Karen deJong
  • Female
  • edmonton alberta
  • Canada
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Karen deJong's Friends

  • Melissa Aguilar
  • Shawn Agnew
  • Brett B.

Karen deJong's Discussions

Later onset CESD- life goes on...

Started this discussion. Last reply by Melissa Aguilar Apr 16, 2012. 9 Replies

It is amazing how much difference a little bit of Lysosomal Acid Lipase can make.  There is such a huge difference between Wolmans and the later onset CESD. Amy has been on a very low fat diet for a…Continue

 

Karen deJong's Page

Latest Activity

Melissa Aguilar replied to Karen deJong's discussion Later onset CESD- life goes on...
"Hi Karen, I am very happy that your daughter is doing so much better.  I also have CESD and it is very scary being diagnosed and just not knowing.  I thank my lucky starts for this site and the people on here.  I myself am working on…"
Apr 16, 2012
Karen deJong liked Mary Pruitt's blog post WORLD Symposium 2012
Feb 27, 2012
Karen deJong and Melissa Aguilar are now friends
Dec 15, 2011
Melissa Aguilar replied to Karen deJong's discussion Later onset CESD- life goes on...
"Thank you so much for sharing this information Mary - every little bit helps.  I am learning more and more as time passes by."
Dec 15, 2011
Melissa Aguilar liked Karen deJong's discussion Later onset CESD- life goes on...
Dec 15, 2011
Karen deJong replied to Melissa Aguilar's discussion Living with LAL Deficiency....now what?
"Hi Mellissa.  Its good to see more people with LAL defficiency.  Our story is also here on the site.  We felt very lost and sad when we 1st got the dianosis as well, but as we have found more information and we have changed my…"
Dec 15, 2011
Karen deJong posted a status
"yes she is at the UofA"
Sep 10, 2011
Shawn Agnew and Karen deJong are now friends
Aug 24, 2011
Karen deJong left a comment for Shawn Agnew
"Welcome and thankyou for joining! It is encouraging to hear about other people that have lived with CESD."
Aug 24, 2011
Mary Pruitt replied to Karen deJong's discussion Later onset CESD- life goes on...
"This answer comes to us from Anthony Porto, a pediatric gastroenterologist and hepatologist at Yale University.    Patients with Wolman’s and CESD have a low level (as in CESD) or lack of LAL (as in Wolman’s disease). Loss or…"
Aug 5, 2011
Karen deJong liked Brett B.'s discussion My Path to Being Diagnosed with CESD
Aug 1, 2011
Mary Pruitt replied to Karen deJong's discussion Later onset CESD- life goes on...
"I will forward your message and hopefully have an answer for you soon! Thanks for asking such great questions!"
Jul 26, 2011
Karen deJong replied to Karen deJong's discussion Later onset CESD- life goes on...
"Hi Mary,Can you ask them another question as well?  Can you ask them how much we know about Acid Lipase levels?  Normal levels are 20-100?  Wow, what a range!  What is 'normal' for a 2 year old?  Would someone who…"
Jul 26, 2011
Mary Pruitt replied to Karen deJong's discussion Later onset CESD- life goes on...
"Hi Karen! We have been looking for an answer to your question about fat storage in CESD and Wolman's Disease. We are going to be asking a team of medical experts your question very soon! Thank you for your patience:) Mary"
Jul 23, 2011
Margi moakes liked Karen deJong's discussion Later onset CESD- life goes on...
Jul 20, 2011
Brett B. left a comment for Karen deJong
"Hi Karen,  You have a precious little girl.  I am more than happy to share my story about my diagnosis and living with CESD. "
Jul 14, 2011

Profile Information

What brings you to LAL Solace?
Education, Support, Sharing
Do you or someone you know have a LAL Deficiciency Disease?
Yes
If yes, who is effected by LAL Deficiency?
Child

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Comment Wall (4 comments)

At 3:43pm on April 12, 2011, Mary Pruitt said…
Welcome to the LAL Community. I don't have personal experience with CESD, but my son was born with Wolman's Disease so I have done research on both diseases. Please let me know if you have any specific questions because I may be able to either answer them myself or find the answer for you. Thank you so much for sharing your story and I hope you will feel comfortable sharing Amy's journey with us. Mary
At 5:28pm on April 12, 2011, Mary Pruitt said…
Wolman's is actually much more rare than CESD if you can believe it. The information I was provided with said that Wolman's is 2 per million live births and CESD is 25 per million. Still ultra rare. As you know, it is such a challenge to locate other families experiencing these diseases. I have met two other mothers who lost their child to Wolman's. I do have other children, a 5 year old daughter and a 6 month old son. As this is a genetic disease, the literature states that the chances of having another child with this disease is 1 in 4. And that 25% chance does not change with how many children you have with or without the disease. There is more information at www.Synageva.com. They are researching this disease at the moment. These are very lonely diseases and I am hoping that this community will make it possible for more families to get in touch with each other. When our son was diagnosed, we felt like we were on a deserted island because nobody knew what this was. I am assuming you are working with some great doctors. My personal advise is to keep searching and be an advocate for your dauther. You can point your doctors to www.Synageva.com as well. There is a video just for physicians on there that explains the disease. Please keep me updated on Amy! Thanks for writing, Mary
At 5:54pm on April 12, 2011, Mary Pruitt said…
Also, you may want to contact Franca Bargellini who is a member of this site. Her son has CESD as well. I think you should be able to send her a message. Let me know if you are not able to.
At 5:10pm on July 14, 2011, Brett B. said…
Hi Karen,  You have a precious little girl.  I am more than happy to share my story about my diagnosis and living with CESD. 

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