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Larsen’s Syndrome- Rare Connective Tissue Disorder
I have Larsen’s Syndrome due to mutated gene. Never diagnosed until son was born with same condition - only much worse! I had been denied genetic counseling by Obstetrician.
Larsen’s Syndrome was named by Dr. Loren Larsen, Pediatric Orthopedist, in 1950. He wrote about it that year & there have been a number of articles in Orthopedic journals since. However, we have never known a doctor who knew of it except the Pediatric Orthopedic Surgeon who had just begun practice in the Orlando, FL area & was asked to see our son in the NICU. He was taught about it during his residency at Vanderbilt.
Our son is now 43 yrs. old & has been trached his entire life due to tracheomalacia. He has also had many orthopedic surgeries.
The gene for this syndrome was isolated over 2 decades ago and info published in Orthopedic & Genetic related journals. I don’t understand why more physicians don’t know of it! Even I know others diagnosed with this terrible condition & their cases were published.
Last year I was given a death sentence after diagnosis with Cirrhosis of the Liver. I had no idea that the body is full of connective tissue! It seems that I will not be a candidate for transplantation. I & my family hope & pray that is not the case when the time comes. I am currently under the care of Hepatology, Oncology/
Hematology & Orthopedic
Surgery Services at the Jacksonville MAYO Clinic and pleased with the care.
I welcome any comments concerning these issues. Thanks in advance for your interest.
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@lsgm510 Hello and welcome to Connect. Connective tissue is the "glue" that holds everything together in our bodies and even bones are considered a type of connective tissue. It must be frustrating to have a rare disease that weakens connective tissue. I'm not sure why that would keep you from being a candidate for a liver transplant, and I'm not knowledgeable in this area. You may want to look at this discussion in the Transplant group where you can meet @rosemarya Rosemary, a mentor, who is very knowledgeable about liver transplants.
- This and That and Talk - My Transplant
https://connect.mayoclinic.org/discussion/this-and-that-and-talk-my-transpant/
I also found this information about Larsen Syndrome at the Rare Diseases website.
https://rarediseases.org/rare-diseases/larsen-syndrome/
I share your feelings about your care at Mayo. I was a Mayo patient for spine surgery, and later for a broken ankle and was quite impressed with the quality of my care. Having a relationship with expert doctors with whom you trust makes a big difference.
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4 ReactionsThank you for your message. Larsen’s is a horrible condition! But, so are many others.
I’m going to speak more specifically about the possibility of liver transplant when I see my Hepatologist later this month.
I will tell you that I believe in a great healer — our Jehovah-Rapha. This specific name for GOD means The God Who Healeth. HE can do that if it is His will. I also thank my Lord for giving doctors the intelligence and motivation to work so diligently to be His helping healers!
As for the website you mentioned, perhaps there is a way to share and I can tell other Larsen’s Syndrome persons to be screened. A week or so ago I came across a report by my Primary Care physician from 2014. The first diagnosis on my list was “Abnormal Liver Function Test”. However, she never mentioned it to my husband or me nor did she ever pursue the issue. That is mighty scary!
Thank you so much for your involvement in bringing people with these needs together to share information.
Linda Moores
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2 ReactionsI am 46 female and my genetics doctor thinks this is what I have based or FLNB and RYR1 gene mutations and symptoms. I to have develope progressive liver disease , I also have the MTHFR mutation and a few other genetic disorders which complicate treatment. We originally thought I had elhers danlos syndrome but we are in process of confirming the correct diagnosis.