It's a bird! It's a plane! It's TinySuperhero Rebekah!!

I can not even begin to formulate the words for the amount of love and admiration I have for my daughter Rebekah. From my pregnancy, to her first day on earth, to 6 weeks old when she was trached, to all her hospitalizations, and through each of her health challenges...there has never been any doubt that this little fighter was sent on earth to share a message of hope and faith. She has been a warrior through it all.  There is no doubt in my mind that Rebekah is a Tiny Superhero! And we received her official TinySuperheroes cape to prove it! 

Rebekah looked ready to take off and continue her official job changing hearts and proving she is more than an "incompatible with life" label! 

From TinySuperheroes.com:

TinySuperheroes seeks to empower Extraordinary kids — one cape at a time. We donate capes to Extraordinary TinySuperheroes who exemplify strength and determination as they overcome illness or disability. Once these Extraordinary TinySuperheroes are comfortable in their new capes, we feature them on our blog, in hopes of giving them a voice, their illness or disability a face, and the world the opportunity to stretch.

What an amazing way to inspire others and bring a little hope and fun into the life of a child facing great challenges!  A huge THANK YOU to Robyn for creating this program for all the TinySuperheroes out there! Please consider supporting their efforts!

I have to brag on Robyn for a moment about the quality of her capes too. It is obvious that love and care go into the making of each personalized cape! I was expecting just a little cape, but this one can make anyone fly! It was soft, and thick, and beautiful! Even the inside of the cape is designed. 

  

It even came with a personalized message just for Rebekah!

I think Robyn deserves her own superhero cape for all of her efforts! For more information on Tiny Superheroes, please visit their website or Facebook page. 

Rebekah has always been our hero, but now she can wear her official cape and show the world what we've known all along.  Rebekah can also now be a TinySuperhero ambassador for Trisomy 18 Awareness! Yay!

Thank you TinySuperheroes for making a difference!
 

Rebekah Faith - Our TinySuperhero for Trisomy 18 Awareness!

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. ♥

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.

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.