentric Inversions

On our 22nd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called an INVERSION. An inversion occurs when a chromosome breaks in two places. Then the resulting piece of DNA is reversed and re-inserted into the chromosome. There are 2 types of inversions which are called pericentric and paracentric. The inversion that involves the centromere is called pericentric, and paracentric is when the centromere is not involved. The most common inversion seen in humans in on chromosome 9. This inversion is usually considered harmless, but there are suspicions that it could lead to an increased risk for miscarriage or infertility. An inversion does not mean there is a loss of genetic information, it just simply rearranges it. Share because you Care. ♥