Wednesday, November 24, 2010

Having a Child with MCAD (Medium Chain Acyl Co-A Dehydrogenase Deficiency)

As you may or may not know, we have a beautiful little boy named Douglas. He was born on March 17, 2008. He is my third child, and my hubby's first and only. All the familiar things happened during his birth. Nothing remarkable happened. He was given eye drops, had his Apgar score given, and was deemed healthy and beautiful. The following evening, the nurse took him for a little while, to prick his heel to take blood for the testing that needed to be done. I wasn't unfamiliar with Newborn Screening, so I wasn't worried in the least.

We brought our little bundle of joy home, and began to learn to live with a wee baby in our household. He was born on a Monday. St. Patrick's Day. The joke is: " We had a part Dutch, part Native child born on an Irish holiday. We're pretty sure he already has a drinking problem!" (Sorry if this offends anyone.) We planned to leave our little man with our then 17 year old daughter on the following Thursday night so we could have a date night.

On Thursday, we started getting phone calls. The first one was from hubby's family doctor. We had intended for him to provide follow-up care for Douglas, and to be his doctor. The call was brief, but urgent. The hospital was trying to get ahold of us with regard to Douglas' blood testing. Something had come up. Try not to worry.

Yeah right. Then my doctor's office called. Linda put me on hold while she got the doctor to the phone. I have never had the doctor speak directly to me before. It seems that there was a 'screen positive' for something on the Newborn screening tests. They actually test for somewhere in the neighborhood of 30 different genetic conditions. Confirmatory testing needed to be done. Call this other doctor at the hospital and they will give you further insructions. In the meantime, do NOT let the little guy go without eating for more than 2 hours. Wake him up to do it if you have to!

WHAT?!?! I *thought* they said he was fine, healthy, ok to come home? What in Earth is going on? Having just given birth a few days prior, my hormones and emotions are already all over the place. What the **** is going on? I cried. Hubby cried. They kept saying MCAD. I hit the internet hard. We had to pull it together as it was Easter weekend. Our other kids were still expecting the bunny to bring gifts and chocolate.

Tuesday (8 days after birth) we take our precious baby for special testing. We meet with a medical geneticist, who explains that the Newborn Screening is a way to help determine if any child *could* have any of the medical conditions that they screen for. They *think* that Douglas could have one of two conditions, MCAD or GA-1. Until we know for sure, baby must be treated as though he has MCAD. If he becomes ill at all, bring him into Emerg. Feed every 2 hours, no exceptions. If you have trouble waking him, call an ambulance. Now go home, and try not to worry. HA HA HA!!

We cry more. Could we lose our baby to this condition? Yes. More crying. They talked about caloric intake, how illness can lead to a metabolic crisis, and cause some terrible things. Lethargy, seizures, coma, even death. Scary for any parent. Especially for hubby, being a first time parent. We felt like we were in a whirlwind of emotions. It's hard to enjoy your new baby thinking that any day could be the last already. With me being a funeral director, I already have more than enough of death in my life. I couldn't handle death coming into my home, my family.

Thursday, 10 days after giving birth, we go out for our date night. I am half way into a cold glass of beer, and hubby is up singing some karaoke. Some of our outer family are there, celebrating our sons birth with us. My cell phone rings. It's my daughter. Mommy, something is wrong with the baby. He's shaking, like a seizure. I can't get him to stop. I'm scared. What do I do? I signalled to hubby we had to go NOW!! I stayed on the phone with her while hubby broke the speed of sound driving home. The seizures had stopped, and his little eyes were open, but he was drained physically. He was limp, but breathing. He was grey in colour. We put him in his carseat and drove to the hospital.

I could write a whole separate post on just our Emergency room experience, but let me just say, they thought we were nuts. Probably thought we were overconcerned new parents. It was a fight to get them to call the medical geneticist. Then he had another seizure, while I was trying to feed him some sugar water. There was a flurry of activity, as they worked on him. I couldn't stop crying. I was thinking that my precious boy that I had waited 17 years for was going to die. Then he was stable again. That 10 second seizure seemed like hours. It was the longest 10 seconds of my life.

He was admitted to hospital. It turns out he had a urinary tract infection. The geneticist came, and talked with the chief paediatrician. They learned very quickly that our boy had a rare condition, and not to take our concerns lightly. This is how we found out that it was confirmed that our son had Medium Chain Acy Co-A Dehydrogenase Deficiency. His little body doesn't break down fats properly, nor does his body store fats. When he becomes ill, he has no fat stores to draw caloric energy from for his body to continue normal function. It takes the energy from his organs if he doesn't eat regularly. If this happens, there can be serious consequences.

Living with a child with MCAD has been a learning experience, for us and for the medical community in which we live. We have become parent teachers, speaking to groups of medical students of our experiences with Douglas. We stress the importance of listening to parents about their concerns. His condition is easily treatable, but sadly, not curable. Scientists have yet to figure out how to change the mutated gene in his DNA.

For children with MCAD, the first year is the hardest. After that, it gets easier to deal with. Many children have died from this condition. Many more live with treatment. We are thankful to still have our son with us. He will be celebrating his third birthday in March. We celebrate him everyday.

For more information on MCAD, try this link:

For more info on Newborn Screening, try this link:


  1. Wow! I've never even heard of MCAD. It's nice to hear that he's doing okay. I can't even imagine what you went through the first month of his life.

  2. Wow, what a journey. Thanks for sharing such an intimate part of your lives with us. I have not heard of this genetic condition. I pray your young boy continues to thrive over the years. He sounds like a very special boy.

  3. Hello! Hey there! My daughter has MCADD too! I swear that I searched for parent blogs with MCADD after my Hannah was born 2 1/2 years ago and I found nothing - now I just found 3 and I am delighted. Hannah is not one of the luckiest of MCADD kids - she had an actual metabolic crisis at just three days of age and so had a stroke and now has right hemiplegia, but CP doesn't hold her back much, she is a therapy success story in every way. And if anyone who has found you has an older child I am very interested in connecting to them too - I'd love to find a parent who could tell me how to beat that whole refusing to eat game! You can read about Hannah at We'd love to keep in touch.

  4. Hi, I'm so glad to find this page. A friend of mine Martina, in the Czech Rep., has newborn baby who was just diagnosed with MCAD. Unfortunately there is not much info nor any network or group in the Czech plus her English is limited. She would like to ask you (all the moms with MCAD babies) What was the hardest for you? What diet is like? Any helps with this diet? How do you cope and what to do with illnesses? She feels very isolated and alone. Please help with any tips and advice. You can contact me or herself directly on or her fcb Mara Nemcova Chloubova. Many thanks.