Trisomy 16: The Story of Shayna Lange

Trisomy 16: The Story of Shayna Lange

Jared Rogerson

October, 2014

Genetic Disorders

Mr. Youell

Recently I have seen a lot of blogs and support websites for Trisomy 16, so I decided to write about this disorder. Trisomy 16 is a genetic disorder which is the main cause of First Trimester Miscarriages. A miscarriage is when a pregnancy naturally aborts itself, and can be caused by many different things, including Trisomy 16. A trisomy is where a group of chromosomes in a persons DNA have three of the same chromosome, instead of the usual two. In the case of Trisomy 16, the sixteenth pair of chromosomes is not a pair, but a threesome. This is usually caused by something called nondisjunction (see Fig2) which happens during Meiosis, and splits the chromosomes up wrong, making the gamete (male sperm or female egg) have three sets of chromosomes in it.

There are quite a surprising amount of blogs and support groups for this, which are catered towards parents who find out that there would-be child has Trisomy 16, and how to live with it and what to do. One such story from one of these blogs is about someone who actually survived Trisomy 16 passed birth, and is living an almost normal life. This child is named Shayna Lange, and she has Trisomy 16. She was born three months earlier than expected, and the doctors said that she would not survive until birth, let alone into her adult life. She had some speech disabilities early in life as well as being not up to par in Math, but she worked extremely hard and overcame this, eventually even graduating high school with a 3.2 GPA. She went on to go to college and is still alive and doing extremely well to this day.

Although Shayna is doing really well, that isn't the case for most fetuses or babies with Trisomy 16. According to trisomy16.org, Shayna is one in about 100 people  with Trisomy 16 that survived birth, and continued on into adulthood. This is very low considering that about 1% of all pregnancies have this genetic disorder, which is actually fairly high considering that it means that one in every one hundred pregnancies, the child will have Trisomy 16.

There are two different types of Trisomy 16; Full Trisomy 16 and Mosaic Trisomy 16 (see Fig1). Full Trisomy 16 is when every single cell in the body is affected, and it is incompatible with life, meaning that it is nearly impossible to survive past the First Trimester of pregnancy. This obviously resulting in a miscarriage.  On the other hand, Mosaic Trisomy 16 means that only some of the cells are affected, meaning that the fetus has a slim chance of surviving birth and continuing on afterwords.

The effects of Mosaic Trisomy 16 vary wildly depending on how many cells are affected, and where the cells that are affected are located. It can be anywhere from a perfectly normal developmental child, to some minor cognitive function issues, to serious brain problems, as well as some possible muscle or growth issues. Also most cases result in premature birth which can bring problems of its own; like the baby not having fully developed lungs or heart, as well as the possibility of different kinds of disorders.    

As you can see Trisomy 16 is a very serious and dangerous genetic disorder, but even so some children survive into adulthood and live almost completely normal lives. This depends on whether they have Full or Mosaic trisomy, because with Full trisomy it is impossible for the fetus to live to birth and beyond, but with Mosaic trisomy it is possible for the child to be born and live a full and fulfilling life.   

Figure 1:  Shayna Lange: Survivor of Mosaic Trisomy 16 who has lived a successful life to this point

Figure 2: what happens during nondisjunction to cause genetic disorders in a fetus

Patau Syndrome, Trisomy 13

Lana Jovsic

10/10/2014

Patau Syndrome.

October 16 2012 was the birth of what everyone hoped would be a healthy baby girl unfortunately that was not the case.  Jessica Kerr has the rare genetic disorder called Patau syndrome also known as trisomy 13. Because of her condition her parents have to save her life up to five times a day because she stops breathing. Along with sever breathing difficulties she also has a cleft palate, and a very bad immune system which makes her prone to getting infections and is very difficult for her body to fight of. As you can see on Figure 1 Jessica Kerr is fed through a nasal tube because of the sever cleft palate she has on the inner side of her mouth. During her pregnancy Mel Kerr was told that her child might have some minor disabilities but was encouraged by her doctors to carry on with the pregnancy because there is a good chance the child will be healthy, which was not the case.  Two days after Jessica was born the doctors diagnosed her with Patau syndrome and she was not expected to live longer than a week but Jessica beat the odds and continued to amaze the doctors. “I was crushed. Children with the syndrome often do not survive very long but Jess got to four weeks, then to Christmas, then to three months and now we have got to her first birthday.” Said Mel Kerr while doing an interview for Leicester Mercury  on her daughters first birthday. Since Patau syndrome is considered one of the most severe chromosomal abnormalities, there are many support groups to help the families with a child who has trisomy thirteen such as SOFT UK.

 

Figure 1: This is a picture of Jessica Kerr, who suffers from the rare genetic disorder Patau Syndrome and has to be fed through a nasal tube.

 The Patau syndrome was discovered and later named after Dr. Klaus Patau in 1960. Having three copies of chromosome 13 instead of the usual two copies in each of the body cells causes the syndrome. Figure 2 shows a karyotype of a person who would have Patau Syndrome because of the third chromosome 13. Trisomy 13 can also appear when a part of chromosome 13 attaches to another chromosome in the process of formation of the egg and sperm (or very early in the development of the fetus). Mosaic trisomy 13 occurs when people with trisomy 13 have an extra chromosome in only some of the cells. In this case what determines the severity of physical deformation of the person who has the disorder is the number of cells where there is the extra chromasome.  There are various symptoms of Patau syndrome they include: heart problems, brain and spinal abnormalities, poorly developed eyes, cleft palate, weak muscular structure, extra toes or fingers, sever mental retardation, kidney defects and other. 1 out of 16,000 newborns have Patau syndrome, the chance of your child having trisomy 13 increases, as the woman gets older.  According to About Health 95% of the babies with Patau syndrome are miscarried. Out of those 5% of that are delivered only 5-10% will to survive to their first birthday, there are barely any adults who have Patau syndrome.There are 21 reported people who have lived past the age of five; three of them have mosaic trisomy 13 and 18 have the standard trisomy 13 where the oldest person is 21. In most of the cases trisomy 13 is not inherited because it is a product of what happened during the formation of eggs and sperm. For example Mel Kerr gave birth to five healthy children prior to Jessica. The syndrome appears to mostly affect female children because most of the males are stillborn or miscarried, but the doctors aren’t sure of why that is. Actually 64% of the babies with Patau syndrome are miscarried/stillborn. There is no certain cure for this syndrome because there are many variations of the symptoms so the babies are treated according to the symptoms. 

Figure 2: This is a karyotype, which shows someone who has Patau syndrome also known as trisomy 13.

Despite the fact that this syndrome is not common there should be more awareness about what people can do in order to help, and just support the families whose children suffer from this disorder. Hopefully through intensive research there will be a cure for this disorder or at least a way to extend the life expectancy of babies affected.

Bibliography

News article

http://107.oakfm.co.uk/round-here/news/local-news/mum-thanks-loughborough-charity-for-helping-her-daughter-get-to-her-first-birthday/

http://www.leicestermercury.co.uk/Baby-forgets-breathe-today/story-19938527-detail/story.html

http://www.dailymail.co.uk/health/article-2462954/Patau-syndrome-Parents-resuscitate-baby-FIVE-times-day-forgets-breathe.html

General Information

http://www.patient.co.uk/doctor/pataus-syndrome-trisomy-13

http://ghr.nlm.nih.gov/condition/trisomy-13

http://www.disabled-world.com/disability/types/patau-syndrome.php

http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm

Gym Says No to Down's Syndrome

Theresa Kuhns wanted to throw her son, Liam, a birthday party. She had looked at a few places online and finally decided on a relatively well known place called Surgent’s Elite Gymnastics. However while planning, Kuhns ran into an issue.

The company would not plan a party for Liam because he is a special needs child. Liam has Down’s syndrome. Surgent’s gymnastics did not have anyone who could properly train a special needs child, and when asked if they could hire one the answer was no. Children like Liam have to face adversity like this from people every day, simply because they have Down’s syndrome. But what is Down’s syndrome? What are the causes and effects of it?
            Down’s syndrome is a genetic disorder wherein there is an extra 21^st chromosome, this is why Down’s syndrome is also known as trisomy 21 (see Figure 1). It is also the most common genetic disorder in 691 having it. it was discovered in 1866 by John Langdon Down, however it had to been noticed before then. The disorder is caused by an error when the chromosomes are being separated and an extra 21^st chromosome is added to a cell. This is called nondisjunction and currently there are no known explanations as to why nondisjunction occurs.

                      (Figure 1- A karyotype of someone with Down's sydrome)

The most common signs of Down’s Syndrome are, according to the national Down’s syndrome society, “low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm- although each person with Down’s syndrome is a unique individual and may possess these characteristics to different degrees or not at all.” Most people with the disorder can live mostly normal lives with relative ease if they are given proper care. An odd fact about Down’s syndrome is that unlike most genetic disorders this one is not hereditary.

            Since Theresa’s story was broadcast a number of businesses have offered to host her son’s birthday party and the founder of the gymnastics company even apologized and said that the company would in fact like to host the party. However Ms. Kuhn turned him down as the party had already been booked with many other companies. The gymnastics company is going to change their policy and will host an event for children with special needs.

Down Syndrome

Healing Down Syndrome

     There is finally a cure for Down Syndrome! The article from the Scientific American described the new drug that annuls the effects of the Down Syndrome. The Down Syndrome has been considered an incurable developmental delay. Scientists have come up with a drug that effects the cerebellum (figure 1 illustrates the brain and shows the location of the cerebellum), part of the brain, and restores all of its imperfections. However, the drug has only been tested on mice with Down Syndrome. The cerebellum is in charge for the body's motor functions, motor learning and balance and is 40% smaller than normal in mice with Down Syndrome. The drug stimulates an important neurodevelopmental pathway that increases the size of the cerebellum. After taking the drug, the Down Syndrome mice could find their way out of a water maze. This could mean that the drug either fixed both the cerebellum and the hippocampus, or the hippocampus is responsible for more that we thought. As far as scientists know, the hippocampus (Figure 2 illustrates the position of the hippocampus) is responsible for learning and memory.

 








               (Figure 1) The cerebellum is the the
               lowest part of the brain responsible for                              
               body's motor functions, motor learning                            
               and balance                                                                        (Figure 2) The hippocampus                                                                                                                     of the brain serves for learning and                                                                                                           memory                                          
     According to Wikipedia, the Down Syndrome is a genetic disorder that is characterized by an extra 21st chromosome, hence the name Trisomy 21 (Figure 3 shows the karyotype of a person with Down Syndrome). It occurs when a chromosome does not separate correctly during anaphase and one gamete ends up with two copies of the 21st chromosome. That leads to all the cells having an extra chromosome, which creates serious consequences afterwards. After birth, the development is slowed down, so they never completely physically and mentally mature. People with Down Syndrome are mentally retarded and have certain physical traits that vary from the normal. For example, they usually have shortened hands, short necks, low muscle tone etc. Also, their facial characteristics include abnormal teeth, slanted eyes, a flattened face, a small but wide nose, small earlobes, etc. (Figure 4 clearly shows the facial characteristics of a child with Down Syndrome) The Down syndrome is also connected with cardiac and gastrointestinal defects that can result in premature death.The average IQ of an adult with Down Syndrome usually ranges around 50, (±10),  which is the average IQ of an 8 year old, but can go as low as 20, or as high as 70, but that is still low compared to the average IQ of an adult, which is 90-109.  The individuals that suffer from this syndrome live harder lives, for they have an intellectual and physical handicap. Because of their low IQ, they can't get jobs that require university. Also, they can't get jobs that require physical strength or endurance, like being professional athletes, artisans or builders because of the low muscle tone. A hundred years ago, life expectancy of people with Down Syndrome was only 12, but today it is 5 times larger, they can live to be 60. This disorder is fairly common, for it appears once in a thousand births. In live born children, it is the most common genetic anomaly. The child's genetic health is highly dependant on the woman's age. If a woman is 20, the likelihood of her child being born with Down syndrome is 1:1500, but at the age of 45 the likelihood increases to 1:30. The association between Trisomy 21 and the maternal age has nothing do with race, social and economic factors and geography. But how do you stop the appearance of  the Down Syndrome?  For diagnosing Down syndrome, trisomy 18 and the neural tube defect, a non invasive triple screen test is used. If the test is positive, then amniocentesis is done. An amniocentesis is the removal of a part of the amniotic fluid from the maternal gravid abdomen so the genetic material of the fetus can be sampled. For pregnant women older than 35 a triple test is not enough, but an amniocentesis is required. A karyotype has to be made during the second trimester of pregnancy, and if the doctors determine that the baby has Down syndrome, it is suggested that the mother gets an abortion.

(Figure 3) This is a karyotype of a person with                                      (Figure 4) This photo shows Trisomy 21                                                                                              facial characteristics of a child                                                                                                                  with Down syndrome

     The story is very important not just for people suffering from Down Syndrome whose abilities would be repaired, but also through many other aspects. The quality of life of the people with Trisomy 21 would improve too, because their intelligence and motor abilities would increase. Then they could take part in normal social activities. They could also have a larger variety of jobs to choose from, because they would be able to seek a higher education. This would also make their parents lives much easier, for the children would live normal lives and be independent when they grow up. Costs for nursing and care of Down syndrome people would be significantly reduced. 

Trisomy 13: Patau Syndrom

Noah Meine

Mr. Youell

9B Science

October 10, 2014

Trisomy 13: Patau Syndrome

          In a recent article, published by Life Site a women named Kara McHenry was informed on September 12^th 2013 that she is pregnant with a baby that had a genetic disorder called Trisomy 13, or commonly referred to as the Patau Syndrome. Doctors told Kara and her husband, Shane, that having Trisomy 13 made baby Corbin “incompatible with life”, and that there was a mere 1% chance that Corbin would be born breathing. No matter how slim the odds were Kara wanted to keep the baby alive.

            Baby Corbin was born seven weeks premature and faced a very low chance of surviving. For most babies with Trisomy 13, there is a 5-10% chance of surviving the first few days. For Corbin this chance was less than 1%. However, despite the odds present, Corbin survived the first few days and continued fighting on.  From then on Kara began celebrating Corbin’s life through a Facebook page named “Prayers for Corbin”. Kara would post a picture of Corbin every day and receive support from strangers. Corbin passed away at 135 days and had gained over half a million fans on Facebook. His parents and fans mourned his death, but at the same time celebrated his life. Below you can see Corbin at 115 days old (Figure 1).

Figure 1: Bay Corbin at 115 Days Old

            So what is Trisomy 13, and how did it affect Corbin genetically? Trisomy 13 or Patau syndrome is a genetic disorder. The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. In Trisomy 13 there are three copies of genetic material from chromosome 13, instead of the typical two copies, or pair of chromosomes. Trisomy 13 occurs when there is extra DNA is present in some or all of the body cells, and it is caused by nondisjunction during meiosis. As far as scientists know Trisomy 13 cannot be inherited, however according to The University of Rochester Medical Center  the chance of a baby being born with Trisomy 13 increases as the mother ages.  Trisomy 13 also includes a number of birth defects. This includes intellectual disability, as well as physical problems involving nearly every organ system in the body. Lastly Trisomy 13 occurs in approximately 1 out of every 1600 newborns.

            In conclusion, the significance of this story is more than a baby getting attention for having a genetic mutation, but it is more about the fight for survival and Trisomy 13 itself. This is also significant to people suffering from any chromosomal disorder and how science can help us predict genetic disorders and how people will still care about each other regardless.

            

            

Trisomy 18: Edwards' Syndrome

On September 10^th, Donnie Heaton turned 21. However, he is not like other 21-year-olds because he only weighs 55 pounds, or 25 kg. This is, according to a story from the DNA Science Blog, because he has genetic condition known as trisomy 18, or Edwards’ syndrome, which means that each of his cells has an extra chromosome 18. This happened because of a genetic mutation during mitosis, when chromosomes accidentally got misplaced, therefore one of the sex sells had an extra chromosome 18, which was then passed on to Donnie (see  fig.1).

Fig.1: Donnie Heaton, the oldest person alive with trisomy 18, and his mother.

 According to a page on NHS, ¾ of babies with Edwards’ syndrome are miscarried or stillborn, and if the baby survives beyond 1 year, then it will have a developmental disability, just like Donnie. The extra chromosome disrupts the normal course of development, and the baby grows very slowly in the womb, so most are born with a very low birth weight.

Some symptoms of Edwards’ syndrome include heart and kidney problems, poor growth, breathing problems, bone issues such as curved spine, frequent infections, and severe learning disabilities. The physical appearance of a person with trisomy 18 is slightly different from ordinary people. They often have a small, abnormally shaped head, long fingers that are fisted and overlap, low-set ears, and rocker-bottom feet (feet with a rounded base).

This condition is on the more serious side. Most do not even survive until childbirth. Only 5-10% survive beyond one year. However, those with partial forms of the disorder usually live until adulthood. An interesting fact is that Edwards’ syndrome affects 3 times more girls than boys. The disorder affects around 1 in 3000-5000 live births, and the chance of having a child with Edwards’ syndrome increases with the mother’s age. Sadly, there is no cure for the disorder, and the symptoms are very difficult to manage.

 Donnie is one of the oldest with the disorder, and his mother was 42 when she had him. She says she doesn’t believe in abortion, so she didn’t have an amniocentesis (a screening of the fetus to find any abnormalities), therefore she didn’t know that Donnie was going to have Edwards’ syndrome. The doctor in the delivery room knew right away what was wrong, and he said, “take him home and love him and he’ll die in your arms”. The doctor was wrong. He didn’t die; Donnie turned out to be a lot healthier than the doctors said. However, he is very low-functioning (see fig. 2).

Fig. 2: Donnie at his special needs school with his mother and other special needs people.

 Donnie had pneumonia 3 times in 1 year. He has fevers, heart problems, urinary infections, and he breaks his fragile bones. He doesn’t walk or talk. He only weighs 25 kg, and he won’t grow any more. But somehow, his mother says, he keeps going. He is a person. He reacts. He knows things. He recognizes people, and he shows emotion, just like any other human being. He is a rare one though, and he is believed to be the oldest person in the world with trisomy 18.

According to his mom, he likes watching football, and he likes the different colored lights and the sound of the clapping. He picks up on all the excitement. She says, “there’s a light inside those eyes, I can see it. Donnie amazes me”. 

Turner Syndrome; Missing X Chromosome

Missing X Chromosome- Turner Syndrome

Andrea Kostic, 9B

12/10/2014

Mr. Youell

            Mothers want what is best for us; it has always been like that. Even though being only 25 years old, Penny Jarvis already has four children. However, the last child she has delivered is a young girl, born with turner syndrome. Her name is Mackenzie Jarvis.  (See on fig. 1.) Penny’s goal is to freeze her own eggs, in order to provide Mackenzie with an option to have children later on in her life. Mackenzie was diagnosed with turner syndrome when she was five months old, simply because she was not feeding properly. Her mother was shocked and upset, where she says: ‘’I cried my eyes out. I cried for days. Even now I cry.’’

Fig. 1-Penny Jarvis with her daughter, Mackenzie

            Human beings are supposed to have two sex chromosomes in each cell. There are two possible combinations; X and Y which results as a male, and X and X which ends up being female. However, turner syndrome occurs when in female’s cell only one X chromosome is present, while the other one is either missing or being structurally different (see fig. 2).  That is exactly what happened with young Mackenzie, being diagnosed with turner syndrome, which itself affects a female individual in various ways.

Fig.2 -missing X chromosome

The reason why Penny Jarvis decided to freeze her own eggs is because turner syndrome causes infertility. Most women with Turner’s syndrome have ovarian difficulties, usually followed by very early menopause. Studies have shown that only 2% of women have natural pregnancies (where miscarriage is common), where it’s understandable why Penny made this decision.  Turner syndrome occurs one in about 2,500 girls, and infertility is not its only consequence. Quite the opposite, one of the most common things Turner syndrome affects is height, along with neck, heart and kidney. Almost all individuals being diagnosed with Turner syndrome have short stature. Scientists explain that due to a loss of one X chromosome, containing SHOX gene. SHOX gene is responsible for long bone growth. Average height of females with Turner Syndrome is 145 cm, and it is possible to be increased, with a special treatment given in early childhood.  In addition, Mackenzie is partially deaf, and she is required to wear a hearing aid and to communicate through sign language; more information about Turner syndrome on genome.gov.

I think Penny is a great example of treating everyone equally, even the people with chromosomal disorders. She is an example of giving them a choice in life. Penny does not pay any attention to her surroundings and other people’s thoughts, where she said: ‘’I have been called some really nasty names. To be honest, I expected that. But it’s par of the territory. My main priority is Mackenzie.’’

            This specific article on BBC has provided us and introduced us with a fact that people with disorders should have a choice in their life. It is certainly not Mackenzie’s fault for being born with missing X chromosome, and not a single right should be taken away from her. Having said that, Penny Jarvis should be respected for her actions, and Mackenzie should be provided with as much help as it is achievable.