Why My Brave Little Girl With The Rare Disease Breaks My Heart Into A Million Pieces

Amanda Regalado's daughter, Bailey, was diagnosed with a serious, rare condition, Gaucher's disease, when she was 10 months old. She's fought her way to 10 years old and her mother could not be more proud. But there have been extreme lows along the way.

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My brave little Bailey Grace was ten months old when she was diagnosed with a very rare genetic disease called Gaucher’s. There are three types. Bailey has type 3.

A person with Gaucher’s disease lacks an enzyme – or protein – known as glucocerebrosidase.

Glucocerebrosidase breaks down a type of fat, known as glucosylceramide, into sugar and simple fats to be used for energy.

If the fat is not broken down, it will start to collect inside the cells of the brain, bone marrow, lungs, spleen, and liver. These organs will not be able to function correctly.
The most common symptom is an enlarged spleen, called splenomegaly. This can cause the abdomen to become swollen, full, or painful.

It can also cause platelet and red blood cell dysfunction because the spleen is a processing center for these cells. Low platelets and red blood cells in the body cause fatigue, easy bruising, and bleeding. Eventually, Gaucher’s disease can cause brain damage.

In her ten short years, she has endured more than most adults do in their entire lifetime

Bailey has had a bone marrow aspiration, her tonsils and adenoids removed, two strabismus repair surgeries, two port placements, and plates and screws put into both of her hips.

In her ten short years, she has endured more than most adults do in their entire lifetime.

Bailey is easily the bravest person I know. Some of the days of this journey have been incredibly dark, and I wish I could shoulder some of this heavy burden for her. It’s heartbreaking for a child to have to live a life dominated by hospital appointments. But she deals with it with such grace.

Recently, there have been many changes in Bailey’s health. We have been through some amazing things, and we have been given devastating news. One thing that has remained the same is Bailey’s drive. Her love, happiness, and passion for life.

This is not good news. We are scared

I am still left in awe watching her face the daily struggles that come with this disease and then ending each day with a smile on her face. She is constantly proving to me that just because there are sad moments or even bad days, that this is not a bad life.

Earlier this year, Bailey had a hearing test that was not great. She was given hearing aids, and she is being monitored closely. Her most recent hearing test showed a “significant drop” on the graph when compared to her last one. This is not good news. We are scared.

If this were to continue, at this rate, it wouldn’t be long before Bailey would lose all of her hearing. That’s terrifying. We are praying hard against this. Her hearing aids were reprogrammed so they can accommodate the extra loss.

She will have testing done again soon because they want to closely monitor her to make sure that this trend does not continue and that we are doing absolutely everything possible that we can for her.

We were told that Bailey’s lungs are damaged

Back in March, we traveled halfway across the country from our home in Texas to see someone who specializes in Gaucher’s. We immediately went into knowledge overload territory.

This is good. We need to know everything.

This appointment also consisted of many scans. We were told that Bailey’s lungs are damaged. We were not surprised to hear this. When sickness hits her chest, it hits hard. It is, unfortunately, quite common with Gaucher’s disease type 3. We were also told about some lesions that they found on her bones.

This also was not surprising information. She had plates and screws placed in her hips in September of 2017 because of a fracture to the femoral neck. This was not caused by a traumatic injury. There was nothing that happened that could have caused a break like this. That in itself told us that her bones are just not in great shape.

Now for some good news! This past summer, we planned a beach vacation. There were 11 of us going and we were planning on being gone for an entire week. This is where things have always become complicated for us. All vacations have always been planned around treatment. On weeks when we knew she wouldn’t have treatment. That was not a possibility this year since she is receiving infusions every single week.

I thought my heart was going to burst with joy

I decided to explore the option of mixing the medication myself. I have been accessing Bailey’s port for almost two years now but the medicine was still being delivered on the day of her infusion, premixed. This, of course, limited many things for Bailey because this medication isn’t something we can get just anywhere.

I am so happy to say that I was trained to mix the medicine and it has gone so well. It has really given us so much freedom that I don’t think we even realized we were missing.

Bailey had treatment ON THE BEACH! We were living on no one’s time but our own. It was so surreal. I thought my heart was going to burst with joy as I sat there watching Bailey receiving medication through her port, while she played with chalk, listened to her favorite music, and watched the ocean currents. That is how treatment should be done!

We finally feel like we have a team of doctors standing behind Bailey, with us, fighting for her life. It is so worth fighting for, and it gives us so much peace to know that we are fighting with a team of amazing medical professionals.

We are profoundly thankful for them. For their desire to continue to learn about this incredibly rare disease and for their willingness to be there for all of Bailey’s needs, and ours.

Not every doctor will give you their cell phone number to call if needed. I have three of Bailey’s doctors’ cell phone numbers saved in my phone. It truly is incredible.

She continues to inspire us

There have been many changes for our girl over the past year, and some of it has been so difficult. It’s been sad, painful, and at times, too much to handle. The good things though are what pull us through the bad. We are thankful for Bailey. We are grateful for her life. For another birthday, even if it did fall on Treatment Tuesday this year. Especially since it fell on Treatment Tuesday.

She continues to inspire us. She continues to show us that there is so much in life to be thankful for, even on the dark days. She is a warrior. Nothing can hold her down.

We learned a few weeks ago that Bailey has osteonecrosis of the femoral head. Osteonecrosis is a disease caused by reduced blood flow to bones in the joints.

In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. Her bone is dying in this spot. We do not know for sure why. It could be from her surgery a year ago. It could be because she was undermedicated for so many years.

Or, it could just be the progression of the disease. We don’t know. What we do know is that the next six weeks are crucial. Bailey’s activities are being very limited. The only safe thing for her to do is walk. She cannot run. She cannot jump. She cannot even walk long distances. She cannot lift anything more than about 10-15 pounds. She’s 10.

This isn’t like telling an adult this news.

What Bailey hears is: “You cannot run at recess with your friends.”

“You cannot participate in MOST P.E. activities.”

“You cannot jump on the trampoline.”

“You cannot lift your puppy.”

“You cannot hold your baby cousins that you love to have sat in your lap.”
And the list goes on and on. The hope is, that in six weeks the bone will have healed itself. Today, at this moment, that is what we are left with. Six weeks of being on high alert and hoping and praying that we receive good news at the end of it.

My heart is broken into a million pieces every single time she experiences heartache from this disease

We know that not all appointments will come with good news. We know the reality of this disease. We know that she will have to continue to push and fight. This is not news to us.

Now and then though, despite our best efforts, we are blindsided with bad news. She is ten years old, and it will never get easier to receive bad news. It’s our daughter. It’s her life.

My heart is broken into a million pieces every single time she experiences heartache from this disease. We will continue to be positive and pray for her and her body, and we will walk with her through every single bit of it. She will never have to worry about fighting this by herself. She will never have to worry about doing this alone.

We will always stand and fight with her, and we will never stop hoping and praying for a cure to Gaucher’s – and soon!

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