Wolf Hirschhorn Syndrome-Ryann McCready

 

                I am a known as the 4p deletion syndrome. I am quite rare and only affect 1 in every 50000 fetuses, and affect twice as many girls as boys. I am a genetic disorder, a deletion. I am caused by the loss of multiple genes on the short arm of chromosome 4, and most of the time the genes being deleted are NSD2, LETM1, and MSX1. I can affect the whole body of a fetus, can prevent them from ever developing properly. My host will experience distinct differences including physical, muscle, and mental. I am the wolf Hirschhorn syndrome and this is my story.

I first started out as being replicated during meiosis DNA replication. But something went wrong and part of my chromosome, the  fourth chromosome,  didn’t replicate. Because this part of my chromosome didn’t replicate the rest of the chromosomes shifted to fill in the spot, causing unplanned and different codes in my host’s DNA. The chromosomes are then replicated and fill the entire body, affecting my entire host, when he/she is born.

My host was born today, they named her Miesha. Miesha was born very small and underweight, with underdeveloped bones and muscles. She has a very small head, wide-set eyes and her nose is very close to her lips. I suppose I should be grateful I wasn’t a larger deletion, and didn’t do more damage to her outward appearance. I know she could have had a cleft lip or palate, a higher forehead, and a flat nasal bridge, or could even have been to weak to survive he birth. However I know I didn’t just affect her appearance. I have made it so Miesha will most likely never fully develop; having difficulty gaining weight and growing her whole life. I have made it so while Miesha will be able to socialize ok, but will have a lot of difficulty comprehending speech, and vocalizing it. Her motor skills; sitting, standing, and walking, will have a developmental delay, from Miesha’s birth, and she will forever be considered short. When Miesha was born, even after being in amniotic fluid, came out with dry skin, and her spine was greatly curved-abnormally. And since her birth she’s had frequent seizures, that the doctors couldn’t find a medication that worked. Her teeth grew in-most of them, but the doctor’s say that dental abnormalities are common in this very rare syndrome.  Growing older, her seizures slowly become more sporadic, which give her parents hope that one day they will disappear completely, which can also be common.

Miesha’s life will be full of treatments to try and give her an easier one. She will go through years of rehabilitation, and therapy-specifically; speech/communication and sign language classes. Miesha will also have to eat using special feeding techniques-a plan created by trial and error between the doctors and her mother. Miesha will, when she is strong enough, go through spinal surgery to try and correct her spinal curve. She will forever have sleep difficulties and will need to test several different methods of treatment to try and help her, and when she finally takes one that has results-they are minor and only help a miniscule amount.

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When researching this topic, I wanted to make sure that all the individual info was correct, so I individually researched each part-and then verified with different sites. I first researched symptoms of WHS, and from there I researched the individual cures/surgeries/etc. that countered these symptoms. I also researched ways It can happen, and chose the most common.  At the end, I tried researching the general topic and found this site, https:// ghr.nlm.nih.gov/condition/wolf-hirschorn-syndrom# and verified all my information. I also researched cases of WHS to see how it affected their lives. Some of the sites I used were,

1. http://www.webmd.com/children/wolf-hirschorn-syndrome#1
2. http://patient.info/doctor/wolf-hirschhorn-syndrome-pro
3. http://wolfhirschhorn.org/
4. http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/
5. http://www.webmd.com/back-pain/guide/types-of-spine-curvature-disorders?page=2
6. http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/
7. https://www.ncbi.nlm.nih.gov/pubmed/9774859
8. http://wolfhirschhorn.org/2012/08/kendall/kendall-5-year-milestones/

During this project I mainly used different sites on the internet, word to write, but I also watched online videos to see the gene mutation and to try and better understand. Throughout the project, I would separate the material and different sections into individual entities, research them, verify, double-check comprehension, verify that I could incorporate it into Miesha’s life, and then add it to my list of notes… that I later would put together to flow and seem like the life of a person. I found it best to go through all of these steps because some of the sites talked a little about the syndrome but had different syndromes, or hey had the right information but it didn’t fit into my picture of Miesha’s life and therefore I couldn’t include it.  If any information I had read/watched/ discovered wasn’t repeated on another site, I wouldn’t use it for fear of including wrong information. If I thought it sounded right but hadn’t “reseen” it, I would individually look it up to see if I got any websites talking about the “idea” in context to WHS. I feel like this project went over smoothly-almost perfect. I found it very interesting and learned quite a lot about this syndrome specifically, but also about how mutations work in general. I learned and wrote about quite a few different things and could figure out and better understand our class studies due to the learned information in this project. It wasn’t easy- but it wasn’t hard. I believe that the one thing I could have done better was to either include more links; I forgot to write/put in the links to the couple of videos I found and didn’t manage to get all of the sites, but I believe I included quite a few, and the other thing I believed could have been better was using other, different sources of information. I only used sites on the internet and could have used books/encyclopedias/ a documentary/etc. (Although, in my defense I did try to access riverside’s online database, and it kept asking for a password-which could have been because I was trying to access it at home-because it did work when we had previously used it at school.)

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Wolf Hirschorn Syndrome…Notes

• -deletion of genetic material near the end of the short (p) arm of chromosome 4.
• Chromosomole change
• Size of deletion varies among affected individuals
• Larger deletions result in more severe intellectual disability/physical abnormalities
• Signs and symptoms are related to loss of multiple genes on the short arm of chromos. 4
• NSD2/LETM1/MSX1 are gènes that are deleted in people with typical signs of whs
• Distinctive facial appearance… broad flat nasal bridge and high forehead, widely spaced or protruding eyes, shortened distance between nose and lip, Down turned mouth a small chin, poorly formed ears…. development delay, seizures, abnormal electrical activity in brain, dental abnormalities, cleft lip or palate
• Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight (failure to thrive). They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, and walking are significantly delayed. Most children and adults with this disorder also have short stature.
• Intellectual disability ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual disability, their socialization skills are strong, while verbal communication and language skills tend to be weaker. Most affected children also have seizures, which may be resistant to treatment. Seizures tend to disappear with age.
• Additional features of Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal curvature of the spine (scoliosis and kyphosis), dental problems including missing teeth, and an opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, genitourinary tract, and brain.
• 1/50000, twice as many females than males
• Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. They result from a chromosomal deletion that occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. More complex chromosomal rearrangements can also occur as de novo events, which may help explain the variability in the condition’s signs and symptoms. De novo chromosomal changes occur in people with no history of the disorder in their family.
• A small percentage of all people with Wolf-Hirschhorn syndrome have the disorder as a result of an unusual chromosomal abnormality such as a ring chromosome 4. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. In the process, genes near the ends of the chromosome are lost.
• In the remaining cases of Wolf-Hirschhorn syndrome, an affected individual inherits a copy of chromosome 4 with a deleted segment. In these cases, one of the individual’s parents carries a chromosomal rearrangement between chromosome 4 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Some people with Wolf-Hirschhorn syndrome inherit an unbalanced translocation that deletes genes near the end of the short arm of chromosome 4. A loss of these genes results in the intellectual disability, slow growth, and other health problems characteristic of this disorder.
• rehabilitation, speech/communication therapy and sign language
• special feeding techniques, gavage feeding, and/or gastrostomy for feeding difficulties.
• Standard care is recommended for spinal anomalies,
• sleep disturbance