Our Story of MCAD

Elijah was doing great at home and we took him for his 3-5 day check up on Tuesday, Oct 25th. All looked great at the checkup. He had lost 5oz in the first few days but was back up to 6lb and 6oz at the checkup, so he had gained a tiny bit back in the first 2 days at home.

Later that night, I looked at my phone and saw that I had a call from the pediatrician. That is never a good sign as far as I am concerned. The only other time he had called me was when we needed to take Lucy in to the ER for her UTI. Pat checked his phone and he had 2 voicemails and a text from the doctor. That confirmed that there was definitely something wrong. Pat called him back and got the news that Eli had tested positive for MCAD which is a rare genetic disorder that shows up in the PKU infant testing that they run at the hospital.

We were completely shocked and heart broken. Our pediatrician had never seen a case of the disorder before which made the news even more challenging because all we knew after that call was that it was serious, could not be cured, and could lead to terrible things like coma, brain damage, or death if not managed properly. We did what you might expect and spent the whole night researching the disorder on line. What we read brought us to our knees. There was story after story of feeding tubes, brain damage, severe diet restrictions, ER trip after ER trip, and through it all most medical professionals did not know how to treat the disorder so there were plenty of cases where children's needs were not addressed in a timely manner leading to permanent damage. In fact, we read one medical document that stated that, if not diagnosed, 25% of children died before the age of 3 years old. All of this information was enough to crush us. We prayed and prayed and tried to wrap our minds around what life would look like. I kept praying that God would help us to treasure the time that he would give Eli and that we would joyfully soak in every day that we had with him. We thought that his time with us would be cut short. We knew that his life was in God's hands, but honestly we were afraid of what that meant. We felt like our little baby had been take from us already. We spent the next 24 hours crying more than not.

On Wednesday morning, we had to head down to Children's hospital for additional blood work. That experience deepened the shock. There were so many hurting people there and I felt like we were walking into a place where we would spend countless hours and days. We just kept praying for God's peace and comfort. I didn't even make it past the greeter desk without crying. We were both a mess.

While we were at Childrens, I had missed a call from a Biochemical Geneticist from the Center for Human Disease and Disorders at UW. We gave her a call back and her words provided such encouragement that we began to feel like we were getting our son back! She lead in by saying that Elijah would be completely fine and that MCAD was very manageable! She said that he could live a full and active life. She also said that the stories of coma and brain damage were in cases where children were undiagnosed and then did not receive any specialized care when they were sick. This could be completely avoided with Eli given that we understand his condition and his needs. I cannot tell you how much of a relief this was to us. We didn't feel even close to 100% great about the situation but we felt like God had provided so much grace. It was hard to accept the good fully though after reading so many negative stories.

The more complete relief came after meeting with Dr. Scott the Metabolic Disorder specialist on Tuesday, Nov. 2nd...a full week after Elijah's diagnosis. He gave us the following good news!

1. In the 8 years that the clinic has been open and treating MCAD patients there has not been a single episode of "metabolic decompression." This means that while patients regularly end up needing to go to the ER for an IV to help treat them during periods fasting (vomiting, etc), to date all of the visits have successfully treated the patients' needs quickly enough to avoid any permanent issues such as seizures, coma, brain damage, death.
   
2. Dr. Scott said that if Elijah is average, by the time he's five, he will have been treated in the ER twice. Again, very encouraging here. We'd read that even something as simple as a cold could be life threatening. We thought we were going to be in the hospital with Elijah constantly.
   
3. Once we identify that Elijah is having issues (most likely when he gets stomach flu) we have a couple of hours to get him treatment before it lasting damage is done. This gives us some peace of mind about the process of responding when there is an issue. Dr. Scott advised that we go to the Children's Hospital ER if we have time or Providence up in Everett if time is short. We were provided a letter to take with us when we need to go to the ER that explains Elijah's disorder and how to treat if.
   
4. At Elijah's current age and weight, Dr. Scott estimates that he could go without food intake for 6 to 8 hours before he would become severely hypoglycemic and get into trouble.
5. Currently, we can wait up to 4 hours at night and 3 hours during the day to feed Elijah and be perfectly ok. This is awesome because we were initially told it needed to be every 3 hours around the clock.
   
6. Elijah will need to be seen by Dr. Scott and Team again around 5 or 6 months, when we start transitioning him to solid foods. After than the appointments will be yearly. I feared month appointments so this is awesome news.
7. Elijah will start taking Carnitine daily. Carnitine is a natural substance that we all have in our bodies. The extra Carnitine will help him boost the efficiency of his metabolism. There are no side effects known.
8. Elijah has what Dr. Scott called "Classic MCAD." The mutations in his genes are the worst ones to have, but as it turns out, 80% of people with MCAD are in this category. The other lucky 20% have mutations of a less severe variety.
9. Beth, the Nutritionist, told us that most of the information about dietary restrictions for MCAD patients that's available online is out of date and that while Elijah will need to be on a low fat diet, the diet will not need to be nearly as strict as the literature would suggest. This means that the burden of specialized meal planning has been significantly lightened.

It is amazing to look back over the last two weeks and see the countless ways that God has protected our little boy. I, more than ever, believe fully in God's power to save, protect, and answer prayers. While this has been tough, I can see God's goodness through each stage. I know that sickness is hard to see as "good", but I think that there has to be different definitions of "good". It is not just comfort and ease. Here are some of the ways that I can see how God has worked to protect our family.

1. Many babies, before the diagnosis comes back, are rushed to the NICU before even being discharged from the hospital because of low glucose counts. The glucose levels can drop very quickly and to dangerous lows just between birth and when the mother's milk comes in. My milk came in really early.
2. I was GBS positive and was supposed to have a minimum of 4 hours of antibiotics before Elijah was born to reduce his chance of infection. I only had 2.5 hours of the antibiotics yet Elijah did not get sick. An infection would have been extremely dangerous for him because it would have set in well before the MCAD diagnosis came back.
3. Not all states even test for MCAD. Had he not been tested, he would have had, according to the document we read, a 75% chance of survival after his first metabolic crisis. In addition, the testing in Washington State only started in 2005.
4. Lucia is not MCAD positive!
5. Dr. Scott has, hands down, the most impressive medical bio I have ever read. Here is the first paragraph and it only gets more impressive as you read..."Dr. Scott is Director of the Biochemical Genetics Laboratory at Seattle Children's as well as Director of the Molecular Diagnostic Laboratory. Both laboratories were founded by Dr. Scott. He heads one of the largest biochemical genetics programs in the United States, and serves as the metabolic disease consultant at Seattle Children's as well as the University of Washington Medical Center. He is also a frequent genetic disease consultant to the NICU at the University Hospital." He sees all Washington State patients with MCAD and he is located in Seattle!
6. The great care that Elijah will receive also includes a handful of genetic researchers, an MCAD specific nutritionist, and an oncall Biochemical pediatrician who we can call if we have any question regarding whether or not to take Eli to the ER.
7. My Mom was staying with us when we got the news, and she stepped in to save the day with keeping things normal for Lucia. I have no idea how we would have managed without her help. It was so critical to have her here through those tough days.
8. So many friends have come along side us to grieve when we were grieving and rejoice when we were rejoicing. Community and the encouragement of others who know and love the Lord has been a life saver.
9. The challenges have shown Pat and I how we can come together to cry, pray, and encourage each other. God has blessed us with a relationship that is solid and has great depth. I don't know what I would do without his encouragement and real honest discussion.
   

We praise the Lord for his immense blessing of our son who He so perfectly knit together and has a wonderful plan for in this life. We are so honored to be his parents and to be blessed by his tiny presence in our home. Great is His faithfulness!