Luna's fight against CMT
Donation protected
Hello family and friends,
Below is our story. A story about a little girl who has the courage of a lion and a family trying to raise awareness and generate action for a disease that has touched our three year old daughter Luna.
This all started in January when we noticed Luna’s gait seemed a little awkward. We took her to the pediatrician and he noticed her ankle reflexes were slow and she couldn’t rotate back on her heels and lift her toes. It was determined that she had foot drop in her right leg. It quickly showed up in the left leg as well. Foot drop is basically the inability to lift your toes when walking causing you to waddle or high step and trip a lot because your feet are floppy and working against you. This is challenging for a toddler to say the least.
Thankfully, we’ve been able to tackle this head on. Luna now wears ankle-foot-braces for added support and balance in her legs and she goes to physical therapy once a week to strengthen all her mobility muscles (legs, core, hips, etc.). She calls her braces “storm trooper legs” and they have little hearts on them and she loves them. Going to physical therapy, or what she calls the “play doctor”, is a fun excursion for her. Thanks to the braces and PT, foot drop isn’t a huge factor in Luna’s day-to-day life; she is in ballet and tap, she runs with friends at daycare, swims like a fish, rides her tricycle and so on. And we thank God every single day for that.
What we’ve learned is that the foot drop is being caused by CMT, a genetic disease that damages the peripheral nerves in your limbs. There are about 90 types of CMT based on the specific mutated gene. Luna’s type is CMT2A. It is a progressive disease and may continue to impact her mobility as she grows older, though the level of the severity is unknown. It is not life threatening and has no affect on her cognitive development but could travel to her arms making day to day activities more difficult. There is a chance that her current status is as far as the disease will progress and we will pray that is the case. There are no treatments to stop the progression, there is no cure.
Needless to say we were shocked at this diagnosis. CMT is generally passed from generation to generation through a dominant gene pattern, meaning a child with CMT typically has a parent with CMT. Neither Tiffany or I have any signs or family history of this kind of neuropathy but we will confirm if we have the affected genes in November. If we don’t have the gene and Luna got it “spontaneously”, it is extremely unlikely that her sister Raina (9 weeks old) would end up with CMT. If we happen to have the genes, there is an outside chance Raina may have the same issues as Luna.
CMT is not uncommon, 1 in 2500 people have it, though it remains an unknown disease. That is why I’m posting today. We need something like the ALS Ice Bucket Challenge but I’ve decided to start small and reach out to you, our family and friends.
How the Fund will be used:
CMT is a complicated disease and with 90 types out there today (with more being found all the time), we want our family and friends to have targeted impact if they donate. The fund will be split three ways: 1) 50% donated to targeted research specific to CMT2A; 2) 25% to go to Luna now to ensure she continues to get the best treatments available (e.g. physical therapy, braces, specialists, etc.); 3) 25% to be invested for Luna’s future since this is a lifelong disease.
Most importantly, we want to bring awareness to CMT. Google it, look at the CMTAUSA.org webpage, share this post, ask me questions. We need more people to know about this disease. We need to find treatments that can stop the progression and a cure to make sure no one else suffers from this disease.
Luna is so brave and has shown so much courage that Tiffany and I are in awe and inspired by her tenacity and passion for life. She is so kind and gentle, and not deserving of this. Our hope is that CMT remains a non issue in her life. That it never progresses at all or that medical research finds treatments to stop any future progression. This is our prayer and we hope you join us in that prayer. God bless you all.
Below is our story. A story about a little girl who has the courage of a lion and a family trying to raise awareness and generate action for a disease that has touched our three year old daughter Luna.
This all started in January when we noticed Luna’s gait seemed a little awkward. We took her to the pediatrician and he noticed her ankle reflexes were slow and she couldn’t rotate back on her heels and lift her toes. It was determined that she had foot drop in her right leg. It quickly showed up in the left leg as well. Foot drop is basically the inability to lift your toes when walking causing you to waddle or high step and trip a lot because your feet are floppy and working against you. This is challenging for a toddler to say the least.
Thankfully, we’ve been able to tackle this head on. Luna now wears ankle-foot-braces for added support and balance in her legs and she goes to physical therapy once a week to strengthen all her mobility muscles (legs, core, hips, etc.). She calls her braces “storm trooper legs” and they have little hearts on them and she loves them. Going to physical therapy, or what she calls the “play doctor”, is a fun excursion for her. Thanks to the braces and PT, foot drop isn’t a huge factor in Luna’s day-to-day life; she is in ballet and tap, she runs with friends at daycare, swims like a fish, rides her tricycle and so on. And we thank God every single day for that.
What we’ve learned is that the foot drop is being caused by CMT, a genetic disease that damages the peripheral nerves in your limbs. There are about 90 types of CMT based on the specific mutated gene. Luna’s type is CMT2A. It is a progressive disease and may continue to impact her mobility as she grows older, though the level of the severity is unknown. It is not life threatening and has no affect on her cognitive development but could travel to her arms making day to day activities more difficult. There is a chance that her current status is as far as the disease will progress and we will pray that is the case. There are no treatments to stop the progression, there is no cure.
Needless to say we were shocked at this diagnosis. CMT is generally passed from generation to generation through a dominant gene pattern, meaning a child with CMT typically has a parent with CMT. Neither Tiffany or I have any signs or family history of this kind of neuropathy but we will confirm if we have the affected genes in November. If we don’t have the gene and Luna got it “spontaneously”, it is extremely unlikely that her sister Raina (9 weeks old) would end up with CMT. If we happen to have the genes, there is an outside chance Raina may have the same issues as Luna.
CMT is not uncommon, 1 in 2500 people have it, though it remains an unknown disease. That is why I’m posting today. We need something like the ALS Ice Bucket Challenge but I’ve decided to start small and reach out to you, our family and friends.
How the Fund will be used:
CMT is a complicated disease and with 90 types out there today (with more being found all the time), we want our family and friends to have targeted impact if they donate. The fund will be split three ways: 1) 50% donated to targeted research specific to CMT2A; 2) 25% to go to Luna now to ensure she continues to get the best treatments available (e.g. physical therapy, braces, specialists, etc.); 3) 25% to be invested for Luna’s future since this is a lifelong disease.
Most importantly, we want to bring awareness to CMT. Google it, look at the CMTAUSA.org webpage, share this post, ask me questions. We need more people to know about this disease. We need to find treatments that can stop the progression and a cure to make sure no one else suffers from this disease.
Luna is so brave and has shown so much courage that Tiffany and I are in awe and inspired by her tenacity and passion for life. She is so kind and gentle, and not deserving of this. Our hope is that CMT remains a non issue in her life. That it never progresses at all or that medical research finds treatments to stop any future progression. This is our prayer and we hope you join us in that prayer. God bless you all.
Organizer
Robert Chappell
Organizer
Greenville, SC