Cole's Cause
Cole's Story
Cole was born on March 18, 2008. Although he was 5 weeks early he weighed 5lbs 15 ounces was 18.5 inches long and deemed totally healthy. A term we will probably never hear again to describe our Son.
At 3 months Cole was diagnosed with Trachael Malacia which meant he had excess tissue in front of his voice box and on his eppiglottis. When he took a breath in the tissue would collapse over his airway making breathing and feeding difficult. A supraglattoplasty was performed to trim off the excess tissue and immediately Cole's feeding and breathing improved.
Shortly after it was discovered that Cole was suffering from a rare eye disease, originally thought to be either bilateral Coats disease or FEVR. Instead of the veins in Cole's eyes being water tight they leak fluid. Not only is the fluid building up behind Cole's retina but it actually builds up between the individual layers of his retina itself. Something his retina surgeon has not seen in over 20 years. After 1 laser/cryo to stop the leaking they believe that his left eye is capable of perfect vision. As for his right eye the goal is to keep him from losing his vision all together. He has had 4 laser/cryo surgeries a injection to stop bleeding vessels and a vitrectomy. They believe he probably sees shadows out of the eye but we will not know for sure until he can tell us. It is unknown how many more preventive surgeries Cole will need.
Although Cole passed his infant hearing screening when he was first born we decided to request another hearing test just to cover our bases. We were shocked to find out that Cole has a severe bilateral sensorineural hearing loss. Cole hears about half of what most people hear. He has hearing aides that put his hearing at the low end of normal. It is unknown if Cole's hearing will stay where it is now or if he will eventually lose it all together.
On December 22nd Cole was diagnosed with Infantile Spasms a rare seizure disorder. Infantile spasms do not look like typical seizures, they look more like a muscle twitch which is why he went undiagnosed for so long. It is the part you cannot see that you have to worry about Cole's brain waves were being interupted every 1-2 seconds and we had no idea. We began ACTH steroid injections on 12/31. Every night for a month we injected him in the thigh with the steroid. It worked well enough to control the IS although his EEG was still abnormal. Unfortunately we just lost seizure control and are working hard to regain it.
As an update Cole has outgrown his Infantile Spasms seizure disorder. However he is now suffering from Intractable Encephalopathy Epilepsy which is actually worse than the Infantile Spasms. He also was diagnosed with a Kidney Disease called proteinuria which means his kidneys are hyperfiltering protein. Hyperfiltering causes scar tissue to form in the filters of the kidneys and eventually leads to kidney failure. The normal level of protein in your urine should be a .2 Coles is a 24. At this level it will be about 2 years max before Cole will need a kidney transplant.
Cole has gone through EEGs, VEEGs, MRIs, PET scans, EKGs, Ultra sounds, biopsies and countless blood tests. None of which have given us a diagnosis. Everywhere we go we are told "We have never seen another case like him. We don't know what is wrong with him. We don't know if he will ever crawl, walk or talk. He will write his own story."
At 3 months Cole was diagnosed with Trachael Malacia which meant he had excess tissue in front of his voice box and on his eppiglottis. When he took a breath in the tissue would collapse over his airway making breathing and feeding difficult. A supraglattoplasty was performed to trim off the excess tissue and immediately Cole's feeding and breathing improved.
Shortly after it was discovered that Cole was suffering from a rare eye disease, originally thought to be either bilateral Coats disease or FEVR. Instead of the veins in Cole's eyes being water tight they leak fluid. Not only is the fluid building up behind Cole's retina but it actually builds up between the individual layers of his retina itself. Something his retina surgeon has not seen in over 20 years. After 1 laser/cryo to stop the leaking they believe that his left eye is capable of perfect vision. As for his right eye the goal is to keep him from losing his vision all together. He has had 4 laser/cryo surgeries a injection to stop bleeding vessels and a vitrectomy. They believe he probably sees shadows out of the eye but we will not know for sure until he can tell us. It is unknown how many more preventive surgeries Cole will need.
Although Cole passed his infant hearing screening when he was first born we decided to request another hearing test just to cover our bases. We were shocked to find out that Cole has a severe bilateral sensorineural hearing loss. Cole hears about half of what most people hear. He has hearing aides that put his hearing at the low end of normal. It is unknown if Cole's hearing will stay where it is now or if he will eventually lose it all together.
On December 22nd Cole was diagnosed with Infantile Spasms a rare seizure disorder. Infantile spasms do not look like typical seizures, they look more like a muscle twitch which is why he went undiagnosed for so long. It is the part you cannot see that you have to worry about Cole's brain waves were being interupted every 1-2 seconds and we had no idea. We began ACTH steroid injections on 12/31. Every night for a month we injected him in the thigh with the steroid. It worked well enough to control the IS although his EEG was still abnormal. Unfortunately we just lost seizure control and are working hard to regain it.
As an update Cole has outgrown his Infantile Spasms seizure disorder. However he is now suffering from Intractable Encephalopathy Epilepsy which is actually worse than the Infantile Spasms. He also was diagnosed with a Kidney Disease called proteinuria which means his kidneys are hyperfiltering protein. Hyperfiltering causes scar tissue to form in the filters of the kidneys and eventually leads to kidney failure. The normal level of protein in your urine should be a .2 Coles is a 24. At this level it will be about 2 years max before Cole will need a kidney transplant.
Cole has gone through EEGs, VEEGs, MRIs, PET scans, EKGs, Ultra sounds, biopsies and countless blood tests. None of which have given us a diagnosis. Everywhere we go we are told "We have never seen another case like him. We don't know what is wrong with him. We don't know if he will ever crawl, walk or talk. He will write his own story."
Dear Cole,
Mommy and Daddy wanted to write you a letter to let you know how proud we are of you and all that you have accomplished. We know at times you must get very frustrated with us. We can't imagine how hard it is not to be able to tell us your wants and needs or voice your feelings. We hope we are doing okay by you.
Someday down the road all the tummy time and other exercises will pay off and we hope you will see that we do everything out of love. We know how hard you have fought and fight everyday and promise to fight as hard as we can for you.
Cole you are the strongest little boy we have ever met. We can't imagine how scary this journey has been for you and how much stress it has put on you. People always say they don't know how we do it, but the truth is you are the one that does it all. You are the amazing one, the brave one, the strong one and among other things the inspiring one.
They say they don't know how much you understand, or if you understand anything at all. We often wonder if you are scared as you are put through all these tests. If you are calling out for us on the inside even though you can't speak the words. If the smell of the EEG is just as familiar to you as it is to us. If you are scared we want you to know we are sorry.
Our biggest fear is that we will stop searching too soon and in turn will fail you. We are scared too. Scared of not having a diagnosis, scared of getting a diagnosis, scared of the surgeries, the tests, and the side effects of the medicines. We are scared that we aren't doing enough and that we are doing too much at the same time.
We want you to know how proud we are of you and that everything we do is out of love. We promise to keep fighting the fight beside you and to never quit on you. We hope someday you are just as proud of us as we are of you.
We may not know what our future holds Cole but you are the absolute best thing that has ever happened to either of us, and we couldnt imagine our lives without you. We would go to the end of the world and back for you Buddy.
We Love You,
Mommy & Daddy
Mommy and Daddy wanted to write you a letter to let you know how proud we are of you and all that you have accomplished. We know at times you must get very frustrated with us. We can't imagine how hard it is not to be able to tell us your wants and needs or voice your feelings. We hope we are doing okay by you.
Someday down the road all the tummy time and other exercises will pay off and we hope you will see that we do everything out of love. We know how hard you have fought and fight everyday and promise to fight as hard as we can for you.
Cole you are the strongest little boy we have ever met. We can't imagine how scary this journey has been for you and how much stress it has put on you. People always say they don't know how we do it, but the truth is you are the one that does it all. You are the amazing one, the brave one, the strong one and among other things the inspiring one.
They say they don't know how much you understand, or if you understand anything at all. We often wonder if you are scared as you are put through all these tests. If you are calling out for us on the inside even though you can't speak the words. If the smell of the EEG is just as familiar to you as it is to us. If you are scared we want you to know we are sorry.
Our biggest fear is that we will stop searching too soon and in turn will fail you. We are scared too. Scared of not having a diagnosis, scared of getting a diagnosis, scared of the surgeries, the tests, and the side effects of the medicines. We are scared that we aren't doing enough and that we are doing too much at the same time.
We want you to know how proud we are of you and that everything we do is out of love. We promise to keep fighting the fight beside you and to never quit on you. We hope someday you are just as proud of us as we are of you.
We may not know what our future holds Cole but you are the absolute best thing that has ever happened to either of us, and we couldnt imagine our lives without you. We would go to the end of the world and back for you Buddy.
We Love You,
Mommy & Daddy
Some facts:
- Cole loves riding in the car!
- Cole just started preschool and loves being around the other kids.
- Cole loves to laugh and giggle and has developed an amazing personality!
- Cole loves to paint with him his hands and his feet!
