Special Needs Spotlight: Lydia

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!

***************

Miggy: Can you take me back to the day you found out about your daughter Lydia’s metabolic disorder? Was this at birth, or sometime after? Were there signs and symptoms and how long before you received a definitive diagnosis? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?

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.

Miggy: Explain how your Lydia’s needs affect your day-to-day life?

Michelle: We are very lucky in that MCADD is a relatively easy disorder to manage for Lydia. There are many worse metabolic and other disorders. Day to day is fairly easy as long as Lydia is healthy. Like I said, she’s cleared to go 8 hours now without eating. That means I still get up at night to feed her (I set alarms), and will for a long time. If she gets sick (or when she gets vaccinations), we are on high alert. We have feed her every couple hours, monitor her very closely. I am more cautious about her getting sick, so we avoid situations where I know there’s a lot of illness (like hanging out with friends who have a sick child, or taking her to the childcare at the gym). We have to do her vaccinations in shifts, because we can’t overwhelm her immune system too much. And of course, I’m always thinking, “When was the last time she ate? What did she eat?” I have a mental timer in my head all day long.

Miggy: What are the biggest worries you face for your Lydia?

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?

Michelle: Lydia has always had very odorous and strange smelling bowel movements. Even as a newborn, her BMs smelled like those of a sick adult. This has led to some hilarious moments in public when Lydia passes gas or fills her diaper and other people around us stare at us like we did it! A few times, we’ve had people feel nauseated because of the smell, and they have no idea it’s coming from our daughter! It may not be funny to some, but those looks we get are SO funny to us! It’s hard to keep a straight face in church when your daughter is stinking up the room!

Miggy: How can people best approach or respond to Lydia? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Michelle: Because Lydia’s disorder isn’t physically apparent, we haven’t had to deal with this much yet. The biggest awkward moment is when people want to hold her (because she’s so cute!) and I won’t let them. I try to be nice about it, but some people still try to reach for her. I guess I wish that people would just take me at my word when I say that we try to avoid introducing lots of germs and to please, please don’t try and grab her out of my arms or touch her hands or face. Also, I love to talk about MCADD and Lydia. Don’t be awkward and avoid the topic! If you have a question, ask. I much prefer people asking too many questions than just saying, “Oh, that’s nice…..” and then avoiding eye contact.

Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to your son/daughter?

Michelle: Obviously this disorder is very difficult to explain to our other daughters (ages 6, 5, 3) so we have kept it at a simple “she needs to eat frequently and we have to be careful when she gets sick.” However, our oldest daughter and Lydia have a very special relationship. Lydia frequently prefers her over my husband! Our daughter will play with Lydia when she’s crying, get her snacks when she’s fussy and cuddle her when she needs a cuddle. I love this special bond and encourage it, so that Lydia will have someone else besides me to support her in living with MCADD.

Miggy: Are there some preconceived notions you had about having a child with special needs that have changed since becoming Lydia’s mom?

Michelle: I have had some very close friends with special needs daughters so I though I knew a lot more, but I have learned that every child is different. Even within the realm of fatty-acid oxidation disorders, each child’s body is affected differently. One child with MCADD may never have a metabolic crisis, and another will be in and out of the hospital all the time. I think one of the biggest things I’ve learned has been that having a special needs child affects the whole family. This last year has been one of the hardest our family has faced and MCADD has been a big part of that challenge. From my fatigue and stress, to Lydia’s more frequent (and distant) doctor’s appointments, to my other daughters having to wait while I feed her again, to my husband who listens to my worries and keeps things running when I’m too tired– our whole family has been affected. And hopefully we’ve learned to help each other and rely on each other more.

Miggy: What is the biggest lesson you’ve learned since becoming a special needs mom?

Michelle: I have learned that you can never, ever judge a book by its cover. We all have our struggles and our trials. Lydia’s disorder isn’t visible, but the stress it sometimes places on our family is incredible. You never can tell what kind of challenge a person is going through, and so the best response to almost every situation is to show kindness and love. A smile or a kind word goes so far on those days where I am worried sick about her, or I’ve been up every hour through the night. If people could just be kinder to each other, think about the heavy hearts we could lift! Even if that person’s challenge seems pithy to you, it is a real struggle for them. Every single person needs love and support, even if it seems like they’re strong.

Thanks Miggy!

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)

Wikipedia article

***************

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!!