Believe In Gianna

Before June 15, 2021, I had never heard of Sanfilippo Syndrome. But on June 15th, 2021, our lives were forever changed with a phone call from our genetic counselor at 4:30 pm.

I had one foot out the door to head to our neighborhood pool with my children. I promised I would take them for a late afternoon swim. Gianna, Luke, Emme Cate and Anna were dressed in their swimsuits, sitting on the golf cart, waiting for me to take them to the pool, when I got the worst call of my life. 

“Mrs. Wacker, I’m calling to tell you we found something on Gianna’s genetic testing results.”

I remember telling her that this was fantastic news, as we have been searching for answers for over 6 years. 

“What did you find?! What is it?!” I remember feeling a tremendous sigh of relief. Little did I know the next thing she was going to tell me would be the MOST devastating information that Jason and I would have to endure.

She told me that genetic testing results showed a degree of significant variance in the SGSH gene. I was told that I needed to take G to Children’s Hospital the next day to get a couple more tests done. She needed a blood test and a urine analysis to confirm this diagnosis. 

“Well what is it? What do we do to FIX this? How do we TREAT this?”, were my next words.

She told me it was called Mucopolysaccharidosis type III (MPS III), otherwise known as SanFilippo Syndrome. SanFilippo is an extremely rare lysosomal storage disorder disease, it which her little body is lacking an enzyme to break down Heparin Sulfate. I was told the only way Gianna could inherit this disease is if both Mom and Dad are carriers. And little did we know, both Jay and I are carriers of this horrific disease. Because we are carriers, Gianna and our other three children each had a 25% chance of being born with Sanfilippo Syndrome, 50% chance of being a carrier, and 25% chance of escaping this crippling disease all together. 

And then she told me there was NO CURE.

And then she told me to not Google it. And that in two weeks we will have a more definitive diagnosis after the blood and urine results come in. She didn’t tell me much more. I still didn't know or comprehend the severity of this information that I was receiving about our baby girl. 

I heard Jay walk in the door from work. I wanted to talk to him immediately. I remember telling the genetic counselor, "thank you so much" and that I’d take Gianna to Children’s Hospital the next day and that I was going to look forward to talking to her again, soon. 

Ten to fifteen minutes had passed on the phone. The kids were still outside sitting on the golf cart anxiously waiting to go to the pool. But wait, first, I had to tell Jay the news.

I walked into our bedroom and closed the door. “They found something on G’s genetic results! It’s called mucopoly something and we have to get some tests run tomorrow to confirm it. She told me not to google it though. Weird. Let me look it up really quick.”

And then I Googled it.

And at that moment, I went numb. Tears started to stream down my face, and I felt myself not being able to breathe. Those fifteen minutes of researching this disease off the internet killed me. My heart was being ripped out of my body and crushed into a million little pieces.

What I soon learned is that Sanfilippo Syndrome is a terminal, neurodegenerative, extremely rare disease. Imagine Alzheimer's, but in children. It causes children to lose all the skills they have gained. Gianna and other children diagnosed with Sanfilippo Syndrome, will lose the ability to walk, speak, hear and see. She will suffer seizures and movement disorders, endure pain and suffering for years till Sanfilippo robs her of her life. Most children die before their second decade of life. ONE in approx. 70,000 children are born with Sanfilippo Syndrome. There is no FDA-approved treatment or cure for Sanfilippo Syndrome. Nothing. There are clinical trials, but we need more funding and research. 

I couldn’t believe what I was reading. This just can’t be right. Not our Gianna. Not our beautiful girl who loves to sing, swim, be silly and laugh. I kept thinking and telling myself that there is no way our daughter has this disease and is going to die. I kept telling Jay the results are wrong. They have to be. But the odds that the genetic testing results were wrong were slim. To say we were devastated, shocked, and broken, would be the biggest understatement ever said. 

We cried. We broke down. We were already grieving the loss of our child who is here with us. It is truly the worst feeling in the entire world. I can’t explain it. 

But, at that moment, I had to pull it together. I had to wipe away the tears, and put on a happy face, and take my children to the pool. It had easily been a good 30 minutes and the patience wore off. They were not happy. Like I said, we were just walking out the door to go to the pool, when I got the phone call. So we went to the pool and Gianna and her sisters swam for two hours. Behind my black sunglasses with continuous tears streaming down my face, I watched her jump in and out of the pool, swim, and be happy. She was full of JOY. She was thriving! Smiling! She was loving life and being G! 

The next two weeks waiting for the results felt like months. I was hanging onto hope that the results would be wrong and Gianna wouldn’t have Sanfilippo Syndrome.

On June 30th, 2021, we got the call and the official diagnosis. Our beautiful Gianna was diagnosed with MPS IIIA, otherwise known as Sanfilippo Syndrome. We were devastated. We still are.

I remember asking WHY? Why Gianna. Why our baby girl? I still do. Every. Single. Day. Every emotion has been running through my body since that dreadful D-Day on June 15. Anger, sadness, fear, guilt, loneliness, confusion, and so much more. The children would ask me, “Mom, why are you crying? Why are you sad?!”

And did I mention, Gianna loves to sing? I remember one Sunday morning I heard her in the shower singing like she normally does. I immediately ran to get my phone to record her beautiful little voice, because I knew one day she wouldn’t be able to sing anymore. And I wanted to make sure I was savoring all the memories.

The next few weeks were followed up by numerous tests and doctor visits to get a baseline on Gianna. We did cat scans on her organs, we looked at her eyes and ears to see how well she could hear and see. We looked at her heart to see if there were any abnormalities. Gianna had to have an entire body skeletal scan to look at all her bones and development in her 70 lb. little body. Gianna was poked and prodded with more blood work and tests and the worst part was when she kept asking me, “Why do I have to go to the doctor, again?”

BUT, I knew Jay and I had to be STRONG for G and our family. For our other three children would sense something was wrong.

Gianna just celebrated her Golden 13th Birthday on November 13, 2021. She is strong!! She is fierce!! She is a beautiful child of God. She’s our G and she gave us the greatest gift, 13 years ago when she made us parents. God truly has a special plan for our girl. She shines the most beautiful LIGHT for everyone to see. Her beautiful voice can move mountains. She’s perfect. She’s amazing. She is Golden.

We Believe in G.

In August, we received amazing news that her eyes and ears and heart were perfect. No signs of degeneration, yet. And Gianna’s neuropsychologist, said the same thing regarding her cognitive skills and her adaptive behavior. God is so great.

We Believe in G.

Gianna is now 13 years old and in 6th grade at LaSalle Springs Middle School. She goes to school and rides the bus with her brother each day. We don’t know what the future holds for our girl. We don’t know what tomorrow will bring. She struggles with making friends and communicating her feelings. But, one thing for sure, she loves hard and her smile is contagious. She will light up any room.

And we are going to FIGHT like hell to save our baby girl and all these children who are living with Sanfilippo Syndrome. They don’t deserve this. No one does.

Most children with Sanfilippo Syndrome are diagnosed earlier in life. We searched and searched for answers for the last six + years. Gianna was thriving when she was born. She crawled by 5 months and was waking by 9 months old. She was doing great! No signs of any developmental delay. And then she turned six. That’s when we started noticing her struggle in school. She started to struggle with hyperactivity, ADHD, cognitive delays, impulse control and so much more. We saw multiple doctors looking for answers. It’s like she hit a wall at 6 years old and hasn’t gotten past that age. 

We are hopeful with additional funding and research, more clinical trials will become available and Gianna will qualify for one. With the advancement of medicine, we pray that Gianna and all the other children suffering from Sanfilippo Syndrome will receive the help they need to thrive and fight this terrible, debilitating disease.

We Believe in G. We need you to Believe in G too. 

To Believe in G is to believe in grace.

To Believe in G is to believe in community.

To Believe in G is to believe in the power of prayer.

To Believe in G is to believe in childhood.

To Believe in G is to believe in hope.

To Believe in G is to believe in light.

To Believe in G is to believe in God.

Gianna has been created out of love for a very unique, special purpose. Only God knows the full extent of all her gifts and talents as well as all the lives she will touch in a very special way. Both Jay and I Believe in G . We need to let Gianna and the rest of these innocent children affected by Sanfilippo Syndrome lead the way.

We are so incredibly thankful and are beyond blessed for all of the love and support we have received from our family, our friends, and our community. We truly have the best village surrounding us. Please keep Gianna, our family, and the rest of the Sanfilippo community in your prayers. 

-Written by Theresa Wacker, Gianna's Mom

Follow Gianna on her journey via Facebook HERE

For more information you can visit https://curesanfilippofoundation.org/



To continue supporting Gianna and her family, check out their golf tournament: https://one.bidpal.net/Gianna/welcome