Urea Cycle Disorders – The hidden danger

My story is below and I found out about Urea Cycle Disorders and I wanted to tell you about my twenty five year old fiancé.  From what I understand, Baylor University, the Mayo Clinic in Minnesota and a university in California have all been involved in studying cultures provided by Good Samaritan Hospital in Phoenix for Joseph Patrick Phillips.  Would you please help me to crusade against it happening to others.  Your reply would be deeply appreciated.

My name is Amber and I’m twenty-four years old.  I have a story to tell that I hope might help to save thousand of lives in the future.  My fiancé and I were very very close. We saw each other every moment of every day that we were able to.  He was extremely healthy, full of life and a young man with the biggest heart.  We were so very much in love and we were due to get married on February 28th, 2009.  On Saturday February 14th, Valentines Day night, our world was about to be turned upside down with no warning at all.  I woke up to him throwing up that Saturday night about midnight and he constantly threw up all night into Sunday afternoon.  We just thought it was something he ate or a little virus that he caught.  He hadn’t thrown up in a while but was complaining about bad stomach pain so I tried to get some food and Gatorade back into his body because I have had the same feelings before and it was nothing.  That Sunday night around 8:00 P.M, my fiancé got up  , walked over to the kitchen and fell over the trash can, started stuttering and was pacing very confused and disoriented.  I knew at that point that something was seriously wrong so I called 911.  The paramedics arrived very quickly, which I am grateful for all of them that help save lives.  They showed up and by his symptoms were very much convinced that it was a drug overdose problem.  I tried to tell them that it was not the case at all and that we don’t have anything like that in our house, but they were still very much convinced.  I wasn’t mad at them because I can only imagine what type of people they see and deal with on the job and I know that they are only trained for certain symptoms.  Anyways, when we arrived at the ER, he had a fever of 104 and a heart rate of 190 and they were still convinced that it was a drug overdose and again I tried to tell them no and that he hasn’t had any food or liquid in him since Saturday night because he kept throwing it up.

They didn’t want to do anything until the drug test results came back.  The results came back negative and once they stabilized him, they sent him to ICU not knowing why this young man was so sick.  In ICU they did spinal taps, MRI, CT Scan, EEG, liver, kidney, lungs, every kind of test known to man and all of it came back normal.  They said he was very healthy but they are baffled on why he was so sick.  After a few days in ICU and even repeating tests to see if they missed anything, they came out and said that they found out that his ammonia level was high but they didn’t know why.  Within 2 hours it sky rocketed from being 200 to 400 and it was life threatening.  We prayed and hoped that the dialysis would bring it down and it did and they put nitrogen scavengers to attack the ammonia if it starts to come back.  Everything was great until the next day they did another CT scan and called his father and I into the room and told us the most horrific news I will probably  ever hear in my entire life.  They said when his ammonia levels went way up, it had stopped the blood to his brain and he was brain dead.  I wasn’t really sure what brain dead was and I thought he would be paralyzed or have to learn to walk, eat, etc, all over again.  I told them it’s ok and that I love him more than anything and I will take him home and take care of him no matter what it takes.  The doctor started to cry and looked at me and said, “Honey, it means that the blood flowing to his brain has stopped and that he is going to die.”

That was on February 19, 2009, a week before we were going to start a new part of our lives together.  I’m not sure if the paramedics or the ER doctors would of changed anything if they tested for anything else while they were waiting for the drug results to come back, but I just wanted to make everyone aware to maybe help save the lives of others, so they won’t have to go through what I went through.  I know that you are tr  ained on certain things, but I wanted to make you aware of high ammonia levels and the symptoms it causes can often be confused with drug overdose symptoms.  My fiancé had the top doctors from Neurology, Toxicology, Disease Control, etc. at Good Samaritan hospital and they still to this day are doing research as to what happened to him but they did come up with a genetic metabolic error of the urea cycle.  The main reason I am making you aware of this is because after doing hours and hours of research and talking to doctors and geneticists, there are several metabolic error disorders that cause a person to have the same symptoms of overdosing on drugs.  I hope my letter will further educate you on certain signs to look for because thousands of lives could be at stake.  If you would like to speak with me more or refer someone who is going through or went through the same thing and their loved one died with the same symptoms but wasn’t given an explanation or just thought it was a bad case of the flu or viral illness, I would really, really like to help.  My contact information is below. Thank you for all that you do and for all the lives you save everyday.  You are always in my thoughts and prayers.