Welcome to Our Community

LAL SOLACE (Support Organization for Lysosomal Acid Lipase Deficiency - Advocacy, Care and Expertise) was created to bring LAL Deficiency patients and families together to share experiences, knowledge and compassion. 

Meet our Moderator

Brett Billmeyer

I have been diagnosed with LAL Deficiency in 2009.  I have been participating in the Sebelipase Alfa clinical trial since 2011. I am always willing to share my experience with LAL Deficiency and the clinical trial.  Do not hesitate to contact me with questions.  

Never Give Up!  

Meet our Medical Advisor

Dr. Porto

Dr. Anthony Porto is a pediatric gastro-enterologist and hepatologist at Yale University. Feel free to ask him questions regarding LAL Deficiency: anthony.porto@yale.edu

Latest Activity

Heather Ryan is now a member of LAL Solace Patient Community
Dec 11
Profile IconAdam and Mikio Zeniya joined LAL Solace Patient Community
Dec 4
William Peterson posted a status
"http://teslacommunity.com/profiles/blogs/rihanna-nude / rihanna fakes,rihanna nude,rihanna fakes…"
Dec 1
Brett Billmeyer left a comment for Sara Salinas
"Hi Sara, Thanks for the feedback. He was approved as a member earlier today. I was hesitant to accept his membership for a few reasons,but approved him for now. I was advised that he sent out spam messages, so I deleted his membership a short time…"
Nov 25

Blog Posts

Rare Disease Day...Getting the Word Out!

Posted by Mary Pruitt on February 23, 2012 at 12:41pm 0 Comments

Next week, on February 29 it will be Rare Disease Day! A day to recognize those of us who have been touched by a rare disease. And with LAL Deficiency, we certainly quality for a rare disease! Our Board will be traveling to Washington D.C. for Rare Disease Day events. There will be a day for patient groups at the National Institute of Health and a day at the FDA to discuss what has been going on in terms of research and treatments for rare diseases. I just wanted to share some facts about…

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WORLD Symposium 2012

Posted by Mary Pruitt on February 23, 2012 at 12:00pm 0 Comments

Two weeks ago, Stephanie Dykes, Dakota's mom and our Board's secretary, and I travelled to San Diego for the WORLD Symposium. This was a conference dedicated to Lysosomal Diseases, such as Wolman's Disease and CESD. It was a gathering of medical professionals, scientists and patient advocacy organizations, such as LAL Solace. Stephanie and I were able to meet so many wonderful people who are working to raise awareness and treat these diseases. We listened to speakers discussing the LAL…

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New to LAL Solace

Posted by Shawn Agnew on August 19, 2011 at 5:17pm 3 Comments

All,

We are the parents of a CESD patient. Our oldest daughter, Maureen, was diagnosed with CESD when she was 5 years old. She is now 14 and we are glad to hear about information being shared on this website. We knew about the disease and it's complications from our daughters specialist at Childrens Hospital in Philadelphia but now can share with others in a similar situation. We also have 3 other daughters that are unaffected by the disease (they don't have it nor do they have the…

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my son

Posted by jessica nelson on August 9, 2011 at 5:00pm 2 Comments

im jessica  i lost my son in 2009 to wolmans at 4months and 20 days.. we didnt fine out he was sick till he was 2months it suck to lose a baby at 18 i didnt want that to help to me or my family is all i had no baby daddy, when my son got worse i didnt know what to do i was always in the hospital wit me till the day he passed i held him in my arms he passed in them till this day i still see him dieing in my arms..
 

Latest News

ROBERT J. DESNICK, M.D., Ph.D. JOINS THE LAL SOLACE BOARD:


It is my pleasure to introduce a pioneer in the study of lysosomal storage diseases like lysosomal acid lipase deficiency (cholesterol ester storage disease and Wolman's Disease).  Dr. Desnick will be a medical consultant to LAL Solace and Scientific Advisor.  I have had the privilege of meeting Dr. Desnick while being treated at Mount Sinai School of Medicine.  He is a great doctor and friend.  A little bit of his impressive background is listed in the following paragraph.  

Dr. Robert J. Desnick, M.D., Ph.D. serves as Scientific & Corporate Advisor at Synageva BioPharma Corp. Dr. Desnick serves as Dean for Genetics and Genomic Medicine at Mount Sinai Medical Center, Inc. He is a key clinical thought leader in lysosomal storage diseases. He is a Professor and Chairman of Department of Human Genetics, and Chief of Medical and Molecular Genetics, Department of Pediatrics, MountSinai School of Medicine. Dr. Desnick Founded Amicus Therapeutics, Inc., and served as its Chairman of the Scientific Advisory Board. Dr. Desnick is an Editorial Board Member of several journals including American Journal of Human Genetics, Journal of Clinical Investigation, American Journal of Medical Genetics, Enzyme, Journal of Inherited Metabolic Diseases, Molecular Genetics and Metabolism, Journal of Human Genetics and Human Genome. He is a Member of numerous scientific societies, including the American Society for Clinical Investigation, and the American Association of Physicians. He served as the President of the Society for Inherited Metabolic Diseases and for 5th International Congress on Inborn Errors of Metabolism. He has served on NIH Study Sections. He is a Member of the NIH National Advisory Council for the National Center for Research Resources. He Founded the Association of Professors of Human and Medical Genetics and served as its President. He also serves as a Director of the Center for Jewish Genetic Diseases and the Institute for Genomic Sciences at Mount Sinai. Dr. Desnick is a Professor and Chairman for Dept of Human Genetics, Mount Sinai School of Medicine. He served as a Director of the Administrative Board of the Council of Academic Societies of the American Association of Medical Colleges. He has published over 480 research publications and nine edited books. He is a Fellow of the American Academy for the Advancement of Science, and a member of the Institute of Medicine of the National Academy of Sciences. He was the recipient of various fellowships and awards, including the Ross Award in Pediatric Research, the E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, an NIH Research Career Development Award, an NIH MERIT Award, and the Mount Sinai Outstanding Faculty Award. Dr. Desnick received his B.A., Ph.D., and M.D. degrees from the University of Minnesota.

Thank you Dr. Desnick.  LAL Solace is lucky to have you as part of our board.  I look forward to working with you more often in the future.  

Subject: LAL D Study Opportunity with Honorarium (60 minutes over telephone) LAL Solace is partnering with Trinity Partners, a global life sciences consulting firm (www.trinitypartners.com), to provide an opportunity for LAL Solace community members to participate in a study for LAL D patients and their caregivers. The aim of this research is to better understand the LAL D patient experience, from symptom onset through to diagnosis, treatment, and on-going management, to elucidate the unmet needs for this disease and to improve treatment of LAL D. All information discussed will be kept confidential and no identifying information will be shared with other parties. The interview will be conducted via telephone and will last 60 minutes. Compensation of $100 will be provided for your time. Study Enrollment Criteria: 1. Patients or caregivers of patients (if patient is under the age of 18) who currently have or have had LAL D (Wolman Disease or Cholesteryl Ester Storage Disease) 2. Patients or caregivers from the US, UK, Italy, Spain, France, Germany, or Belgium If you are interested in participating in this research, and meet the study enrollment criteria, please contact Victor Kang (mailto:vkang@trinitypartners.com) to schedule an interview time. Interviews will be conducted between October 1st and October 30th 2014. Thank you in advance for your consideration, and we are looking forward to hearing from you. Warm regards, Brett

LAL Solace is a non-profit organization who supports those who are affected by Lysosomal Acid Lipase Deficiency. We educate others on the signs, symptoms and important information about what to look for during a diagnosis. Lysosomal Acid Lipase Deficiency is severely under diagnosed. We work with the medical community to help provide the information to help those who would otherwise be misdiagnosed with elevated cholesterol only. LAL Solace does not have any paid board members. All donations go directly to helping those affected by LAL Deficiency and for education. Please consider donating. No amount is too small. Payments accepted through paypal.

PayPal Acceptance Mark



Lysosomal Disease Network WORLD Symposium

Thanks to those of you who have requested and sold the LAL Solace bracelets. I have placed an order for additional bracelets. If you are willing to attempt to sell some of them let me know and I will get them in the mail to you. The minimum requested donation per bracelet is $5.00. Some have been getting more for them. These bracelets are an excellent opportunity to raise awareness about LAL Deficiency.

Lysosomal Acid Lipase (LAL) Deficiency Registry There is currently a study that is recruiting participants who are affected with LAL Deficiency which is sponsored by Synageva BioPharma Corp. The information that is collected from those of us that are affected with LAL Deficiency will help gather important information that will benefit all of us. Participation in the study involves a couple of quick phone calls. The small amount of time that you spend on the phone will help tremendously. Please consider participating in this trial. Additional information can be found at the ClinicalTrials.gov website. Identifier: NCT01633489 LAL Deficiency Clinical Trial Website You can also contact me if you have any questions about the trial. I am a participant which only took a few minutes of my time. This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency and carriers of the disorder. Participation in the Registry by both physicians and patients is voluntary. Prospective and retrospective data will be collected; data will be de-identified. Demographic, socioeconomic, clinical, and treatment data, or those deemed relevant to the management of eligible patients will be submitted to the Registry based on routine clinical practice, as determined by the patient's physician. The objective of the LAL Deficiency Registry is to use uniform methodology to collect longitudinal data over an extended period to provide information to: Further understand the disease, its progression and any associated complications. Evaluate the long-term effectiveness of therapeutic and supportive interventions. Improve care through evidence-based patient management. Understand the relationship between LAL Deficiency and access to care. Condition Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Wolman Disease Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Acid Lipase Deficiency LIPA Deficiency Official Title: An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency (Wolman Disease and Cholesteryl Ester Storage Disease) and Carriers of the Disorder. Primary Outcome Measures: Understanding of the variability, progression, identification and natural history of LAL Deficiency. Carriers are considered those with evidence of at least one mutation in the LIPA gene, or those that have an affected parent or child diagnosed with LAL Deficiency. Contact: Synageva help@laldeficiencyregistry.com

TODAY IS RARE DISEASE DAY

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world event, with over 70 countries participating in 2013. We hope many more will join in 2014. Our objective is for the WHO to recognise the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.

The important part of rare disease day is to increase awarenss for rare diseases worldwide. I would like to offer our members one of our LAL Solace Bracelets. If you are interested in obtaining one or two, leave me an email with your address. If you are interested in selling some to raise money for LAL Solace, let me know and I will send you how many you think that you can sell. Minimum donation for each bracelet is $5.00.

 

 

I would like to welcome all of our new members to LAL Solace. If the weather in your area is anything like it is in Minnesota, I feel for you. I woke up to a balmy -19 degrees this morning. I am looking forward to spring.

 

If you have any questions that I may be able to answer, send them my way. If I am not able to answer them for you, we have plenty of resources who more than likely will have the answer. Thank you to everyone who is part of our website, especially those medical professionals who are taking the time to learn more about LAL Deficiency.

LAL Solace continues to grow since our inception a few years ago. We are always looking for members who may have a specialty that is willing to help out. If you or someone you know has a special skill that can help, that would be appreciated. We are looking for those who have experience in grant writing, fundraising, accounting, social media, etc. Our goal is to continue to grow so we can help advocate for those who are affected by LAL Deficiency. If you have the time and are able to help, please let me know.

Please check out our LAL Solace Facebook Page. Those of you with Facebook accounts, I invite you to join our page.

 

LAL Solace Facebook Page

Click on the above to be linked to our page.

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LAL Solace is a non-profit organization who supports those who are affected by Lysosomal Acid Lipase Deficiency. We educate others on the signs, symptoms and important information about what to look for during a diagnosis. Lysosomal Acid Lipase Deficiency is severely under diagnosed. We work with the medical community to help provide the information to help those who would otherwise be misdiagnosed with elevated cholesterol only. LAL Solace does not have any paid board members. All donations go directly to helping those affected by LAL Deficiency and for education. Please consider donating. No amount is too small. Payments accepted through paypal.

PayPal Acceptance Mark



Lysosomal Disease Network WORLD Symposium

LAL Solace was represented at the LDN World Symposium at the Manchester Grand Hyatt in San Diego, CA on February 10-13.  

This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest  discoveries in the management and treatment of lysosomal diseases, as well as the clinical investigation of these advances. 

 

At the conference, data was presented about Sebelipase alfa which continues to improve disease abnormalities at 90 weeks from the ongoing Phase 1/2 trial in adults with LAL Deficiency.

Chester B. Whitley, PhD, MD provided an update from six adult patients treated with sebelipase alfa at 90 weeks. Patients continued to demonstrate sustained reductions in the biomarkers of liver damage (both ALT and AST), frequently into the normal range, from the pre-treatment baseline. In addition, sebelipase alfa maintained improvements in dyslipidemia associated with LAL Deficiency, with decreases in LDL and triglycerides and increases in HDL from the pre-treatment baseline to week 90 of the extension study.   

LAL Solace was able to network with several other patient advocate groups which will help us educate others and identify new patients. 

 

Would any patients or families be willing to share their stories with this wonderful organization? We are going to be teaming up with RareConnect in 2014!

https://www.rareconnect.org/en
We would love to have YOUR stories to share on our page that will be on this site!

A GREAT New Resource for all our LAL Deficiency questions! Check it out!

http://www.laldeficiencysource.com/

 

Gage's article in the Washington Post!

 

***A NEW CLINICAL TRIAL FOR LATE ONSET LAL DEFICIENCY***

Synageva BioPharma Corp. has begun the ARISE Phase 3 clinical trial for late onset Lysosomal Acid Lipase (LAL) Deficiency/Cholesteryl Ester Storage Disease (CESD).

The ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) clinical trial will evaluate the safety and efficacy of sebelipase alfa (SBC-102).  Patients, age 4 and over, diagnosed with LAL Deficiency, may be eligible for enrollment.

Additional information on this trial and a list of participating trial sites may be found at http://www.clinicaltrials.gov/ct2/show/NCT01757184 or by contacting Synageva directly at clinicaltrials@synageva.com. 

This is OUR Episode! I was able to go on Lifetime and talk about LAL Deficiency! Take a few minutes to watch!

Click here to watch!

You NOW can see LALSolace in YOUR language! Check out the bottom of the page for our new translation service!

 

**New Clinical Trial Info for Wolman's Disease**

Please check out the link above to find out more about the CLINICAL TRIAL for early onset Lysosomal Acid Lipase Deficiency...also known as Wolman's Disease!!!!

 

*Additional information about clinical trials can be found through the LAL Solace Clinical Trials Resource Center

http://www.centerwatch.com/ctrc/LalSolaceOrg/

 

New INFO Posted on Getting Tested for LAL Deficiency! Look under the "Clinical Trials" Tab

 

ATTENTION PERSIAN JEWISH COMMUNITY!  If you or someone you know are part of the Persian Jewish Community, we desperately need your help! Please help us by taking part or sharing this survey. It will only take a few minutes and the information gathered is invaluable. Every little bit of information we gather will be used to further advance the research and treatment of Wolman's Disease and Cholesterol Ester Storage Disease. We are counting on you! Please click on this link: Survey Regarding Genetic Issues in Persian Jewish Community

 

 

 

 

 

 

 

 

Forum

LAL D Study Opportunity with Honorarium (60 minutes over telephone)

Started by Brett Billmeyer. Last reply by Brett Billmeyer Sep 24. 1 Reply

Subject: LAL D Study Opportunity with Honorarium (60 minutes over telephone)   LAL Solace is partnering with Trinity Partners, a global life sciences consulting firm (www.trinitypartners.com), to provide…Continue

LALD and Alopecia

Started by Daniel Massello. Last reply by Holly Hume Jul 25. 3 Replies

Has anyone had any side affects yet? I now have Alopecia Universalis where I've list all body hair....anyone think this is just a coincidence?DanContinue

Bracelets and Brochures

Started by Mary Pruitt. Last reply by Daniel Massello Apr 6. 1 Reply

We still have plenty of bracelets to give away. We also have brochures now if anyone is interested in receiving one. You can message me your address and I will be happy to mail it to you. Let's spread awareness for LAL Deficiency! Continue

February 28th is Rare Disease Awareness Day

Started by Brett Billmeyer. Last reply by Veronica English Feb 28. 1 Reply

TODAY IS RARE DISEASE DAYRare Disease Day is an annual, awareness-raising…Continue

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