My 4-Year-Old Has a Terminal Illness… My 10-Month-Old Might, Too

Already handed a death sentence for one daughter, I wait to find out if my other child has the same disease.

It was only weeks ago that my husband and I were handed a death sentence for my sweet gift, my 4-year-old Abigail. Now we await the results to find out if our 10-month-old Sadie has also been dealt this terrible fate.

The sentence comes in the form of a genetic disease, a monster called Sanfilippo Syndrome. And the thought that we might have been dealt not one, but two blows from fate is nearly too much for anyone to handle. God please spare my Sadie! She has a 75% chance of not having it… those are good odds, right? Please don’t take both of my children away.

Our story doesn’t begin in any special way; after all, many couples struggle to have a child. We dreamed, we prayed, and we yearned… for eight years.

Overjoyed doesn’t even touch the way I felt when the doctors told me I would finally have a child of my own to hold, to love. My amazing Abigail came into this world in December of 2010, and after a full 8 years of trying and 34 weeks of pregnancy, I couldn’t believe she was actually here.

To our delight, Abigail hit every required milestone for the first year.

Other than a little colic and some long nights, she was perfect! So Perfect! We had no worries, just tried to enjoy every second of this sweet gift from God! Camping, hiking, running in the front yard — days of nothing but giggles and smiles as she grew.

I dreamed! I prayed over her that she would have a kind heart. I loved dreaming of us doing our first 5K together. I imagined her at a football game with her daddy. For three years, everything was pure joy, cherishing every moment with this little bundle of joy we had so desperately longed for.

Life seemed so wonderful that we debated ever having another child. Why would we need to, when there was so much completeness with wonderful little Abigail?

But in the end we decided that Abigail needed a sibling; someone to share with, to grow up creating sweet memories with. The two of them would have each other long after Mike and I were gone. Abigail, as with everything in her life, was so excited, so full of love. That’s her — pure love!

Even as I write this, I cry. Why be so sad when my story is like so many others?

At least the beginning…

In hindsight, I can pinpoint when it all began. As a mom, I wonder how I missed it at first: she was a little behind her peers, but it was nothing to worry about, she was a preemie.

Things didn’t truly begin to unravel until we went in for a routine hearing test in June, 2014. I’ll never forget the look on the audiologist’s face as she told me Abigail had failed. I could see it happening, but they had to be wrong. I was sure she could hear. Still, I wasn’t going to overreact about hearing aids — she could still live a perfectly normal life. That’s any mother’s hope, right? That their child have the chance to live a normal life.

But that was the beginning of a nightmarish journey that has changed my life forever.

Abigail soon started to have anxieties. She would scream in the night, and became fearful of anyone she didn’t know. Sometimes she’d even be afraid of people she had met before.

I had to help her, had to figure out why she was so scared. She always seemed better once I pulled her into my bed, comforting her at night when she cried out. Surely she would grow out of these anxieties. It was only a phase.

Only a phase…

In September of 2014, we began seeing doctors to figure out why Abigail had hearing loss. She had passed her newborn screening, so what happened? Overwhelmed by doctor visit after doctor visit, Abigail and I were both worn out — but what mom wouldn’t work with the best doctors to help their love, their child?

Soon, the weariness of the appointments gave way to fear — I was beginning to watch Abigail lose things.

As the doctors and therapists asked her to demonstrate things, she began to forget. Things she knew! I knew she knew them! Colors, letters, numbers. I had worked with her. I had taught her. What was going on? What was happening to my precious child? Frantically, I promised the doctors she was normal, up to date — up till now…

Still, they couldn’t figure out what was wrong. There was just one more routine visit left: The Genetic Doctor.

I almost didn’t go…

It was just going to be another doctor to rule things out. My husband was on an important trip, but it was no big deal since Mimi could come help me keep Abigail under control.

Looking back, the thought that we had even gotten that far breaks my heart. Out of control. That was the newest description of Abigail at times.

Every doctor visit had been frustrating, sometimes terrifying… this one was different. This was the doctor visit that would drive me to the depths of despair.

I had seen that look in doctors’ eyes before — I couldn’t forget it.

The look on their face when they’re holding on to information they almost can’t bear to share with you.

Sanfilippo Syndrome

Could this be a joke?

Regression to death.

Pain and suffering, followed by death.

Those weren’t the dreams I had for my Abigail. My dreams had been filled with mission trips, friends, a Godly husband, and beautiful grandchildren. All crushed, all gone.

My precious gift is dying, and there is no treatment, no cure.

At that moment, I thought I would die. I thought I would collapse and suffocate. It didn’t seem real; it didn’t seem fair!

But I didn’t have the luxury of giving up. I had to make it, I had another sweet girl! Sadie Marie, just 10 months old. What did this mean for her? Genetic? Could she be torn away from me too? We were already living one nightmare, was another in the making? Could I lose both of my precious girls?

Abigail has Sanfilippo. As I write this, Sadie has just been tested and we await the results.

I cry. I cry moment by moment. I pray without ceasing that it’s all a dream, a nightmare. Any moment I’ll wake up in a cold sweat, run to check on my girls, and find them both sound asleep — happy, healthy, whole, untouched by a disease too rare for pharmaceutical companies to care about.

But this is no dream… I can’t wake up. And so I cry for Abigail and hold my breath for Sadie, waiting for the phone to ring. Does Sadie Marie have Sanfilippo? Will I have to watch her suffer and die too?

It’s not almost too much to take, it is too much to take. But I must fight! Everyone must fight! Fight for a cure for Sanfilippo. They are so close to a cure! Close enough to save Abigail? Close enough to give hope for Sadie if we hear the unthinkable? Maybe… it’s the hope we hang onto.

You can help us. Donate to Cure Sanfilippo Foundation, and help ensure no more parents find themselves by the phone, waiting for a death sentence… or a clean bill of health.

Please fight for my precious Abigail. And pray, pray for my sweet Sadie Marie.

Epilogue

Finally, I exhale. Two days after writing the article above, the call comes clearing Sadie and reminding me that miracles do happen. Now my worries shift their full weight back onto Abigail, and the cure that could save her.

This thin hope keeps me going, keeps me fighting, because with enough funding and media attention the cure will become a reality, and save my sweet Abigail, too.

The past 6 months have been torture; the past week, excruciating. For seven heart-wrenching days this disease threatened to destroy our family entirely. But this reprieve is only temporary. Celebrating Sadie’s health will just have to wait.

Now we fight. Now we pray that funding comes in time. Donate now at www.curesff.org