kellyw8863
DIS Veteran
- Joined
- Jun 4, 2009
- Messages
- 647
Okay, I've been hesitant to start one of these, because I haven't been totally convinced that Ali was going to choose WDW as her "one true wish," but now she's stuck on the zoo, and more specifically, seeing the giraffes. So I'm thinking Animal Kingdom should satisfy that, right?!
Now to introduce the members of our family, starting with my youngest, Alison, since she is the reason why I am here.
Alison is four years old and has been diagnosed with mitochondrial disease. Basically what that means is that her body is incapable of producing the energy necessary to sustain life. This occurs at the cellular level, so even though she looks great, what's going on inside her body isn't always so great. Individuals who are symptomatic and diagnosed before the age of five generally have a poor prognosis with an 80% mortality rate by the age of ten. Currently, there is no cure and no real treatment. Our best bet for the time being is a collection of vitamins, antioxidants, and cofactors.
Though she was only diagnosed this past June, she has had problems since birth. She was hospitalized for the first time when she was two months old because she would choke while nursing and turn blue. However, these spells were attributed to reflux, and her GI didn't look in to it much further. By the time she was four months old, she was an exceedingly miserable baby who cried most of the hours of the day and didn't sleep - ever. It was during one of these "episodes" that we finally drove her two hours to Children's Hospital Boston because we simply couldn't do it any more.
A series of abdominal x-rays showed that her large intestine was so distended that it was the size of an adults. Her GI began thinking Hirschsprung's Disease, so she was hospitalized and underwent an inpatient clean-out (think: colon prep for a colonoscopy) and tons of testing. We were so, so fortunate to be patients in one of the top motility clinics in the country but even still, her GI couldn't find a source for her intestinal problems.
Fast forward a couple of months and right around her first birthday, she had her first MRI. The primary reason was to assess some crazy head growth in that at a year old, her head was the circumference of a full grown adult's. However, her spine was scanned as well and it was discovered that she had a tethered spinal cord where the end of her spinal cord was attached to something at the base (it should be free-floating). Because of the insane constipation issues (three inpatient clean-outs in a six month period) and the fact that she was also showing some developmental delays (not walking and barely crawling, or even rolling), she underwent spinal cord detethering three weeks later, which was to be her first major surgery. Following the surgery, her constipation improved and she started walking. We thought that perhaps her "issues" were beginning to resolve. Little did we know this was just the beginning.
Alison grew into a very "sick" little girl. She always had something - sinus infections, pneumonias, and ear infections. She was still choking when she drank liquids, so when she was two years old, she was referred to an otolaryngologist to investigate why she was having so many problems swallowing. She had a "triple scope" (endoscopy, bronchoscopy, and laryngoscopy) that revealed something called a laryngeal cleft, which basically is a hole in the larynx that allows fluids to pass from the esophagus to the trachea and into the lungs. That explained why she was so sickly and why she got so many pneumonias. The doctors also discovered that she had quite a bit of lung damage from aspirating so much.
She was scheduled for surgery in January of 2008, which would be most challenging since it is a very delicate procedure and required a period of intubation post-surgery. I will never forget watching her as she was wheeled out of the OR "bagged," even though it was only because of the endotracheal tube. She spent the next 24 hours in the ICU sedated and intubated. Her surgeon did not give her a good prognosis saying that the size of the cleft could not account for the degree of aspiration, and that we should start considering neuromuscular diseases as the cause.
Three months later is the first that mitochondrial disease was mentioned as a possibility. Her GI felt that it was logical considering the issues that she had with her GI tract (swallowing and colon), as well as all over low tone that was not resolving with age nor physical therapy. Her neurologist felt otherwise, and after the two of them battled it out, Ali was scheduled for a muscle biopsy the following fall. We received the results approximately three months later that showed serious defects in complex I and IV enzyme activity. Blood work and genetic testing supported this result, and Ali was formally diagnosed in June of 2009.
To date, Ali has a number of medical diagnoses including macrocephaly, astigmatism, dysphagia with chronic aspiration, reflux, laryngeal cleft (repaired), asthma, an atrial septal defect, tachycardia, bilateral hip dysplasia, tethered spinal cord (repaired), global hypotonia, hypermobility, multiple drug allergy syndrome, and autonomic dysfunction. I think that's it. For specialists, she is regularly followed by complex care services, neurosurgery, neurology, cardiology, opthamology, orthopedic surgery, pulmonary, gastroenterology, allergy/immunology, and metabolics. She wears bilateral AFOs, has problems with fatigue and chronic pain, and has a g-tube. According to her GI, we are definitely looking at some type of ostomy in her future, but we're trying to put it off for as long as possible. Over the course of the day, she takes nine different medications and receives 1500mls of fluid through her g-tube.
Despite everything that she has been through, she has faced it all with grace and a sense of determination that amazes me. She is funny, spirited, and oh so smart. All in all, I would say that she totally deserves to receive her "one true wish."
Thanks for reading - I had no idea that this would be so long! I'll have to come back to post about the rest of the family and start with the planning questions - off to do some shoe shopping!
Kelly
Now to introduce the members of our family, starting with my youngest, Alison, since she is the reason why I am here.
Alison is four years old and has been diagnosed with mitochondrial disease. Basically what that means is that her body is incapable of producing the energy necessary to sustain life. This occurs at the cellular level, so even though she looks great, what's going on inside her body isn't always so great. Individuals who are symptomatic and diagnosed before the age of five generally have a poor prognosis with an 80% mortality rate by the age of ten. Currently, there is no cure and no real treatment. Our best bet for the time being is a collection of vitamins, antioxidants, and cofactors.
Though she was only diagnosed this past June, she has had problems since birth. She was hospitalized for the first time when she was two months old because she would choke while nursing and turn blue. However, these spells were attributed to reflux, and her GI didn't look in to it much further. By the time she was four months old, she was an exceedingly miserable baby who cried most of the hours of the day and didn't sleep - ever. It was during one of these "episodes" that we finally drove her two hours to Children's Hospital Boston because we simply couldn't do it any more.
A series of abdominal x-rays showed that her large intestine was so distended that it was the size of an adults. Her GI began thinking Hirschsprung's Disease, so she was hospitalized and underwent an inpatient clean-out (think: colon prep for a colonoscopy) and tons of testing. We were so, so fortunate to be patients in one of the top motility clinics in the country but even still, her GI couldn't find a source for her intestinal problems.
Fast forward a couple of months and right around her first birthday, she had her first MRI. The primary reason was to assess some crazy head growth in that at a year old, her head was the circumference of a full grown adult's. However, her spine was scanned as well and it was discovered that she had a tethered spinal cord where the end of her spinal cord was attached to something at the base (it should be free-floating). Because of the insane constipation issues (three inpatient clean-outs in a six month period) and the fact that she was also showing some developmental delays (not walking and barely crawling, or even rolling), she underwent spinal cord detethering three weeks later, which was to be her first major surgery. Following the surgery, her constipation improved and she started walking. We thought that perhaps her "issues" were beginning to resolve. Little did we know this was just the beginning.
Alison grew into a very "sick" little girl. She always had something - sinus infections, pneumonias, and ear infections. She was still choking when she drank liquids, so when she was two years old, she was referred to an otolaryngologist to investigate why she was having so many problems swallowing. She had a "triple scope" (endoscopy, bronchoscopy, and laryngoscopy) that revealed something called a laryngeal cleft, which basically is a hole in the larynx that allows fluids to pass from the esophagus to the trachea and into the lungs. That explained why she was so sickly and why she got so many pneumonias. The doctors also discovered that she had quite a bit of lung damage from aspirating so much.
She was scheduled for surgery in January of 2008, which would be most challenging since it is a very delicate procedure and required a period of intubation post-surgery. I will never forget watching her as she was wheeled out of the OR "bagged," even though it was only because of the endotracheal tube. She spent the next 24 hours in the ICU sedated and intubated. Her surgeon did not give her a good prognosis saying that the size of the cleft could not account for the degree of aspiration, and that we should start considering neuromuscular diseases as the cause.
Three months later is the first that mitochondrial disease was mentioned as a possibility. Her GI felt that it was logical considering the issues that she had with her GI tract (swallowing and colon), as well as all over low tone that was not resolving with age nor physical therapy. Her neurologist felt otherwise, and after the two of them battled it out, Ali was scheduled for a muscle biopsy the following fall. We received the results approximately three months later that showed serious defects in complex I and IV enzyme activity. Blood work and genetic testing supported this result, and Ali was formally diagnosed in June of 2009.
To date, Ali has a number of medical diagnoses including macrocephaly, astigmatism, dysphagia with chronic aspiration, reflux, laryngeal cleft (repaired), asthma, an atrial septal defect, tachycardia, bilateral hip dysplasia, tethered spinal cord (repaired), global hypotonia, hypermobility, multiple drug allergy syndrome, and autonomic dysfunction. I think that's it. For specialists, she is regularly followed by complex care services, neurosurgery, neurology, cardiology, opthamology, orthopedic surgery, pulmonary, gastroenterology, allergy/immunology, and metabolics. She wears bilateral AFOs, has problems with fatigue and chronic pain, and has a g-tube. According to her GI, we are definitely looking at some type of ostomy in her future, but we're trying to put it off for as long as possible. Over the course of the day, she takes nine different medications and receives 1500mls of fluid through her g-tube.
Despite everything that she has been through, she has faced it all with grace and a sense of determination that amazes me. She is funny, spirited, and oh so smart. All in all, I would say that she totally deserves to receive her "one true wish."
Thanks for reading - I had no idea that this would be so long! I'll have to come back to post about the rest of the family and start with the planning questions - off to do some shoe shopping!
Kelly
You know, she has been through a lot, but it's all she (and we) knows, so it's all good. It's hard to wish away a disease (or disorder, or condition, etc.) when that is part of who your child is. With all my heart, soul, and being, I wish that she didn't have to endure the surgeries, procedures, ill effects, etc., but selfishly, I also love who she is, and I think that everything she has been through has given her a sense of spunk that is hard to otherwise imagine. Does that make sense?
), but her cardiologist did not feel that the ASD had anything to do with her eating issues. At four months, she was officially declared "failure to thrive" and had a feeding tube placed.
The girls are so sweet. I love the sense of community here among the wish trippers, you can really tell when someone "gets" it, and in my eyes, any support is a good thing! I've met a lot of very cool other people on my PTR as well, as I'm sure you will. Looking forward to reading more about you and your family and trip preparations!
