On January 3rd, 2010 I gave birth to a beautiful healthy baby girl weighing 7 pounds. We took Kaia home a few days later and for the first 3 months of her life she was a normal baby – gaining weight, feeding well, kicking her legs, laughing and cooing. At about three and one half months, she wasn’t as active anymore and became fussy during feedings.
A month later, on May 18th, we took Kaia to British Columbia Children’s Hospital. We knew something was wrong. Her development had literally come to a halt. Her arms and legs had no muscle tone, she hadn’t gained any weight in almost a month, and she appeared lethargic.
The doctor in the ER listened to her heart and heard a noticeable murmur. After an X-ray, EKG and Echo, we sat in a small room in the ER with Kaia waiting for the results. The cardiologist and four other doctors came in and we were given the worst news of our lives. Our precious daughter had a rare incurable disease called Pompe Syndrome. We were told that there is an enzyme replacement treatment available, however her life expectancy would only be 18-24 months.
I remember trembling with fear. The tears didn’t come until a few hours later when I allowed myself to believe the horrifying news. We stayed in the hospital for the next four days. Kaia was given numerous blood tests in order to confirm the diagnosis. She was monitored closely, until the doctors felt that she was stable enough to come home. We had to learn how to give her feedings through an NG (Nasogastric) tube and administer her heart medication through the tube (she was on lacix and digoxin for her enlarged heart).
We took her home on May 22nd, the day before her four-year old sister’s birthday. We still had to wait another week for the test results. That week was a daze. We hoped that by a miracle, they had made a mistake and that she had a curable disease or just maybe she would recover completely…anything. Please God, we could deal with anything but this.
On Friday, May 28th we went back to the children’s hospital to meet with the Metabolics team and were told that the tests confirmed that Kaia had Pompe disease. We weren’t surprised but a small part of us were terribly disappointed. They wanted her to start the Myozyme treatment within a week while she still had the strength to endure it. We were all so optimistic. Kaia was baptised two days later. We hoped it would mark a new beginning for our family.
Unfortunately it was not meant to be. Over the next few days her health deteriorated. She had difficulty breathing and had no appetite. We took her back to the hospital on Wednesday, June 2nd. The admitting nurse took one look at her and rushed us into a room in the ER. All I remember is nurses and doctors rushing to Kaia’s bedside and the rest is a blur. We were taken to a private waiting room. The cardiologist, ICU doctor and metabolics doctor entered the room and I knew from the looks on their faces that it was bad news. The cardiologist said that the disease was progressing rapidly in Kaia. She was too weak for the enzyme treatment and would probably only live for a few days. Again, I trembled uncontrollably. How could this be? I had barely accepted the fact that she had this awful disease and I was desperately hoping the treatment would prolong her life indefinitely and now this. I only had a few days left with my baby girl? We had some heavy decisions to make.
Kaia was taken to the ICU. She had nasal prongs to help with her breathing. She looked so fragile. How could I let her go? I kept telling her that she had to fight…just keep fighting. We hoped that she would gain strength over the next few days so she could endure the treatment. I slept on a cot next to Kaia’s bed that night. It was the first night that Kaia and I had ever slept apart. That night she developed a fever and from there, she progressively got worse.
The next day we met with the doctors. We were adamant about Kaia starting the treatment. We felt that we had to give her a chance at life. After much discussion, we realized that she would probably not live through the treatment and miraculously if she did, she wouldn’t be able to breathe on her own. I knew then that I didn’t bring her into this world so she could be hooked up to a ventilator. Her quality of life was the most important thing to us. We made the decision to leave it up to Kaia. If she regained enough strength, we would start the treatment. If not, then life would be on her terms. The ICU doctor said that Kaia would pass away within the day.
They moved us to a small room off of the ICU. They started giving her morphine for the pain and increasing the dosage every few hours. My mom, sister-in-law and I took shifts rocking her through the night, while my dad and husband slept in a private waiting room outside of the ICU. My shift began at 5:30 am. Kaia was struggling to breathe. Nurse Sara told me that the end was near. I would like to think that Kaia was waiting to say goodbye to me. At 7:45 am, my brave little Kaia passed away in my arms with her daddy, grandmas, grandpa and aunt by her side.
Our grief is overwhelming at times but on that long last night shared with our precious daughter, we made her a promise that I will never break. Her circle of life may have been small but we promised that we will celebrate her….always. And we will forever cherish her sweet, brief, meaningful life.
January 2022 I am McKenna Wellner and I was diagnosed with Pompe disease at 19 years old and I am now 20. I first noticed symptoms the beginning of 2019 and was diagnosed October 1, 2020. Towards the end of my senior year of high school, I noticed walking up the...
December 2021 Hi everyone, my name is Dwayne; I am 53 years old. I was diagnosed with Late Onset Pompe disease (LOPD) in November 2018 when I was 50 years old. I live in Southern California with my wife and mother-in-law. I am a father to four sons. I also have a...
January 2022 My name is Geneviève, and I am 42 years old. I was diagnosed with Pompe disease at the age of 40. Here is my story. In my early thirties, I was skiing a lot with my 9-year-old daughter at that time. It was during this activity that my daughter pointed out...
January 2022 I was diagnosed with LGMD when I was 12 years old. I had difficulty all my life with running, going upstairs, and doing sports, but no matter how hard things were I always pushed myself. I started working at 12 years old, started babysitting. At 16 years...
January 2022 This is Margot. She is almost two years old from Kentucky. She loves to swing, paint, and keep up with her 4-year-old brother. When she was born, there were no concerns. We went home and adjusted to our new life with baby number two. 8 days later, we...
November 2021 My name is Haley Hayes. I am from Virginia. I am 16 years old and was diagnosed with infantile-onset Pompe Disease at 6 months old. I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In the...
August 2021 My name is Caitlin Naldoza. I am 17 years old and was diagnosed with late onset Pompe Disease at 5 years old. I will be sharing my experience being a teenager living with Pompe and how it has affected me over the years. In middle school, that was when I...
A year ago today [April 29, 2004] our son, John, passed away from Pompe Disease. He was four years old. Most of you will not recognize his name, but you all should know who he is. John was patient 101 – the first person to receive the CHO Enzyme Replacement Therapy...
A Mothers Anguish April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter passed away. Her name was Patty. Everyone, especially the medical profession, should be aware of the potential for this to...
This is the story of me from before I was diagnosed with Pompe’s disease. I hope this helps to enlighten the medical community as well as other Pompe patients. Back in 1965 my Mom was told that I would be born on December 2nd. This date came and went and the...
WE NEED YOUR HELP!
To further research into Pompe Disease, as well as support Pompe patients around the world, private funds must be raised. If you are interested in learning more about Pompe Disease and would like to make a contribution in support of necessary research, please contact us at:
AMDA (Acid Maltase Deficiency Association)
P.O. Box 700248
San Antonio, Texas 78270-0248