Alanae
Earning My Ears
- Joined
- May 19, 2011
- Messages
- 15
So where to begin:
My daughter Caitlin is 17 now and we found out about Make-A-Wish when she was diagnosed with a terminal illness at 18months of age. We were told at the time that with her diagnosis that her life expectancy wouldn't take her past her 7th birthday. So we decided to wait to contact Make-A-Wish when her condition was still stable but it was looking like the end might be near - have one last rip roaring time to remember forever, a complete blow your mind vacation full of joy and smiles that would have to last us a lifetime. Here we are 15yrs later and finally it's Caitlin's time to make a wish.
We contacted Make-A-Wish and did the initial intake, they sent the paperwork to her doctor, mailed us an acceptance letter, and the paperwork they asked us to send back goes out in the mail today. We don't know when MAW will contact us but in the meantime I am so excited I feel like I'll BURST!
CAITLIN'S STORY
Caitlin started having seizures at 2months old. She started spending more time in the hospital than at home, it got so bad at one point we started leaving luggage at the nurse's station knowing we would return in a few days. We met a wonderful man, Dr. Osterman (neurology), who decided to take on Caitlin's case. For over a year we had this poor man scratching his head. Her seizures weren't definable in any way and her blood tests were baffling at best. He told us we might never have a real diagnosis as to what was going on but that he would try his best to find us answers. Out of sheer frustration he called his cousin, a geneticist, and talked to him about Caitlin and the weird test results and symptoms. The next part is part joy and part pain as he plucked a rare genetic disorder out of the recesses of his mind and said our doctor should do a skin biopsy. So after fighting medicaid to pay for a skin biopsy (out of state) and two skin biopsies later (the first sample was contaminated in our wait for Medicaid to realize that the test had to be done out of state since there were no facilities in our state) we had a definitive diagnosis: Congenital Lactic Acidemia (CLA) in the form of Pyruvate Dehydrogenase Definciency (PDH). Yeah I know it's a mouthful.
So we had a diagnosis and finally we knew what we were dealing with, but there is no treatment or cure for PDH. We signed her up for an experimental study for a new drug treatment when she was 2 and met families from all over the world who had CLA kids. Then 5yrs ago we got a call from the study coordinators- the drug didn't work (which we already knew) and they wanted to know if our daughter was still "with us". Seems our child is the only living survivor from the study. After our initial diagnosis and a short time-line for her life they went from saying she wouldn't make it past 7, then it was 13, and now they stopped guessing. We have been so lucky to have had the time with Caitlin that we've had, all the wonderful memories the other families i met will never have. We've been truly blessed.
Caitlin will be 18 this November, a birthday we never thought we'd be celebrating but it's been a rough year. Last year she started shaking terribly, it started with slight tremors or muscle spasms. We went to cardiologists, endocrinologists, all the "ists" and no one had a clue. While waiting to see the neurologist things got really bad. One morning she woke up and simply lost everything. She could no longer crawl, sit up, use the toilet, eat... it was BAD, so we called the pediatrician and headed to the ER. They took an MRI, something we had avoided for 7yrs and the on-call neurologist came to see us. She walked into our room and stopped short, speechless. Caitlin's MRI had come back and it was bad. Brain death on both the right and left hemispheres of her brain as well as the brain stem. The doctor expected to see a child in a vegetative state not have a full blown conversation with her! She just couldn't figure it out. Yet she still had to fix the terrible muscle spasms that now afflicted my daughter. Although my daughter doesn't have Parkinson's disease her symptoms presented as if she did have the disorder, so a shot in the dark she was placed on meds for Parkinson's, OCD ticks, and a medication for her anxiety that had cropped up in the middle of all of this.
After she was stable she was sent home and the recovery began. Slowly she got back skills, sitting, eating, crawling, toileting... but she has never been quite the same. She tires easily now and is only in school part day and rarely makes it a full week at school even with half days. We had to admit to ourselves that although we have been so lucky with the years and her being stable, that those days were ending. Because of her age we are in a medical grey area. There are no case studies of children with her disorder living this long so the doctors are having to make it up as they go. There is no timeline or idea of lifespan, only the knowledge that the damage is done and is continuing to be done daily. Caitlin's disorder means that she doesn't make what she needs to feel her brain and on top of that instead of making what her brain needs she turns food into high levels of acid. So it's a double whammy for her. Over the years as her brain died slowly it managed to rewire past the dead spots leaving us with a child who functioned relatively well, but those days are now fading. As the damage continues, due to her age, there is no more "rewiring" that can be done. So as more brain tissue dies she will simply lose skills and start going downhill. The doctors have been honest that they make us no promises. She could simply stop breathing tonight in her sleep or she could have a few good years left in her, but we aren't taking any chances. The time for the Wishing has come!!
THE WISHING
Our whole family is excited about Caitlin's wish. It's been the main topic of conversation in our home the last few weeks. I've been doing the research and figuring out the best way to make her wish come true without taxing her already fragile body too much. Trying to weigh the excitement and energy of a Disney trip against a child who tires so easily is difficult. We want her to have this though, the excitement, the joy, the smiles, the magic of it all! We just have to schedule our time a bit to make sure that she gets enough rest and doesn't tire herself out.
So here we are with mail in the mailbox excited to hear back from MAW and see what happens next. Waiting will be the hardest part for us. Time is such a precious commodity to us. We seldom take anything for granted.
I'll keep you all updated as information comes in and our MAW adventure begins.
My daughter Caitlin is 17 now and we found out about Make-A-Wish when she was diagnosed with a terminal illness at 18months of age. We were told at the time that with her diagnosis that her life expectancy wouldn't take her past her 7th birthday. So we decided to wait to contact Make-A-Wish when her condition was still stable but it was looking like the end might be near - have one last rip roaring time to remember forever, a complete blow your mind vacation full of joy and smiles that would have to last us a lifetime. Here we are 15yrs later and finally it's Caitlin's time to make a wish.
We contacted Make-A-Wish and did the initial intake, they sent the paperwork to her doctor, mailed us an acceptance letter, and the paperwork they asked us to send back goes out in the mail today. We don't know when MAW will contact us but in the meantime I am so excited I feel like I'll BURST!
CAITLIN'S STORY
Caitlin started having seizures at 2months old. She started spending more time in the hospital than at home, it got so bad at one point we started leaving luggage at the nurse's station knowing we would return in a few days. We met a wonderful man, Dr. Osterman (neurology), who decided to take on Caitlin's case. For over a year we had this poor man scratching his head. Her seizures weren't definable in any way and her blood tests were baffling at best. He told us we might never have a real diagnosis as to what was going on but that he would try his best to find us answers. Out of sheer frustration he called his cousin, a geneticist, and talked to him about Caitlin and the weird test results and symptoms. The next part is part joy and part pain as he plucked a rare genetic disorder out of the recesses of his mind and said our doctor should do a skin biopsy. So after fighting medicaid to pay for a skin biopsy (out of state) and two skin biopsies later (the first sample was contaminated in our wait for Medicaid to realize that the test had to be done out of state since there were no facilities in our state) we had a definitive diagnosis: Congenital Lactic Acidemia (CLA) in the form of Pyruvate Dehydrogenase Definciency (PDH). Yeah I know it's a mouthful.
So we had a diagnosis and finally we knew what we were dealing with, but there is no treatment or cure for PDH. We signed her up for an experimental study for a new drug treatment when she was 2 and met families from all over the world who had CLA kids. Then 5yrs ago we got a call from the study coordinators- the drug didn't work (which we already knew) and they wanted to know if our daughter was still "with us". Seems our child is the only living survivor from the study. After our initial diagnosis and a short time-line for her life they went from saying she wouldn't make it past 7, then it was 13, and now they stopped guessing. We have been so lucky to have had the time with Caitlin that we've had, all the wonderful memories the other families i met will never have. We've been truly blessed.
Caitlin will be 18 this November, a birthday we never thought we'd be celebrating but it's been a rough year. Last year she started shaking terribly, it started with slight tremors or muscle spasms. We went to cardiologists, endocrinologists, all the "ists" and no one had a clue. While waiting to see the neurologist things got really bad. One morning she woke up and simply lost everything. She could no longer crawl, sit up, use the toilet, eat... it was BAD, so we called the pediatrician and headed to the ER. They took an MRI, something we had avoided for 7yrs and the on-call neurologist came to see us. She walked into our room and stopped short, speechless. Caitlin's MRI had come back and it was bad. Brain death on both the right and left hemispheres of her brain as well as the brain stem. The doctor expected to see a child in a vegetative state not have a full blown conversation with her! She just couldn't figure it out. Yet she still had to fix the terrible muscle spasms that now afflicted my daughter. Although my daughter doesn't have Parkinson's disease her symptoms presented as if she did have the disorder, so a shot in the dark she was placed on meds for Parkinson's, OCD ticks, and a medication for her anxiety that had cropped up in the middle of all of this.
After she was stable she was sent home and the recovery began. Slowly she got back skills, sitting, eating, crawling, toileting... but she has never been quite the same. She tires easily now and is only in school part day and rarely makes it a full week at school even with half days. We had to admit to ourselves that although we have been so lucky with the years and her being stable, that those days were ending. Because of her age we are in a medical grey area. There are no case studies of children with her disorder living this long so the doctors are having to make it up as they go. There is no timeline or idea of lifespan, only the knowledge that the damage is done and is continuing to be done daily. Caitlin's disorder means that she doesn't make what she needs to feel her brain and on top of that instead of making what her brain needs she turns food into high levels of acid. So it's a double whammy for her. Over the years as her brain died slowly it managed to rewire past the dead spots leaving us with a child who functioned relatively well, but those days are now fading. As the damage continues, due to her age, there is no more "rewiring" that can be done. So as more brain tissue dies she will simply lose skills and start going downhill. The doctors have been honest that they make us no promises. She could simply stop breathing tonight in her sleep or she could have a few good years left in her, but we aren't taking any chances. The time for the Wishing has come!!
THE WISHING
Our whole family is excited about Caitlin's wish. It's been the main topic of conversation in our home the last few weeks. I've been doing the research and figuring out the best way to make her wish come true without taxing her already fragile body too much. Trying to weigh the excitement and energy of a Disney trip against a child who tires so easily is difficult. We want her to have this though, the excitement, the joy, the smiles, the magic of it all! We just have to schedule our time a bit to make sure that she gets enough rest and doesn't tire herself out.
So here we are with mail in the mailbox excited to hear back from MAW and see what happens next. Waiting will be the hardest part for us. Time is such a precious commodity to us. We seldom take anything for granted.
I'll keep you all updated as information comes in and our MAW adventure begins.
Thanks for share your story!! Two parks at WDW has Wish Lounge, where you dd could rest and take a nap!!
