share: Husband in coma after new diagnosis of OTC deficiency
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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Dear tinakraaima
Thank you so much for sharing your story and our hearts go out to you and your husband. This must have been an enormous shock to everyone.
I do hope your husband starts to see more and more improvement soon and it's great to see you doing activities with him that stimulate his brain and body.
I worked as a drama and recreational specialist for several years, including working with the mentally challenged, Alzheimer patients and those very near death (mostly in coma-like states).
There are some great things you can do. Please remember to consult his doctors before trying any of these ideas:
You already mentioned massage therapy - that is wonderful! Please keep that up! And keep up the music!
1. As well as a massager, use your hands for skin-to-skin contact and use a lightly scented essential oil that has natural scents like lilac, lavender, green tea etc. Do his hands, feet, his shoulders, his face. Whatever you are allowed to. Stimulate him with both touch and scent. Scent is really important. If you are allowed, give him a little splash of his favorite cologne every day.
2. Read to him - read and talk as much as you can. Read him the newspaper daily. Read about current events or things you know he has an interest in. keep bad news away, however, as much as you can. Talk to him about your collective memories. Your wedding day, your children or pets (if you have any), vacations or activities that will help trigger his memory bank and stimulate his brain.
3. What trinkets is your husband interested in? Tools, computer gadgets? Bring them in - run his hands over them, familiarize his surroundings with things he is used to and likes.
4. Do you have small pets? Try running his hands over their fur if you can bring them in. If not, many long term care facilities have a pet therapy program where trained animals come to provide comfort and stimulation for residents.
4. Comb his hair, cut his nails, keep up his grooming. Give him a manicure.
5. Exercise him! Lift up his arms and legs as best you can and repeat the motions several times throughout the day. Keep his blood circulating and his limbs moving.
6. Light therapy might be an option. Using what's known as a "light box" (something people with Seasonal Affective Disorder are given) to recreate being out in the sun and warmth.
7. Record greetings and news from his family and friends. Have them all talk to him and share their news and their wishes for him. Play these tapes to your husband so that he can hear familiar voices who care about him.
7. Contact the facilities Recreational/Activity Director and find out what they are doing. As part of their job, they must include your husband in stimulation activities unless the family objects. All activity departments must have what's known as a Plan of Care for your husband that correlates with the Plans of Care of other disciplines, with a list of objectives and goals, in terms of his stimulation. The must also create progress reports. Ask to look at it, give feedback and ask them for suggestions. They are there to help you!
I think you are doing a wonderful job, taking care of your husband. I understand stand your guilt of "leaving" him in a care facility but you are not "leaving" him. He has to be there to get the best treatment available.
Now onto you - how are YOU coping? Do you have a support network to help you? Family and friends to be there for you? Are you being given a break? This is not an easy time for you, as well as your husband. I'd like to put you in touch with Coma Recovery.org.
Contact them here:
8300 Republic Airport
Suite 106
Farmingdale
NY 11735
(631) 756-1826
www.comarecovery.org
They can provide support for you and put you in touch with a support group in your area. I think you'll get a great sense of relief talking with other wives and people who are going through the same thing.
Again, please talk to your husband's doctors before starting new stimulation idea for him (they may not want him moved at all, like 'exercising' his arms/legs) or one of the other suggestions.
I hope this information helps you and if I can help you in any other way, please let me know. Please stay in touch and keep us updated.
Our very best to you and your husband,
Susan
April 3, 2010 - 5:42amThis Comment
Susan, thank you so much for replying to my post. You have given me some great suggestions. His doctors are willing to try anything such as getting him up to a chair, I have been doing range of motion with him daily, I have been using massage oils and lotions. I am going to try to take him outside today. The weather has been terrible (we live in Utah) but they have a covered patio. I would like to see what having the cool air hit his face would do for him. Thankyou so much for the support group info. I will definitely contact them! I do have family who is willing to give me breaks, but I feel like I am the only one who is not afraid to actually get in there and touch, maneuver, suctions, etc. My insurance will only cover 60 days in a long term care facility so I feel like I am on a time crunch to achieve as much as possible in that time. I am on half FMLA from my job. I teach nursing for a nearby university. I will incorporate your ideas (all except the pet therapy, we are not pet people!) (smile), and again appreciate your suggestions.
April 3, 2010 - 8:16amTina
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
Thank you so much Pat. I will definitely get in contact with them.
April 3, 2010 - 7:50pmTina
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
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
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
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.
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May 13, 2010 - 12:29pmOh, by the way, I was given steroids as well.
May 13, 2010 - 1:00pmI 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 - 1:22pm