Hi, Its so great to talk to someone who knows what I am talking about! Have you run into other people with Wolmans or CESD? Is Wolman's more common than CESD? I have heard that there have only been 40 recorded cases of CESD, but they also talk about 1/million cases. If so, where is everybody? Do you have other healthy children? I have 2. One is 4 and one is 5. But I would really like them tested yet as CESD can present itself until adulthood (?) Do you know if you have one child with either Wolmans or CESD, if you have any future children- would they be at risk for the same level of LAL defficency? Or could it be higher or lower- say if you had a child with Wolman's -could you have another child with later onset CESD -or if you have an earlier onset CESD, would I need to worry about my other 2 kids having a later onset of the disease. Have you heard anything about prognosis? All I have heard is that it depends- not too helpful. Amy was only diagnosed a couple of weeks ago, so it is still all new for us. It feels like a huge learning curve. Its been a challenge to put her on a low fat/ cholesterol diet and keep the rest of my family happy too without making her all seperate meals. Oh well, the low fat should be good for all of us right :) Sorry for posting so many questions...
Thank you for your message. It is nice to have contact with others that know what we have been through. Lili had a bone marrow transplant but she was just too poorly to get through the treatment. She lost her battle 5days after her transplant, complications of the treatment. She developed VOD . I really hope the new trials work, dr Quinn is working with the doctor that treated Lili in the UK. I met with Dr Quinn last year, it was him who passed the details of your site to me. I have a healthy little boy Jenson now. I went through PGD IVF treatment to have him.
Hi Mary, I just had to share. I went to visit my 45 year old cousin and he pulls me to the side and said: "Listen, I wrote to a doctor about your disease and I they wrote me back". I was so touched I started crying of course. It meant a lot that he went out of his way to do this for me. He then told me don't worry about it, we just have to keep going. So then he tells me I have been doing research on this and I start telling him about the support group I joined called LAL Solace and he said oh with Mary Pruitt and I said yes! He saw your video on FB and that helped educate him and become aware of this disease and I just want to thank you for helping us out and giving us a place to turn to. It is hard not having anyone to talk to about this but when I come on this page and see all the information and everyone sharing their stories, I feel so at peace, loved and supported. Blessings to you and your family Mary for what you are doing for the LAL Community.
Hi. Well i will start form the beginning. My son is Tristan he is 6 years old. In August of 2011 we went to the doc for constipation did some xrays found out his liver was enlarged. They recommend me to go see a GI doc that works for Women and Children's hospital of Buffalo NY. They did tons of blood work and sonograms and then decided on Feb 8 of 2012 to do a liver biopsy. When we went to get the results in March he told us it could be a few different thing's and recommended me to go see the Hospital genetic doctor, also that he had stage 2 scaring on his liver already! The doctor we now see works at Women and childrens hospital his name is Dr. Erbe in the genetic department. We did some more blood work to try to narrow it down. He then decided in July to do a test not sure what it was called. I know it was sent to Massachusetts general hospital Dna diagnostic lab. We had are appointment yesterday Oct 10 and he told us he did have CESD. On the interpretation on the lab results it did say late onset of CESD and early onset of wolman's. The results said on the paper LAL (lipa) <0.02 nM/punch*hr that was his result normal range on that would be 79.9-378.6 nM/punch*hr. His was very low. the doctor then told us we would have to do treatment for this.
I do have questions about this, more specifically about the treatments out there for it? Like side effects and i know there is no cure out there for it but if he does get treatments will he be ok? I do have more but i will write back when i figure them out. I also have two other children they are 2 1/2 and 3 months old. They told me i might have to have them tested to to make sure they dont have it to. Thank you so much i do appreciate all the help and support, it is just so overwhelming at this time i just dont know what to do i just wanna cry but i know i have to be strong for him. Thank you once again
Hi Mary, its so nice to be able to get in touch with you. I have many questions to ask you I was hoping you could help me. Brittany;s Grandfather and I are tying to help her, but do not have any resources. She is doing well, she will see her doctor in April, to see what her next step is. She is working part-time because she gets very tired easily even a part-time job wipes her out. She wanted to go to cosmetology school but cannot afford to pay for it and the only grants we can find will only pay for school if she goes full time and she has to work to pay for her health insurance which is a joke and bases her benefits on her father's salary. Medicaide said she is not eligible until she is 21 years old and struggles to pay for her $500 per month premiums. Due to the LAL and the fact that she is always tired, it is becoming harder for her to continue working even part time.
I guess what we are looking for is some guidance. Are you aware of any resources that might be able to help us? My husband is trying to find grants to apply for which might pay for her school and health insurance. We thought of you and were hoping that through your network of contacts, that you might know somewhere for us to look.
I will e-mail you my phone number (I don't know how secure this site is) so that when you get a chance you can call me. I would really like to speak to you about all of this and I am looking forward to hearing from you.
I also hope that the issues you mentioned are resolved and everyone is well.
As part of our ongoing work on Lysosomal Acid Lipase Deficiency (LAL D) Respondent Journey, Market Vision Research is working with Field Global to conduct research about how LAL D impacts patient’s life and how patient’s feel about the medical treatment for this condition. We are interested in patient’s opinions for “LAL D Respondent Journey” for research purpose only. I would like to reassure you that this study satisfies all requirements for a bona fide market research study; there will be absolutely no sales or promotion activities during or resulting from the discussion.
Please help us in this initiative to learn and evolve into a new & advanced medication which can drastically transform the lives of the diagnosed LAL D patients.
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Patients would be provided with a token of 140 USD for successful interview through telephone.