Shortly before Zack’s 1st birthday I wrote an article that appeared in the FOD Support newsletter. When I read it today, seven years later I am reminded of the desperation and chaos we experienced during that time of our lives. However, the tone of “Zack’s Story” put a lot of blame on people who were doing the best they could given the information available to them.
I am very thankful to everyone that was involved in Zack’s care and diagnosis. That being said I do still recognize the importance of being a strong medical advocate for your child. If something doesn’t feel right you should voice your concerns. If you still aren’t satisfied seek a second opinion as we did with Zack.
I thought about editing Zack’s story to adjust the tone but decided against it. As it stands right now it is an accurate depiction of what happened from our viewpoint at the time. I was able to reflect on our emotions and have an “ah-ha” moment after re-reading his story and remembering what it was like during that time.
Without further delay here is Zack’s story as it appeared in the FOD newsletter from 2005.
Did Mother Have HELLP: No
Gestational Age: 36 weeks
Reason for Premature Delivery: Preeclampsia
Date of Diagnosis: 7/3/2004
Medical Presentation When Diagnosed: Lethargic, Hypotonic, Failure to Thrive, Severe GI Reflux due to Hypotonia, Cardiomegaly
Current Doctor(s): Dr. Hainline & Dr. Wappner at Riley Hospital for Children
Results of Molecular Analysis: G1528C in exon 15 (common mutation), and a deletion of the A at position 1893 in exon 18
Location: Louisville, KY
Zack was born early at 36 weeks because my wife Amber suffered from severe preeclampsia. Zack weighed a normal (for his gestational age) 5lbs 5oz at the time of his delivery. There were no complications with the delivery. However, they kept him in the NICU for a week because he was not able to maintain his body temperature. Zack also had pneumothorax which went away after a few hours on 100% oxygen.
Zack was released from the hospital a week after he was born and came home with us. The next 3 weeks were full of happiness as I was lucky enough to have a month paternity leave. When Zack was 3 weeks old he woke up around 5am and had horrible projectile vomiting. This continued a few more times over the next hour while I was trying to get in touch with his pediatrician who told us to go to the emergency room. Several tests and 24 hours later we were discharged from the hospital after the doctors told us he was just dehydrated.
Over the next month Zack’s health slowly degraded as he started to throw up with almost every feeding. Because of the persistent vomiting Zack had only gained 1 pound since birth at 2 months of age. Also, around this time Zack became completely lethargic and didn’t hold anything down for almost a day. We rushed him to the emergency room again.
Doctors weren’t exactly quick with answers during this hospitalization that lasted 5 days. They ran countless tests ranging from a CT Scan to a Renal Ultrasound. We did find out that his ammonia and liver enzymes were elevated. Because of this they started running tests to determine if he had a metabolic disorder but stopped after the first one, an organic acid profile which came back normal, when a urine culture came back positive for a urinary tract infection. Although our gut instinct told us there was something else going on I was relieved with this diagnosis since it wasn’t serious. At this point I was naïve and didn’t question the doctors because I thought they knew everything. However, Amber wasn’t relieved by this diagnosis but we all brushed her concerns aside. I wish I would have listened to her concerns and demanded then that the doctors continue the tests to determine if he had a metabolic disorder. Looking back at pictures of Zack around this time it is easy to see how sick he looked, definitely not just a urinary tract infection.
Zack was released from the hospital and was prescribed Zantac for reflux and an antibiotic to treat his urinary tract infection. Over the next 1 1/2 months Zack actually showed dramatic improvement and gained a lot of weight. However, we were still concerned that there might be something else going on. I don’t know why we thought this because he was acting fine but something just didn’t seem right.
Amber was constantly taking him to the pediatrician because she thought something was going on. Even though he looked fine he was acting different than his normal. This was very hard to explain to doctors because he didn’t appear to be sick. Zack’s pediatrician ran a blood test and it showed that he was severely dehydrated which prompted him to refer us yet again to the local children’s hospital.
By now I’d had enough with the first question that came out of a doctor’s mouth at the local hospital being “Are you first time parent?” I realized that they were asking this to determine how credible our statements should be taken. It was during this trip to the ER that I demanded a complete metabolic workup be ordered because 3 trips to a hospital in 4 months wasn’t right. It also wasn’t right that Zack was almost 5 months and couldn’t lift his head or roll over and had head lag when you picked him up. Of course these concerns were blown off after I answered yes to the first time parent question.
Luckily, with some persuading from Zack’s WONDERFUL pediatrician, Dr. Kamber, the local hospital agreed and the tests were ordered. A couple days later a presumptive positive came back for LCHAD. As you can tell I’m not that impressed with our local children’s hospital but I will give them credit for diagnosing him quickly even though it took quite a bit of persistence to get the labs ordered.
No one at the hospital had ever heard of any FOD especially LCHAD which appears at a significantly lower occurrence that MCAD. In fact, when they came in to tell us the lab results the only information they had on it was what came from an outdated textbook from around the time LCHAD was discovered. This was very scary because at the time this was published it was thought that greater than 90% of children affected by LCHAD would die by age two.
As you can imagine Amber and I were heartbroken. However, after several days surfing the web, sending multiple e-mails to Valerie Fulton, and frantically making calls to Deb, I learned that this is only true if they are not diagnosed until severe liver or heart damage has occurred. Luckily, with Zack, this was not the case. I also learned that even with heart and liver damage LCHAD can be managed most of the time through proper diet and constant supervision by a professional who specializes in FODs.
Nothing else spectacular happened in this LONG hospitalization (3 weeks) except Zack did have a g tube placed and a nissen performed. The g tube has been a huge success however the surgeon failed to inform us that the nissen can cause something called dumping syndrome in which the stomach empties much faster than it should. This can cause a sudden spike in glucose levels which causes the body to produce too much insulin which drives the glucose down very low. Zack’s levels were all over the place from less than 20 to over 300! Unfortunately, the normal treatment for dumping syndrome is eating high fat foods, which Zack obviously cannot have.
The local geneticist made a hard effort to try to research LCHAD but it was evident we needed to find a new doctor after all the trouble we had with the hospital and the fact that the local geneticist had never treated LCHAD. After a very long search we found Dr. Hainline & Dr. Wappner who practice at Riley Children’s Hospital in Indianapolis, IN. The difference between the care he was receiving locally and the care at Riley was night and day. It is amazing there! I highly recommend this facility, they were even able to accommodate me with a broadband connection so I was able to work while Zack was in the hospital at Riley (Ok I am jumping ahead sorry!)
When we first saw Dr. Hainline in September Zack’s LCHAD was still not under control. His liver functions and CK levels were still high. Also, Zack was going through the dumping syndrome cycle on a daily basis. His glucose levels during all this went as low as 20 or 30. Again, this was happening daily. I know you’re probably wondering why we didn’t take him to the ER, etc. I want you all to know that we did. We took Zack to the local hospital 4 or 5 times in the month after he was diagnosed and called the local geneticist almost every day. They STILL blew us off even after knowing his diagnosis. This was a horrible time in our life, we felt completely helpless and alone. There was no one we could go to for help and all we wanted to do was help Zack. It brings tears just thinking about this time. I don’t ever want to go through something like that again. It was hell.
Needless to say when we told Dr. Hainline about all of this during our September visit all he could do was shake his head in disbelief. I felt so much better after this visit and was comforted in the fact that we now had a place that would help Zack. Because of less than impressive lab results Dr. Hainline thought it was best to admit Zack to get everything under control. What was only supposed to be a 3 or 4 day admission turned into another 3 week admission but it was well worth it. During this hospitalization at Riley we discovered damage to his heart caused not by LCHAD but from untreated high blood pressure that the local hospital did nothing about! Also, the mystery of his roller coaster like glucose levels were discovered when he was diagnosed with dumping syndrome.
Are you seeing the theme here…? I can honestly say the things that cause us the most problems on a day to day basis aren’t even caused by his LCHAD. They are the things that the local hospital missed and didn’t treat which became worse. I.e. dumping syndrome, heart damage from untreated hypertension etc. One thing I learned from all of this is to always question what you are told. Even the best doctor doesn’t know all of the answers and you should always get a second opinion if your gut instinct tells you to.
However, Dr. Hainline, Dr. Wappner and the wonderful staff of Riley Children’s Hospital have done an awesome job. For the most part Zack’s labs are normal, the damage to his heart has stabilized and he has MUCH more energy. With the help of Amber and physical therapists, Zack is able to physically do most of the things that he should and he is very advanced mentally.
I now look forward to Zack being with us for many many years and for his health to continue to improve under the supervision of Dr. Hainline. We will get through this and I deeply appreciate the support we have received from the group. Thanks for all that you do and Happy Holidays and remember, if you know something is going on and your doctor won’t listen be persistent!
Andy, Amber, and Zack
LCHAD 9 months