For years the doctors have been saying everything wrong with me is just all part of a jigsaw puzzle and today we got the final piece of that puzzle. Back in December I had genetic testing done as part of research to see if they could figure out why I have a long list of things wrong with me. In April Mammy got a phone call saying they had found something but they would need a new sample to send to another lab to confirm what they found. Well the results are back and what I have is very rare. I have protein disorder on Chromosome 13 called COL4A1. What makes mine rare is the variant G755R I have on this gene as mine in not something I got from my Mammy or Daddy its just something that happened to me. They call it a De Novo. Now there are De Novo findings on COL4A1 but not on the variant I have.
So this COL4A1 (G755R) is what caused the stroke, the seizures, the cataracts, the reason I am small and the list goes on and on. Now there is no cure for what I have I just have to follow up with all the special doctors I now see so they can keep an eye on things.
Wait until I tell you where I am going. I am going to Lourdes,France on a pilgrimage trip with other special kids. So give a big shout out to The Knights of Columbus Our Lady of Lourdes Council in Washingtonville, New York for sponsoring this trip for us. You can also help by giving a tax deductable donation to OUR LADY OF LOURDES BENEVOLENT ASSOCIATION INC.
You can mail it to Knights of Columbus
Attention Lourdes Program
18 Hallock Dr,
Washingtonville, NY 10992
This year they are bringing 7 children and a parent/guardian for each child on this wonderful pilgrimage trip. So we are flying out on Sunday June 26th and returning on July 5th. Grandma is coming with us but she had to pay for her trip. It will be her first time in Europe. So Mammy is starting to put my list of supplies together and pack them in our suitcases for our trip.
Daddy got good news from his last scan he had he is still in remission from his stage 3 Diffused Large B Cell Lymophoma.
School is almost over and soon Eoghan and Maurs will be on vacation. I will be off for a few weeks and then I start back with my summer program. I will let you all know we are going to Ireland or as Mammy says we are going home for a holiday the end of July. I have only been there once and that was a long time ago almost 8 years ago. Only Eoghan has gone back to Ireland with Nanny for a holiday since we were there last.
Well Sin e
Wednesday, June 15, 2016
Saturday, February 20, 2016
Guess what I did?????????
You all know I have brain damage from a stroke that I had before I was born.Then I had Infantile Spasms which is a seizure disorder that can cause more damage if the seizures are not controlled. Some babies and children are lucky and treatment works on them but I was almost 3 years old when we finally got these seizures to stop so it caused more damage to my brain. So I have to work so much harder to do some of the things we take for granted that all babies/kids can do. There is a part of your brain that controls movement and another part that controls balance well those parts don't work all that great for me. That is why I cannot sit up on my own. I have worked really hard that sometimes I can sit on my own but if I lean a little too much I will just fall over. The same with getting my arms and legs to do what I want them. Sometimes I can get them to do what I want and then there are other times I wish they would stop moving but I cannot control all my movements.
I was probably 4 1/2 years old when I first stayed sitting up on my own. It was at the beach and I was sitting in the sand by the waters edge. The tide was rolling in and for some reason I was able to stay sitting up on my own. They think the position i was sitting in, the sensory input I was getting from the sand and the water made some triggers for me to stay sitting. Hey what ever did it I sat up on my own. Most babies have sitting mastered by 6-7 months it only took me 4 1/2 years to do it.
Standing has been hard because for the longest time I didn't know what my legs were for. When I was little Mammy used to put me in a contraption and I hated it. I would cry and scream but she knew I wasn't hurt or in pain I just bloody didn't want to do it. All I wanted was to lie down and suck my thumb. Why should I stand I wasn't comfortable and I didn't like it. My Mammy made me do it she often said it broke her heart to hear me cry but she was only doing it for my own good. She would put my music on and she would tell me that once I stopped screaming I would be able to hear my Andrea Bocelli. You know she was right.
Then my seizures kicked up again and for a while I wasn't able to use my stander or there were times I wasn't even able to wear my leg braces. The ortho thought Mammy was crazy when she asked about braces and pushed for my surgeries on my legs. Mammy doesn't believe in putting a patch on things she believes on fixing the problem. I have had 5 surgeries so far on my legs and I will be having another one some time this year.
I have been able to hold a standing position holding on or leaning against someone or some thing for awhile.Mammy said it was a goal she set for me once they said that I would probably be very tall when I grow up. All she could thing was how in the hell would she be able to move me from the van to my wheelchair or even from my bed to my wheelchair. So getting me to hold a standing position was the goal. I can do it and believe me I do hold on tight so I don't go down with a bang. .
Because my legs don't always get the signal from my brain to move walking or even taking steps has been a long work in progress. They won't approve a gait trainer that is just a fancy walker with all the bells and whistles on it because I don't take steps. I am getting bigger so its not like you are taking your 10-11 month old baby by the arms and telling them to step. I am 4 foot tall and weight 42lbs so I am a bit taller and heavier than a little baby so its not as easy on the person who is helping me. There is a device that a Mom invented but I am too big for the largest size that they make. Its called The Upsee you can check it out here http://www.fireflyfriends.com/upsee So if your child is too big for the traditional baby walker this might work for you.
Last year some amazing people bought me a special needs tricycle. The goal with using the tricycle was to build up my legs and believe it or not but I can make the trike move all by myself. So with my legs being stronger and being able to hold me up the next goal was to start me stepping. That is usually a 2 man job as someone has to hold me upright and someone else has to make me move my legs. All the time spent on my trike is paying off as I just took my first steps last night with Mammy. I really surprised her when I did it I think I surprised myself too as I could not stop laughing. Then my tooth fell out and I swallowed it. Guess the tooth fairy won't be paying me a visit
My Mammy has put a lot of time,effort, sweat and tears in to me. People have told her she is crazy and she shouldn't be pushing me some have even said she is a bully for making me do these things. You know if she let me do what I wanted to do I wouldn't be able to do half the things I can do. Oh yes I didn't like to do them and I was very vocal about it but you know she was right all the hard work does pay off in the end. My Mammy didn't give up on me and she made me do things like a Spartan race and I have a lot of people to thank for getting me to the finish line. Oh I can also swim and I learned all on my own with Mammys help
I was probably 4 1/2 years old when I first stayed sitting up on my own. It was at the beach and I was sitting in the sand by the waters edge. The tide was rolling in and for some reason I was able to stay sitting up on my own. They think the position i was sitting in, the sensory input I was getting from the sand and the water made some triggers for me to stay sitting. Hey what ever did it I sat up on my own. Most babies have sitting mastered by 6-7 months it only took me 4 1/2 years to do it.
Standing has been hard because for the longest time I didn't know what my legs were for. When I was little Mammy used to put me in a contraption and I hated it. I would cry and scream but she knew I wasn't hurt or in pain I just bloody didn't want to do it. All I wanted was to lie down and suck my thumb. Why should I stand I wasn't comfortable and I didn't like it. My Mammy made me do it she often said it broke her heart to hear me cry but she was only doing it for my own good. She would put my music on and she would tell me that once I stopped screaming I would be able to hear my Andrea Bocelli. You know she was right.
Then my seizures kicked up again and for a while I wasn't able to use my stander or there were times I wasn't even able to wear my leg braces. The ortho thought Mammy was crazy when she asked about braces and pushed for my surgeries on my legs. Mammy doesn't believe in putting a patch on things she believes on fixing the problem. I have had 5 surgeries so far on my legs and I will be having another one some time this year.
I have been able to hold a standing position holding on or leaning against someone or some thing for awhile.Mammy said it was a goal she set for me once they said that I would probably be very tall when I grow up. All she could thing was how in the hell would she be able to move me from the van to my wheelchair or even from my bed to my wheelchair. So getting me to hold a standing position was the goal. I can do it and believe me I do hold on tight so I don't go down with a bang. .
Because my legs don't always get the signal from my brain to move walking or even taking steps has been a long work in progress. They won't approve a gait trainer that is just a fancy walker with all the bells and whistles on it because I don't take steps. I am getting bigger so its not like you are taking your 10-11 month old baby by the arms and telling them to step. I am 4 foot tall and weight 42lbs so I am a bit taller and heavier than a little baby so its not as easy on the person who is helping me. There is a device that a Mom invented but I am too big for the largest size that they make. Its called The Upsee you can check it out here http://www.fireflyfriends.com/upsee So if your child is too big for the traditional baby walker this might work for you.
Last year some amazing people bought me a special needs tricycle. The goal with using the tricycle was to build up my legs and believe it or not but I can make the trike move all by myself. So with my legs being stronger and being able to hold me up the next goal was to start me stepping. That is usually a 2 man job as someone has to hold me upright and someone else has to make me move my legs. All the time spent on my trike is paying off as I just took my first steps last night with Mammy. I really surprised her when I did it I think I surprised myself too as I could not stop laughing. Then my tooth fell out and I swallowed it. Guess the tooth fairy won't be paying me a visit
My Mammy has put a lot of time,effort, sweat and tears in to me. People have told her she is crazy and she shouldn't be pushing me some have even said she is a bully for making me do these things. You know if she let me do what I wanted to do I wouldn't be able to do half the things I can do. Oh yes I didn't like to do them and I was very vocal about it but you know she was right all the hard work does pay off in the end. My Mammy didn't give up on me and she made me do things like a Spartan race and I have a lot of people to thank for getting me to the finish line. Oh I can also swim and I learned all on my own with Mammys help
Thursday, January 28, 2016
Happy 11th Birthday Finnian!!!!!!!!!
Its hard to believe that you are 11 years old today lovey. I still remember like it was yesterday. Honestly we weren't given much hope for you to be even born alive. When you were born you cried they said you wouldn't. Oh I can still hear the little sounds you made. Gasúr you were born fighting and you are still fighting.
I have no idea how many times were have been told you won't but yet you still throw them for a loop and show them you can. Yes you have issues, big issues but when you smile we don't see them and they don't define who you are. I won't paint it like its easy because its not but honestly you are worth it. We have had some rocky and scary times with you lovey but its made us who we are. Different, compassionate, humbled and you have made us see outside the box and not to look at everything as black and white.
Yes you are a medically fragile child and we know that your life could end at any time but we are not sitting back and waiting for that to happen. You are not someone to be left out just because you are different. I have been asked why I do the things with you that I do and all I can say is that trapped inside is a little boy who needs to experience what every little boy likes to do.
You are not the typical little brother and yes Eoghan and Maurs love you. Even though you can cause major upheaval in their lives they are better kids because of you. I think you have made me a better parent to them too. Even though its been said to me that you rule the roost and we do things around you and how your day is going, but that is not true. At one time yes that was true but then when your brother pointed out how we weren't doing those normal things I realized you weren't getting to experience normal things too. So everyone was losing out but not anymore.
I am sorry you had to spend some of your birthday in the emergency room but without a fully functioning g-tube you wouldn't be a happy boy. So lovey HAPPY 11th BIRTHDAY!!!!!!!!!!!!!
I have no idea how many times were have been told you won't but yet you still throw them for a loop and show them you can. Yes you have issues, big issues but when you smile we don't see them and they don't define who you are. I won't paint it like its easy because its not but honestly you are worth it. We have had some rocky and scary times with you lovey but its made us who we are. Different, compassionate, humbled and you have made us see outside the box and not to look at everything as black and white.
Yes you are a medically fragile child and we know that your life could end at any time but we are not sitting back and waiting for that to happen. You are not someone to be left out just because you are different. I have been asked why I do the things with you that I do and all I can say is that trapped inside is a little boy who needs to experience what every little boy likes to do.
You are not the typical little brother and yes Eoghan and Maurs love you. Even though you can cause major upheaval in their lives they are better kids because of you. I think you have made me a better parent to them too. Even though its been said to me that you rule the roost and we do things around you and how your day is going, but that is not true. At one time yes that was true but then when your brother pointed out how we weren't doing those normal things I realized you weren't getting to experience normal things too. So everyone was losing out but not anymore.
I am sorry you had to spend some of your birthday in the emergency room but without a fully functioning g-tube you wouldn't be a happy boy. So lovey HAPPY 11th BIRTHDAY!!!!!!!!!!!!!
Saturday, January 9, 2016
Not my happy self
For the past week or so my seizures have not behaving. They happen when I wake up and are usually less than a minute and they can well usually happen when I am going to sleep but are less than a minute. Well this week I have been having more of them. Thursday was a really bad day a really, really bad day. Mammy even had packed my "Go Bag". She had even called and talked to the Nurse Practitioner to let her know that I was having a bad day. I had already gotten 2 rescue meds and they were only slowing down my seizures not stopping them. So they came up with a plan I got my afternoon meds about and hour before I usually get them. If I wasn't any better I should go down to the ER and she would get them to admit me upstairs. Well I finally went to sleep and stayed asleep for about 5 hours. When I woke up I had a little seizure and it stopped on its own.
Friday I was very sleepy and Mammy was happy that my teacher called to say he wouldn't be able to make it so Mammy let me sleep. So I slept the day away but when I woke up I had seizures again but I got my rescue med and the rest of the day wasn't so bad.
I got washed and dressed today and stayed asleep and as soon as Mammy put me in the van and put my music on I woke up and started singing. Guess what?? NO SEIZURES!!!!!!!!!!!!! Today has been a good day a really really good day. I only had 1 seizure and that was when I woke up from my nap.
I have a few appointments coming up my PET Scan has been scheduled, my Botox shots have been scheduled but we might have to change that appointment. Still waiting to see when I will be going in on my holidays and also waiting for my MRI appointment. Then once all that is done then they will have a meeting with all the big wigs and see if they can do surgery to help stop some of my seizures.
Sín é
Friday I was very sleepy and Mammy was happy that my teacher called to say he wouldn't be able to make it so Mammy let me sleep. So I slept the day away but when I woke up I had seizures again but I got my rescue med and the rest of the day wasn't so bad.
I got washed and dressed today and stayed asleep and as soon as Mammy put me in the van and put my music on I woke up and started singing. Guess what?? NO SEIZURES!!!!!!!!!!!!! Today has been a good day a really really good day. I only had 1 seizure and that was when I woke up from my nap.
I have a few appointments coming up my PET Scan has been scheduled, my Botox shots have been scheduled but we might have to change that appointment. Still waiting to see when I will be going in on my holidays and also waiting for my MRI appointment. Then once all that is done then they will have a meeting with all the big wigs and see if they can do surgery to help stop some of my seizures.
Sín é
Sunday, January 3, 2016
Happy New Year 2016!!!!
Happy New Year everyone!!!! Well we will see if Mammy will keep up on my page this year,
Highlights of last year
Some really, really, really nice people got me my tricycle. Thank you very much. I love going out riding my bike.
Look no hands!!!
This summer my Daddy was diagnosed with Non Hodgkins Lymphoma. He had to have his spleen and part of his pancrease removed because there were tumors. Then he came home from the hospital and then he started his chemo treatments. Then he had to get a special tube put in his arm so they could give him his chemo. Mammy had to take care of that and once a week Karl would come in and change the dressing.
So Mammy had a busy summer between my appointments and Daddy's appointments.Then Maurs fell off her scooter and broke her arm so Mammy had to go to the emergency room with her. Maurs was in the Youth Police Academy with the broken arm so she had to drop her off and pick her up. Eoghan and Nanny didn't get to go to Ireland with everything that was going on.
I had one of my seizure medications changed and it seems to be working. I had a hospital stay the end of September and they saw the usual stuff with my seizures. Shortly after I started doing something Mammy was wondering about if it was seizures or not so I got to go on my holidays again in December. Yup Mammy was right. It is seizures but the new medication seems to be working on some of my seizures. Now I have one spot that is shooting seizures all the time so they are going to look in to see if maybe they can do surgery. Nobody panic there is a lot they have to check out before we would meet with the surgery people and even with all the tests they still might say "No".
They are also doing a gene study and we got asked if we would like to be part of it. Of course Mammy said yes. This test is really expensive and they might be able to find out what is wrong with me. Now its going to take months before we will hear anything. Any tests I have had in the past have all been normal but this test might just might give us answers but then again might leave us with bigger questions. Time will let us know if they find anything.
I got to see Santa and oh was I so excited even Eoghan and Maurs got their picture taken with me and Santa.
I might have to have surgery on my hip its a bit dodgy but so far so good it hasn't given me a lot of problems. I am also getting real food no more formula and since Mammy started me on food I have grown and put some weight on. I get so excited when I hear the blender going that is the bell to tell me its food time. Mammy uses a syringe and puts the food in to my belly with the feeding tube.
So let's see what 2016 has in store for me this year!!!!!
Sín é
Highlights of last year
Some really, really, really nice people got me my tricycle. Thank you very much. I love going out riding my bike.
This summer my Daddy was diagnosed with Non Hodgkins Lymphoma. He had to have his spleen and part of his pancrease removed because there were tumors. Then he came home from the hospital and then he started his chemo treatments. Then he had to get a special tube put in his arm so they could give him his chemo. Mammy had to take care of that and once a week Karl would come in and change the dressing.
So Mammy had a busy summer between my appointments and Daddy's appointments.Then Maurs fell off her scooter and broke her arm so Mammy had to go to the emergency room with her. Maurs was in the Youth Police Academy with the broken arm so she had to drop her off and pick her up. Eoghan and Nanny didn't get to go to Ireland with everything that was going on.
I had one of my seizure medications changed and it seems to be working. I had a hospital stay the end of September and they saw the usual stuff with my seizures. Shortly after I started doing something Mammy was wondering about if it was seizures or not so I got to go on my holidays again in December. Yup Mammy was right. It is seizures but the new medication seems to be working on some of my seizures. Now I have one spot that is shooting seizures all the time so they are going to look in to see if maybe they can do surgery. Nobody panic there is a lot they have to check out before we would meet with the surgery people and even with all the tests they still might say "No".
They are also doing a gene study and we got asked if we would like to be part of it. Of course Mammy said yes. This test is really expensive and they might be able to find out what is wrong with me. Now its going to take months before we will hear anything. Any tests I have had in the past have all been normal but this test might just might give us answers but then again might leave us with bigger questions. Time will let us know if they find anything.
I got to see Santa and oh was I so excited even Eoghan and Maurs got their picture taken with me and Santa.
I might have to have surgery on my hip its a bit dodgy but so far so good it hasn't given me a lot of problems. I am also getting real food no more formula and since Mammy started me on food I have grown and put some weight on. I get so excited when I hear the blender going that is the bell to tell me its food time. Mammy uses a syringe and puts the food in to my belly with the feeding tube.
So let's see what 2016 has in store for me this year!!!!!
Sín é
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