Nathan

This is a personal story shared by the parents of a child with Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD).

It all started on the afternoon of January 26, 2005. We were visiting my cousin’s house so that our children could play together. While the children were busily playing upstairs, we heard one of the younger children saying repeatedly to my son, “Nathan wake up, why are you not talking?”

My cousin and I decided to go upstairs and check out the situation. When we got upstairs we found my 8-year-old son Nathan in an unresponsive state. I called the Tele-health phone line to speak with a nurse. I told her how Nathan was not responding, and she suggested that we take him to the hospital. While we were getting ready to take Nathan to the hospital, he started throwing up. It was at this point that we decided to call 911.

When the paramedics arrived they told me that Nathan had experienced a seizure. I was shocked and frightened. I could not understand how this could have happened.

Upon our arrival at our local hospital Nathan started to seize even more. There was a lot of commotion. The medical staff rushed him off to have a cat scan. His seizures were getting worse. All I can remember is the on call pediatrician saying “He is a very sick boy and he will need to go to Sick Kids Hospital right away!” I was stunned; to think that only an hour ago Nathan had been playing with his cousins. Now suddenly my son couldn’t even open his eyes.

Nathan’s seizures would not relent so the doctors decided to put him into a drug induced coma. It all happened so fast. After wards they air lifted Nathan to Sick Kids. We set off in our vehicle to meet him there.

When we arrived we learned that Nathan’s condition was not getting any better. While in the coma he developed a touch of pneumonia, his liver and spleen were enlarged and his kidneys were dry. The doctors ran every test imaginable but all of the results came back normal.

At that point they decided to stop the medications that had induced Nathan’s coma.
He did not respond well to this course of action either. It took a few days for him to wake up. The process was very slow and frightening.


Eventually two weeks later, Nathan’s health improved and he was deemed well enough to go home. We brought him home with much anxiety, as the doctors were still not able to explain to us what had caused Nathan to have this crisis. We were cautioned to bring Nathan back to the hospital if we were at all concerned about his health.

While at home, Nathan was still not quite himself and he was having many headaches and pains. We decided to err on the side of caution and took him back to the hospital for further examination. It was then that we were told that our son has a rare disorder called Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCADD). We were advised that in most cases this disorder is very easily treated with dietary management and the avoidance of fasting. The key to managing the disorder we were told is knowing that you have it.

We later learned that Nathan could have been screened for MCADD as a newborn and it most likely would have been detected. With early detection we would have known about his disorder and this life threatening crisis most likely would have been avoided.

Now that we know what MCADD is and how it affects Nathan we can manage things better to avoid another crisis. We are so thankful that our son survived this life-threatening crisis. We cringe to think of how close we came to losing him.

Nathan is doing well. He is enjoying school and has many friends. We take things one day at a time and are slowly getting things back to normal.


Yolanda Sampson and Shane Sampson
Parents of

  • Nathan 9 years old – MCADD
  • Joshua – carrier

 

 

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