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!

Elijah: Coming Home

We stayed at the hospital until Sunday morning rather than just the standard 24 hours because the pediatrician wanted to watch him for signs of GBS. Thankfully he did great and we just spend one more night on the luxurious hospital beds. ;) My mom arrived on Saturday night and was able to join us at the hospital for the last hour or so before we headed home. We were so excited to have her there so near the birth date and at our house through the first week or so at home.

Me and my boy getting ready to head home!
Nap time with daddy. I can't believe how much his face has changed already!
A family of four! We are so amazingly blessed to have two wonderful little people in our lives. They bring us so much joy.
Look at that sweet face checking out her little brother!
Here is the little squish face in his car seat for the first time. He seems way too small for such a large seat
Grandma Jana with baby Eli at the hospital
Dad and the sleepy man right after we got home.

Elijah Daniel: The Birth Story

I'd like to capture all of the wonderful memories from the day Elijah was born, so I am writing out his birth story. I am sure it will be long, so I may be the only one to read through the whole thing. :)

I had been having evening contractions for the few days before actually going into labor, so I could tell that it was going to happen fairly soon. I just kept waiting and waiting for them to get stronger and closer together. On Friday morning, around 4:30, I woke up with contractions that were decently strong and 8 minutes apart. I tried to go back to sleep but by 5:30 I realized I wasn't going to sleep through them and that they were relatively consistent, so I got up thinking that I could just start the day and we'd see what happened. I took a quick shower, which only made the contractions more frequent, so I got Pat up at about 5:45. By the time 6:00 rolled around, the contractions had moved to 4 minutes apart and I was getting a bit nervous about getting to the hospital. Pat called Chris to come watch Lucia right away and called Kathy so that she could head over to relieve Chris. Chris made it to our house in record time. I'm still not sure how he got here so fast. :) We left for the hospital at 6:45 and were checked into Triage around 7:15. By 8:00, they had determined that I was still only 2.5cm dilated and 80% effaced, so they told me that we could either head home or walk the halls for an hour to see if anything changed. Of course there was no way I was leaving, so we walked circles until 9:00. The contractions weren't too bad at the beginning of the walk, so I thought for sure that they would send us home but they got stronger and stronger toward 9:00. When I was checked out again at 9:30, I had only made it to 3cm but was fully effaced. The Triage nurse was debating about whether or not to send us home, so she checked with the on-call doctor who, thank the Lord, said that we could be admitted. It didn't take long for the contractions to really REALLY pick up speed and I was just shaking trying to work through them. They were coming fast and hard. I have no idea how anyone does natural childbirth! Anyway, I told the Triage nurse that I needed an epidural ASAP (such a pain wuss). She started moving a bit faster at that point and started the antibiotic drip for my GBS at 10:20 and I made it down to the birthing room around 10:30. I finally got the epidural and it was one of the more blessed moments in the whole process. :) I am so happy to live at a time where some of the pain of childbirth can be drugged away!

The nurse came in to check on me at 11:30. Pat and I had settled in for a lot of waiting. I had my crochet. Pat grabbed a late breakfast. It would not be long though because I had already progressed to 7.5cm! In 2 hours, I had made it 3.5cm. That was crazy fast. The "problem", however, was that I was supposed to be on the IV for 4 hours before giving birth. The target birth time was 2:20 or later. The little man was certainly not going to wait that long. The nurse started moving fairly quickly to get everything set up in the room for the actual delivery. My water had not broken, so we just tried to drag it out as long as possible. At 12:53, my water broke. Pat ran out to get the nurse and she started calling in the doctors. Elijah had been under distress at some point because there was baby stool in the water, so we had a respiratory doctor and NICU doctor in the room along with the doctor who was delivering the baby. The pain started to set in again after my water broke. It turns out that my epidural wasn't quite right. I couldn't feel my right leg at all but the crucial middle was only partially numbed. Again, I don't know how people do it without drugs! :) I started pushing at 1:03 and could definitely feel what was happening. Thankfully it didn't take long and Elijah was born at 1:08! He was whisked away to check for fluid in his lungs and stomach but, thankfully, he passed the test and he was back on my chest before the doctor had even finished with me. He was 6lb 10oz and 19in long and perfect!

It was so amazing to be able to hold him only minutes after he was born. Here is the first picture with me and then with daddy too.


The birthing process and the first few days was such an amazing time. I know that it is crazy, but I wish that I could relive it. I don't want it to fade from my memory. It seems like one of the most meaningful events in life. In just a matter of hours, God gave us a beautiful new son...a wonderful addition to our family. We feel so blessed to have him. He is tiny and amazing to me. God has been so faithful to us throughout this process. I just don't want the little guy to grow up. I want to hold on to the newborn stage and enjoy every little moment with him. He is our little miracle baby.

Pictures from our first day with our sweet man

I am going to try to write up the birth story in the next day or so but I at least wanted to post some of the pictures from the afternoon that our sweet Elijah Daniel Murphy was born. He has already filled our home and lives with so much joy. He is the sweetest little baby and we love him more than we could fully express. We are so grateful that God brought him into our family. We've been given such a wonderful life!

These are all just hours or minutes after he was born
This picture is right when they handed the sweet guy to me for the first time.
This was also minutes after he was born.

Walking and Waiting...

It finally sank into my brain that there is always the potential that I could go into labor after my due date. I've had my due date in mind as the longest that I would have to wait but after my last OB visit, I'm thinking I better set my mind to working on going into labor. :) I looked at my blog posts from this point in my pregnancy with Lucia and I was actually a bit more dilated and a bit more effaced at my 38.5 week apt. than I was last Thursday. On top of that, my OB said at least one week from last Thursday which would be only 4 days before my due date. Those few things have made me super motivated to walk walk walk myself into labor. I don't know if that is really possible, but I'm going to give it a solid try. So, starting last Thursday, I have been trying to walk at least a 1.5 mile loop around our neighborhood and, when I have time, make it two 1.5 mile walks during the day. Fingers crossed for an on time labor/delivery!

Lucy-isms

And for some funny Lucy thoughts...

1. When I lay down in bed with her to read, I use one of her stuffed animals to prop up my belly. The other day she told me that she needed her baby at dinner. I told her that she needed to wait until she finished her food. She responded with "but Mama, I need baby to prop up my belly!"
2. "Oh mommy, it's sunny outside. It's such a lovely day"
3. Every time she poops, she looks in the toilet and assigns an animal name to her poop: dinosaur, alligator, snake, rhino...
4. She saw a Thomas the train pillow at the grocery store today and said "Mommy, can we get that Thomas? He loves me so much!"
5. I was greeted this morning by "Can I have some candy please?". Not good morning. Not nice to see you Mom...
6. At the U/S last week, Pat was trying to tell her what body part we were seeing on the screen like his head and arms. She said, "but daddy, wear are his shoes?"
7. Last night we had lasagna with spicy sausage in it. Lucy stuffed a nice big bite of the sausage in her mouth, her face started to contort a bit and she said "Oh no, my mouth is getting sick!"
8. This morning she pointed at my belly and said "Is brother nudie pants in there?"
9. We were walking into the house from the garage this morning and Lucy was ahead of my holding open the door while I took my shoes off. I guess I was taking a while and she said "Come on buddy"

38.5 Week Checkup

I had my 38.5 week appointment today with only 11 days to go until the due date! My OB was back in the office, so it was nice to see him again. I just feel very confident in his skills. Sadly, though, no grand cervix news to report. I am still hanging out at about 1cm dilated and 1/3 effaced. He told me that he expected I would make it at least to this time next week before going into labor. That news really isn't a shocker, though, given my due date is still 1.5 weeks out. I am just crossing my fingers that the little guy isn't late! For now, I will enjoy his crazy kicking and trying to grab his little foot that keeps trying to poke out of my right side. My next appointment is next Friday, so hopefully I'll get the "any day now" news at that appointment. It is nice to know that I can just chill for a week and not get all worked up about every little contraction thinking it could turn into labor contractions.

It is a beautifully sunny day here, so I can't complain at all. Lucy is napping and I plan to take a nice long walk with her when she wakes up. I'll just do my best to soak in as much Lucia and Pat time as possible over the next week and be grateful for our little 3 person family. They are certainly a crazy lot of fun to be around. I love to sit back and watch the crazy unfold every evening when Pat gets home. Lucy eats up all of the attention and tossing around she gets from her genuinely awesome Dad. We are both so lucky!

I also managed to make an enormous pan of lasagna this afternoon to freeze. That will be great to have around after my mom heads home and we start thinking about having cereal and oatmeal for dinners. :) Cream of Celeriac Soup is on the list to make and freeze for tomorrow. Too bad we don't have a stand alone freezer in the garage!