Nate’s Story

How did you feel when your children received a diagnosis of GM1 gangliosidosis Type 2A (late-infantile gm1)?

The day that Nate was first diagnosed with GM1 gangliosidosis was one of the hardest days of my life. Hearing this wasn’t anything that I could have ever prepared for.

The journey to get to this answer made me feel almost numb to bad news, I grew to expect it. Though, at least in the early stages of our journey to diagnosis, with every new appointment and every new specialist we met, we had some hope to cling on to. Maybe they’ll give us good news this time, maybe it’s not so bad, maybe it’s not the end of the world. And ultimately whatever it was, we were going to take it one day at a time and do whatever we needed to do for Nate.

But it was the end of the world, at least for us, for our world. No matter how much I knew that the news we would receive, in my heart, was going to be bad, I had no idea how bad. I thought no matter what it is, “I will be strong for Nate, I won’t cry, not in front of him” But as soon as the doctor said the words, “this is a fatal disease” “10-12 years …” “no cure …” I broke … I couldn’t keep it together.

Hearing that he not only will never be able to walk again but, that he will lose the ability to do everything that he could/can do until his body could no longer do anymore…

Not knowing really how long we will have with him, nor how quickly or severely this will change him and how greatly it will affect his life…

My heart ached.

For the life he would never have and for the life we would have to prepare for.

I grieved.

For the life that I had always dreamed of for him, knowing he would never get that, he would never even get to do the little things that you wouldn’t even realize you take for granted. Something as simple as a hug and getting to hear your child say, “I love you.”

For the things he would lose and had already begun to lose. The walking, the talking, the laughter, the smiles, the littlest interactions. All things he has already lost so much of in just the span of a year from his diagnosis and the year trying to get to the diagnosis.

How has GM1 gangliosidosis affected your family?

GM1 has impacted our family in every way. We have rearranged every aspect of our lives to meet Nate where he is every step of the way, whether financially or logistically, we make it work for Nate. Emotionally, we have good days and bad days. We try not to let a lot of the sadness, anger, or grief spill out in front of Nate, though sometimes it just does. I don’t want that to be all he knows about his mom and dad. I want him to know our laughter and our smiles more than our tears.

We want him to have as many happy moments as possible to try to outweigh the sad ones. We want to be able to find joy in all moments with him, even when it feels impossible to smile or not to cry.

We focus a lot on enjoying the time we have together. We love more fiercely because of it. We make more memories. We treasure our time together here with Nate and want only to make sure that his life was full of love, laughter and enjoying life in every step of his journey with GM1.

Meeting Nate where he is at, doing whatever we can for him to have as much of a “normal” life as possible while still taking his comfort, abilities, and risks into consideration because, this is normal for him, he doesn’t know anything else. We just find a way to enjoy things that make sense for him to enjoy too while still having him apart of many typical things too. He has friends that want him apart of everything, that don’t look at him as less, and just love who he is.

Nate isn’t his disease. His disease is a part of him but not the only part of him.

what is the most difficult part of being a gm1 caregiver?

Being a first-time mom, this is the only way I know how to “mom.” I had 18 months of a typical child but, once his walking plateaued and then began to get worse the medical journey ball started rolling down the hill.

I wouldn’t trade being my son’s caregiver for the world, it’s an honor to be able to care for him. Though, I would trade places with him, sell my soul to heal him, anything I can think of for him to not have to go through this. If there were a price to pay for him to have everything, I will pay it. However, this is the life he was given, and the only thing I can do is love him and take care of him. We live every day like it could be the last because, you never know what tomorrow will bring.

I feel helpless most days and I think that’s the most difficult part about being his caregiver. Taking care of him is my job. I would do that regardless if he had GM1 gangliosidosis or not. I love learning how to be a medical mom knowing that everything I do is for Nate to be healthy, comfortable and loved. Even though it’s not a life I would have chosen. Its taught me patience that I didn’t know was possible to have, control when life feels out of control, and a protection for my child more severe than before, and a love I didn’t know was possible to have. That love comes from being a mom anyway but, I would say it became more intense with knowledge of a timeline in place. Every day matters more.

But, knowing that no matter the medications, the treatments, the therapies, no matter everything that I do for him, it won’t change the end result. I feel like all I can do is love him and while that is enough for me to get to be able to do that, its painfully hard watching him lose the little boy that he used to be and knowing the fate ahead of him.

I’ve been blessed to have the people that have been placed in our lives for Nate along this journey, that have made it that much less stressful, that have fought for us and helped us have in place the things we would need to care for him and continue to be there along the way. But, there are many things as his caregiver that no one else can help you prepare for. We haven’t begun to prepare yet for his end of life plan but, that is something in our near future that we will have to start planning for, sooner rather than later, and that’s something I believe no parent should have to go through.

Knowing one day that you will be at your own child’s funeral…the feeling of being helpless to prevent that from happening, that’s the hardest part of being a caregiver to a child with GM1.

What do you wish people understood more about rare diseases?

Rare diseases, though they are rare, they are real and there are so many that exist. People who are lucky enough to never have to experience them I don’t think can quite grasp the life they take for granted. When parents get to be upset with their children for throwing a tantrum, running around crazy, misbehaving, making a mess, saying “mom” or “dad” over and over again, etc. Those parents don’t realize the privilege that is, that out here there are parents of children with rare, life-ending diseases, that will never get to experience those things at all or will never get to ever again. Those parents of healthy children, they don’t know, they aren’t aware of those things, nor is it something that you would think about if it’s not happening to you. I know I didn’t.

Rare diseases aren’t like cancer, where everyone knows about it, there is funding from charities all over the world in order to help treat and attempt to cure cancer. It has the attention of the world, it deserves to. Cancer is devastating and affects so many lives. But so are rare diseases.

Our community just suffers in silence with a quiet and limited voice of awareness. Rare diseases aren’t prejudice. People of all kinds are affected by rare diseases. Babies, children, and adults. It’s just rare. The type of rare disease being the only distinguishable factor on the knowledge available and how much can be done.

When you go to the doctor for your child whether it’s the ER, checkup, any reason at all and every single doctor you meet knows less about the disease than you do, asking you what to do, or not being able to answer your questions without a question mark at the end of their answer, leaving you unsure and scared. Unless you’ve been there, you will never fully understand what it’s like to live in the world of rare disease.

Why should people support the Cure GM1 Foundation and rare disease resarch/advocacy?

Supporting the Cure GM1 Foundation and rare disease research could mean the difference between life and death for some. If there were more knowledge about rare diseases such as GM1 we may be able to get families earlier diagnosis, earlier treatments, more educated doctors and professionals to help more efficiently and effectively guide families on this journey, and maybe even one day find a cure for those affected.

Too many are lost from this disease and other rare diseases because there isn’t enough knowledge about them and by the time it’s even in the conversation it’s too late.

Our community is too small, and those numbers may not seem large enough to the government or those not affected by the rare disease world but, they’re not just numbers to us, they are our children’s lives. There needs to be more out there for them. They need to be heard though they can’t speak for themselves.

We have to speak for them.

if you could tell people one thing about gm1 gangliosidosis, what would it be?

GM1 gangliosidosis, if there was one thing I could tell people about it, it would be how devastating it truly is. No one thinks that this could happen to them until it does. Then the next thing you know you’re watching it take away your child a piece at a time. Every part of them until they are gone. And there’s nothing you can do. To know you were statistically more likely to not be in this situation than you were to be in it at all… 1 in every 100,000 to 200,000. It doesn’t feel possible until it is.

Is there anything else you would like to add?

Nate is the light of my life, my reason for waking up every morning. I fight for him, I smile for him and because of him. I didn’t know the extent of love you could have for one person until God brought Nate into our lives. I didn’t realize the strength I possessed until I was told Nate had GM1 and what that would mean for our lives and most importantly his life.

Nathaniel, Nathan, Nate, Natey bug, Nate dawg, Nate the great, baby Nate and my turtle. A boy known by many names and so many personalities. He is the happiest little boy in the world and touches the lives of everyone he meets in a way that just can’t be explained. Our world is brighter because of the light that he brings into it and he will always be that light in our lives. No matter where life takes us.

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Your support can help families like ours find hope and advance research toward a treatment and an eventual cure for those living with GM1 .