Diagnosis

[Mary Pruitt]

If you feel comfortable sharing, we would love to know how you or your family member was diagnosed with LAL Deficiency...either Wolman's Disease or CESD?

[Karen deJong]

Allo,  here is my attempt at commenting on diagnosis. 
We have read that it is very difficult to diagnose CESD.  In our experience getting the diagnosis wasn't as drawn out as we thought it would be.  The doctors' initial reaction was that it was a storage disease, it was just a matter of finding out which one.  All of her blood tests were done within a 2-3 week span...  until the acid lipase test  (2-3months).  We didn't know it then, but I think her doctor was pretty sure that he had the right answer.  The acid lipase test took loooong.  I think that was the hardest part (so far) just not knowing and doubting, but knowing something is wrong- if that makes sense.
The symptoms of CESD were- large liver, high cholesterol, and slightly elevated platelets and liver enzymes.
Other than that Amy is a healthy little girl.  (she needs to grow some hair tho :) )  She gets sick easier than my other kids, but is still smiley, fun loving, and ready for her terrible twos.  I pray that she stays relatively healthy for as long as possible.
Karen

[Margi moakes]

Getting Lili diagnosed with Wolmans disease was a very long hard drawn out process. Lili was vomiting from about 5weeks old, doctors just passed it off as a virus and then a tummy bug followed by a milk intolerance. Her tummy got bigger and bigger and doctors said that she was just a chubby baby and it was normal. This went on for 6 months. Finally she had a scan, it showed she had an enlarged liver and spleen. From that day things moved much quicker. After lots of test, and 2 different hospitals Lili was finally diagnosed with Wolmans disease at the age if 7 and 1/2 months. She passed away 1 month later. Doctors did not know what they were looking for and also never listened to me. I knew that my little girl was poorly. The process was so hard.

[KAMRAN KALATY]

Our story starts when my wife was 7 months pregnant with Sarina and the Sonogram tech found her adrenals to be prominent.  After a fetal MRI, they passed it off as probably being nothing but to check it out again after baby is born.  On September 10, 2008, Sarina was born.  A couple of days later they did a sonogram on her.  And a few days after that,  I got a call from my wife at work that the Sono tech spoke to the pediatrician and that they are suspecting Wolman's disease.  My wife had no clue what that was.  So I googled it and there I saw the most alarming news- infant will likely die within first year of life and that it is mostly seen in Persian Jewish communities (which is what we are).  After meeting with Genetic doc and some research, we made the decision to move from our home in Long Island, NY to Minneapolis to treat Sarina with a bone marrow transplant.  

[Karen deJong]

Thankyou for sharing your story.  I am sorry for your loss.  I had no idea that the doctors could tell anything before birth or that it would affect a baby then- the mother's enzyme doesn't work for baby?.  Amy's tummy was flat at birth

KAMRAN KALATY said:

Our story starts when my wife was 7 months pregnant with Sarina and the Sonogram tech found her adrenals to be prominent.  After a fetal MRI, they passed it off as probably being nothing but to check it out again after baby is born.  On September 10, 2008, Sarina was born.  A couple of days later they did a sonogram on her.  And a few days after that,  I got a call from my wife at work that the Sono tech spoke to the pediatrician and that they are suspecting Wolman's disease.  My wife had no clue what that was.  So I googled it and there I saw the most alarming news- infant will likely die within first year of life and that it is mostly seen in Persian Jewish communities (which is what we are).  After meeting with Genetic doc and some research, we made the decision to move from our home in Long Island, NY to Minneapolis to treat Sarina with a bone marrow transplant.  

[KAMRAN KALATY]

Karen, the baby didn't have any exterior symptoms.  She was healthy except for the symptom of the calcified adrenals.

Karen deJong said:

Thankyou for sharing your story.  I am sorry for your loss.  I had no idea that the doctors could tell anything before birth or that it would affect a baby then- the mother's enzyme doesn't work for baby?.  Amy's tummy was flat at birth

KAMRAN KALATY said:

Our story starts when my wife was 7 months pregnant with Sarina and the Sonogram tech found her adrenals to be prominent.  After a fetal MRI, they passed it off as probably being nothing but to check it out again after baby is born.  On September 10, 2008, Sarina was born.  A couple of days later they did a sonogram on her.  And a few days after that,  I got a call from my wife at work that the Sono tech spoke to the pediatrician and that they are suspecting Wolman's disease.  My wife had no clue what that was.  So I googled it and there I saw the most alarming news- infant will likely die within first year of life and that it is mostly seen in Persian Jewish communities (which is what we are).  After meeting with Genetic doc and some research, we made the decision to move from our home in Long Island, NY to Minneapolis to treat Sarina with a bone marrow transplant.  

[Melissa Aguilar]

I am what you would consider lucky. I got diagnosed with LAL Deficiency about 2-3 weeks ago.  I am 31 years old and have non-alcoholic fatty liver disease.  I have no gallbladder, appendix or uterus.  I also have anemia and my triglycerides are high.  When I found out I felt like the whole world came down on me but then I could explain why certain things were happening.  My story is miniscule in comparison to everyone else's.  I am heartbroken for everyone's loss and as a mother can't even imagine the feeling of loosing a child.  I want you to know that my thoughts and prayers are with everyone and I am happy to join this community of support as I myself try to find more about this disease. 

God Bless you all!.