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. ♥

Days 16, 17, 18, 19 and a Bonus for Trisomy 18

Day 16 - Ring Chromosomes

On our 16th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about RING CHROMOSOMES. A ring chromosome is a chromosome in which both ends have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development. The issue is that genetic information is often moved or deleted when a ring chromosome forms, and as a result, the genes on that chromosome may not express properly. This can lead to health problems which range from congenital conditions to cancer. Ring chromosomes are very rare, and they have been found in nearly all human chromosomes. Some people have ring chromosomes in their bodies and remain unaware of it, while in other cases, a suspected ring chromosome may be identified shortly after birth. The diversity of the spectrum from profound developmental delays to a blissfully unaware existence illustrates the diversity of human genetics. Share because you Care. ♥

Day 17 - Karotypes and Microarrays

On our 17th day of MARCHING into TRISOMY AWARENESS MONTH, we first want to wish our supporters a HAPPY ST. PATRICK'S DAY! Hope for Trisomy would love for you to share a photo of your blessing in GREEN! We are also going to share a genetic analogy. The process can be a little confusing, so we are hoping this analogy will help. Our chromosomes are like a set of 46 encyclopedia books. A chromosome analysis or karyotype is able to determine if there are any missing or extra books (chromosomes). Our genes are like the sentences on each page of the set of encyclopedia books (chromosomes), and each page of each book contains a unique set of sentences (genes). Each page contains the sentences for approximately 10 to 30 genes. A DNA microarray analysis is able to open up each of the 46 encyclopedia books to determine if there are any missing or extra pages. Our DNA are like the letters that make up each sentence (gene) on each page of the books (chromosomes). Each sentence is made up of a very specific sequence of letters (DNA). Genetic sequencing is able read a specific sentence to determine if there are any spelling mistakes (genetic mutations) in the sentence (gene). Share because you Care. ♥

Day 18 - Trisomy 18

On our 18th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the 2nd most common Trisomy behind Trisomy 21 (Down syndrome). Trisomy 18 (also called Edwards syndrome) is a genetic disorder where there are 3 copies of the 18th chromosome instead of the normal 2, and because of the third copy...it affects the child both physically and mentally. Unfortunately, there is a high mortality rate amongst the babies born with this disorder because of how that extra copy affects the development of the body. However, each child is affected differently and there is a wide spectrum of severity amongst babies born with this disorder. Here is a link provided by the SOFT Organization about TRISOMY 18 FACTS. http://trisomy.org.s113588.gridserver.com/wp-content/uploads/2012/10/Trisomy-18-Facts-8-20-12.pdf Also, for the families caring for a child diagnosed with Trisomy 18, the SOFT Organization has a book provided at this link, http://trisomy.org/shop/care-of-the-infant-and-child-with-trisomy-18-or-trisomy-13/
and a guidebook provided at this link.http://trisomy.org/shop/trisomy-18-a-guidebook-for-families/ Share because you Care. ♥

Bonus T18 Share for the official Trisomy 18 Awareness Day!

One of the most notable things about trisomy 18 children are long and gorgeous eyelashes! Although eye problems are not one of the top concerns in a child with trisomy 18, we thought we'd share a photo example of their gorgeous eyes and share a list of some common Eye Features of Trisomy 18.

LONG EYELASHES - Although we can't find an actual publication that states this as a characteristic of trisomy 18, every T18 parent knows this! In fact, we like to joke that "the length of your eyelashes is directly proportional to the amount of 18th chromosomes you have." :-) That isn't really true, but there is definitely a correlation between long lashes and trisomy 18! All you have to do is look at just about any portrait of a T18 child.

WHORLED/ARCHED EYEBROWS - Commonly develop into a uni-brow too. http://www.ncbi.nlm.nih.gov/pubmed/22901740

COLOBOMA - A small keyhold in the iris or other area of the eye. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824/table/T2/

PHOTOPHOBIA - Extreme light sensitivity causing sneezing, closing of eyes, aversion to light, etc. http://www.ncbi.nlm.nih.gov/pubmed/23088440

Other eye anomalies can include blue sclerae, ptosis, microphthalmia, cataract, corneal opacities, strabismus.

If you look closely at this lovely T18 model's eyes, you can see somewhat tilted heart-shaped iris colobomas. ♥

Visit https://www.facebook.com/HopeForTrisomy13and18 for facts, fun, advocacy, hope, and more!

Please note - 
Unless your child has other health issues, developmental delays, and other symptoms of a genetic disorder, you should not have to worry if they have some of these eye conditions. All of these eye conditions can occur in genetically normal persons. However, the whorled eyebrows and long lashes are one common feature of trisomy 18 children that parents readily recognize. They do occur in some other genetic disorders as well. So we thought it would be interesting to point out some common eye features for those with trisomy 18 children that may not have realized are "normal" for trisomy 18.  So please do not worry if your child has long eyelashes and bushy eyebrows, it is most likely just hereditary! But for those already diagnosed with a genetic condition, it may simply be a "normal" trait of that condition.

Day 19 - Translocations

On our 19th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about TRANSLOCATION, which is a structural abnormality in reference to chromosomes. Translocation is used when the location of specific chromosome material changes. The two main types of translocations are reciprocal and Robertsonian. In a reciprocal translocation, two different chromosomes have exchanged segments with each other. In a Robertsonian translocation, an entire chromosome attaches to another at the centromere. Translocations can be balanced or unbalanced. The balanced translocation is a rearrangement of the genetic material without any gain or loss of DNA. An unbalanced translocation IS a gain or loss of DNA, so the cell has an abnormal amount of genetic material. Often times, unbalanced translocations result in a birth defect, stillbirth, or a spontaneous abortion. 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.

Misconception #1 - There is No Hope

Many people just don't believe the amount of discrimination and prejudgment that exists for children born with a medical label. When I explain that I personally know MANY families that have been denied medical, life-saving interventions for their trisomy child, I mostly get incredulous looks of disbelief.  And while we have never been outright denied intervention, it has certainly been discouraged and discussed along our journey. So I want to take part of TRISOMY AWARENESS MONTH just to do some educating about actual MISCONCEPTIONS that have affected us personally. I may throw in a few examples from friends along the way, but I am going to keep this mostly personal experiences so that no one can claim I am making things up. Our experience has been relatively good. So by the time you read through several posts of our personally-experienced misconceptions, maybe you will have a better idea of the big picture of what many families go through when trying to do their best for their trisomy child.

mis·con·cep·tion   [mis-kuhn-sep-shuhn]  (from dictionary.com)
a false or mistaken view, opinion, or attitude; a wrong idea, impression; false appearance, false belief; error, misunderstanding

Synonyms: deception, delusion, error, fallacy, false impression, fault, illusion, inaccuracy, misapplication, misapprehension, misconstruction, misjudgment, misinterpretation, mistake, mistaken belief, misunderstanding, myth, neglect, omission, underestimation
Antonyms: accuracy, certainty, comprehension, fact, perception, reality, truth, understanding

Misconception #1: There is No Hope for Trisomy

Rom 15:13 - I pray that God, the source of hope, will fill you completely with joy and peace because you trust in him. Then you will overflow with confident hope through the power of the Holy Spirit.

There is no denying it - the statistics are not good. 90-95% of trisomy 18/13 babies will not make it to birth. Most will miscarry in the first 2 trimesters from chromosomal-caused complications. Many will be aborted just because they are imperfect and have a label. However, up to 10% will make it to birth! That is a glimmer of hope right there! There are records of trisomy 18 and 13 children living into their 30's. Yes, this is rare, but POSSIBLE.  Many that do survive may need heart surgery or gastronomy tubes to thrive. And the medical evidence shows that children ARE surviving these interventions!  

Despite the trisomy type, chromosome condition, or medical label, my take on it is this - for the babies that make it to birth, they have already proven something! There IS HOPE. Why not give them a chance? 

We were given details about Rebekah having the following issues, probably around the time we got our amniocentesis results (~19 weeks). 

• choroid plexus cysts (cysts on the brain that are often markers of trisomy 18) & brain malformations - we would be at high risk for severe intellectual disability and seizures.
  => The cysts went away and the brain abnormalities are still there. We are praising God that at almost 4 years old, we still have no seizures and her brain MRIs have shown improvement in "white matter diffusion" issues and EEGs have shown improvement in synapse development and electrical activity.
• a large VSD (ventricular septal defect - a hole in the lower portion of the heart)
  => Rebekah's VSD closed on its own at about 30 weeks gestational age! 
• one kidney
  => Rebekah was born with TWO kidneys! One was just smaller than the other. However, at 1 year old during a routine (for trisomy 18 kids) abdominal ultrasound, it was discovered that the second kidney is actually full size, but it is a horseshoe kidney that wraps around her back and is connected to the "normal-looking" kidney. Turns out horseshoe kidneys are fairly common in trisomy 18 kids.
• clenched fists
  => Rebekah's hands were clenched, and even today when she is upset or stressed, she tightens them up. However, we have always been able to open her hands up and they are not "frozen" into position. 
• rocker-bottom feet
  => Rebekah does have rocker-bottom feet and, after 3 years of pushing for resolution, we are set to have surgery on her feet in May 2013!  We are confident that Rebekah will walk one day so we will do what we need to to give her the opportunity to achieve her milestones.
• 2-vessel cord - carries much higher risk than the typical 3 vessel cord
  => Despite the 2-vessel cord, my cord flow remained good through the pregnancy.
• very slow growth
  => Rebekah was born with a typical trisomy 18 birthweight - she was 4 lb 8 oz at 38 weeks when we were induced. She has gained weight well and followed a typical growth curve, even though she is at the bottom of it.
• low amniotic fluid - This can indicate kidney and urinary tract issues and genetic defects, increases risk of fetus injury, can affect proper bone growth, and increases the risk of miscarriage and stillbirth and increase labor complications like cord compression (which is a big concern when you already have a 2 cord vessel).
  => We had low amniotic fluid during most of the pregnancy. This is atypical - usually polyhydraminos (too much amniotic fluid) is more common. 

We started out with no hope for Rebekah. Online resources were very different a mere 4 years ago. What was available - stories of heartache, articles supporting nonintervention, videos of families saying goodbye too soon, and old genetics textbooks being used to give us out-of-date information and lack of hope or support. We planned Rebekah's funeral before she was even born. We didn't prepare a room. We didn't buy clothes or baby things. 

But God gave us strength and HOPE to get through those dark days, and Rebekah proved to be a fighter.

Rebekah has come from an extremely medical fragile trisomy 18 infant...

...to an incredible little girl that cannot be defined by a label.

There IS HOPE for TRISOMY!!

Here are some sources of HOPE for Trisomy kids...

• Click here to read Stories of Hope for Trisomy.
• The Experience of Families With Children With Trisomy 13 and 18 in Social Networks - Parents who engage with parental support groups may discover an alternative positive description about children with T13-18. Disagreements about interventions may be the result of different interpretations between families and providers about the experiences of disabled children and their quality of life.  MUST HAVE ARTICLE FOR PREGNANT MOMS TO GIVE TO THEIR DOCTORS AND FOR ALL TRISOMY FAMILIES TO SHARE WITH THEIR DOCTORS/SPECIALISTS.
• Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients
• Outcomes of Cardiac Surgery in Trisomy 18 Patients
• Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18 - "Cardiologists were more likely than geneticists or neonatologists to recommend intervention on all heart lesions other than single ventricle palliation which no specialists recommended. Parental wishes that "everything be done" significantly influenced all specialists' recommendations."  Empowered parents is a HUGE factor in surgical interventions. Nothing will happen without it! Don't wait for your doctors to okay surgery - you need to be your child's advocate. Given the data, if you do a few calculations, you will find that 850 doctors were involved in over 900 cardiac surgeries on Trisomy 13/18!!  And the doctors that responded only represent 1/3 of those who could have responded. WOW!

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. ♥

Keep on MARCHing into Trisomy Awareness...

Lots of awareness brought to you through days 6& 7!

DAY 6 SHARE:

Trisomy Awareness - Day 6 
Trisomy isn't the only condition discriminated against. Today people are united worldwide to help raise awareness about the negative impact of labels. While we may deal "incompatible with life", many people labeled with the "r" word are facing a similar discrimination in their community, in the workplace, at school, etc. So commit today to not only raise awareness about TRISOMY, but commit to SPREAD THE WORD TO END THE WORD.
Language affects attitudes. Attitudes impact actions.Special Olympics and Best Buddies International encourage people all over the world to pledge now to use respectful language at www.R-word.org and build communities of respect and inclusion for all people.
Language affects attitudes. Attitudes impact actions. Special Olympics and Best Buddies International encourage people all over the world to pledge now to use respectful language at www.R-word.org and build communities of respect and inclusion for all people.

From Spread the Word to End the Word:

On Wednesday, March 6, people around the world will unite their communities to Spread the Word to End the Word®, as supporters participate in the 5th annual ‘Spread the Word to End the Word’ awareness day, aimed at ending the hurtful use of the R-word (“retard(ed)”) negatively impacting people with intellectual and developmental disabilities (IDD).

Trisomy 6: Meet William who has Partial Trisomy 6p. Follow the link for the story!

DAY 7 SHARE: 

On our 7th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about chromosomes. Our chromosomes carry our genes, the basic units of heredity. Our genes are made up of DNA. There are approximately 30,000 genes that influence our growth and development. Each gene occupies a specific location on a chromosome. With the exception of the X and Y chromosomes, there are two copies of each chromosome and therefore two copies of each gene. When a mistake or an alteration occurs in one or more of our genes our body does not develop properly, and this can lead to a genetic disease. Share because you Care. ♥

Trisomy 7:  Meet Rachel who is 27 years old with Partial Trisomy 7. Follow the link for the story!

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.

Trisomy Awareness Shares

Let's make this month a successful one for raising Trisomy Awareness! Here are some photos to share and some information to pass along about trisomy.  Sharing a tidbit of information about trisomy from Hope for Trisomy's facebook page. Visit daily this month for more information about trisomy!

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. ♥

This is a facebook-sized banner made by a friend of mine who lost her T18 daughter. The footprints are her much-loved and much-missed Ellie Cushman. If you cannot resize this for facebook, pull the photo off of Rebekah's facebook banner: http://www.facebook.com/rebekah.budd

Boy version of the banner.

Facebook Trisomy Awareness profile pic for girls

Facebook Trisomy Awareness profile pic for boys

Please feel free to share Rebekah's photo, story, and information below in support of Trisomy Awareness month!
March is Trisomy Awareness Month. Trisomy is a genetic condition in which there is an extra chromosome in every cell. Down syndrome is trisomy 21. Many rare trisomies are deemed "incompatible" such as Rebekah's Trisomy 18. However, she is showing that she is, indeed, compatible with life. Many trisomy children are aborted or denied life-saving medical interventions. Even with Down Syndrome the abortion rate is >90%. We want people to know that these children are loved and deserve a chance, because every life has value!

Rebekah's Blog: http://buddzoo.blogspot.com/
Rebekah's Facebook Page: http://www.facebook.com/rebekah.budd
Hope for Trisomy: http://www.hopefortrisomy.org/
HFT on Facebook: https://www.facebook.com/HopeForTrisomy13and18

Do you have a trisomy story to share? Post it to Hope for Trisomy and we will add it to our facebook Tri-kids and blog!
Rebekah's Blog: http://buddzoo.blogspot.com/Rebekah's Facebook Page: http://www.facebook.com/rebekah.buddHope for Trisomy: http://www.hopefortrisomy.org/HFT on Facebook: https://www.facebook.com/HopeForTrisomy13and18
Do you have a trisomy story to share? Post it to Hope for Trisomy and we will add it to our facebook Tri-kids and blog!

Feel free to replace you facebook photo with this one in honor of Trisomy Awareness Month!

Let the world know that what the medical community calls "incompatible" and "futile" is met with a different definition by those who love and care for their trisomy miracles.  Please feel free to share!  A larger version is available at Hope for Trisomy's facebook page photos, along with word art for Conventional Thinking and Balanced Approach.

The following 4 posters were designed and offered freely by Eva's Gifts. You can visit her page to order them already made or to download a higher res copy. There is one for Joy, Life, Love and Hope - all featuring different trisomy children and one word their family chose to describe each one. Truly a beautiful project! If you visit her page, there is also a link to a picbadge awareness ribbon and some other banners.

Trisomy Awareness Month - Covert Medical Futility Policies

March is Trisomy Awareness Month. Because many of the rare trisomies are still considered "incompatible" and "futile" despite the growing number of "survivors", I wanted to kick off the month by highlighting a family who has helped raise awareness of covert medical futility policies. These policies exist in most hospitals and few states have laws that require disclosure. They result in passive euthanasia that is accepted by the medical community. It is not acceptable or reasonable to the grieving parents who have lost children due to these policies.

Back in April of 2012, I posted about the Kelletts' journey with their much loved and missed son, Peter.   Peter had full trisomy 18 and was doing well despite the condition. But the Kellett's 6 year old son died after an appendectomy.  An independent autopsy proved that the hospital's "cause of death" was not true and his death could most likely have been prevented. Or was it... encouraged / induced / precipitated?  He was most likely subjected to covert medical futility policies that put the power and decision-making solely into the doctor's hands as they allowed him to die by internal bleeding even when the family voiced their concerns about this possibility. Their journey led Mary Kellett on a mission to have medical futility policies disclosed.

In addition to Mary's efforts to change MN laws and make futility policies public knowledge, their story is now being publicized. There are efforts going on in other states as well to make it illegal for hospitals to withhold information about their Medical Futility Policies from families.

• Peter Kellett and Trisomy 18: Part I - excerpt from the article
  "The doctor said infection from appendicitis had strained Peter's heart to cause death. But the Kelletts weren't believing him. They ordered an independent autopsy, which found no infection. Peter had internally bled to death."
• Peter Kellett and Trisomy 18: Part II - excerpt from the article
  "She said, "All throughout Peter's life, from the beginning, the only help it seemed we got (from the medical profession) was to help him die. There was a huge difference between the way doctors treated Peter and the way they treated our other kids. It was like they couldn't see the value of his life. The doctor (at his birth) said Peter would never contribute to society. My argument has been that people with disabilities contribute to society in the most important way. They help us become better people. I call them 'teachers of our souls.'"If having known that particular hospital had adopted a futility of care policy, Kellett wouldn't have taken Peter there. She said parents had the right to know these policies existed. She said, "I have a feeling what's behind (these futility of care policies) is saving money. There's a lot of passive euthanasia going on, especially involving kids with disabilities. We're still devastated over how Peter died." 

Please become educated and aware of these issues that parents of trisomy children face regularly.  It isNOT okay to make death decisions based solely on a medical or genetic label and these practices need to stop. "Contribution to society" comes in many more forms than just working and paying taxes. Special needs children hold a very special place in this world - they teach us about our humanity, about unconditional love. To quote Mary Kellett, "I call them 'teachers of our souls.'"

Visit the Medical Futility Blog for more information.
Help support Mary Kellett's 501(c)(3) - Prenatal Partners for Life.  They offer support and information to families who choose to carry to term a baby with an adverse prenatal diagnosis and support for raising a special needs child.