Newborn Screening Family Stories

Nolan's Story (LCHAD) ~ How Our Child's Death May Save Your Child's Life

My husband and I wanted to share with everyone the story of our son, Nolan. It is a hard story for us to tell without being very emotional, however, our hopes are that his story may save at least one baby's life.

Our son, Nolan Leonard Mitchell, was born Aug 8, 2004. He was 7 weeks early and born at only 3lbs 7.9 oz. He had a few problems starting out, but went home only 17 days after birth with a clean bill of health weighing in at only 3lbs 14 oz. During the first month at home we did not have any big problems. In fact, I could not believe how comfortable I was being a new mommy. I was so scared the night before they let us take him home. I am sure I was like all new mother's in thinking that I would not be able to handle it, but for some reason, being his mother came naturally to me. Yes, it was hard transitioning from being able to just fall back to sleep when something woke me in the middle of the night, but on the other hand, I would look down at my beautiful son in utter amazement... thinking "GOD, my body made you, I did not know that I could make anything so perfect."

At two months however, he got thrush. No big deal, lots of babies get it. He had it so badly though that we had to take him to the hospital because he would not eat. It took about a month to fully get rid of it, but his not wanting to eat did not get any better. His pediatrician diagnosed him as having baby gastric reflux, a normal problem with preemies especially. We tried giving him a low dose of Zantac but it never really got any better. For months we struggled, listening to everyone's advice. Try this, try that. We put cereal in his formula so that it would make it a little thicker and also to help him gain weight faster. The doctor was not so worried about his growth or weight gain though as every time he went to the doctor, he had gained weight and grown. In fact, he had tripled his birth weight by 7 months, which is what doctors like to see.

His pediatrician was also never concerned about his developmental status, as he was almost on track for lots of things that he did. He was not behind in focusing on objects as he learned very quickly how to bring his favorite toy to his mouth to chew on it. He even figured out that his green binkie was for sucking on and his yellow was for chewing on. (The green was softer rubber then the yellow; the yellow was great for teething). The doctor did not believe us until she saw it and was stunned. She was also commented to us on how happy he was, never crying in her presence which was normal because he very rarely cried at all.

What the doctor was worried about however was how MUCH he was eating, for a 7 month-old, he was only eating an average of 8 to 10 oz of formula a day (what he kept down) and would NOT eat off of a spoon for anything. He also fought us half the time to take the bottle and would only take about 1 to 2 oz at a time; but he was gaining weight. We took him to see a pediatric gastroenterologist on March 2 and the doctor decided to try and up his dose of Zantac. She said if it works then it is gastric reflux , if after a week it hasn't then we run tests. Immediately he went from 8 to 10 oz a day to 20 oz and 2 jars of food and not fighting any of it. My husband and I were ecstatic. He would even wake up in the middle of the night and want to eat. He had also stopped throwing up; it was great.

Then about a week later he caught a little bug, threw up one time and took us back to step one and again we fought trying everything that all of a sudden worked with the higher dose of medication. We had finally come to our wits end when nothing was working so on Saturday, April 10 th we took him to the emergency room at the children's hospital to see if we could find out what was wrong with him.

The emergency room doctor admitted him and the gastroenterologist came by and said that on Monday they were going to start running tests. They did many tests, one of them being a PH probe. Out of all the tests it came back that it was gastric reflux, but it was so bad that she did not think that Zantac just wasn't going to cut it. The doctor prescribed Prevacid for him and said to come see her in a month. The pharmacist told us when picking up the medicine that it could cause diarrhea. What they did not warn us about was the horrible side effects that the medication "could" have on the nervous system. With in a few days he was having bouts of screaming. It wasn't that he was in pain because he would not cry as long as he was held (which was very abnormal for him as he use to fuss when he was held too much). Any time we would put him in his bed he would scream (which was very uncommon also) like he was scared to death. His diarrhea was also so drastic that he went from having one dirty diaper a day to 5 or 6 in one day. Finally after a few days we read the side effects, discovered the possible problems with the nervous system; which included things that amnesia, horrible dreams, hallucinations and so on.

We took him off that medication and put him back on the Zantac but the diarrhea did not get better. In fact it was so bad that we had to take him back to the hospital within a week of discharge because he was so dehydrated he was lethargic. The emergency room doctor hydrated him, gave him sugars and sent us home saying he would probably wake up the next morning or even that night for another feeding just fine.

The next morning, however, he did not wake up. I went in and woke him at 8am to get him to eat and he would not arouse enough to take a bottle. I could arouse him a little but he would just fall back to sleep. He was also very limp like a rag doll so we called our pediatrician who said to put him in a bath and if that did not work to call 911. When the bath did not keep him awake we called 911 and a team of emergency transport people came to my house. They said that his blood pressure and sugars were normal but that he was very dehydrated and needed to be taken back to the hospital. We rushed him down and his pediatrician called ahead to get him admitted immediately. Little did we know this was the last time we would have him in our home.

We got to the hospital and he was so dehydrated that the emergency room doctors could not get an IV in any of his veins. They finally got one in his forehead and got him hydrated, they pushed through loads of fluids and sugars in all at once to get him going. They also ran blood tests.

After being admitted the Gastroenterology specialist came in to see him. She said that she wanted us to see a genetic specialist because the blood tests showed that his liver enzymes were higher then they were just a week before, his liver was also enlarged. They decided to do a liver biopsy about a week after he was there to see why his enzyme count and liver were growing, when we got the results back from that it showed that Nolan had fat build up in his liver. So the genetic specialist sent his labs to a lab out of state that ran tests to check for metabolic disorders , the results would take 2 weeks to come back. She told us that there were some disorders that were treatable but others that were not. The blood test ran in the ER also came back showing him having Adeno Virus. During his stay his diarrhea went away for a day then came back worse than ever. They tested his stool and that test came back showing that he also had Roto Virus. So, they decided to stop all feeds to let his intestines heal because by this time he was releasing all that was being fed to him within minutes. On this day his IV also infiltrated so again he became severely dehydrated.

After trying several times to get in an IV the charge nurse decided that she was going to have to put in a type of deep line IV. So they put the IV in his neck and got ready to put in a deep line. They were finally able to get the line in and hydrate him and again he was OK for a few days.

Then on Saturday April 30 th all day long he slept, he would not wake unless to cry and that was very weak. The doctors miscounted it as him just being hungry and not wanting to stay awake because of that. They did a chest X-ray that morning to make sure the Adeno virus had not gone into his lungs and his lungs were clear. All day we asked the nurse to check him out and the nurse said that through a stethoscope his lungs sounded clear. By the time the night nurse came on however, she took one look at Nolan and saw that this was NOT the same baby she had cared for the night before. By this time he sounded so congested that it sounded like he was chewing on Rice Krispies, but still through a stethoscope he was clear.

She tried cleaning out his nose and throat checking to see if he was just congested from the virus. However, throughout this the nurse's tech could not get a blood pressure. He had a pulse and was crying but was very weak. Within about 1½ hours of the night nurse coming on, they had to call a Code Blue to his room and 30 doctors and nurses came running into his room and pushing my husband and me out. We stood in the hallway crying not knowing what was happening to our son who just days before had been smiling and laughing. I yelled at every single person that walked near me asking him or her what was happening and no one would say anything. We were taken into the conference room that just happened to be next to Nolan's room to wait.

The doctors finally came in after what seemed an eternity and said that Nolan had gone into full heart failure and that he had a pulmonary edema. His left ventricle was enlarged and not pumping, he had a leak in one of the valves and his lungs had filled up with fluid. The doctor that night said that Nolan had only one chance but it was a small one. He had to be put on a machine called an ECMO Circuit, which is basically a bypass machine for his heart and lungs. This was to give his heart and lungs a rest so they could "hopefully" recover. It was not a guarantee that he would recover though and some patients can't take the stress of being put on the machine, but it was his only chance.

We agreed to give him his chance and at around 1 or 2am (I had lost track of time by this point) the doctors went to work and we all waited. Around 5am they came in and said that he made it on the circuit but he was not stable on it yet and it was still touch and go. By that afternoon he was on the machine and we were all able to sigh our first small breath of relief. They did a chest x-ray and noticed he had what is called a pneumothorax, an air pocket outside his right lung, and decided that they had to put in a chest tube to release the air but that it was a large risk. Because of being on the circuit they were giving him a blood thinner called Heparin so that his blood did not clot inside the machine.

Again we held our breath until they came in and said that got the chest tube in, but the next day he was bleeding profusely. It was pooling up inside his chest and the tube was not draining it so they had to put in another chest tube to drain the blood. They would have to change these both out 2 more times because of not draining properly, which every time was more and more risky because of the blood thinner. By the last time the tubes were changed out he was bleeding approximately 100 CC's every few hours. (That's about 3½ oz a few hours) They were putting blood back in him as fast as he was losing it. That night, the Doctor told us that we would have to make a decision within possibly the next 12 hours if they could not get the bleeding to stop.

Days before this my Aunt brought up a small charm, a St. Anthony's medal. She told me he was the Saint of miracles and that it was important to have it touching him. We figured fine we need a miracle to his heart, so we taped it over his heart, which was at 20% function. The next morning the doctors were elated to see that his heart function had improved. So we figured when he was bleeding, that if there was a miracle that helped his heart, maybe that same miracle could help the bleeding. So again we taped the medal over the problem area and within 2 days he went from 100 CC's of blood loss every few hours to 43 CC's from 12am to 5pm. It did appear to be a miracle.

The whole family was rejoicing, but now we had to worry about his lungs. His left lung was opening up, but, because of the pheumothorax on his right side, and the drainage tubes not working at first, he had a blood clot in his chest that was putting pressure on is right lung, and his left lung for some reason was not oxygenating his blood as efficiently as it should have; so the doctors thought that the only chance was to take him off the ECMO circuit, stop the blood thinning medicine and take him to a surgery room where they would could cut him open a little and remove the blood clot. Once again the ugly word was thrown out there again. RISK. The risk what if his heart and/or lungs could not handle being off the circuit then they would have to put him back on, give him the blood thinners and he may bleed uncontrollably again. Not to mention the possibility of him not surviving being off the circuit for long enough to do the surgery or the strain that it would have on his body, but it was also his only chance to move forward, so they planned the surgery for 7am the next day.

My husband and I, along with all our family, were at the hospital by 5:30 or 6 that morning, ready for whatever was to come. We watched as the nurses got all his IV tubes and cords together ready for transporting him, when the doctor came in to look at that mornings chest x-ray. We were in his room trying desperately to hear what he was telling the nurse when we heard, "we have lung." Both of us stunned, wondered in silence what that meant. Finally the doctor came in and told us; his left lung is fully opened up and his right lung for the first time has opened and has air in it, no surgery!!!

Was it another miracle? We went out and told our families, which we then as you can imagine all cried being so happy. Also, some time during all this we got the results of the liver biopsy back. He had what is called LCHAD, a treatable metabolic disorder. TREATABLE. That was the only word we all heard. Once he came out of this and went home, we would be able to treat him with a special diet and he would be just fine; there would be struggles, but he could live a semi-normal happy life!

Things appeared to be turning around for Nolan. It appeared to us, and the doctors, that he might pull through after all. The next couple of days he was stable enough that the doctors decided to take the flow pressure of the circuit down and give his heart more of the work. Their plan was to have him off ECMO and only on a ventilator by that night or the next morning. Then they could take out the chest tubes and get rid of that blood clot a lot safer than it would have been just days before. Within a short amount of time during the night and day they got the flow down from 900 ccs per kilo to 300. Which meant that his heart was doing more of the work and his body was tolerating it. Then, just when the doctors took their breath of relief, thinking this was it, he was going to come home from all this, he crashed. His oxygenation levels in his blood dropped to the low 50's, which had been in the high 90's since being put on the circuit and still all day while being on the lower setting.

They put the strength of the flow back up and gave him blood product. It took a long while to get him back to satisfactory saturation levels but they did get him back up; the circuit however was now at a flow of 1200, higher than before they started weaning him off.

At this point, my husband and I sat down and talked. It was time. We could not bear the thought of putting Nolan through anymore. We wanted his suffering to end. I wanted to be the one to take away the hurt that my child was going through, not have a doctor come and tell me when it was time to do so, though the thought of what we had to do to take away the hurt was killing the both of us. We decided that we would rather be miserable than make our beautiful baby boy struggle any more. We called our families and everyone came down to the hospital. We told the doctor what our wishes were. Her response was basically admiration; she told us that her heart was breaking for us. She said that she would go and talk to the other doctors that had vested so much time in Nolan's care, then if all were in the same agreement, she would come back, let us hold our baby one last time before turning off the machines. My husband and I brought the family back, one at a time, to say their final goodbyes to Nolan, then, after everyone had been back, we sat in the room to spend the rest of the time with him ourselves.

The doctor came back after several hours with the genetic specialist and said, what shocked at least myself, the doctors were not ready to give up. There were a few more things that they wanted to try out. Also the genetic specialist wanted to do another test to see if he had only LCHAD or if it was TriFunctional Protein Deficiency. If he had Trifunctional, then they would be in full agreement with our decision (the lifespan is not as promising/long as with LCHAD). The doctor ran the test by a cheek swab and sent it out to the lab; this test would take 48 hours as opposed to a skin sample that would take 3 weeks.

During this visit, we also asked the doctor if he would be willing to write a letter for us so that it was from a specialist in the field, to the State of AZ congress. We had found out that when a baby is born, they do a blood sample and send it off to a lab; this test as many of you know is called newborn screening. There are 50 disorders, one of them LCHAD, that they can check for off the same blood sample at the same lab. There are approximately 21 states that have laws to test for at least 30 of these disorders. AZ state law tests only for 8. The idea was to see what we can do to get enough people to write letters and send in pictures of what Nolan was going through (which I was hesitant from doing) to see if we could change the law and hopefully save other families from having to go through all this.

When my husband and I asked if he would help us out, he made my and all our families day when he told us that we would not have to be the ones to fight the state. Another family had fought for us. It had started 3 years back and the bill had just been signed 2 weeks before. So, as of the summer of 2006 the State of AZ law was changed to test for 29 of the disorders, one of them LCHAD.

Just 48 hours after the cheek swab was done to check for the 2 disorders, we got our results back. My husband and I sat, barely breathing, while we waited for the doctor to tell us the results. It was LCHAD, not Trifunctional!!! We decided if the doctors are not ready to give up then neither were we. We wanted to keep trying. The decision was made to try feeding him what he needed. His liver needed formula with MCT oils, so 5 cc's every hour of formula with the MCT oils his liver needed was passed through the tube that was already placed in his stomach for drainage. The hope was that he would digest it and it would help start the treatment his liver needed to shrink back down. The next day, however, the nurse pulled out all the formula was that put in. He did not digest any of it. The next thing the doctor wanted to try was giving him straight MCT oils, unfortunately, there is no IV form of this, so again we had to try to rely on his body to digest it; which he did not.

I wish that I could tell you all that my son pulled through, woke up, opened his big beautiful blue eyes and smiled up at us again. But he did not. We finally, after all our and the doctors efforts, had to turn off the machines. The end result, after all our ups and downs, was to let him go peacefully.

Now, you may be asking yourself why did I share all this personal information with the world. Why did I put my heart out for everyone to see? The answer is simple. I am still hoping to save a baby's life. My suggestion to all the soon-to-be mothers that I know and all the ones that I don't know is to get tested. Yes, it is a rare condition but my son had it. There are many other families out there with this metabolic gene and they don't know it. It can happen to anyone. That was the hard lesson that my husband and I had to learn. It CAN happen to anyone.

We found that at 16 weeks this disorder can be detected with the tests run off of an amniocentesis. If you are past that time, then see what you can do to get your insurance to pay for the test while they do the newborn screening. If the insurance won't pay, then find a way to pay for the test yourself. Tell everyone in your family and all your friends about this problem and see if they will help fund the test for you, $5 or $10 from everyone to help save YOUR baby's life. Trust me, it is worth not having to go through what my husband and I, or especially my precious son, Nolan, had to go through.

Yes the bill was passed in AZ to start testing but that will not take place until the summer of 2006, and again, that is AZ. There are several states that currently test for this condition, you can log on and see what your state screens for at http://genes-r-us.uthscsa.edu. I f you do not reside in one of these states, you can still get tested on your own. By calling 1-800-4-BAYLOR (1-800-422-9567) parents can request a kit. Then, simply tell your doctor that you would like to have an extra blood sample drawn at the time of your baby's routine screening visit.

Imagine out of how many babies will be born in the next year. What if 10 women read this and tell their friends and they tell their friends. Well then, maybe Nolan's story may help your baby or your friends.

You can obtain more information on LCHAD and other FODs (Fatty Oxidation Disorders) by logging on to http://www.fodsupport.org.

Kristen and Kenneth E Mitchell II

krissim28@cox.net

May 30, 2005