Parker Austin

I wanted to share Parker's life with other parents of kids with MCAD. Especially the parents with new babies and who are probably scared to death, just like I was. I cannot stress enough that MCAD is a totally treatable deficiency!

Parker Austin William was born during the worst heat wave Vancouver has ever seen. He graced us with his presence on July 28th 2009 at 6:52 pm. He was a perfect 7lbs 5ozs and 20.5 inches long. He was awake and alert and latched on the first try. We were sent home at 7pm on July 29th. His big brother Jackson was very happy "his baby" was home. He slept for 4.5 hours that night... little did I know, it could have killed him. I spent the next two weeks taking care of him as any new mom would have. And living by what my mom always said, " Never Wake A Sleeping Baby." It scares me to death every time I think about the first 2 weeks.. because I don't even know how many times I could have lost him, just by letting him sleep.

On August 11th, I got a phone call from our doctor, telling me Parker needed to go back to the hospital and get more blood work done. That afternoon I took the little guy up there for more blood tests. While I was there, my doctor came to see me. She gave me a stack of papers and told me to read it all very carefully. She said she wasn't 100% sure, but his newborn screening came back with a positive test for MCAD deficiency. She explained as best she could what MCAD was and how I could treat it. She said in her entire medical career she had only seen one other case. We talked about his treatment plan, which at the time was only to feed him every 3 hours and to take him straight to the hospital if he got sick of refused to eat. Then she sent me home to wait for blood results.

I went home shocked, scared and with a million questions. I walked in the door crying my eyes out and told my mom everything and handed her the papers. After the shock, I did what any normal parent does... I didn't put the baby down, and I researched everything I could until my eyes hurt and I was so tired . I tried to be smart about my research, because the effects are plastered over the beginning of every website, it scared me to death... but I kept remembering that those effects will happen if the disease is NOT treated. I told myself over and over " we are treating him, he will be fine.. we are treating him, he will be fine." It's is so hard not to scare yourself while looking up diseases on the internet.

On August 20th 2009 we had our first meeting with B.C Children's hospital. His blood test had come back again positive for MCAD, so the needed more blood to send to a special hospital in Seattle.
We again went over his treatment plan and they explained in great detail what MCAD is.

This is a summary of MCAD that I come up with:

MCAD deficiency stands for Medium-chain acyl-coenzyme A dehydrogenase deficiency. We digest and break down a bunch of different chain fats in our body and turn them into energy. Parker is missing the enzyme in his body that breaks down the medium chain fats. Since he cannot break down that chain, he cannot go a long period of time with out food (fasting). If he doesn't eat frequently, his body will run dangerously low on energy, which could send him into a metabolic episode (kind of like a diabetic) such as seizures, coma, liver failure or death. These symptoms can happen very rapidly, so I also have to watch of for vomiting and lethargy, as they can be warning signs of a metabolic episode. MCAD is very dangerous when he is sick. The body uses up more energy when it's sick so Parker has to eat even more frequently than his normal frequent eating schedual. MCAD usually presents it self in newborns or children once they start sleeping through the night, or when they are sick and can rapidly get worse almost undetected.
Untreated MCAD can kill 25% of suffers in the first metabolic episode. Out of the remaining 75% ; 50% of them would most likely have brain damage. MCAD is genetically passed through both parents. We are both carriers of the disease, and every time we have children we have a 25% chance the baby will be perfectly normal, 25% chance the baby will have it, and a 50% chance that the baby will carry the disease. One out of 10,000 - 12,000 (although some sites claim it to be 1-17,000) live births will have MCAD, making it a rare disease. It has only been screened for in British Columbia since 2003. There have been many cases of MCAD related deaths before and after 2003, as a result of not screening for it in certain places. It has gone undetected in some teens and adults and has claimed many lives. I was lucky enough to live in a place that screens for it, and provides the newborn screening. MCAD is a silent killer. It is assumed that 1% of all SIDS deaths are MCAD related.
When treated, MCAD patients can lead normal, healthy lives. Babies with MCAD will be put on a feeding schedule which can be adjusted in time depending on weight and age. They are given a dose of L-Carnitine several times a day, which breaks down and clears out any medium chain fats. They are given polycose (like a sugar) when sick or in need of energy. They are given emergency letters that tell hospital staff what to do if the baby or child is sick and not eating. They are closely monitored through their childhood and anytime they are sick.




On September 24th 2009, our blood tests from Seattle were back and MCAD was confirmed. I spent that evening crying and hugging Parker. I have never been so disappointed, happy, relieved and scared in my entire life. All my feelings were so conflicted. I was so upset that he really did have it, I was relived we knew what it was, happy that I could keep him healthy and alive and scared that I might not be able to keep him healthy all the time.

November 20th 2009 was our second meeting with the metabolics team at Children's Hospital. We started him on Carnitine, took more blood, and went over all the protocols again. I left there feeling much better about the whole thing. 14 lbs 12 ozs

January 6th 2010
Another trip to children's hospital. This time for a routine EKG, Echo and an ultrasound of his liver and kidneys. This is to make sure his organs are functioning properly and are not enlarged. He was great!!! He smiled at all the doctors and never cried once. They said he was the easiest baby to give an ultrasound too. He made me very proud.

January 26th 2010
Our first appointment with our Pediatrician. Dr.Robertson is amazing. She is a very sweet woman and very concerned for us. Unfortunately, Children's hospital hadn't sent over Parker's information so she was very confused on why he was there. It's was a long appointment of me explaining everything since Parker's birth. Starting solid foods!!!

February 24th 2010
Another meeting with Children's hospital. His medication dosage was changed and we took another blood test. :( 3 needles We discussed his eating pattern and solid foods. The doctor was very upset with me for feeding him less than an ounce of water... apparently water does nothing for him so I should not feed it to him. They are concerned about his weight gain and would like me to feed him more and see a lactation consultant.

February 27th 2010
Children's hospital called, Parker's blood test came back saying he is Dehydrated!!!! More blood tests done at Lions Gate hospital :(:( 5 more needles

March 1st 2010
Appointment with Dr. Robertson to discuss blood tests. Apparently he is more dehydrated and needs to go in and get more blood tests and be seen by a blood specialist. Our plan is to feed him more often until we see the blood doctor and get those results back. Weight 16 lbs 8 oz.


Parker is now 7 months and is developing great. Despite the slow in weight gain, he is doing wonderful. He loves his big brother, he loves to eat and is a very bright and happy baby. I will update this as much as I can after every big appointment and milestone. I know we are not out of the woods yet, but Parker is already proving to be a fighter.