COL mutations story

I am ‘Cockayne syndrome’, I can also be called the Neill-Dingwall syndrome. I am a rare but fatal disease. Doctors say that I am an autosomal recessive neurodegenerative disorder. I cause growth failure, sensitivity to light (Photosensitivity), various eye disorders as well as premature aging (progeria). I also negatively affect the development of the nervous system, I may cause deafness. My host will also experience an abnormally small head size also known as microcephaly, they will develop slower than they should. They will be of shorter height and will find it hard to gain weight. Some people also call Cockayne syndrome a rare form of dwarfism, due to the fact that the host will experience delayed development and will be much shorter than they should be, they may have an unusually thin nose.Hollow or sunken eyes, misshaped and large earsand, tooth decay. The host will experience the symptoms becoming progressive and the disease will be more apparent after one year. There are other forms of my disease, there is ‘CS type ll’ this is congenital which means that doctors will be able to diagnose you with my disease at birth. The other one is ‘CS type lll’ this one is only noticeable later in the hostesses development. The fourth and final one is ‘XP-CS’ also known as Xeroderma Pigmentosa- Cockayne syndrome, this form combines characteristics and descriptions of both ‘CS type ll’ and ‘CS type lll’. Now that you know more about my disease we can move onto what my host will experience. The two genes which a mutation can cause ‘CS’ is ERCC6 and ERCC8. We can call my host Piper piper was recently born and doctors have already diagnosed her with my disease this means that Piper has ‘CS type ll’. Pipers parents are worried about their newborn daughter. The doctor will explain all of the details symptoms and things that go along with ‘CS’ to the parents (essentially everything that I told you guys). Piper will have various treatments to help her be able to live with my disease for example in order to help prevent contractures she will need to do some physical therapy, this also helps maintain ambulation. Another thing is that Piper should not stay in the sun for too long and if she is in the sun excessive amounts of sun screen are required and crucial. Another thing that Piper will have to consider in the near future is surgical care. A ‘Cochlear Implantation’ can help in minimizing auditory impairment. She will also have to be aware of some adulthood diseases that she may experience due to my disease, these include ‘renal impairment’, diabetes mellitus and, ‘myocardial ischemia’. Other han that there really arent anything else that these patients can do to treat their illness. Regular checkups with different sorts of doctors are needed. Piper will constantly have to check her ears and dental care as well as regular trips to do tests and checkups on her brain. If Piper is not careful with what she does or doesn’t do she may die and early death. This is not a disease that you can cure it will follow Piper through out her whole life. Children will make fun of her at school because of the way she may learn or look or even act. These are just things that Piper has to get used to and watch out for.


1) I had to research many questions such as what mutations have to happen to cause this disease? And many others such as what the symptoms are, and what treatments are available to those suffering from this disease.

2) I used word online to type out my story and I went on various websites to collect information.

3) I sort of went by sections, first I introduced my disease then I gave information on it and then I began the hosts journey.

4) For each bit of information I visited more than one sites to make sure that the information was correct. If there was something I wasn’t sure about I left it out.

5) It was a fairly easy assignment and it was really cool to learn so much about a topic I didn’t really have much difficulty with it. Only when I was researching treatments and I couldn’t believe what a lack of treatments there were. Something I could have done better is to have started the assignment a bit earlier than I did.

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