My Whole Life Job

The other day my oldest son and I were talking about the state of the world, and I mentioned how lucky we were that his dad still had his job. I wanted to put into perspective that although this is an extremely hard season we are in, as a family, we don’t have the extra added financial stress that some people do. Then my son, at nine years old, looked at me and said, “well, you still have your whole life job.”

My whole life job.

He then went on to say “and you basically work every second of every day, until you go to sleep.” And with a smile he said “you do go to sleep, right?”

Did I mention he’s only 9?

And he’s right.

Caring for him and his brothers is a whole life job. Especially Christopher. He has a rare genetic disorder, congenital disorder of glycosylation. He is severely developmentally delayed and is nowhere near the typical development of his peers. He’s nonverbal, cannot walk, has a feeding tube, and recently has been diagnosed with a seizure disorder.

Being his caregiver is a whole life job. Caring for him has no end.

As children age, independence increases. First, they’re pushing your hands away so they can do things themselves. Then they’re asking you to leave them alone in their rooms so they can talk to their friends. Next it’s the drivers licence, college, adulthood, and starting their own families. Most children grow and become independent. Most children don’t depend on their parents for everything their entire lives.

I know that being a parent is for a lifetime, but not all parents have this “whole life job.”

Not only are we caregiving throughout the entire day but our thoughts are filled with this “job.” We are always weighing every decision with our children in mind. For us, we always worry about illness. We are hyper aware that the next illness could be the one where we walk out of the hospital without our son. The one where we lose him. So, we take his health and wellbeing into account with every single decision we make. Almost daily, we advocate, research, submit paperwork, do home therapies, and more. And this is not just for a year or two. This is a permanent position. There’s no promotions. No switching departments. We can’t resign. There is no retirement.

This is for our whole lives.

As I let it all sink in, it felt heavy. “Whole life job.” It’s beyond exhausting. And not just, ​I need a nap exhausting​. There are days when caregiving is emotionally, mentally, and physically draining. There are days I don’t want to fill another syringe or feeding bag. Or days when my wrist hurts so badly it’s hard to clamp his extension. I have days when I wish I could close my eyes for just 20 minutes on the couch. Days when it all piles up on my shoulders and I don’t know how we’ll do it another day, another week, another year.

But then I look at Christopher and smile. Because he’s here. He’s thriving and happy. When he wraps his skinny little arms around my neck and snuggles in close, I know he’s telling me how much he loves me. This “whole life job” may be one of the hardest jobs I’ve ever held. But I also know that without a doubt, the rewards are far greater than any promotion or accolade. Although, the pain of the lows may be the most unforgettable grief I’ve ever experienced. The joy we feel, and the joy he brings is higher than any high imaginable. The lessons and perspective we have been taught can’t be learned anywhere else. Life with him is incredible.

When Christopher came along he changed our lives. He has made the greatest impact on his siblings. Teaching them compassion, empathy, forgiveness, and perspective on what is really important in life. Teaching all of us what really matters.

Christopher changed me. He changed my life when he came along. My whole life.

CDG Awareness Day

CDG Awareness Day is upon us. Our family is busy preparing awareness day t-shirts, gathering up our green shoes, and posting reminders on social media.

For us, CDG Awareness Day is an important day of the year. Our 7 year old, Christopher, has one of the many different subtypes of congenital disorder of glycosylation. He has PMM2, one of the most common subtypes of the disorder. And although it’s the most common, the symptoms that affect each individual can vary greatly. From head to toe, he’s affected. He has cerebellar atrophy, hearing loss, severe retinitis pigmentosa, an oral aversion, seizures, liver disease, fed with a GJ tube, osteopenia, hypotonia, developmental delay…the list goes on. But even with all of that, he wakes every single morning with a giggle and a smile. As I lift his 40 pound body and carry him downstairs, I know that there’s no place he’d rather be.

The other day I was preparing a sign for CDG Awareness Day, and our oldest son looked at me and said “we’re so lucky to be part of CDG.” Lucky. Not exactly a word I would have uttered when we first received our son’s diagnosis. My heart was broken. I was beyond worried and fearful for the future. No, I definitely wouldn’t have said we were lucky that day sitting in the specialists office downtown. But when our oldest said it, I smiled and told him that “yes, we are pretty lucky.”

The CDG community is like no other.

The CDG community is made up of fierce advocates, loving families, and amazingly strong friendships that blossom no matter how many miles are in between. Our son was recently intubated and in the intensive care unit after going into status epilepticus, and there was zero doubt in my mind that my friends from afar would have hopped on a plane just to sit with me and hold my hand. Because my son is theirs, and their children are mine. We are in this unique world together. There isn’t anything we wouldn’t do for each other. And I guess, that is pretty lucky.

May 16 will be here soon! Please help us spread awareness for children like Christopher, CDG angels, and all families affected by congenital disorder of glycosylation. More awareness means more funding, which could lead to treatments and possibly a cure. More awareness could help a family receive a diagnosis they are longing to find. More awareness leads to more research, resources, and improvement in the quality of lives for the individuals and families affected by CDG.

*Head over to ​CDG Care​ to see more ways you can get involved. Also, if inclined, please sign this ​petition​ for the World Health Organization to recognize May 16 as CDG Awareness Day.

The life we have been given

Someone recently asked me how long it took me to find a positive way of dealing with the diagnosis of our son. This is a tricky question because I know I have notoriously been a positive person my entire life.

My glass is (almost) always half full. But I will tell you that upon receiving our son’s diagnosis my cup was empty here and there, and I still have my days when my cup tends to tip over and before I know it I am in tears in my kitchen without warning.

Staying positive isn’t easy. Staying positive while caring for a medically fragile child is hard.

Keeping a “never give up” attitude day after day for years can be exhausting.

But I will search for hope in the darkness rather than sit there with my head in my hands.

I will lend a hand and lift up those around me even when I feel depleted. Because it’s my choice.

I have a choice, we all do. This is the life we’ve been given. The cards we’ve been dealt.

“You don’t have the right to the cards you believe you should have been dealt. You have an obligation to play the hell out of the ones you’re holding.” Cheryl Strayed

Our son was born with congenital disorder of glycosylation; a rare, life-threatening disorder.

He was not the child we planned. We had to let go of the person we envisioned him to be and the dreams we had for him.

Once we did that, we could celebrate the child we do have.

This is the hand we were dealt, and from day one, I have made a promise to him that I will play the hell out of this hand. I will do everything in my power to help him reach his full potential, whatever that may be.

And we will shower him with love and attention, practicing gratitude for each and every day we have the privilege of waking up with his smile. We will celebrate the triumphs, no matter how small.

We will hope. We will try it all. And we will love beyond measure.

Oh how I wish there was a timeline.

I wish I could tell newly diagnosed parents that in a few days you’ll feel better, or in months you’ll finally come to terms with this new life of yours.

And just maybe, in years you won’t envision all the things he “should” be doing. Or at the 100th specialist appointment you’ll drive home without tears stinging your cheeks.

But there isn’t a timeline, because it’s in you, and your timeline may look different than mine. And that’s ok.

We can be bitter, or we can be better.

Try to replace one negative thought with two positive ones.

I know that sometimes searching for that tiny glimmer of hope takes longer than sitting with your head in your hands.

But keep searching. We can choose joy or we can choose misery.

And one thing I know for certain, a joy filled life is certainly better than one filled with misery.

It’s in you to make those choices. Choose wisely.

Carrying the load

I was recently chatting with a friend about the beginning. The beginning of our journey.

The unknown, the search for answers, then the diagnosis. The crazy list of appointments that felt like they would never ever end. The tears in the shower. The fears. And the support.

The overwhelming support of family members, old friends, new friends, and even strangers.

For us, the support was so powerful and far more than we could have imagined. We had people checking in on us, bringing us dinner, and showing up in countless ways.

And then life happened.

Life gets busy and crazy. Years go by.

Life goes on, but our struggles haven’t ended. Our need for support doesn’t end. The appointments, the fears of the unknown, the worries, the tears in the shower…those don’t end.

What does happen though is that we (as parents) get so good at carrying the load.

We get stronger and somehow carry more than we ever imagined.

We get so good at showcasing the great days, highlighting the “wins,” and sharing all of the triumphs.

We get good at saying things like he’s stable. He’s healthy right now. He’s so happy.

And we don’t say things like I haven’t slept a full night in 6 years. I’m terrified of losing him.

We are struggling with anxiety and behavior. I’m struggling. Bathtime is getting difficult..carrying him is getting harder and harder….and so much more.

Because it’s been over 6 years.

And we should have a handle on things, right?

But let me tell you that we don’t always have a handle on things.

Some days it feels like I am thrust back right to the beginning.

We are still parenting that severely developmentally delayed, medically fragile child from the beginning.

We are still trying to navigate the world of unknowns and fears.

There are moments that the load is too heavy to carry alone.

There are days when the idea of forever is an enormous thought to think.

There are days I feel forgotten and alone.

The only thing that has changed for us is his age and our ability to carry the load.

You may be in the same situation.

And whether you are one year into the journey or 10, I want you to know that you aren’t forgotten.

I see you. I know that the struggles haven’t ended.

I know that your fears are still nagging you in the back of your mind.

And I know that even though you have gotten so good at carrying the load it’s still incredibly heavy.

I also know that sharing the load and acknowledging the struggles you face takes nothing away from the immeasurable love you have for your child.

It’s hard. Some days are harder than others.

And although you may feel forgotten along the journey, know that you aren’t, know that there are other moms like me carrying the load.

And on your hardest days, I’ll gladly add to my load if you promise to do the same for me.

As special needs parents, we carry a lot

Our bags and purses are full. We have to carry formula, syringes, medication, diapers, emergency protocols, datebooks, diapers and wipes, extra clothes, medical supplies, and more.

I know that at any given time I can fish around my backpack and find an extra g button, water flush, and drool bib. I can also locate some hand sanitizer or skin cream if necessary.

Not only are our bags full but our car is full too. We keep extra supplies along with our child’s wheels in the trunk of the car.

We have toys, books, and other “just in case” items strewn about our cars as well. I’ve learned my lesson and always keep a small amount of cash in the glove compartment in the event I forget my wallet, and have to pay for parking at an appointment for our son with change from the cupholders.

We have to carry a lot. It’s never easy to leave the house.

But what’s even harder is going to bed and unloading our shoulders.

First we have to take off the worry. Did I make the right decision? Did I do enough today? Did I do too much? Did I spend enough time working on his strength or his fine motor or his communication? Did I spend enough time just being “mom” instead of nurse or therapist? Am I honoring his wants and needs?

The worries take awhile to take off.

Then there’s the fear. What if?

What if he’s coming down with a cold? Should I have taken him to the busy fair or park or museum where the germs are everywhere? Will I regret the choices I made today? What if he never says a single word or walks? Or much worse, what if we lose him?

The fears are really hard to unload.

Let’s not forget grief and sadness.

Grief of seeing other children doing the things you wish your child was able to do. Grief of knowing your life is not what you imagined. The sadness of watching your child struggle daily to do a simple task or activity. Sadness knowing there are countless things your child will not do in life.

Somedays sadness doesn’t like to come off either.

There’s more, depending on the day. Jealousy, anger, frustration, and loneliness.

Unloading the things we carry can be difficult. And sometimes we carry it around so long that it just becomes part of who we are.

There are extras we carry too. These are the most important, the ones I try to load up on when I wake.

Every morning I walk to our son’s room to pick up his 35 pound body and carry him downstairs, and with each step I can feel it.

As I make my way down the hall and down the stairs I start carrying more than just him.

I carry gratitude.

I hold on tightly to joy.

I love deeper than I ever thought possible.

I am forever proud of who he is and who he shaped me to be.

I hope.

We carry a lot. Yes, there’s a lot we’d like to unload as parents of children with special needs, plenty beautiful but there’s extras we gladly carry.




Why Not Us?

I’ve read a lot of blogs lately regarding the beginning.

The diagnosis.

I remember our diagnosis day vividly. I recall wanting to wrap my baby in my arms and run from the neurologist’s office.

I had no idea where I wanted to go or when I would return, but I just wanted to run. I was terrified. I had no idea what life had in store for us and the more I googled the more terrified I became.

But the one thing I didn’t ask was “why me?”

I’m not saying this because I think that anyone is wrong for screaming why me at the heavens, but I do think adding one more small word to that question changes perspective completely.

When our son was diagnosed with his rare genetic condition, PMM2 congenital disorder of glycosylation, it was not a great time in my life.

I had just lost my dad tragically a few months before, and to be honest, I don’t think I ever had the time to truly grieve that loss. He was allergic to bees and passed away after a sting.

The odds of dying from a bee sting: 1 in 6 million. Rare.

When he passed I was so consumed with trying to figure out why my 5-month-old couldn’t hold his head up or why he was still at birth weight.

I didn’t have the time to let myself lose it, I was so worried about our son. But during that time one thing really sunk in.

It was that I wasn’t immune to tragedy. I was just like everyone else.

And then we got our son’s diagnosis. Again, something rare. I think this is when my perspective really changed.

I began to ask why not us instead of just why us?

When you add the “not” into why me it changes your perspective. Asking why me almost seems as though you think you don’t deserve or shouldn’t have any challenges.

Now, I get it. Sometimes it seems that you can do everything right and still feel like you’re being dumped on.

Sometimes you see others who you feel may not have any challenges in life and life seems to go their way all the time.

And there’s always the person who’s not as nice as you or has made so many wrong decisions in their life but it seems that they still “have it all.” But we all know that’s not true.

Especially in the time of social media we are only seeing everyone’s highlight reel.

Everyone is fighting a battle or has a tragedy that we know nothing of.

Screaming why me is completely normal. I’m not here to say that it’s not. Especially when it’s your child or happening to your family.

Lord knows I was not very happy with the man upstairs for loading me up with more than I felt I could handle. I know life is going to throw all kinds of things our way.

Life is completely unfair. There will be so many instances in life when you want to scream why me?! But I challenge you to add one small word the next time something unwanted comes your way.

Asking why not me definitely changed my perspective.

I’m not immune. I’m not better or worse than anyone. I don’t deserve more or less than the next person.

My extended family is kind, and understanding. Our family is very close, accepting, and so loving. One thing I know for sure is our son is definitely right where he needs to be.

So, why not us?

The Contract We Sign

My son recently had a procedure at the hospital where we needed to be there for an extended amount of time during the day.

We were laughing and chatting it up with his nurse and then the subject of having children came up.

The nurse said she knew she wanted kids but then she gestured to the hospital and said: “but when you have kids, you sign up for this.”

As a nurse, I’m positive she has cared for extremely sick children and she likely has seen children who never get the opportunity to return home. She has seen it all.

I kept thinking about our conversation after we left the hospital, and she’s right. You do. You don’t realize it but you sign up for all of it.

You don’t just sign on for the sleepless nights during the infant years.

You don’t just sign on for wellness visits and milestones met.

You don’t just sign on for the adorable baby babble turning into first words of mama and dada.

You don’t just sign the dotted line for “typical.”

That’s not how it works.

There is an unwritten contract that you don’t even realize you signed the second you have your child. Because you don’t get to choose, you don’t get to predict and plan their life.

There isn’t a multiple choice contract where you pick oral eater or tube fed. Choose to sleep through the night at 6 months or insomnia.

Milestones met right on schedule, delayed, or never met. No choices. We sign up for it all.

We don’t get to decide. But we do have an obligation to our children to step up, show up, and never give up – no matter who they are.

When we had our second son, I had no idea what was ahead of me

I was blissfully unaware that I signed on for “all of it.” He was born with a rare genetic disorder, congenital disorder of glycosylation (PMM2 CDG).

He is almost 6 years old and still has many milestones he has never met. His disorder affects him from head to toe, and he truly will never be “out of the woods” when it comes to the surprises and curveballs we are thrown.

I signed up for all of it.

I signed up to wheelchairs, gait trainers, and standing frames.

I signed on for severe developmental delay.

I signed up for therapy appointments year after year.

I signed on for specialist visits and care management.

I signed up for procedures, surgeries, and hospital stays.

I signed on for a life of advocacy and spreading awareness.

I also signed up for perspective, authentic joy, and unconditional love.

We all do. Every one of us, all of us parents, unknowingly sign up for all of it.

Our son is who he is because of “all of it.” Without “all of it,” there is no him. Of course, I would give anything to take his pain and struggles away.

I would also love to hear him say I love you and countless other things.

I can wish and hope for things for him but I can also love him fiercely for who he is.

And if I knew ahead of time, I wouldn’t hesitate to sign on the dotted line.

Our First Seizure

Our son had his first seizure recently. We were aware that these episodes could be on the horizon for him.

We knew that he was at risk. But as the years and days went by I thought that perhaps we would escape them.

We would be the lucky ones who didn’t have these in our life.

It was a regular evening, just hanging out at home. I was snuggled on the chair with our oldest while our youngest was asleep.

Our 5-year-old, who has PMM2 CDG (congenital disorder of glycosylation) was happily winding down, laying on the floor, watching one of his favorite shows.

I heard an odd sound coming from him so I quickly went to him and scooped him up.

It was then when I held him that I knew that something was very wrong.

He was completely lifeless and unresponsive. I immediately told my husband to call the paramedics. I patted his face and called his name over and over to get a reaction.


I lifted his arms up and they slammed to the floor. I laid him on his side to monitor his breathing and to ensure he had a clear airway.

My husband described it best, his body was like jello in a pillowcase.

Our little boy was not there.

I remained calm but in my head, I kept screaming not today. Not today.

Time went on and we loaded up in the ambulance for our ride to the hospital.

After twenty minutes or more he started getting agitated. I could finally breathe. He was coming around. Our little boy was back.

It was one of the most terrifying and isolating incidents I’ve ever gone through.

We were the only ones to witness our son’s face changing colors and his chest barely moving. We saw his fixed expression as I carried his lifeless body out to the ambulance in the snow.

We then had to tell doctors over and over what had happened, and my descriptions could never do justice the traumatic experience.

I wanted them to feel what I was feeling. I wanted them to see what we saw.

I wanted them to assure me that this was a “one-time” incident. But they can’t.

They can only prepare us for more. I even felt isolated among my friends. I was met with questions of “are you sure that’s what it was?” I have never felt so alone.

It’s already isolating when you parent a child with a rare disease, but this incident only made me feel as though my island was getting even smaller.

It wasn’t until the next evening that I took a drive home while my husband stayed at the hospital and I allowed myself to break down.

After holding it in for a day, I cried the entire drive home. I called a girlfriend and let it all out.

I even had quite a few choice words to say. Cursing and tears. So many tears of fear, worry, and relief.

Now we have this to worry about which scares me tremendously but most of all I was so grateful he was ok.

I took comfort in connecting with other parents who have had similar experiences. Texting and messaging them meant more to me than they’ll know.

I felt validated and started to feel less alone. I was so grateful for everyone who reached out to our family during this time.

The notes of encouragement and well wishes didn’t go unnoticed.

So, we had our first seizure. It’s over. I’m still processing it and every now and again I go back to that night.

My mind goes back to those awful thoughts. My chest tightens as I imagine holding his lifeless body.

But then I go hug his squirmy little body and kiss his warm neck just to hear his giggle.

I sing songs with him just to see him smile.

I remind myself that every day with him is such a blessing and no matter what curve balls life keeps throwing at us we’ll manage them head-on.

All we can do is prepare for another. And be grateful for every single day.