So after Shawn's first attempt at basketball didn't go well - I let him make the decision if he wanted to try it again on Saturday. I encouraged him all week but didn't push it on him. He made his own decision. About an hour before we were to leave for basketball he decided it "wasn't for him". I told him no problem, I'm glad you tried and we will move on to something else now. He has been playing Guitar Heroe frequently (btw - this is great hand eye coordination and good for low muscle tone)so i mentioned that maybe i should show him a few notes on my guitar. He is very excited! Tonight after he does his homework Shawn will have his first guitar lesson.
Whenever I mention sports and Ryan (my 6 year old), Shawn seems to want to do everything ryan does. I guess it is the sibling rivalry. I will let them both try almost anything that they want to, but have to be alot more careful with Shawn. Because of the Mito and low muscle tone he can get hurt real easily, emotionally as well as physically.
The other day i was talking to my 12 year old nephew who had played lacrosse and he mentioned that Ryan should try it. I let him know that I was thinking about it and all of a sudden i hear "You are going to let Ryan play lacrosse but not me". Now Shawn is very aware of his limitations and I'm sure deep down he knows that this would be real tough on him. He was saying things like I can hit the other kids with the lacross sticks and I get to push them down. So I'm wondering if there is some feelings toward other kids or if he was just trying to show off in front of his cousins and brother.
Anyways - Shawn has already done a very good job with the play and he loves the theatre and movies, he is interested in music and the guitar, so i will help him to learn these things the best I can. I think he longs to be able to play sports with the other kids because he actually likes some of the sports.
I guess we keep trying - baseball will probably be next!
If any of you have children that are in these types of situations please post your story, I would love to hear it.
Tuesday, December 15, 2009
Thursday, December 10, 2009
What is Mitochondrial Disease?
For those of you who are curious about Mitochondrial Disease I will include some info below as well as how we found out that Shawn has Mito.
Mito or Mitochondrial Disease - Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.
When Shawn was born he was a breech baby deliverd via C-section. Within the first months he had Torticollis http://en.wikipedia.org/wiki/Torticollis.
When Shawn was around 1 yr and still wasn't walking we were concerned and after numerous doctor appts. and visits from JF&CS we knew that things weren't quite normal with Shawn. http://www.jfcsboston.org/
He would do some things great at a young age like throw a wiffle ball to me, and he has always been as smart as a whip! We began to notice a lot of peculiar tendencies like favoring one side to sleep on, lining up all his toys, trouble swallowing some foods and when he got sick it seemed like forever. One thing in particular that he always seemed to do when he got excited is spin his feet and hands in circles.
So after a few tests for Autism (we were told hr could be borderline Autistic because of some of his mannerisms) and Asberger's we were just kind of lost. Eventually Shawn was diagnosed with low muscle tone. We knew there was much more to this and just kept pursuing doctors and making regular trips to the Children's Hospital .
Pediatricians, Genetecists, Neurologists, Therapists and list went on and on. Just a few months back Shawn was diagnosed with Mitochondrial Disease Complex 4.
Mitochondrial diseases with associated vision and hearing losses and descriptions
There are quite a large number of Mitochondrial diseases listed on the United Mitochondrial Disease Foundation website. Some of these have various visual conditions and hearing loss associated with them. Some of the ones listed include:
Alpers Disease
Long name: Progressive Infantile Poliodystrophy.
Symptoms: seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration.
Complex I Deficiency
Long Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency.
Symptoms: Three major forms:
1. Fatal infantile multisystem disorder, characterized by developmental delay, muscle weakness, heart disease, congenital lactic acidosis, and respiratory failure.
2. Myopathy beginning in childhood or in adult life, manifesting as exercise intolerance or weakness. Elevated lactic acid common.
3. Mitochondrial encephalomyopathy (including MELAS), which may begin in childhood or adult life and consists of variable combinations of symptoms and signs, including ophthalmoplegia, seizures, dementia, ataxia, hearing loss, pigmentary retinopathy, sensory neuropathy, and uncontrollable movements. May cause Leigh Syndrome.
Complex III Deficiency
Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.
Symptoms: Four major forms:
1. Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. Ragged-red fibers common.
2. Encephalomyopathies of later onset (childhood to adult life): various combinations of weakness, short stature, ataxia, dementia, hearing loss, sensory neuropathy, pigmentary retinopathy, and pyramidal signs. Ragged-red fibers common. Possible lactic acidosis.
3. Myopathy, with exercise intolerance evolving into fixed weakness. Ragged-red fibers common. Possible lactic acidosis.
4. Infantile histiocytoid cardiomyopathy.
Complex IV Deficiency / COX Deficiency
Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain.
Symptoms: Two major forms:
1. Encephalomyopathy: Typically normal for the first 6 to 12 months of life and then show developmental regression, ataxia, lactic acidosis, optic atrophy, ophthalmoplegia, nystagmus, dystonia, pyramidal signs, and respiratory problems. Frequent seizures. May cause Leigh Syndrome.
2. Myopathy: Two main variants:
1. Fatal infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory failure, and kidney problems.
2. Benign infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory problems, but (if the child survives) followed by spontaneous improvement.
CPEO
Long Name: Chronic Progressive External Ophthalmoplegia Syndrome.
Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system.
KSS
Long name: Kearns-Sayre Syndrome.
Symptoms: Progressive external ophthalmoplegia, pigmentary retinopathy, heart block, and high cerebrospinal protein.
LCHAD
Long name: Long-Chain Hydroxyacyl-CoA Dehydrogenase.
Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy.
LHON
Long Name: Leber Hereditary Optic Neuropathy.
Symptoms: Primarily blindness in young men. Less common symptoms: mild dementia, ataxia, spasticity, peripheral neuropathy, and heart conduction defects.
MERRF
Long Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease.
Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia.
NARP
Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa.
So this is still an ongoing journey for information. Please send me feedback and share your experiences with me. I would like to learn more about how others found out about Mito
Please share information and stories!
I wish you all good health and happiness!
Jeff
Mito or Mitochondrial Disease - Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.
When Shawn was born he was a breech baby deliverd via C-section. Within the first months he had Torticollis http://en.wikipedia.org/wiki/Torticollis.
When Shawn was around 1 yr and still wasn't walking we were concerned and after numerous doctor appts. and visits from JF&CS we knew that things weren't quite normal with Shawn. http://www.jfcsboston.org/
He would do some things great at a young age like throw a wiffle ball to me, and he has always been as smart as a whip! We began to notice a lot of peculiar tendencies like favoring one side to sleep on, lining up all his toys, trouble swallowing some foods and when he got sick it seemed like forever. One thing in particular that he always seemed to do when he got excited is spin his feet and hands in circles.
So after a few tests for Autism (we were told hr could be borderline Autistic because of some of his mannerisms) and Asberger's we were just kind of lost. Eventually Shawn was diagnosed with low muscle tone. We knew there was much more to this and just kept pursuing doctors and making regular trips to the Children's Hospital .
Pediatricians, Genetecists, Neurologists, Therapists and list went on and on. Just a few months back Shawn was diagnosed with Mitochondrial Disease Complex 4.
Mitochondrial diseases with associated vision and hearing losses and descriptions
There are quite a large number of Mitochondrial diseases listed on the United Mitochondrial Disease Foundation website. Some of these have various visual conditions and hearing loss associated with them. Some of the ones listed include:
Alpers Disease
Long name: Progressive Infantile Poliodystrophy.
Symptoms: seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration.
Complex I Deficiency
Long Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency.
Symptoms: Three major forms:
1. Fatal infantile multisystem disorder, characterized by developmental delay, muscle weakness, heart disease, congenital lactic acidosis, and respiratory failure.
2. Myopathy beginning in childhood or in adult life, manifesting as exercise intolerance or weakness. Elevated lactic acid common.
3. Mitochondrial encephalomyopathy (including MELAS), which may begin in childhood or adult life and consists of variable combinations of symptoms and signs, including ophthalmoplegia, seizures, dementia, ataxia, hearing loss, pigmentary retinopathy, sensory neuropathy, and uncontrollable movements. May cause Leigh Syndrome.
Complex III Deficiency
Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.
Symptoms: Four major forms:
1. Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. Ragged-red fibers common.
2. Encephalomyopathies of later onset (childhood to adult life): various combinations of weakness, short stature, ataxia, dementia, hearing loss, sensory neuropathy, pigmentary retinopathy, and pyramidal signs. Ragged-red fibers common. Possible lactic acidosis.
3. Myopathy, with exercise intolerance evolving into fixed weakness. Ragged-red fibers common. Possible lactic acidosis.
4. Infantile histiocytoid cardiomyopathy.
Complex IV Deficiency / COX Deficiency
Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain.
Symptoms: Two major forms:
1. Encephalomyopathy: Typically normal for the first 6 to 12 months of life and then show developmental regression, ataxia, lactic acidosis, optic atrophy, ophthalmoplegia, nystagmus, dystonia, pyramidal signs, and respiratory problems. Frequent seizures. May cause Leigh Syndrome.
2. Myopathy: Two main variants:
1. Fatal infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory failure, and kidney problems.
2. Benign infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory problems, but (if the child survives) followed by spontaneous improvement.
CPEO
Long Name: Chronic Progressive External Ophthalmoplegia Syndrome.
Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system.
KSS
Long name: Kearns-Sayre Syndrome.
Symptoms: Progressive external ophthalmoplegia, pigmentary retinopathy, heart block, and high cerebrospinal protein.
LCHAD
Long name: Long-Chain Hydroxyacyl-CoA Dehydrogenase.
Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy.
LHON
Long Name: Leber Hereditary Optic Neuropathy.
Symptoms: Primarily blindness in young men. Less common symptoms: mild dementia, ataxia, spasticity, peripheral neuropathy, and heart conduction defects.
MERRF
Long Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease.
Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia.
NARP
Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa.
So this is still an ongoing journey for information. Please send me feedback and share your experiences with me. I would like to learn more about how others found out about Mito
Please share information and stories!
I wish you all good health and happiness!
Jeff
Tuesday, December 8, 2009
Mito and Basketball for Children
My son Shawn is an 8 yr with Mitochondrial disease complex 4. He has always had low energy and low muscle tone but hasn't been fully diagnosed until recently. He just finished the play "High School Musical" as the lead Troy Bolton and did very well. I'm not sure if this confidence sparked other areas of interest or simply because Troy played Basketball that urged Shawn to sign up. So like his brother Ryan who signs up for all the sports, Shawn decided to give it a whirl. Now, knowing that my son can't even remotely keep up with the rest of the kids his age, I had serious doubts. After talking it over with my wife we decided to let him go ahead and try it. We don't want to hold him back from trying anything that he wants to do.
Saturday at 2:00 rolls around and he is excited. He has been talking about it all day. We get to the gym and there must be 100 kids in here along with their parents. So after signing in I took a seat. I look up and they are running laps to get loose. Oh boy, I think to myself knowing that he isn't going to be able to keep up. On the second lap the group is lapping Shawn. He stops by me and says "Dad I am so embarrassed", as my heart sank lower into my chest I answered with "If you need to take a rest you just go ahead". He continued the lap and stopped at the other side as the other kids finished their 2nd lap. I have never felt more embarrassed for him or more proud of him for sticking with it!
Next drill is dribbling the ball while running in and out of the cones. As i watched him do this, I thought he was doing very well and not all the kids were great at this like running laps. So after a few times through the line he came over to me with a tear in his eyes and said "I don't want to play basketball anymore". He was citing reasons like I heard the kids saying things about me, I'm not very good at this, these kids are a lot better, I'm not fast and the list went on.
I spoke to the coach of the group, which i knew because Shawn plays with his son. He was very understanding and re-assuring. He even told Shawn that he would be on his team! It didn't matter, his mind was made up. I told him i was very proud of him for trying and that if he wanted to come back next week he could.
As we left I felt mixed emotions. I was extremely proud of Shawn for trying, but I never felt so bad for him at the same time. You see, I knew going into this that he was going to struggle with keeping up with the other kids. I wasn't sure if I did the right thing as a parent. Could i have avoided all this embarrassment for him? Should i be more selective about what i let him sign up for?
I can imagine that these decisions are only going to get more difficult as he gets older.
What would you do if you were in my place? How would you handle the situation? Would you let him sign up from the beginning? Why or why not?
Saturday at 2:00 rolls around and he is excited. He has been talking about it all day. We get to the gym and there must be 100 kids in here along with their parents. So after signing in I took a seat. I look up and they are running laps to get loose. Oh boy, I think to myself knowing that he isn't going to be able to keep up. On the second lap the group is lapping Shawn. He stops by me and says "Dad I am so embarrassed", as my heart sank lower into my chest I answered with "If you need to take a rest you just go ahead". He continued the lap and stopped at the other side as the other kids finished their 2nd lap. I have never felt more embarrassed for him or more proud of him for sticking with it!
Next drill is dribbling the ball while running in and out of the cones. As i watched him do this, I thought he was doing very well and not all the kids were great at this like running laps. So after a few times through the line he came over to me with a tear in his eyes and said "I don't want to play basketball anymore". He was citing reasons like I heard the kids saying things about me, I'm not very good at this, these kids are a lot better, I'm not fast and the list went on.
I spoke to the coach of the group, which i knew because Shawn plays with his son. He was very understanding and re-assuring. He even told Shawn that he would be on his team! It didn't matter, his mind was made up. I told him i was very proud of him for trying and that if he wanted to come back next week he could.
As we left I felt mixed emotions. I was extremely proud of Shawn for trying, but I never felt so bad for him at the same time. You see, I knew going into this that he was going to struggle with keeping up with the other kids. I wasn't sure if I did the right thing as a parent. Could i have avoided all this embarrassment for him? Should i be more selective about what i let him sign up for?
I can imagine that these decisions are only going to get more difficult as he gets older.
What would you do if you were in my place? How would you handle the situation? Would you let him sign up from the beginning? Why or why not?
Subscribe to:
Posts (Atom)
