Later onset CESD- life goes on...

[Karen deJong]

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 few months now.  She is doing much better- her arms and legs are getting chubby- she has a double chin too :).  And - thankyou to our Father in Heaven- her liver has shrunk significantly! -the doctors were suprised how much it had shrunk.  Amy is way more energetic and chipper.  We are adjusting to our family's new diet -everyone is eating healthier now and I think everyone's stress level is down.
When she was diagnosed we were scared of what we would be facing.  There was so little information out there!   Now we are feeling a little more positive about her life expectancy, controling her diet, and a possible treatment.  We would still like to make contact with others facing later onset CESD.

[Karen deJong]

Her doctors talked about her body treating 1 gram of fat like 15 grams.  So... she stores 15x the fat? 
I am not sure where they came up with those numbers from.  Are those kind of #s available for Wolman's?

[Mary Pruitt]

Thank you so much for sharing! And I am so glad to hear of Amy's improvements...gotta love chubby little ones:)

[Mary Pruitt]

And I am not sure about the information about Wolman's with fat storage percentages. We were never told about anything like that. Let me look into that. Very good question!!!

[Mary Pruitt]

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

[Karen deJong]

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 has a level of 15 be diagnosed (or 19?)?  Is there a huge difference in the levels of people who are diagnosed earlier or later in life? 
We've been able to get Amy's cholesterol under control with diet with a level of 10.  Does that make sense?  Will it become more difficult to control as she gets older and needs less fats for her body to grow?
Karen 


Mary Pruitt said:

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

[Mary Pruitt]

I will forward your message and hopefully have an answer for you soon! Thanks for asking such great questions!

[Mary Pruitt]

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 decrease in LAL leads to a build-up of fats called triglycerides and cholesterol esters (cholesterol ester is cholesterol which is linked to a fatty acid molecule)in the lysosomes of the cells. Because these fats get  ‘stuck’ in the lysosomes, the cells think that it is deficient in cholesterol and begin to make more of it. This leads to a build-up in fat in the liver as more cholesterol is made, and leads to a fatty and enlarged liver. Accumulating fat leads to liver damage and eventually cirrhosis. It is sometimes difficult with imaging studies such as an ultrasound to differentiate a fatty liver from someone who is overweight from someone who has CESD or Wolman’s. Livers of patients with CESD and Wolman’s may have an orange appearance because of the extra fat in the liver. A healthy, normal weight person should not have accumulation of fat and their liver will not have accumulation of fat on imaging studies as there is a balance in fat production, transport and use.

[Melissa Aguilar]

Thank you so much for sharing this information Mary - every little bit helps.  I am learning more and more as time passes by.

Mary Pruitt said:

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 decrease in LAL leads to a build-up of fats called triglycerides and cholesterol esters (cholesterol ester is cholesterol which is linked to a fatty acid molecule)in the lysosomes of the cells. Because these fats get  ‘stuck’ in the lysosomes, the cells think that it is deficient in cholesterol and begin to make more of it. This leads to a build-up in fat in the liver as more cholesterol is made, and leads to a fatty and enlarged liver. Accumulating fat leads to liver damage and eventually cirrhosis. It is sometimes difficult with imaging studies such as an ultrasound to differentiate a fatty liver from someone who is overweight from someone who has CESD or Wolman’s. Livers of patients with CESD and Wolman’s may have an orange appearance because of the extra fat in the liver. A healthy, normal weight person should not have accumulation of fat and their liver will not have accumulation of fat on imaging studies as there is a balance in fat production, transport and use.

[Melissa Aguilar]

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 the diet and will see what comes of it. As of now I am trying to treat the complictions arising from the CESD.

Sincerely,

Melissa