My husband has a history of sarcoidosis in which he was basically asymtomatic except for a cough. On his last CT scan, the nodules on his lungs were larger, so he and the physician decided to start him on prednisone 40mg daily. The same day, he also recieved a Lupron shot to postpone a prostatectomy for 2 months and given a two week prescription for androgens to counteract the Lupron "flash". Nine days after starting the steroids, he became confused and "acting wierd". I am a nurse and I suspected steroid psychosis and took him the the ER. His ammonia levels were over 300 and by now he did not know who I was and was acting agitated. In 3 hours his ammonia levels were over 400. My husband is not a drinker and his other liver function tests were normal. Despite Lactalose, the ammonia levels would not come down, and within a few more hours he was in a coma. This was over 7 weeks ago. He was lifeflighted to the University of Utah Medical Center and we were fortunate enough to have a doctor who had heard of cases where ammonia levels were very elevated with no other liver involvement. He said he needed to talk to a pediatric metabolic geneticist who just happened to work there. My husband was diagnosed with OTC deficiency, a very rare metabolic disease which is carried on the X chromosome and affects mostly males. Interestingly, 20 years ago, he had a brother die at the age of 25 of the exact sequence of symptoms. Back then, they diagnosed him with Reye's Syndrome. The doctors now say that they are positive he had the same genetic disease. In my husband's case, as well as his brother's, the use of steroids raised their metabolic level to a high metabolic state. Because he didn't have the nutritional support to fuel it, he was thrown into a catabolic state in which his body started burning his muscle, or protien which drove his ammonia levels to dangerously high numbers. OTC deficiency is controlled with a high carb, high fat, low protien diet and several medications that replace the amino acids that are responsible for the urea nitrogen cycle. The high ammonia levels were finally under control after dialysis, proper nutrition via TPN, and Lactalose. However, my husband has remained in a coma for the past 7 1/2 weeks. His MRI shows some atrophy of the brain, and there are some areas that show up brighter than normal which were affected by the ammonia. His prognosis is unknown. Because the neurologists have not seen this combination of events, they have no idea how much of the brain damage is reversable. He has now been moved to an LTAC unit in a long term care facility. This is killing me because I swore I would never put my parents in a long term care facility never mind my 51 year old husband. He has a tracheostomy, is breathing on his own, but does not open his eyes except briefly when startled like when we move him. I have been playing music through an IPOD, using a massager, and talk to him. I need help with ideas of what else I can do to stimulate his brain.
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Hello, my name is Jordan smith im a nineteen year old female. I was eighteen years old after giving birth to my daughter I had fallen into a coma. The last thing I remembered was kissing my son goodnight. My mom and husband told me that I had become incoherent. I was fine until someone touched me then I got violent. They ran millions of tests and finally diagnosed me with OTC. I just have a question because I haven't received any treatment. And no one has fully talked to me about it. They have just told me that it can happen again. I was wondering if having another baby could put me in that situation again? I know high stress levels cause it, and I just want to know what to do. I am terribly sorry for your loss and what you had to go through. I would like to just learn more about this so I can take the best possible steps for myself.
February 4, 2015 - 12:03pmThis Comment
I have OTC and live in utah and have been under treatment from doctors at the U of U and i Have a new one right now and is really good i was in a coma at one time and was just hospitalized recently due to high ammonia levels and i was diagnosed at 7 and am married now and am 34 years old and would love to get your email address and chat with you I have been hospitalized over the years alot and only went into coma twice and they now have me on a new medication that seems to be working wonderfully.
January 2, 2012 - 12:41amThis Comment
Thank you so much for responding. Unfortunately, my husband passed away from complications of his OTC deficiency in May of 2010. He remained in his coma for 3 1/2 months and never came out of it. We finally had to make the decision to let him go. I will say that the experience taught me a lot about the disease and the devastating effects it can have. My husband had some other factors that I believe made the difference in his lack of recovery. He had been diagnosed with prostate cancer a few months earlier and had received a Lupron shop and then was on Androgens to counteract the "flashes" caused by the Lupron. He also had sarcoidosis of the lungs that once they did an MRI about 3 weeks into the coma (he had a bolt in his head up until then to measure ICP), there was also signs of neuro-sarcoid. What we at least know now is that the disease exists within the family and now we can watch for future generations to show symptoms. I am so happy that you are doing well in managing your disease. I wish you the best.
January 3, 2012 - 11:05pmThis Comment
I have OTC partial. When I was in early 20's someone gave me a steroid shot that made me feel weird. After that I refused them. However I was not properly diagnosed until 2004. Now I have collateral damage of lots of things with it. I have been in a brief coma of about 12 hours.--oddly they had called family in on that one. Ammonia did not rise until day after when was in regular room with no drip. Once I had the IV drip was ok.
I cannot begin to feel your nightmare. I send prayers to you. I hope there was something good that happened. I can't work now with mine. I have light brain damage. Is interesting.
January 17, 2011 - 1:22pmThis Comment
Reading your post was hauntingly familiar... The same thing happened to me a year ago (May 2009)... Same symptoms, and ammonia level over 600. I was in a coma for five days. I was also diagnosed with OTC Deficiency, and had a brother who passed away too early (14 years old) with the same symptoms. Fortunately, I live close to Johns Hopkins Hospital, where I was treated for 43 days. They have wonderful doctors there. I saw a post about contacting a Pediatric Geneticist, and that makes sense. I was primarily treated by Dr. David Valle.
(Personal email address removed by EmpowHER Moderator. To protect the privacy of members we encourage the use of public comments or the email system provided by the site.)
May 13, 2010 - 12:29pmThis Comment
Oh, by the way, I was given steroids as well.
May 13, 2010 - 1:00pmThis Comment
Hi Tina,
I saw your post about your husband and am writing to offer the help and support of our urea cycle disorder community. Your husband's case is unfortunately classic for adult-onset ornithine transcarbamylase deficiency. You are not alone -- I would be happy to talk with you, answer your questions about the disorder, and provide you with information and resources. My family is also affected by OTC deficiency, and I have been involved with the National Urea Cycle Disorders Foundation on a mission to end the catastrophic effects of this disorder since 1994.
We are here for you. Please contact me at CureUCD(at)nucdf(dot)org, and feel free to visit our website at www(dot)nucdf(dot)org. My thoughts and prayers are with you and your husband.
Best regards,
April 4, 2010 - 6:05pmCynthia Le Mons
Executive Director
National Urea Cycle Disorders Foundation
75 S. Grand Ave.
Pasadena, CA
Phone: (626)578-0833
Email: CureUCD(at)nucdf(dot)org
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Cynthia, thank you so much for your response. I would love to be involved in the National Urea Cycle Disorders Foundation. This has been such a devastating event for our family that I would like to help in any way I can to keep others from having to go through this. I would like to know the long term prognosis for adults who lived through this. We seem to have the metabolic condition under control, but no one seems to know how much of the brain damage is reversable. The doctors are not used to working with a brain that has been affected by such high ammonia levels. They are really not able to give me any kind of prognosis. Can you tell me what you know? My husband's brother died of this (so we know now) 20 years ago because they didn't know what it was and never even checked ammonia levels. He has a cousin that we didn't know about who lost 2 brothers to this, and he and his other brother have it but it is under control. I guess I am looking for some hope. He has been in a coma for almost 8 weeks now. I would appreciate anything you can tell me.
April 4, 2010 - 7:50pmTina
This Comment
Hi Tina,
It would be a privilege to talk with you and help in any way I can. It is hard for me to give you any intelligent answer regarding the extent of his brain injury and prognosis without knowing many more details. Could you please email me your phone number and I will call you, or please call me at (626)578-0833. If necessary, we can also bring one of our experts in the neurological effects of UCD to consult with your team in Utah so that everything possible is being done to help your husband.
Best,
April 5, 2010 - 8:07amCindy
Cynthia Le Mons
Executive Director
National Urea Cycle Disorders Foundation
75 S. Grand Ave.
Pasadena, CA 91105
(626)578-0833
www(dot)nucdf(dot)org
Email: CureUCD(at)nucdf(dot)org
This Comment
Hi Tina - I'm sorry to learn of your situation, and appreciate the challenges you're having with getting assistance from others. The Brain Injury Association of Utah may be a good resource for you, and I wanted to provide you with their contact information and wish you well. Pat
Brain Injury Association of Utah
1800 Southwest Temple
Salt Lake City, UT 84115-5819
(801) 484-2240 or 1-800-281-8442
Fax: 801-484-5932
http://www.biau.org/
A Message from the Brain Injury Association of Utah
People who have suddenly become involved with traumatic brain injury often wonder where they can find someone who can tell them what to expect. Some fear they may not be getting candid answers and others hesitate to ask questions due to their concern over the answers they receive. The simple truth is that no one can accurately predict all eventual outcomes. This leaves family members, as well as those who have been injured, perched somewhere between high hopes and deep despair.
The Brain Injury Association of Utah (BIAU) is always available to assist people who have these concerns. The BIAU has members throughout the state, many of whom have experienced every conceivable kind of frustration and uncertainty. Call the BIAU office. We'll help you make connections with people who can make the difference.
Utah Medical Home LInk:
http://www.biau.org/res/res_utahmedhome.html
Utah State Resources and Links:
http://www.biau.org/res/res_utahstate.html
Family Facts and Resources:
April 3, 2010 - 5:54pmhttp://www.biau.org/res/res_families.html
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