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. ♥

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. ♥

The 13th-15th Days

Shared from Hope for Trisomy on Facebook. Please visit our page for links to photos, stories, and more!

Day 13:

On our 13th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about 1 of the 3 MOST COMMON trisomies...TRISOMY 13 (PATAU SYNDROME), with Trisomy 18 (Edwards syndrome) and Trisomy 21 (Down syndrome) being the other two. Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has three copies of genetic material from chromosome 13, instead of the usual two copies. Rarely, the extra material may be attached to another chromosome (translocation).http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/And...here is a link provided by the SOFT Organization about TRISOMY 13 FACTS.http://trisomy.org.s113588.gridserver.com/wp-content/uploads/2012/10/Trisomy-13-Facts-8-20-12.pdf Also, for the families caring for a child diagnosed with Trisomy 13, the SOFT Organization has a book provided at this linkhttp://trisomy.org/shop/care-of-the-infant-and-child-with-trisomy-18-or-trisomy-13/ and a guidebook provided at this linkhttp://trisomy.org/shop/trisomy-13-a-guidebook-for-families/Share because you Care ♥

Day 14:

On our 14th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about TELOMERES. Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes. They protect the ends of chromosomes in a manner similar to the way the tips of shoelaces keep them from unraveling. In many types of cells, telomeres lose a bit of their DNA every time a cell divides. Eventually, when all of the telomere DNA is gone, the cell cannot replicate and dies. White blood cells and other cell types with the capacity to divide very frequently have a special enzyme that prevents their chromosomes from losing their telomeres. Because they retain their telomeres, such cells generally live longer than other cells. Telomeres also play a role in cancer. The chromosomes of malignant cells usually do not lose their telomeres, helping to fuel the uncontrolled growth that makes cancer so devastating. Share because you Care. ♥

Gabby Arthurs, trisomy 14, took home the NC Miss Amazing Queen crown in Murphy, NC on 3/2/13 and is going to Nationals in Nebraska in August!

Day 15:

On our 15th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about TRIPLOIDY. Triploidy is a rare lethal chromosome abnormality caused by the presence of an entire extra set of chromosomes. A fetus with triploidy has 69 chromosomes, rather than 46. Most studies seem to suggest that around two thirds of triploid pregnancies are boys, while around one third are girls. Triploidy is not the same as Trisomy. People with trisomy have a single extra chromosome, making a total of 47. Very occasionally, babies with triploidy are born and live for a few hours, days or weeks. One baby reported in the medical literature lived to 10½ months, but this is very rare. Two out of three pregnancies miscarry in the first trimester and almost all other babies die later or are stillborn. UNIQUE has a great explanation of TRIPLOIDY found here (http://www.rarechromo.org/information/other/triploidy%20ftnw.pdf ) Hope for Trisomy featured a beautiful baby boy, Castan, diagnosed with Mosaic Triploidy on our photo album TRI-KIDS. Castan lived on earth almost 8 months, and was a blessing to his family. Here is Castan's facebook pagehttps://www.facebook.com/BelieveInCastan Share because you Care. ♥

Castan had Mosaic Triploidy and lived an amazing 8 1/2 months.

On the 12th Day of Trisomy Awareness...Structural Abnormalities!

DAY 12: 

On our 12th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share in more detail about STRUCTURAL ABNORMALITIES. This means that the chromosome's structure is altered, and this can come in several forms such as deletions, duplications, translocations, inversions, insertions, and rings. 

• DELETION is when a portion of the chromosome is missing or deleted. Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. Jacobsen syndrome is also called the terminal 11q deletion disorder. 
• DUPLICATION is when a portion of the chromosome is duplicated, resulting in extra genetic material. Known human disorders include Charcot-Marie-Tooth disease type 1A which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. 
• TRANSLOCATION is when a portion of one chromosome is transferred to another chromosome. There are two main types of translocations; Reciprocal translocation is when segments from two different chromosomes have been exchanged, and Robertsonian translocation is when an entire chromosome has attached to another at the centromere - in humans these only occur with chromosome 13, 14, 15, 21 and 22. 
• INVERSION is when a portion of the chromosome has broken off, turned upside down and reattached, therefore the genetic material is inverted. 
• INSERTION is when a portion of one chromosome has been deleted from its normal place and inserted into another chromosome. 
• RING is when a portion of a chromosome has broken off and formed a circle or ring. This can happen with or without loss of genetic material. 

The sample picture attached shows an example of how these structural abnormalities compare to the normal. Share because you Care ♥

Visit Hope for Trisomy on Facebook for more interesting facts about chromosomes and trisomy!

Chromosome Craziness - Centromeres, Structural & Numerical Abnormalities

Be sure to follow Hope for Trisomy on Facebook to get a fun fact all through the month! We are always posting stories, news link, uplifting thoughts... So you'll want to come "like" us!

DAY 8:

On our 8th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share why the CENTROMERE is so important in the structure of a chromosome. The centromere divides the chromosome into the short and long arms. The centromere is usually not located exactly in the center of the chromosome, and in some cases, is located almost at the chromosome's end. The centromere is important particularly during mitosis (which is the process where a single cell divides resulting in generally two identical cells, each containing the same number of chromosomes and genetic content as that of the original cell). When the centromere is not functioning properly, the chromatids do not align and separate properly, thus, resulting in the wrong number of chromosomes in the daughter cells. This is when we see conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13). Share because you Care. ♥

DAY 9:

On our 9th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share some history about chromosomes. Did you know that before the chromosomes could be precisely identified they were placed in seven groups? A (chromosomes 1–3), B (chromosomes 4–5), C (chromosomes 6–12 and X), D (chromosomes 13–15), E (chromosomes 16–18), F (chromosomes 19–20), and G (chromosomes 21–22 and Y) ♥ Share because you Care

DAY 10:

On our 10th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about chromosome abnormalities. Although there are many types of chromosome abnormalities, they can be organized into two basic groups; NUMERICAL and STRUCTURAL ABNORMALITIES. A NUMERICAL ABNORMALITY is when an individual is missing either a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (trisomy). An example of a condition caused by numerical abnormalities is Down Syndrome, also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21, rather than two). Turner Syndrome is an example of monosomy, where the individual - in this case a female - is born with only one sex chromosome, an X. A STRUCTURAL ABNORMALITY is when the chromosome's structure is altered, such as in deletions, duplications, translocations, inversions, and rings. Most chromosome abnormalities occur as an accident in the egg or sperm. Therefore, the abnormality is present in every cell of the body. Some abnormalities, however, can happen after conception, resulting in mosaicism, where some cells have the abnormality and some do not. Share because you Care. ♥

DAY 11:

On our 11th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little bit more about NUMERICAL ABNORMALITIES. A numerical abnormality is also referred to as an ANEUPLOIDY (an abnormal number of chromosomes). The 4 common categories of aneuploidy are; Nullisomy, Monosomy, Trisomy, and Tetrasomy. NULLISOMY is when a chromosome is missing altogether. Generally, embryos that are nullisomic don't survive to be born. MONOSOMY is when an individual is missing a chromosome from a pair. TRISOMY is when one extra copy of a chromosome is present. TETRASOMY is when four total copies of a chromosome are present. Tetrasomy is extremely rare. Chromosomal abnormalities, in the form of aneuploidy, are very common among humans. Roughly 8 percent of all conceptions are aneuploid, and it's estimated that up to half of all miscarriages are due to some form of chromosome disorder. Share because you Care. ♥

Trisomy Tea - Raising Awareness One Cup at a Time

Trisomy Tea

A very special friend, Cindy Chamberlin, is running a very simple fundraiser that I would encourage everyone to consider joining, and it will only cost you $5!  Here is her message:

Well I can’t WAIT any more! March is Trisomy Awareness Month. In honor of our daughter, Jordan Elizabeth Chamberlin, I will be having a fund raiser to support Hope for Trisomy, Now I Lay Me Down to Sleep, and our local families that have experienced a loss by selling “Tea Cups”.
Each Tea Cup is $5.00 (see picture below) and includes a special bag of tea. They can be mailed within the US for an additional 46 cents (and of course can be picked up/dropped off locally). Message me if you live out of the US and we can work something out!!!!
Because Jordan had Trisomy 18; $3.18 of each cup sold will go to Hope for Trisomy, $1.00 to NILMDTS, and the rest to stay locally in the hopes of having a larger ceremony on October 15 (National Pregnancy and Infant Loss Day). I can accept cash, check, and paypal. Let me know if you have any questions. My goal is to sell at least 200! I’m so excited to raise awareness and continue to celebrate what Jordan means to us!!! Thank you for your help and support!Each Tea Cup is $5.00 (see picture below) and includes a special bag of tea. They can be mailed within the US for an additional 46 cents (and of course can be picked up/dropped off locally). Message me if you live out of the US and we can work something out!!!!Because Jordan had Trisomy 18; $3.18 of each cup sold will go to Hope for Trisomy, $1.00 to NILMDTS, and the rest to stay locally in the hopes of having a larger ceremony on October 15 (National Pregnancy and Infant Loss Day). I can accept cash, check, and paypal. Let me know if you have any questions. My goal is to sell at least 200! I’m so excited to raise awareness and continue to celebrate what Jordan means to us!!! Thank you for your help and support!

This is what the Trisomy Tea awareness "tea cup" looks like. To order a tea cup, please send a donation (or order request to receive a pre-order invoice) of $5.46 for each cup to the following paypal account: cynster@suddenlink.net. Provide your total tea cup order and your mailing address. $3.18 goes to Hope for Trisomy, $1 to NILMDTS, $.82 to a local WV effort for National Pregnancy and Infant Loss Day on 10/15, and $.46 for shipping costs.  Thank you for your support! 

This is Jordan's Gemma's Bear from Hope for Trisomy. Your donation to Trisomy Tea helps us fund Hope for Trisomy's Gemma and Payton bear gifts to families facing a trisomy diagnosis or a milestone birthday. We receive heart-warming comments from families that receive our bears. For more information about the bear programs, please see hopefortrisomy.org.

Cindy and her beautiful Jordan.

Getting Down With Chromosomes

Day 4 Share: 

On our 4th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share an interesting FACT about chromosomes. We all have learned that Trisomy is a chromosome disorder, but does everyone know what a chromosome is? A chromosome is a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order. Each chromosome carries genes that contain the hereditary material that controls the growth and characteristics of the body. There are 46 chromosomes in each human cell organized in 23 pairs, of which 22 pairs are similar in appearance but differ at the molecular level. Here is the interesting fact; the chromosomes are designated by a number beginning with chromosome 1 being the longest, followed by chromosome 2, etc. So as the numbers get higher, the chromosome gets smaller as you can see in the sample picture. Share because you Care. ♥

Day 5 Share: 

On our 5th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about chromosomes. Did you know that a chromosome has ARMS? Well...it does. All human chromosomes have 2 arms -- a short arm and a long arm -- that are separated from each other only by the centromere, the point at which the chromosome is attached to the spindle during cell division. The short arm is termed the "p arm" while the long arm of the chromosome is termed the "q arm." The symbol "p" was chosen to designate the short arm because "p" stands for "petit", "small" in French. The letter "q" was selected to signify the long arm merely because "q" is the next letter in the alphabet. Share because you Care. ♥

Trisomy Awareness - SHARE because you CARE!

The following tidbits of information for Trisomy Awareness month are brought to you by a passionate trisomy mom and friend, Alisha, who is part of the Hope for Trisomy organization. Visit our Facebook page to keep up with a month of facts, fun and inspiration!

This is Alisha with her full trisomy 18 son, Lane, who is 4 years old.

3/1/13: Today is the beginning of a very special month for us! Why you ask? It's the 3rd month of the year and so we celebrate MARCH as TRISOMY AWARENESS MONTH...with "tri" defined as, in intervals of 3. We will be bringing awareness to TRISOMY because awareness is the first step to education, and we will be educating by starting with the basics. When a child is born with a 3rd copy of a chromosome, then they have been born with a TRISOMY syndrome. When we are born, we all receive 23 chromosomes from each of our parents totaling 46 chromosomes. Your father's DNA decides what sex you will be on the 23rd chromosome he has given you. A TRISOMY syndrome can be made on any of the 23 chromosomes present in the body, which will then make the genetic makeup total 47 chromosomes. ♥  (I posted Day 1 on my last post, but I didn't want it to get lost. ;-)

3/2/13: On our 2nd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to learn who is more likely to become pregnant with a child diagnosed with Trisomy. Can you guess? Well...the answer is, any female who can become pregnant! Trisomy DOES NOT discriminate! Trisomy doesn't care what age you are (although there is a higher risk in women older than 40), what ethnic group, what demographic location, or how much money you make! Trisomy can happen to you, a family member, or a friend! Please help us in bringing awareness to the WORLD. SHARE because you CARE. ♥

3/3/13: On our 3rd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share the 3 different types of TRISOMY. The 3 different types being FULL, MOSAIC, and PARTIAL. The most common type is FULL Trisomy, and this means the extra chromosome occurs in every cell of the body. This type of Trisomy is not hereditary. MOSAIC Trisomy occurs when the extra chromosome is present in some (but not all) of the cells of the body. Like Full Trisomy, Mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division. PARTIAL Trisomy occurs when only "part" of an extra chromosome is present. Some Partial Trisomy syndromes may be caused by hereditary factors. It is important to note...while there are different types of Trisomy, this does not mean one is better for a child than another. With each type, there is a wide spectrum of severity. It is hard to say how the extra chromosome will impact an individual child from the genetic diagnosis alone. Share because you Care. ♥

Check out these Inspirational Trisomy Kids Stories brought to you by Hope for Trisomy.

Broken Femur!

Rebekah has been doing great physically and we had her doing sit to stand with support and standing against a couch with minimal support. My dreams of her walking one day are getting closer and closer!  We've been coordinating with her therapists to maximize efforts to train her body towards this goal - weight shifting, stomping one foot at a time, and learning to use both sides independently. Things were looking good until...

Rebekah with a broken femur, in a half-spica cast (over one leg only and around the hips).

We never thought Rebekah had an issue with her bones! Yet here we are with a broken femur derived from her daily regiment of calf and hamstring stretches. And having a broken femur is not taken lightly. Her break, which occurred about 1/4 of the way from the top of the femur (at groin level), was considered a "trauma fracture". The immediate response is to look for child abuse, so they ordered a bone scan and a vitamin D test to determine if Rebekah has any signs of previous breaks. There were none, of course.  Even a forensic radiologist/pediatrician was called in to look at the "evidence".  The final report was "hypodense and gracile bones" and that it was very probable that this break did occur as reported.

Here is some information about osteoporosis and general statistics.  And here is a good reminder for anyone taking medications, especially our kids whose chromosomal abnormalities often exacerbate the potential side effects of those meds: Don't Take That Drug Without the Right Supplement.

I kept asking the doctors about a bone density test (BMD - Bone Mineral Denisty), but they did not do one because they said the numbers are not accurate for pediatric patients. Bone density tests are special x-rays that measure calcium and minerals.  The most commonly used BMD test is called a DEXA scan. The BMD is reported in terms of a T-score. A normal T-score is anything better than -1, osteopenia starts with a T-score of -1, and osteoporosis starts at -2.5. However, these numbers refer to adults, and there aren't really comparable numbers for toddlers.  According to a conversation with Dr. John C. Carey (Professor, Geneticist, Author of hundreds of medical papers, Medical Advisor for SOFT - Support Organization for Trisomy 18, 13, and Related Disorders, and a great friend/advocate to the trisomy community!), many trisomy 18 kids have been reported to have BMD  T-scores of -3.


So I kept digging for more information. Commonly listed characteristics or health problems of trisomy 18 children include reflux, weak muscle tone, heart defects, kidney defects, neurological issues, among many other things. Even if health is great, diet is great, and bones appear to be developing normally, children who are nonambulatory have weaker bones and lower tone than typical kids. Also, what the lists don't tell you is that there are additional risks associated with the treatment of these health issues. Many of the medications given to address these health issues can affect other parts of the body.  For example, throw in proton pump inhibitor meds for reflux, and guess what... you have a potential recipe for brittle bones!  (In 2011 & 2012, the FDA issues some warnings regarding PPIs and the potential for bone fractures and breaks.) I did not really connect the dots to any of this until we experienced a broken femur and started researching different reasons why trisomy kids' bones seem to break easily.

• http://www.fda.gov/Safety/MedWatch/SafetyInformation/SafetyAlertsforHumanMedicalProducts/ucm213321.htm
• http://www.fda.gov/Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/ucm213206.htm
• http://www.aafp.org/online/en/home/publications/news/news-now/clinical-care-research/20100601ppifracture.html

A few days after Rebekah was casted, I spoke with our nursing agency's nurse supervisor about Rebekah's care in the spica cast. She reminded me about changing positions every 2 hours. I remembered reading that in the pamphlet, and figured it was to prevent sores, issues with pressure points, etc. She said to make sure some of those positions are sitting up as best as we can do (which is very difficult since they casted her leg with two angles - one at the hip and one at the knee. Best we can do is about a 45 degree sitting angle.)  Anyway, she told me the positioning change is to PREVENT PNEUMONIA. I didn't realize that. She suggested CPT too. Well, got me thinking... so many of our little ones are prone to pneumonia. I wonder if it is partially because they are lying down too much and not getting moved into different positions? Plus, maybe every little one should get CPT as just general care early on?  

Anyway, I see trends and correlations between all these things! I hope passing along this info helps other families as they face different health issues and risks associated with trisomy 18.