About CS

 

Cockayne Syndrome is a rare genetic disorder causing premature aging in children.

Currently, there is no treatment for CS.

The disorder is difficult to diagnose, often resulting in months of testing. The most recent study published on the diagnosis and treatment of Cockayne Syndrome is a research article from May 2016, published by the American College of Genetics and Genomics, authored by Dr. Brian Wilson and colleagues. Please refer to this article for the most exhaustive and current information regarding this rare syndrome. In the article, my son Knox is featured as top photo exhibit a (progression) and I (hands held fisted).

This page was created in order to give photographic reference for some common CS symptoms, to help those who may be seeking a diagnosis and to raise awareness of this rare disease.

My son was diagnosed with severe CS at 8 months old.  The life expectancy is 5-7 yrs.

In the above photo collage, the premature aging caused by the disease has already become apparent before his 2nd birthday.

The look of this syndrome is even more apparent in this photo progression, which shows him from age 4 months to 3 1/2 years.  The deep-set eyes and small head are the two most common physical characteristic of children with CS.

CS Progression COllage 3

He lived 42 months, 2 weeks, and 4 days.

He was born on July 14, 2010, and passed away on February 1, 2014.

Some common symptoms of CS:

cs feet

 

A child with Cockayne Syndrome may only have a few of these symptoms, and they are seen in differing degrees from child to child. To see a list of more physical signs associated with CS, along with photos of other children, click here. For the most recent and comprehensive medical report on CS, click here.

44 thoughts on “About CS

  1. Tu bebé es toda ternura y tiene una mamá muy valiente que de su dolor saca fuerzas para ayudar al prójimo. Un abrazo para ambos.

  2. My heart goes out to you and your family, Scarlett, as you are living with this heartbreaking disease. There are no words to say really, and I’m sure you’ve heard them all, so I will keep you and your baby boy close to my heart in prayer. I will say that he looks HAPPY and LOVED! Perhaps through this journey others will see the grace of God in His face and in your lives. I just did.
    Heartfelt prayers,
    Margo

    1. Thanks for reading about CS, Tina. It’s important to me to raise awareness of this rare syndrome, one person at a time. Thank you for your prayers, as well, and many blessing to you and your family. ~Scarlett

  3. Hi Scarlett, Really enjoyed your website. The Stare cards are a awesome idea, I could get some use out of them.
    Love to you and your family.
    XX

  4. Dear Scarlett my heart goes out to you and your family. It good to see a parent that informing the public of the rarity of this disease. If I can be of any assistance please let me know. Your artwork is inspiring and overall a gem to gaze upon.

  5. Thank you for sharing Knox and your family’s story with us. Madelines documentary was beautiful, truthful and touching, I am sure you are very proud of her. She has changed the way I see childhood diseases, she is a blessing to us all. ~Diane

    1. Thank you, Christine. He was a beautiful boy and he has left a huge hole in my heart. Appreciate your comment, thanks again for your visit, Scarlett

  6. I am so sorry for your loss, He was a very beautiful boy who is now an angel looking after you. You are a wonderful artist.

  7. Hi Scarlett, I came across the picture slide (6 pics from 4mths – 3 1/2 yrs old) of your son & I started bawling. Your son looked identical to my almost 3 yr old daughter who we have just tested & waiting on results to confirm Type II CS. She right now looks like the 2nd to the last picture. We are trying to enjoy every day with her we don’t know how fast she will decline. The past 6 months she has decline a great deal and it scares to me think how fast this will be. Thank you for this info, I am so sorry for your loss and it breaks my heart to have to know your pain of losing a child one day. :’-( (hugs)

    1. Hello Tina, I’m crying as I just read your comment and I know how your heart is breaking into a million pieces. Please find me on FB (Scarlett Clay) I would love to connect with you and learn more about your angel. Also feel free to email me at scarlett.clay@gmail.com. Much love to you and your family <3 ~Scarlett

  8. Hi Scarlett, I came across your website as I was doing some research on Cockayne Syndrome. I have a project and lesson to present on this disorder for my genetics class and was wondering if I could use the pictures of your son on here as a visual for my project on the many symptoms of CS. Also I’m sad to hear about the loss of your son, as the loss of a child is probably one of the most devastating things a mother could go through. Continue to be strong and to raise awareness for CS.

    1. Hi Ana, thank you so much for asking. Yes, of course you can use the photos, just please include the web site address so others can refer back later, if they ever have an interest. This is the reason I put together the photo page of Knox, so I’m glad you may be able to use them. Thank you for helping to raise awareness for CS. ~Scarlett

  9. Bless you for sharing your beautiful son. I wasn’t aware of this illness until now, I am so sorry for your loss. Peace be with you.
    Christina

  10. What a beautiful little boy, this post made me break out in tears..I’m so sorry for your loss xx. My son who is nearly 7 month old was born with cataracts in both eyes and has a lot of the characteristics of this awful disease, I was advised not to look up this syndrome as I am waiting for results to confirm whether he has this, but it’s human nature not to be curious. I came across this website after searching about cockayne syndrome. Thank you for sharing your story, sending hugs xx

    Kay

    1. Thank you, Kay <3 Feel free to contact me by email if you have any other questions about CS, I'm always open to sharing about our journey and want to help people get correct diagnoses. Blessings to you and your precious baby ~ scarlett.clay@gmail.com

      1. Thank you Scarlett, it means a lot. The waiting game is horrible , I was told it could take up to 3 month to get the results xx

        Kay

    1. Hi Brian. As far as I know, the parents of CS children (as carriers) are unaffected by the mutation. ~Scarlett

  11. Bonjour Chere Scarlett,

    Je vous ai contacté récemment par mail pour vous parler de mon histoire personnelle, je viens de traverser la même épreuve que vous et c’est tellement difficile.Avez vous pu prendre connaissance de mon mail?

    Prions pour nos enfants…

    Fred

    1. Hello Fred,
      I have attempted to write you a few times, but I wind up crying and am not able to finish. I still cry a lot when I write about Knox and learn about other children who have suffered with CS. Please forgive my delay, I will write soon. Much love, Scarlett

  12. Dear Scarlett,
    I am a doctor in the UK, preparing for exams. This is a disease (among others) that I need to be aware of. A tear came to my eye as I looked at these pictures.

    It must be absolutely heartbreaking to be in your situation, and I cannot imagine it. I just wanted to that thank you for your beautiful images that will help with my own learning.

    Sincerely
    Gagan

    1. Gagan, hello from Texas ~ Thank you for taking the time to leave a comment~ the only reason I have posted these photos is for the very reason you mentioned, awareness and understanding. Blessings on your studies and your learning. I hope you can some day meet a child who has Cockayne Syndrome. I cannot post any photos of what a joy that experience is. Take care ~Scarlett, Knox’s mom

      1. Gagan, if you happen to get this message, I also wanted to direct you to a recent published journal article I just added to my CS page. It is an original research article published by Dr. Brian Wilson, May 2016. Take care!

  13. Hi

    crying my eyes out reading this. what a beautiful boy! our 15month old girl Amber is awaiting results from the testing for this syndrome. its heartbreaking. I am so scared. Was good to find this site to refer to. I got told not to research until results are in but found it impossible.
    Such a wonderful thing to do to raise awarness of such a rare disease. Thankyou.

    Jennifer.

    1. Hi Jennifer,
      I’m so sorry you are having to “search’ for symptoms. I did the same thing and I know how scary it is. Much love to you all, please email me at scarlett.clay@gmail.com if you have any questions. Waiting for answers is so difficult and exhausting. Much love to your sweet Amber and your whole family. ~Scarlett

  14. Hi dear
    I want to appreciat for ur patient in life.i learned more from u. I wish i could be like u in life.ur innocent boy is so atteractive.god bless u and ur family.

  15. Thank you so much for your photography diary. My granddaughter just got diagnosed. We are looking for parents and groups for support as we go through this. After seeing pictures and reading about C’s , which I’d never heard of before, our baby girl looks so similar. Just starting our journey. Thank you for sharing yours.

    1. Hi, Joy, I”m so glad you were able to find this page helpful. Please feel free to msg me anytime about CS or if you have any questions. scarlett.clay@gmail.com. There is a support group in the US (Share and Care) and the UK (Amy and Friends). Both are excellent resources, too. Much love to you on your journey. Also, for encouragement, I hope you can see my article “A Loving Nature is a Symptom” here on my blog. I wish I would have been able to understand what I share in that article at the beginning of the journey and not the end, so I hope you can find the time to read that one. Again, feel free to send me an email, would love to see a photo of your sweet angel <3 Much love from Texas!

  16. Scarlet, I am amazed by your strength and the depth of your love for your son. I did not know of this disease but I will do my best to raise awareness about it so that if another family is suffering they may be made aware. Thank you for sharing your story and raising awareness and funds. Bless you and your family.

    1. Thanks for taking the time to learn about CS, Patty. And thank you for your kind words, as well. Blessings to you! ~Scarlett

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