 | Hi! The magnets are in!!!!!! Please help spread the word about leukodystrophy. | ||||||||
| My son has leukodystrophy. I am asking for others to help spread the word about this rare, devastating disease that affects the white matter of the brain. Little is understood about leukodystrophy and most people have never heard of it before. It has been a struggle to get the testing my baby needs because insurance doesn’t cover many genetic tests. I contacted the United Leukodystrophy Foundation with the idea of making a magnet to help spread awareness. My husband brought my designs to EVIT (a vocational high school where he works). He also held a challenge for the graphic design... read more | ||||||||
Tuesday, May 31, 2011
Magnets are in!!!!
Tuesday, May 24, 2011
Up-Lifting News:)
Some up-lifting news---Ryder has been doing awesome the past 3 days!!! He has stood up w/o support a few times and taken several steps. He has eaten Cheerios's and some meat without choking! He seems to be having a full conversation (of babbling) with us lately:) It is so odd to watch his ups and downs. I am sure glad he is having an up week though:)
I finally brought myself to watch Lorenzo's Oil. (True story of a boy with ADL). If you are interested--watch this movie. Heads up---the boy lived until he was 30 due to parents persistent fight! It is sad at times, but educational too. (To hard for me to watch movies about kids who suffer so I had to give away the ending for you!). Anyways, this movie gave me hope. I know it is right for me to go to nursing school. I think I will learn a lot to help Ryder and other kids. I also think I'll meet more doctors that can help as well! This movie is kind of like Rainman for people affected by autism. It is 1 story, but leukodystrophy has a wide array of symptoms. Each case is not the same. Ryder's leukodystrophy is not ADL and doesn't seem to be quickly progressing!
Daddy decided to give the boys a summer haircut. Ryder didn't sit still so Les ended up shaving his whole head!!! He looks sooo different! I think Les was jealous of all the hair, so he shaved all their heads to match his--hahaha!!! I gave Ryder a tattoo to match the new look:) I will attempt to add a picture:)
I finally brought myself to watch Lorenzo's Oil. (True story of a boy with ADL). If you are interested--watch this movie. Heads up---the boy lived until he was 30 due to parents persistent fight! It is sad at times, but educational too. (To hard for me to watch movies about kids who suffer so I had to give away the ending for you!). Anyways, this movie gave me hope. I know it is right for me to go to nursing school. I think I will learn a lot to help Ryder and other kids. I also think I'll meet more doctors that can help as well! This movie is kind of like Rainman for people affected by autism. It is 1 story, but leukodystrophy has a wide array of symptoms. Each case is not the same. Ryder's leukodystrophy is not ADL and doesn't seem to be quickly progressing!
Wednesday, May 18, 2011
Searching for the silver lining...
We spent the majority of the day at Ryder's neuro today----what an amazing doctor he is!!!! Before I get to the story- I really need to give props to Dr. Narayanan!!!! I have a lot of friends and family that are in the medical and educational field. As a parent, there is nothing more comforting then having a doctor/therapist/teacher who is not only smart and up-to-date with research, but also has bed side manner and shows compassion and understanding for our situation:) We haven't met many of these well rounded professionals, but we sure do appreciate them!!!
So, last info I heard was that the PMD testing came back normal. This doesn't necessarily mean he doesn't have PMD. The doctor still believes he has PM like disorder with the symptoms Ryder presents.
The past 2 weeks have been tough ones. Ryder has been falling a lot still, not wanting to use his walker, listing (leaning his head & body) to the right side and choking on liquids & foods. He was sick for a few days, but it doesn't explain the length of these bad days he has been having.
Dr. N (neuro) saw Ryder this morning for a regular follow up. First of all---Ryder has gained 2 pounds since his tubes in the last month & 1/2! He is a whopping 23lbs now:) The doctor video taped Ryder's nystagmus (eye movement) for educational purpose. It has been more noticeable lately. He also saw Ryder's tremors (spasticity). His body tone/core muscles continue to be weak. During the reflex test (where he hit his knee w/the thing-a-kabob:) Ryders opposite leg would react---so weird to watch! So when the doctor hit his right knee, Ry's left leg would react and vice-versa. The Dr. explained that newborns have this reaction, but as their mylenation develops, signals from the brain to the rest of the body mature. Due to Ryder's mylenation not developing properly, his reflex test remains that of a newborn. I really thought Ryder would be walking by now. After all of the therapy and his hard work (and my stubbornness), I believed he would walk. Now, I'm not sure if it's in the cards for him. I still have hope, but can accept if this isn't meant to be.
Dr. N asked if we would be interested in being part of a research study for white matter disorders & genetic testing. YES...YES...YES!!!!! I am excited about this study:) i called Les to come meet us at the hospital. They took Ryder, Les and my blood today to study all of the DNA & RNA. Okay---bare with me as I attempt to explain this. Ry has been going through testing tiny steps at a time to rule out specific leukodystrophies. Keep in mind, there are over 34 known to date and each type has several test themselves. So this study will eliminate the test by test that we have been doing and just lays out all of his DNA/RNA to be studied. The computer can compare about 4 million genes to rule out, while at least another 100,000 need to be reviewed by the research team for mutations, deletions, or duplications. I'm still trying to wrap my head around it all, but I hope I'm explaining it right;) Even though we are participating in this study, we most likely won't hear results for up to a year. Funds need to be raised and the treacherous process of sifting through all the genes needs to be done.
In the meantime, Dr. N referred Ryder for Children's Rehabilitation Services. His GI doctor wants to see him soon and conduct a swallow test. There is a concern that Ryder may be aspirating while drinking liquids. I had a melt down today just thinking about it. He is having a difficult time drinking or eating stuff with certain consistencies. I'm not sure if a feeding tube is in his future, but I will continue to live day by day and treasure who he is every single moment!
Most of you have heard I have been accepted into nursing school after 19months on a waiting list. I was on the waiting list before we knew about Ryder's condition. Now, I'm wondering if it is the right time. I will be consumed by school for 16 months. I quite my job to be with Ryder and be his advocate. I'm not sure if I'm ready to hand that over to someone else. Les is more than amazing with the boys, but I think it is my instinct to notice all the little things w/Ry that I have to point out to doctors, therapist and Les. What if that doesn't happen if I'm in school? Les thinks I need to go for it. At least we have support from family, but it's hard for me to let go of control I guess....
This post has gone on long enough:) Just a reminder to my AZ friends and family...Please join us this Saturday for the benefit concert in Queen Creek for a family with 2 kids affected by leukodystrophy.
Oh--1 more thing--my brother in law hooked us up with tickets this summer to Chicago!!!! Our whole family will be flying in to visit Les' sister & family in Wisconsin and then drive to Chicago to visit Auntie Cass. Les and I will attend the leukodystrophy conference, while Auntie Cassidy watches the kiddos:) We're SOOOOO happy for this opportunity!
Last thing---ULF magnets will be out very soon (within the month) so stay tune & please purchase one to spread awareness and fund research!
So, last info I heard was that the PMD testing came back normal. This doesn't necessarily mean he doesn't have PMD. The doctor still believes he has PM like disorder with the symptoms Ryder presents.
The past 2 weeks have been tough ones. Ryder has been falling a lot still, not wanting to use his walker, listing (leaning his head & body) to the right side and choking on liquids & foods. He was sick for a few days, but it doesn't explain the length of these bad days he has been having.
Dr. N (neuro) saw Ryder this morning for a regular follow up. First of all---Ryder has gained 2 pounds since his tubes in the last month & 1/2! He is a whopping 23lbs now:) The doctor video taped Ryder's nystagmus (eye movement) for educational purpose. It has been more noticeable lately. He also saw Ryder's tremors (spasticity). His body tone/core muscles continue to be weak. During the reflex test (where he hit his knee w/the thing-a-kabob:) Ryders opposite leg would react---so weird to watch! So when the doctor hit his right knee, Ry's left leg would react and vice-versa. The Dr. explained that newborns have this reaction, but as their mylenation develops, signals from the brain to the rest of the body mature. Due to Ryder's mylenation not developing properly, his reflex test remains that of a newborn. I really thought Ryder would be walking by now. After all of the therapy and his hard work (and my stubbornness), I believed he would walk. Now, I'm not sure if it's in the cards for him. I still have hope, but can accept if this isn't meant to be.
Dr. N asked if we would be interested in being part of a research study for white matter disorders & genetic testing. YES...YES...YES!!!!! I am excited about this study:) i called Les to come meet us at the hospital. They took Ryder, Les and my blood today to study all of the DNA & RNA. Okay---bare with me as I attempt to explain this. Ry has been going through testing tiny steps at a time to rule out specific leukodystrophies. Keep in mind, there are over 34 known to date and each type has several test themselves. So this study will eliminate the test by test that we have been doing and just lays out all of his DNA/RNA to be studied. The computer can compare about 4 million genes to rule out, while at least another 100,000 need to be reviewed by the research team for mutations, deletions, or duplications. I'm still trying to wrap my head around it all, but I hope I'm explaining it right;) Even though we are participating in this study, we most likely won't hear results for up to a year. Funds need to be raised and the treacherous process of sifting through all the genes needs to be done.
In the meantime, Dr. N referred Ryder for Children's Rehabilitation Services. His GI doctor wants to see him soon and conduct a swallow test. There is a concern that Ryder may be aspirating while drinking liquids. I had a melt down today just thinking about it. He is having a difficult time drinking or eating stuff with certain consistencies. I'm not sure if a feeding tube is in his future, but I will continue to live day by day and treasure who he is every single moment!
Most of you have heard I have been accepted into nursing school after 19months on a waiting list. I was on the waiting list before we knew about Ryder's condition. Now, I'm wondering if it is the right time. I will be consumed by school for 16 months. I quite my job to be with Ryder and be his advocate. I'm not sure if I'm ready to hand that over to someone else. Les is more than amazing with the boys, but I think it is my instinct to notice all the little things w/Ry that I have to point out to doctors, therapist and Les. What if that doesn't happen if I'm in school? Les thinks I need to go for it. At least we have support from family, but it's hard for me to let go of control I guess....
This post has gone on long enough:) Just a reminder to my AZ friends and family...Please join us this Saturday for the benefit concert in Queen Creek for a family with 2 kids affected by leukodystrophy.
Oh--1 more thing--my brother in law hooked us up with tickets this summer to Chicago!!!! Our whole family will be flying in to visit Les' sister & family in Wisconsin and then drive to Chicago to visit Auntie Cass. Les and I will attend the leukodystrophy conference, while Auntie Cassidy watches the kiddos:) We're SOOOOO happy for this opportunity!
Last thing---ULF magnets will be out very soon (within the month) so stay tune & please purchase one to spread awareness and fund research!
Tuesday, May 3, 2011
Latest results
The 3rd and final PMD test came back normal! On to the next leukodystrophy.....Each time I hear results I have such mixed emotions. Actually, I've been an emotional wreck the past 2 days!!! I've broke down crying during his therapy sessions. For some reason he has had a very difficult last few days. He has been unbalanced and falling a lot. His nystagmus is very apparent and his tremors where obvious. He has been choking a lot on his food as well. I think there is a place in the back of my mind watching for signs of the "regression" to start (characteristic in leukodystrophy.) It's a horrible thought and feeling to have, but when I watch him struggle so much like the past few days, I find myself wondering if this is it.
Ryder got his pediatric walker yesterday--I've never seen anything so little! I'll post a picture soon. He's doing well with it so far. He is working on how to turn with it now.
He continues to think he is 2 and give major attitude! Soooo funny (little stinker!) He is still my cuddle bug though:)
Hopefully tomorrow will be a better day and he will get his strength and steadiness back.
Ryder got his pediatric walker yesterday--I've never seen anything so little! I'll post a picture soon. He's doing well with it so far. He is working on how to turn with it now.
He continues to think he is 2 and give major attitude! Soooo funny (little stinker!) He is still my cuddle bug though:)
Hopefully tomorrow will be a better day and he will get his strength and steadiness back.
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