Note: This article written by Amy has appeared in the NUCDF newsletter
written exclusively for members of the foundation.

The Magyar’s Story of Urea Cycle Disorders

On Friday, April 25, 2008, we welcomed Mitchell Michael into the world.  At 7 pounds, 14 ounces and 20 inches long, he was a beautiful and healthy baby boy. 

After a three day stay at the hospital, for Mitchell’s delivery, we took our baby home.  He was such a wonderful and happy newborn.  He did not make a sound.  He slept for many hours at a time.  We even had to set our alarm clocks to wake him up to feed every four hours.  We could not believe that we were blessed with a child that was already sleeping through the night.  We truly thought that we were the luckiest parents in the world.

At five days old, we took Mitchell to the pediatrician for a standard check up and to be weighed.  He had lost two ounces since he was discharged from the hospital. The pediatrician assured us that losing weight was normal for a newborn, as long as it was only an ounce or two.  She also did not think that his sleeping patterns were anything to be concerned about, at this time.  We agreed, as we knew that newborns typically lost weight and may sleep more than usual.  We scheduled an appointment for two days later – for another weight check – and we headed home.

At seven days old, we took Mitchell back to the pediatrician’s office.  He had lost another two ounces and there was now some concern about his sleep habits.   The pediatrician was called out of the room and returned approximately five minutes later.  She stated that the State of Connecticut Newborn Screening Department had called and informed her office that one of Mitchell’s tests had come back positive.  It could be a false positive; however, since Mitchell was losing weight, was not eating very much, and was sleeping quite a bit, they thought that it would be best if we brought him to the hospital to ensure that all was okay.  As we were driving to the hospital, I said to my husband, “I have a feeling that our lives might change forever today”.  Never had a statement been so correct.

We arrived at the hospital and were ushered in as if we were royalty.  They had been expecting us, but we had not been expecting what was in store for us.  Mitchell was immediately brought into a room and blood was drawn.  Doctors and nurses starting coming in and out of the room and were informing of us of what they were doing, why they were drawing blood, what the results might mean.  We did not know what was going on.  We felt as if we had been hit by a truck.  What was wrong with our beautiful baby boy?  We sat in the emergency room and cried over our baby’s bedside. 

They started talking about ammonia levels and possible brain damage, seizures, or coma.  They told us that he had an ammonia level of 347 and that he was going to be admitted into the pediatric intensive care unit immediately.  They began explaining that Mitchell has an extremely rare metabolic/genetic disorder caused by a deficiency of one of the enzymes in the urea cycle in the liver - which is responsible for removing ammonia from the blood stream.  The ammonia becomes toxic to the body and can travel to the brain through the blood where it causes irreversible brain damage, coma and/or death.  We were stunned.  We were overwhelmed.  What did this all mean?  Would Mitchell survive this?  We were told that he was lucky to be alive and very lucky that this disorder was discovered before he had a seizure or became comatose.  We were lucky?  Is that the baseline now for luck?  That our child was not in a coma, did not have a seizure, and did not die!!!!  This was all too terrifying to even comprehend.

Words can’t describe the sheer horror that we experienced over the next few days.  The first night I was unable to breath.  I truly felt as if I could not go on.  How would I ever live if my child lost this battle?  It was too much to bear.  We cried ourselves to sleep at night, if we slept at all.  We sat by Mitchell’s bedside and held his tiny hand in ours and prayed that he would live.  We called our family and friends and informed them that Mitchell might die.  We called a priest to come and baptize Mitchell.  It was an experience that no parent should ever have to go through. 

We felt so lost.  We did not know what questions to ask.  We did not know where to turn.  Would our child live?  Would he have brain damage, if he did live?  What kind of life would he have?  The staff at Connecticut Children’s Medical Center was fantastic and explained every detail to us as well as they could.  However, this is such an unknown disorder, most of the nurses and doctors had never even seen a child with this before.  They could only help us so much. 

We were told that Mitchell would be on a strict diet.  We could do that.  We could limit his protein – which cannot be eliminated from his body and, in turn, becomes toxic.  We could do that!!  I knew that we could.  But, no, there is more, they told us.  It is also any change in body chemistry.  Any time that Mitchell gets sick, a fever, a cold, a cough, the flu……..his ammonia levels could rise.  The stomach flu or diarrhea could actually kill him.  WHAT???????  How do you keep a child from getting sick?  They told us that we should not bring him out of the house for the first three to six months of his life, quarantine him from his sister if she is sick, and limit his exposure to visitors.  How do we live that way?  How can we stay home for six months and never leave the house as a family.  We don’t live in a mansion, so we can’t quarantine his sister to the “west wing”, in the event that she became ill.   We never wanted to leave the hospital.  We truly thought that we could seriously harm Mitchell if we brought germs into our home or if we accidentally gave him too much protein.  It was a terrifying and horrible way to live.  However, we had to leave the hospital, bring our baby home, and go back to our normal life.  Or, at least begin the life that would now be our new normal.

The first few weeks at home were a blur.  We spent most of our time crying.  Feeding Mitchell was horrible because he refused to eat.  We felt as if we were force feeding him – and we were - because, when he did not want to eat we pumped his formula down the tube in his nose.  I slept next to him on the couch because I was afraid that he was not going to wake up.  We kept track of every single incident that happened to him on a daily basis. From the times that he slept to how much food he took by mouth versus tube and so on.  We created a spreadsheet that even Einstein would have been proud of.

Then, the inevitable happened.  Even with our incredible spreadsheet I could not remember if I had given Mitchell one of his doses of medicine.  It sent me into complete hysteria.  Did I hurt him?  Will he have an ammonia attack from one missed dose?  Will he have a seizure?  Will he not wake up tonight?  Of course, it was a complete overreaction to the situation but I did not have much energy left to think clearly.  I was completely overwhelmed.  This was not supposed to happen to us.  We were supposed to have a healthy baby.  What if our older daughter was a carrier or had late onset of this horrible disorder?  My mind rambled from one terrible thought to another and they could not be controlled.  I truly thought that I would never have another happy moment in my life.  This was our BABY!!  He was just a baby.  This was not supposed to happen!! 

Weeks turned into a month and then two months, at home.  Everything was finally going so well.  We actually began to have happy moments.  Mitchell started drinking his formula and we were able to remove the nose tube.  He was gaining weight and was acting like a healthy baby.  We let our minds begin to comprehend the possibility of maybe being able to have a “normal” life again.  Then, one day, Mitch woke up and decided that he was not going to eat.

Our life became a whirlwind again.  We rushed him to the hospital and the nose tube went back in.  It was awful.  That horrible tube hanging out of our child’s nose was a constant reminder that something was wrong.  That he was not healthy. It became a harsh reality that Mitchell would need a permanent stomach tube.  We made the difficult decision to have the tube put in.  I knew that it was the right decision because we had to have an alternative way to feed Mitchell, in the event that he was not able to eat by mouth.  Before they brought Mitchell into the operating room, I kissed his little, perfect stomach.  I knew that it might never look the same again.  However, I was fully prepared for the concept of a tube in his stomach.  I would do whatever it took to save my baby.  What I was not prepared for was what it actually looked like.  I entered into the recovery room and there was my baby boy lying on a bed completely covered in blankets.  He looked the same – my perfect little Mitchell.  Then, they removed the blankets.  I was horrified.  He looked like a character in an alien movie.  The tube resembled a third arm sticking out of his stomach.  I began to cry, I could barely stand up, anguish washed over me.   In addition, a one-day procedure, to put in the stomach tube, turned into a five-day stay at the hospital.  Mitchell spiked a fever.  His ammonia levels kept elevating.  They were unable to draw blood from his veins.  He had emergency surgery to have a central blood line put in his chest.  He came home with two tubes sticking out of his little body. 

One difficulty that we face each and every day is that Mitchell has an aversion to eating, as do most individuals with urea cycle disorders, and he takes very little liquid or food by mouth.  Feeding time is extremely stressful for both Mitchell and me.  I know that he cannot miss a meal.  If he does, we are then trying to play “catch up” for the rest of the day.  It is imperative that Mitchell receives a certain amount of protein and calories throughout the day.  I measure each morsel that goes into his body, by the gram.  I spend most of the day measuring his food, attempting to feed him by mouth, him refusing the food by mouth and then my tube feeding him, and waiting for him to projectile vomit.  After that entire process is completed, it is time to feed him again.  Words can’t describe how my heart breaks as I am trying to “force feed” my child and he is crying and so unhappy because he is just not hungry.  In addition, we need to pump feed Mitchell over night because he is unable to consume the required volume during the day.  Therefore, he sleeps in the pack and play next to our bed because I want to be near him if he gets sick in the middle of the night  - because even the 15 feet to his room is too far away for me. 

On top of the daily challenges and stress that we live with, we are still waiting for the final results of Mitchell’s DNA tests to come back.  Mitchell’s body acts as if he has a urea cycle disorder, but his DNA proves otherwise.  It has been a long waiting process to find out that Mitchell might have a mutation of one of the existing disorders or may have a disorder within the cycle that has not yet been discovered.  Either way – it would, potentially, make him the only known person in the world.  Thank goodness, Mitchell responds well to the treatment for the known disorders.  We pray, every day, that he will continue to react well to his medicine and formula. 

Mitchell has had two hospital stays and three emergency room visits in the past five months.  This is a battle that he will be fighting for the rest of his life.  I cannot pretend to deny that this is difficult and stressful, as it is for any parent that deals with the daily challenges of a child with special needs.  However, then I look at Mitchell’s beautiful little face and sweet smile and I realize that every challenge that we face is worth it and that we are so fortunate to have our baby with us.  We truly believe that Mitch was brought to us for a reason.  He could have slipped away from us so easily during his first week of life and he fought extremely hard to win that battle.  This is not the journey that we had planned for our child or our family.  However, the road less traveled is not always the least desirable path.  We have met many people along the way, people that have gotten us through the hardest moments of our life, people that we can lean on in our darkest hours.

We have made it our mission to raise awareness regarding Urea Cycle Disorders.  It is not that these disorders are so rare – it is that they are unknown or go undetected.  No parent should lose a child due to lack of knowledge.  It is only through awareness and raising funds for the National Urea Cycle Disorders Foundation, that individuals suffering from UCD’s will have a fighting chance to live happy, comfortable, and long lives.

Thank you for joining us in this journey and supporting us along the way.