This time of year is always a big time of reflection for me, especially as this year is 5 years since Mia was diagnosed. After Mia was diagnosed with Pompe Disease and we were told of the trial, we felt so hopeful that Mia may be OK, at least I thought so initially. As we tried to absorb so much information, many questions went through my head. Perhaps this medicine MAY help her, but at what cost to her QUALITY of life? How painful are the procedures? Are there side effects? Will we be prolonging the inevitable? Will she be alive, but dependant on artificial ventillation to breathe and have limited movement? These questions went on and on.
Tomorrow will be five years since we first spoke to the most AMAZING Nurse Practitioner at Duke University Medical Center. Prior to this call, I had my family over the house as they helped me come up with a list of questions to discuss with the NP. It was such an overwhelming time, I needed as much support from everyone around me. I needed as many ears listening to what the NP discussed with us as Sean and I could only absorb so much. We essentially had two options. The first would be to be aggressive and treat her by enrolling her in the trial. The second would be to keep Mia comfortable, get Hospice involved and enjoy the little time we had left with her. I made it very clear to the family that whatever Sean and I decided to do, I hoped they would support our decision.
Our conference call began at 1130am. We asked all our questions and felt comfortable making our decision. It was decided that Mia was a good candidate for this trial, the side effects were minimal, and treatment could be stopped at any time if we felt that she was in pain or that her quality of life was not what we felt she deserved. As scarey as it was, we decided to pack our bags, leave our jobs, and move to NC and give Mia her second chance at life. Thank you to our friends and family, without the emotional and financial support, I do not think this would have been possible.
We were anticipating flying out to NC on the 4th of July, giving us very little time to make so many arrangements. First, Mia's Baptism was scheduled for July 10th, but we would be in NC by then. I called the church, it was the first time I cried that day. The poor receptionist, I told her I needed to cancel Mia's Baptism and reschedule ASAP as she was very sick. She spoke to the priest and told me he would be at the house in 20 minutes. It was not part of our original plan (I guess like everything else since Mia was born), but Mia was baptised on our kitchen table. It worked out perfectly as the family was already at our house. We all looked terrible, exhaused. Mia, on the other hand, looked beautiful in her white gown. It amazed me that a child who looked so healthy was so sick.
Monday, June 28, 2010
Wednesday, June 23, 2010
The SECOND worst day of my life
May 16, 2005 being the WORST day of my life, was a day that every parent fears. I knew something was not right with my daughter as she had feeding difficulties and was not gaining weight. Upon her pediatrician detecting a heart murmur, she was referred to a cardiologist. An EKG and echocardiogram were done. After much waiting, and waiting, and waiting, the cardiologist returned with about 6 or 7 other staff including other doctors, nurses and social workers. I knew I was about to hear bad news. Mia's heart was severely enlarged and in failure. The doctor did not know why, but she prepared me for the worst as the prognosis of a heart in her condition is grim. I cannot even begin to explain how I felt, so I will not even attempt. Nothing can prepare you for such news. Mia was admitted into the hospital for a full metabloic workup to find out what was causing her heart issues. I was also told that 80% of the time when a child has cardomyopathy, they do not find the primary cause of the heart issues.
Almost 6 weeks later, we followed up with the cardiologist. When I arrived, the doctor told me that she had a diagnosis for Mia. She asked me to call my husband and have him come so she can discuss everything with both of us. I called Sean at work and told him to meet me at the office. This was the scariest moment of my life (well, up to this point, more came later).
Tomorrow, June 24th, will be five years ago that I first heard the words, "Your daughter has Pompe Disease." The only information that I knew of this disease was that it was fatal usually in the first year of life. I was told there was an experimental medicine showing some promise. Sounded easy enough, not quite.
This was an IV infusion that Mia would have to receive every other week. We needed to go to Duke University Medical Center to enroll her in the trial. It would take several months for the trial to be set up so that Mia could receive it locally. So much information was thrown at us, it was hard to comprehend it all.
We took Mia home and tried to absorb so much new information. We realized that life was about to forever change, no idea what to expect. We were thrown some hope and we hung on for dear life.
Almost 6 weeks later, we followed up with the cardiologist. When I arrived, the doctor told me that she had a diagnosis for Mia. She asked me to call my husband and have him come so she can discuss everything with both of us. I called Sean at work and told him to meet me at the office. This was the scariest moment of my life (well, up to this point, more came later).
Tomorrow, June 24th, will be five years ago that I first heard the words, "Your daughter has Pompe Disease." The only information that I knew of this disease was that it was fatal usually in the first year of life. I was told there was an experimental medicine showing some promise. Sounded easy enough, not quite.
This was an IV infusion that Mia would have to receive every other week. We needed to go to Duke University Medical Center to enroll her in the trial. It would take several months for the trial to be set up so that Mia could receive it locally. So much information was thrown at us, it was hard to comprehend it all.
We took Mia home and tried to absorb so much new information. We realized that life was about to forever change, no idea what to expect. We were thrown some hope and we hung on for dear life.
Friday, June 4, 2010
Fundraising Event for Mia
On Saturday, July 10, friends and family of Mia Hanley, a 5-year-old girl living with Pompe Disease, along with the management at Texas Roadhouse in Cranston, will host a day filled with family fun and hot cars.
Diagnosed with the rare form of Muscular Dystrophy at just six months, Mia is lucky to be alive today thanks to an extensive treatment she receives twice a month. The proceeds from this event will help with Mia's expenses related to her illness as well as fund research at Duke University dedicated to find a cure for Pompe.
This event is also celebrating Mia's 1/2 Birthday which is July 7th. The day Mia turned 6 months old, she received her first infusion. This was her second chance at life marking it a very significant day in her life. As she turns 5 1/2, we will celebrate five years since her first infusion.
Please join us between 10 a.m. and 2 p.m. at the Texas Roadhouse in Cranston as we raise money for this beautiful little girl. Along with the dozens of show cars on hand, the event will also include face painting, a bounce house, an appearance by Ariel the Little Mermaid and crafts for the kids; Cranston Police vehicles, including the Mobile Command Unit; an information tent dedicated to educating the public about Pompe disease raffle prizes, a bake sale and much more!
Vendor tables will also be on set up and will include representatives from Lia Sophia Jewelry, the Pampered Chef and Stitch Me This. If you are interested in renting vendor space, contact Melissa Loiselle.
Please save the date for this event, tell your friends and help us spread the word about Mia's Miracle!
Diagnosed with the rare form of Muscular Dystrophy at just six months, Mia is lucky to be alive today thanks to an extensive treatment she receives twice a month. The proceeds from this event will help with Mia's expenses related to her illness as well as fund research at Duke University dedicated to find a cure for Pompe.
This event is also celebrating Mia's 1/2 Birthday which is July 7th. The day Mia turned 6 months old, she received her first infusion. This was her second chance at life marking it a very significant day in her life. As she turns 5 1/2, we will celebrate five years since her first infusion.
Please join us between 10 a.m. and 2 p.m. at the Texas Roadhouse in Cranston as we raise money for this beautiful little girl. Along with the dozens of show cars on hand, the event will also include face painting, a bounce house, an appearance by Ariel the Little Mermaid and crafts for the kids; Cranston Police vehicles, including the Mobile Command Unit; an information tent dedicated to educating the public about Pompe disease raffle prizes, a bake sale and much more!
Vendor tables will also be on set up and will include representatives from Lia Sophia Jewelry, the Pampered Chef and Stitch Me This. If you are interested in renting vendor space, contact Melissa Loiselle.
Please save the date for this event, tell your friends and help us spread the word about Mia's Miracle!
Thursday, June 3, 2010
Let's start at the beginning
When she was just 6 weeks old, Mia Hanley's parents, high school sweethearts Dawn and Sean, knew there was something wrong with their only child when she began having difficulty feeding. At 4.5 months, her pediatrician detected a heart murmur and sent Mia to a cardiologist. After several tests were performed, the heart doctor learned Mia's heart was enlarged, bigger than a grown adult's, and the child was in cardiac failure.
The prognosis was grim. Doctors told Dawn and Sean to expect the worst as testing began to find out what was causing Mia's heart to fail.
After several weeks, they had an answer: POMPE DISEASE. A rare form of Muscular Dystrophy in which a missing gene causes the body to fail to produce an important enzyme that breaks down glyocgen. A natural substance created by sugar and used by the body for energy, glycogen, when not used, is reabsorbed by the body. When it is not, due to the missing enzyme, the glycogen builds up in the body, negatively affecting all muscles, primarily the skeletal muscles and heart.
Nine days after this diagnosis, on the day she turned 6 months old, Mia was at the Duke University Medical Center receiving her first infusion known as enzyme relacement therapy. This is where a synthetic copy of the missing enzyme is infused via IV, offering the baby girl a chance at life.
To Dawn and Sean's delight, Mia began to show signs that the treatment was working! Mia lived past her first birthday, something the doctors warned would not happen. Soon she turned 2, then 3 and 4! At 5, Mia is preparing to enter Kindergarten in the fall! Though she walks and talks with difficulty, she is cognitively developing at an age-appropriate pace.
But this treatment, which must be repeated once every other week and takes up most of Mia's day, is NOT a cure. A cure would be replacing the missing GENE, and, according to Mia's mom, doctors are close to being able to do just that!
The friends and family of Mia Hanley want to speed this process up. By raising money for research, it is our hope that we can learn more about the long term affects of Pompe Disease, the long term affects of treatment, and eventually a CURE!
Please support Mia as she continues to fight this disease, and the researchers at Duke as they work toward finding a cure!
The prognosis was grim. Doctors told Dawn and Sean to expect the worst as testing began to find out what was causing Mia's heart to fail.
After several weeks, they had an answer: POMPE DISEASE. A rare form of Muscular Dystrophy in which a missing gene causes the body to fail to produce an important enzyme that breaks down glyocgen. A natural substance created by sugar and used by the body for energy, glycogen, when not used, is reabsorbed by the body. When it is not, due to the missing enzyme, the glycogen builds up in the body, negatively affecting all muscles, primarily the skeletal muscles and heart.
Nine days after this diagnosis, on the day she turned 6 months old, Mia was at the Duke University Medical Center receiving her first infusion known as enzyme relacement therapy. This is where a synthetic copy of the missing enzyme is infused via IV, offering the baby girl a chance at life.
To Dawn and Sean's delight, Mia began to show signs that the treatment was working! Mia lived past her first birthday, something the doctors warned would not happen. Soon she turned 2, then 3 and 4! At 5, Mia is preparing to enter Kindergarten in the fall! Though she walks and talks with difficulty, she is cognitively developing at an age-appropriate pace.
But this treatment, which must be repeated once every other week and takes up most of Mia's day, is NOT a cure. A cure would be replacing the missing GENE, and, according to Mia's mom, doctors are close to being able to do just that!
The friends and family of Mia Hanley want to speed this process up. By raising money for research, it is our hope that we can learn more about the long term affects of Pompe Disease, the long term affects of treatment, and eventually a CURE!
Please support Mia as she continues to fight this disease, and the researchers at Duke as they work toward finding a cure!
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