A Trying Week.

As most of you know, it’s been a difficult week for us. The week started out wonderfully as we welcomed home our newborn son, Parker. He was born on Friday, May 1st and weighed in at a healthy 10lbs 2oz and measured 22 ¼”. After a one-night stay in the hospital, everything checked out perfectly for mom and baby, and we were able to come home. We spent the first few days home, getting back into the groove of life with a newborn. Luckily, Parker is a wonderfully content and mellow baby, and has made things easy for us.

On Thursday morning the phone rang; we were ALL still sleeping so it went to voicemail. Within a few minutes we checked the voicemail to find a message from our pediatrician’s office. The message was left by the on-call doctor, since our doc wasn’t in the office that day. The message said that one of the results form Parker’s PKU(heel prick) test had come back abnormal, and that we needed to bring him in as soon as possible. We immediately called the office and tried to speak with the doctor, who was now in with another patient and would have to call us back. Our heads were spinning as we tried to imagine what could be wrong. We went online and did a search to see what the PKU test screened for. It turns out that PKU is somewhat of a misnomer as the test now checks for a variety of diseases and disorders; it is actually called a “newborn screening test”. The list of exactly what is tested for varies from state to state, but everything we saw looked terrifying. The majority were either fatal or resulted in severe mental retardation and/or physical debilitation. Needless to say, we were very worried about Parker after this brief, but frightening web search. It was around 9:00am when we first heard from the doctor’s office, and they wouldn’t be able see us until 11:50! We asked if there was any way they could tell us what was wrong over the phone, but were told only that one of his tests was “abnormal”, and that the doctor was looking into it.

When we finally got in to see the doctor we were told that Parker had tested positive for something called Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). The doctor proceeded to tell us that she’d never heard of this before and didn’t have very much information for us, aside from a single piece of paper with a short description of VLCADD. It said that VLCADD is a type of fatty acid oxidation disorder, and that people with VLCADD have problems breaking down certain types of fat into energy for the body. It also stated that if untreated, VLCADD is fatal in infants.

Next, the doctor explained that a biochemical geneticist from Seattle Children’s Hospital had contacted her, and instructed here to check Parker’s heart and liver, and make sure he was alert and not lethargic. If everything checked out ok, we were to head immediately to see him at Seattle Children’s; if she found any problems, we were to go directly to the closest emergency room! Luckily, Parker checked out fine, and we headed straight to Seattle Children’s.

We ended up spending the entire day at the hospital. After checking in and being met by a triage nurse who checked Parkers weight and vitals, we met with the geneticist, who assured us that if we took the proper steps, and if all of the tests that they were going to run looked good, Parker would not only survive, but be able to live a pretty normal life. I won’t go into all of the details of what VLCADD is, I’ll save that for the experts (see links at the end of the post), but basically people with VLCADD are unable to break down certain fats into energy. At first this didn’t seem like such a big deal, until the doctor explained a few things. For this part we’ll need to take a trip back to high-school biology. Our bodies get energy from the food we eat. Energy from fat keeps us going whenever our bodies run low on glucose, their main source of energy. Our bodies rely on fat when we don’t eat for a stretch of time – like when we miss a meal or when we sleep. People with VLCADD cannot skip meals, and must eat a diet extremely low in fat. In people with VLCADD, these long-chain fats can build up in the system where they become acidic and lead to organ failure, often having a hardening affect on the heart muscle and causing it to fail. Also, those with VLCADD must receive special IV fluids if/when they are unable to eat due to illness in order to avoid hypoglycemia and/or metabolic shock which can lead to a coma.

After meeting with the geneticist we were sent off to get Parker’s tests started and asked to come back to discuss things further and meet with a dietician after the tests were complete. Parker was given an ECHO/ultrasound to check his heart, blood was taken for further DNA testing and to confirm the diagnosis of VLCADD, and a chest x-ray was taken. None of this was enjoyable for Parker, or us for that matter, but he was a trooper and calmed right down after each of the procedures. It was difficult to watch them poke and prod at him, especially the blood-draw, but we were very, very impressed with everything at Seattle Children’s Hospital. The facilities were incredible and everyone we worked with was great. After the tests were complete we returned to see the geneticist and dietician. The geneticist went over a few more of the basics of VLCADD and provided us with some informational resources as well as contact information for him and his partners in the event we had questions or concerns; he also provided us with a letter that we will need to carry with us at all times that informs emergency room doctors of Parker’s condition and the special treatment that he requires, as well as the importance of immediate care. He also gave us a prescription for carnitine. Next, the dietician informed us that Parker would have to go on a special formula and could no longer be breastfed as breast milk is high in long-chain fats, although she did prescribe a recipe for the formula that would allow for a small amount of breast milk to be added so that Parker could get some of its benefits (antibodies, DHA, ARA, etc). The formula is not available over the counter, has to be prescribed by a doctor, and will be delivered via FedEx each month.

Looking back on the past week there are a lot of things we’re grateful for:

1. We are grateful that Parker was born safely without complication and that he’s such a sweet and mellow baby.
2. We are very grateful that this was caught so early. They added the test for VLCADD to the newborn screening in Washington in July of last year, and Parker is the first confirmed case since screening began.
3. We’re thankful that we live so close to one of the best children’s hospitals in the country and that they have the expertise to deal with this disorder.
4. We are very grateful that Grandma Colleen (Wade’s mom) could be here with us this week. She was able to entertain Lucy while we were gone. She spent so much time cooking, cleaning and doing laundry…We really REALLY appreciate it. THANKS!
5. We’ve received a lot of support from family and friends. Not having our families close is difficult in times like these, but our friends and the members of our ward have done a wonderful job helping out.
   

Parker thought this was all a bit too depressing so he wanted me to post this little video so that we could end this post on a high note.



More info about VLCADD:
http://www.newbornscreening.info/Parents/fattyaciddisorders/VLCADD.html

http://www.fodsupport.org

http://www.fodsupport.org/brett.htm