I'm Michelle, mom to four wonderful and very busy daughters and wife to a hard-working father, Matt. We live in a world of princesses and dress up! Our youngest daughter Lydia (14 months) was diagnosed with Medium Chain acyl-coenzyme A dehydrogenase deficiency (MCADD) when she was about a week old. MCADD is about 1 in 15,000 among North Americans and is a recessive disorder, meaning my husband and I are both carriers. Essentially, Lydia is missing the enzyme needed to break down medium length fatty acid chains from food into energy for her body. Because she's unable to break down 6-12 length fatty acid chains, her body runs out of energy more quickly and she can't convert various foods into energy. For example, if she eats spaghetti noodles for dinner, her body can only break down the fatty acids found in the carbs until the chain reaches 12 links in length. At that point, her body has to dispose of the food without getting energy from the rest of the 12 fatty acid links. She can break down simple sugars if they are given to her in that form (like fruit or sweets) but she can't create short chains on her own. If she doesn't eat frequently, gets sick and throws up or has diarrhea, or stresses her metabolism in any way, she can end up in the hospital having a metabolic crisis which begins with lethargy and unresponsiveness and can progress to seizures, severe hypoglycemia and end in death. Currently she is allowed to go 8 hours without eating. When she is an adult, she will be allowed to go 12 hours maximum. If she is sick, even with a minor illness, that time limit is shortened. We love our little Lydia to the moon and back!
Michelle: Our pediatrician called us when Lydia was 6 days old, explaining that her newborn screening tests had come back abnormal and her c8 level was really high, and we needed to take her back to the hospital nursery to get some more tests done. I googled it after I hung up, of course, and the first articles that popped up talked about high c8 levels indicating the presence of MCADD which could lead to sudden infant death. I headed back to the hospital ASAP! What started as a phone call ended up with special blood and urine tests, lots and lots of phone calls, a DNA test and a consultation with a geneticist. The DNA confirmed MCADD for Lydia a few weeks later, which we had known anyway because her c8 levels were the highest ever recorded in the state of Ohio since they implemented newborn screening. Just a few days after meeting with the geneticist, she threw up a few times and we got to see what a metabolic crisis looked like at the beginning. I was completely terrified, but my husband, a nurse, stayed calm and helped reverse the crisis before we had to take her to the hospital. At first I was so scared that I'd sleep through my alarm and wake up to a comatose, or even worse, a still little baby. As time has gone on, my worries have eased a little bit. I'm not terrified of MCADD anymore.
Michelle: We haven't been in the hospital yet for a crisis even though we have had some close calls. So I'm nervous about when a hospitalization will happen, if we'll get there in time, if the doctors will follow our protocol letter, if she'll respond to treatment quickly, etc. My biggest worry though is about her managing MCADD herself. I hope we teach her well enough that when she's on her own, she will take good care of herself. I hope she won't pretend that nothing is different about her, because the consequences are devastating. I worry that she'll endanger her life by trying to be too thin, or engaging in unsafe behaviors that put her more at-risk than she already is. I worry about her accepting that this is a part of her.
Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situation?
A few links:
FOD Support Group: (Support group for fatty-acid oxidation disorders! Over 1000 members!)
Bartel Chronicles: (daily blog of a mom whose son has MCADD)
Thanks Michelle for sharing your beautiful girls with us today. I think your last piece of advice about not ever judging a book by it's cover sums up your whole post so well. Though Lydia looks "typical" on the outside, she is anything but! The fact that you constantly have a mental timer in your head keeping track of what and when Lydia ate, that you have to set alarms for yourself in the middle of the night to feed her, and asking others not to pick up your daughter to keep her safe from germs--all of these extra worries and stresses that fly under the radar so easily, yet underneath it all lies a very big medical issue that could have a catastrophic outcome if left unattended! Yeah. I'd say you are living proof that we should never judge a book by its cover! Also, I loved what you guys have found humorous in all of this--poop! Ha! I bet you never imagined that you and your Prince Charming would bond over something like that. :) Thanks again Michelle, your family is beautiful.
So glad to be returning to doing the spotlight. Whenever I take these little breaks, it always makes me realize how much I miss it! We have some good ones coming up in the next few weeks, so stay please check back. As always if you or someone you know would like to participate in the special needs spotlight please email me at thislittlemiggy at gmail dot com.
Have a great day!!