Just in Utah, there have been three more diagnoses of GAMT since Sam's diagnosis in February of 2009. That's a lot when you factor in that Sam was estimated to be the 49th in the world at that time. I also am aware of one case in North Carolina and two in Illinois that have been discovered since then as well. One of the cases in Utah is a second cousin's child who also got lucky and while having some testing done, had a technician decide to run a spectroscopy on a hunch. That hunch saved a little boy's life.
Before PKU was "discovered" and automatically screened for at birth, all those people suffering from a fully treatable disorder were diagnosed as mentally retarded and left un-helped. The same tragedy is happening today to children born with GAMT deficiency. I feel so badly for anyone searching for answers. There are definitely more causes yet to be discovered for developmental delays, but GAMT deficiency is no longer one of them. It has been discovered and is treatable with the best results coming from early treatment. Both Duke University and the University of Utah are working on newborn screening tests that would be able to detect GAMT deficiency from the routine heel pricks babies receive in the hospital, but until then there are bound to be children slipping through the cracks and suffering the consequences for the rest of their lives. The symptoms vary so much from child to child that it's hard to say "look for this one thing".
My advice to anyone whose child is suffering from something un-diagnosed is to push for more testings of all kinds- blood, urine, DNA, MRI with spectroscopy. Don't let a pediatrician or developmental psychologist look at your child only from the outside and slap a give-up label on your child of "delayed" without looking a level deeper for answers. If a thousand children are tested and only one of them gets information that helps in their recovery, isn't it worth it? It's so intimidating to be a parent only armed with "hunches", but even doctors (and MRI technicians) rely on hunches and you know your child better than any doctor.
Just had to put that out there because I wish someone would've said it to me years ago...
Showing posts with label GAMT deficiency. Show all posts
Showing posts with label GAMT deficiency. Show all posts
Tuesday, September 14, 2010
Friday, July 3, 2009
July 3, 2009 Update
Last Monday Samantha had a clinic visit with the geneticist. Based on a blood draw in May it looks like she is getting the right amount of protein (just barely enough to be healthy, grow hair, etc). Her arginine levels (the specific amino acid we are trying to avoid) are in the bottom 25 percent for what's "normal" and that is good as well. They did another draw while we were there and that will show us (in 3-4 weeks) how her creatine levels have come up and guanidino acetate levels have gone down (hopefully). We are increasing her creatine and ornithine to 12 grams each and will see how that effects her.
We learned that the doctor expects it to be a full year until we see the "big change" in Sam and we learned a little more about her specific mutations. Her never before seen mutation (from Trey, and originally mapped on zebra fish studies) is actually a less severe mutation. It has been allowing her to break down her proteins enough to create a low level of creatine, explaining why she was diagnosed so late. Her other mutation, from me, is horrible. It is completely broken and does nothing (probably the same mutation that the kids diagnosed very young have). I have to admit it made me feel bad to hear this. It makes no sense on a rational level, but just knowing that I caused my child to have something horribly broken inside makes me feel sad. :(
So, we left that meeting with a more relaxed attitude, knowing that it's not upsetting to the doctor that Sam didn't come in singing the ABC's and that we need to not stress out over what's NOT happening and continue enjoying what is. The doctor did feel, despite Sam's typical melt down at doctors' offices, that she seemed to be doing better and several people have said the same.
On Wednesday last week we went to NACD for an evaluation. I have been struggling to know if I am doing the right things for Sam and have been pretty overwhelmed lately. I learned at the evaluation what should have been obvious, but I guess I needed some outside eyes to clue me in: I have lost control of Sam. I think to myself that I am a strict mom and that I set high expectations for her, but really I am constantly giving up when she ignores directions from me. For example, every night at dinner she will finish first and just take off. I will say "hey come back" and nothing... I will go get her and she'll whine and make everyone else's dinner miserable, so I say "clear your place and then you can leave". I felt like I was trying my best, but really, Samantha was running the show and getting what she wanted in the end.
The solution? Time-Out Boot Camp! And it's totally working. Any time she ignores me or has a melt down when she doesn't want to do what I ask, she goes to a five minute time out and at the end she's ten times more attentive and obedient. Just knowing that I mean business has really made her focus in on what I'm saying and what's going on around her in general. Don't get me wrong. She's had time outs before, but it usually wasn't until she was a total mess or did something really bad.
Horse back riding is going great. She and I went alone this week and she rode the horse alone. Eventually I didn't even have my hand at her side and when she'd shift off to one side I'd say "straighten up" and she got it. She even started bouncing up and down as the horse walked. She got to take the horse on a walk with a rope and loved that too. Soon we'll pick up the pace to a slow trot and put her in a real saddle (right now it's a blanket type saddle). She loves the whole experience and is giggling and smiling the whole time.
Her new progress is that she is pedaling a bike very well. Not necessarily all on her own uphill, but with a little pushing she is using both her feet and totally understands. She is getting stronger in her legs and I'm sure she'll be able to make it around the cul-de-sac by the end of the summer. She is also doing great answering Yes and No questions. Her no is pretty clear and her yes is "dah" but getting closer and closer to a "yeah". She will finally wear flip flops- she can tolerate them now and she can walk more than one step and they don't fall off! Ahh... the small miracles I have come to appreciate! She is also doing well with her colors and is getting more interested in numbers.
I have been in contact with another mom whose child was diagnosed with GAMT this week. They live in North Carolina and her son is 13 months old. He had been diagnosed for a long time with Cerebral Palsy, but that didn't feel right to his parents. It is frightening to think how easily this disorder is misdiagnosed. Especially considering that, if treated from birth, there should be no complications in development. I am still pursuing how I can push the issue of newborn screening for GAMT and have someone at Duke doing some checking for me to see if a test has been established at any labs that will work with the little blood spots they take from kids at the hospital (for PKU and other metabolic disorders) to check for GAMT. This mom was so hesitant to let herself be excited, but I am sure her son will have an amazing recovery based on his young age.
The first thing I can share with other parents is this blog, so I think I will try to update it more often and be more specific about what changes I am seeing. The big thing I should confess to other parents is that this is hard. I always post when things are going well and I'm feeling upbeat, but there is an equal amount of time when I feel overwhelmed, depressed, inadequate, guilty, and every other negative emotion possible. Hopefully I can look back at these hard times and feel stronger. But I can't give up. That's the one thing I know. There's no throwing my hands up in the air and then getting the best outcome for Sam. She truly has come a long way and is one of the sweetest little girls in this world.
We learned that the doctor expects it to be a full year until we see the "big change" in Sam and we learned a little more about her specific mutations. Her never before seen mutation (from Trey, and originally mapped on zebra fish studies) is actually a less severe mutation. It has been allowing her to break down her proteins enough to create a low level of creatine, explaining why she was diagnosed so late. Her other mutation, from me, is horrible. It is completely broken and does nothing (probably the same mutation that the kids diagnosed very young have). I have to admit it made me feel bad to hear this. It makes no sense on a rational level, but just knowing that I caused my child to have something horribly broken inside makes me feel sad. :(
So, we left that meeting with a more relaxed attitude, knowing that it's not upsetting to the doctor that Sam didn't come in singing the ABC's and that we need to not stress out over what's NOT happening and continue enjoying what is. The doctor did feel, despite Sam's typical melt down at doctors' offices, that she seemed to be doing better and several people have said the same.
On Wednesday last week we went to NACD for an evaluation. I have been struggling to know if I am doing the right things for Sam and have been pretty overwhelmed lately. I learned at the evaluation what should have been obvious, but I guess I needed some outside eyes to clue me in: I have lost control of Sam. I think to myself that I am a strict mom and that I set high expectations for her, but really I am constantly giving up when she ignores directions from me. For example, every night at dinner she will finish first and just take off. I will say "hey come back" and nothing... I will go get her and she'll whine and make everyone else's dinner miserable, so I say "clear your place and then you can leave". I felt like I was trying my best, but really, Samantha was running the show and getting what she wanted in the end.
The solution? Time-Out Boot Camp! And it's totally working. Any time she ignores me or has a melt down when she doesn't want to do what I ask, she goes to a five minute time out and at the end she's ten times more attentive and obedient. Just knowing that I mean business has really made her focus in on what I'm saying and what's going on around her in general. Don't get me wrong. She's had time outs before, but it usually wasn't until she was a total mess or did something really bad.
Horse back riding is going great. She and I went alone this week and she rode the horse alone. Eventually I didn't even have my hand at her side and when she'd shift off to one side I'd say "straighten up" and she got it. She even started bouncing up and down as the horse walked. She got to take the horse on a walk with a rope and loved that too. Soon we'll pick up the pace to a slow trot and put her in a real saddle (right now it's a blanket type saddle). She loves the whole experience and is giggling and smiling the whole time.
Her new progress is that she is pedaling a bike very well. Not necessarily all on her own uphill, but with a little pushing she is using both her feet and totally understands. She is getting stronger in her legs and I'm sure she'll be able to make it around the cul-de-sac by the end of the summer. She is also doing great answering Yes and No questions. Her no is pretty clear and her yes is "dah" but getting closer and closer to a "yeah". She will finally wear flip flops- she can tolerate them now and she can walk more than one step and they don't fall off! Ahh... the small miracles I have come to appreciate! She is also doing well with her colors and is getting more interested in numbers.
I have been in contact with another mom whose child was diagnosed with GAMT this week. They live in North Carolina and her son is 13 months old. He had been diagnosed for a long time with Cerebral Palsy, but that didn't feel right to his parents. It is frightening to think how easily this disorder is misdiagnosed. Especially considering that, if treated from birth, there should be no complications in development. I am still pursuing how I can push the issue of newborn screening for GAMT and have someone at Duke doing some checking for me to see if a test has been established at any labs that will work with the little blood spots they take from kids at the hospital (for PKU and other metabolic disorders) to check for GAMT. This mom was so hesitant to let herself be excited, but I am sure her son will have an amazing recovery based on his young age.
The first thing I can share with other parents is this blog, so I think I will try to update it more often and be more specific about what changes I am seeing. The big thing I should confess to other parents is that this is hard. I always post when things are going well and I'm feeling upbeat, but there is an equal amount of time when I feel overwhelmed, depressed, inadequate, guilty, and every other negative emotion possible. Hopefully I can look back at these hard times and feel stronger. But I can't give up. That's the one thing I know. There's no throwing my hands up in the air and then getting the best outcome for Sam. She truly has come a long way and is one of the sweetest little girls in this world.
Tuesday, April 28, 2009
Duke GAMT study
I just heard back (via email) from a study at Duke University. They are hoping for a grant to study kids who are diagnosed on the autism spectrum for possible CDS (creatine deficiency syndromes). There are three types, GAMT so far is the least common. I shared Sam's story and they would like urine samples, but since that was pretty traumatic last time, it might be a while until we send in one of those.
Go Duke!!!
Go Duke!!!
Monday, April 27, 2009
4/27/09 Update
Samantha had a program review last week and here are the positive changes I listed:
>started trying on my shoes
>crossed monkey bars at park with just a bit of coaching and my hands at her sides (wow!)
>running is getting smoother
>imitation of movements is better. Spontaneously started saying "bu" and making fists and trying to do "wheels on the bus" to request that I sing songs with her.
>loving hugs, tickles and raspberries as previously mentioned
>slight improvement in her ability to string together two oral directions (ie. touch the door, then turn around). She will usually just do the second command.
>started blowing into the flute in the bathtub much better than ever before (very important step in speech development!)
>better and better at church. Had a substitute last week and it went great (there are usually two teachers)
The hard stuff is that she is having more tantrums when she is frustrated and doesn't get what she wants. I think this is linked to the frustration of not being able to communicate. Another "bad" thing is that she has been a bit more "growly" in her speech, but on a positive note, for the first time ever she is actually willing to work on the quality of her speech. She will sort of growl/grunt a word and I will say no, not , but this... and she will use a softer clearer voice and try again. There have been a few words that have sort of shocked me recently. Today the girls got up before me and came in our room and I felt the covers lift off my face and heard "mom" and I thought it was Ellie because it was so clear, and it was Sam.
So, I think overall there are more positive developments going on and the negatives are necessary and we are working past them.
We met with Sam's kindergarten teacher and six other staff members to talk about next year. I think it will be a good atmosphere for her. She eats breakfast each day and then goes and dresses herself, puts on her shoes and goes to the garage door like "come on mom, let's get the heck out of here". I know some moms are so great at keeping homeschooling interesting and exciting and I might be able to if I didn't have an eighteen month old boy bringing me a toilet brush every two minutes or feeding his stuffed dog out of the dog's dish or pulling his sister's hair, etc etc. But, yeah, I'm not so entertaining I guess because my kids get bored. Especially Samantha. So, I think school will be good for her. They are concerned with the fine details of how to teach her and communicate with her, but I am having a hard time promising them how she will behave and what she will need in over three months from now. I am in "take it one day at a time mode" right now and still appreciating the seemingly tiny accomplishments like Sam trying on my shoes. I do however hope that we've taken some big steps forward by August. Her teacher had some good tips for getting Sam prepared. One was to practice treating her like she is a big girl and having her sit on the floor and listen to books rather than having her sit on our laps to prepare her for circle time at school and already she is doing great. She has zero problems understanding the process and cooperating.
One new program angle we've taken lately is videotaping ourselves doing program (camcorder on a tri-pod) and then playing THAT back as a therapeutic video. Sam and the other kids love watching it and it's a completely guilt-free TV babysitter for me in the afternoon!
I got an email last week from our genetic counselor that she had finally located another family with GAMT and here's the scoop: It's a family in California. Their son is three now. He had an MRI at ten months because he had very poor muscle tone. So much that he wasn't able to sit up in his mom's lap. The MRI showed a large "gray matter" area (meaning that it wasn't developed like normal tissue) in his basal ganglia area which is the metabolic region. He was then diagnosed as having a fatal mitochondrial disease that would eventually shut down all of his organs. After running some follow up blood/urine work they noticed that he was low in creatine and eventually they put it all together. She believes that they are the first family in the U.S. because she hasn't been able to find anyone else. He was case number 28 in the world. Two years later, Samantha is case 38. Within two months of diagnosis he was sitting up in his mom's lap and at 17 months he was running around. Now at three years he is speaking in four word sentences and his mom says that if I saw him I would have no idea that he has GAMT. Also, his basal ganglia region now looks completely normal. That is the most amazing part! Anyone who thinks the human brain isn't capable of growing and changing is crazy. It has been great to have someone to bounce things off of and compare notes with. She mentioned that they are doing bloodwork every 90 days and now our geneticist wants to do the same. Really, he's the poster child for GAMT recovery so probably any geneticist could learn something from his case. Oh, and the mom is pregnant and has had amnio and confirmed that she is having a girl with GAMT. It is expected that with the mom taking creatine orally during her pregnancy and the baby starting supplementation from birth, her development should be completely uninterrupted. How can this not be on the newborn screening??? How many undiagnosed cases are out there that are being mis-labeled as cerebral palsy or autism, etc???
Okay, update and rant complete. :)
>started trying on my shoes
>crossed monkey bars at park with just a bit of coaching and my hands at her sides (wow!)
>running is getting smoother
>imitation of movements is better. Spontaneously started saying "bu" and making fists and trying to do "wheels on the bus" to request that I sing songs with her.
>loving hugs, tickles and raspberries as previously mentioned
>slight improvement in her ability to string together two oral directions (ie. touch the door, then turn around). She will usually just do the second command.
>started blowing into the flute in the bathtub much better than ever before (very important step in speech development!)
>better and better at church. Had a substitute last week and it went great (there are usually two teachers)
The hard stuff is that she is having more tantrums when she is frustrated and doesn't get what she wants. I think this is linked to the frustration of not being able to communicate. Another "bad" thing is that she has been a bit more "growly" in her speech, but on a positive note, for the first time ever she is actually willing to work on the quality of her speech. She will sort of growl/grunt a word and I will say no, not , but this... and she will use a softer clearer voice and try again. There have been a few words that have sort of shocked me recently. Today the girls got up before me and came in our room and I felt the covers lift off my face and heard "mom" and I thought it was Ellie because it was so clear, and it was Sam.
So, I think overall there are more positive developments going on and the negatives are necessary and we are working past them.
We met with Sam's kindergarten teacher and six other staff members to talk about next year. I think it will be a good atmosphere for her. She eats breakfast each day and then goes and dresses herself, puts on her shoes and goes to the garage door like "come on mom, let's get the heck out of here". I know some moms are so great at keeping homeschooling interesting and exciting and I might be able to if I didn't have an eighteen month old boy bringing me a toilet brush every two minutes or feeding his stuffed dog out of the dog's dish or pulling his sister's hair, etc etc. But, yeah, I'm not so entertaining I guess because my kids get bored. Especially Samantha. So, I think school will be good for her. They are concerned with the fine details of how to teach her and communicate with her, but I am having a hard time promising them how she will behave and what she will need in over three months from now. I am in "take it one day at a time mode" right now and still appreciating the seemingly tiny accomplishments like Sam trying on my shoes. I do however hope that we've taken some big steps forward by August. Her teacher had some good tips for getting Sam prepared. One was to practice treating her like she is a big girl and having her sit on the floor and listen to books rather than having her sit on our laps to prepare her for circle time at school and already she is doing great. She has zero problems understanding the process and cooperating.
One new program angle we've taken lately is videotaping ourselves doing program (camcorder on a tri-pod) and then playing THAT back as a therapeutic video. Sam and the other kids love watching it and it's a completely guilt-free TV babysitter for me in the afternoon!
I got an email last week from our genetic counselor that she had finally located another family with GAMT and here's the scoop: It's a family in California. Their son is three now. He had an MRI at ten months because he had very poor muscle tone. So much that he wasn't able to sit up in his mom's lap. The MRI showed a large "gray matter" area (meaning that it wasn't developed like normal tissue) in his basal ganglia area which is the metabolic region. He was then diagnosed as having a fatal mitochondrial disease that would eventually shut down all of his organs. After running some follow up blood/urine work they noticed that he was low in creatine and eventually they put it all together. She believes that they are the first family in the U.S. because she hasn't been able to find anyone else. He was case number 28 in the world. Two years later, Samantha is case 38. Within two months of diagnosis he was sitting up in his mom's lap and at 17 months he was running around. Now at three years he is speaking in four word sentences and his mom says that if I saw him I would have no idea that he has GAMT. Also, his basal ganglia region now looks completely normal. That is the most amazing part! Anyone who thinks the human brain isn't capable of growing and changing is crazy. It has been great to have someone to bounce things off of and compare notes with. She mentioned that they are doing bloodwork every 90 days and now our geneticist wants to do the same. Really, he's the poster child for GAMT recovery so probably any geneticist could learn something from his case. Oh, and the mom is pregnant and has had amnio and confirmed that she is having a girl with GAMT. It is expected that with the mom taking creatine orally during her pregnancy and the baby starting supplementation from birth, her development should be completely uninterrupted. How can this not be on the newborn screening??? How many undiagnosed cases are out there that are being mis-labeled as cerebral palsy or autism, etc???
Okay, update and rant complete. :)
Tuesday, February 24, 2009
Geneticist Appointment
Well, we met with four adults in a tiny little exam room today for about two and a half hours. We started with a 101 course on GAMT Deficiency explaining why there's a problem and where supplementing creatine and ornithine and restricting arginine come into play.
We also talked about her diagnosis and that it's basically 100% firm, but they would still like to do a DNA test just to have the information. If any other family members suspect they are at risk or just want to know if they are carriers they could have a much more affordable test ($200-300) because the search of where to look and what to look for would be greatly narrowed down after Samantha's lengthier test ($1500). An example of who may want to know one day is Ellie when she is ready to have children.
The geneticist was an awesome Italian with a super thick accent in his 50's? and he had great things to say about Samantha. He mentioned that when we come back in four months to follow up with him, she should be talking more and doing much better. He referred to her as a "mild" case and was pretty impressed with how well she has developed inspite of the condition.
The nutritionist joined the group towards the end and felt like we were being bombarded with too much information and wouldn't be able to tackle the diet right away. She gave me some basic information (while Trey walked the halls with Samantha for ten minutes) and is going to meet with us next week to get us officially started. Samantha can have 20 grams of protein per day (that number will go up over the years as her weight goes up). I think that if she cuts out all meat and dairy that we can do this without too much difficulty (not that cutting out yogurt, milk, cheese, nuggets, etc isn't difficult!). For example: a glass of cow's milk has 8 grams of protein, but a glass of rice milk has 1 gram. So, having the right foods on hand will be key. The food group with the lowest amount of protein is fruit and luckily she loves fruit. The foods she can have with no limit are "pure fats and sugars" (yum yum!), straight sugar candy, kool aid, popsicles, etc. I'm not sure what "pure fats" are, but I think we'll stick with sugars.
We will have to petition the insurance company to help pay for her creatine and ornithine, but I went ahead and placed a mail order call on our way home to get a kilo of both headed our way. She will be on both of these for the rest of her life and she will be watching her protein intake for the rest of her life. The severity of the diet in the long run will depend on her body and how she responds to the current guidelines. She may regulate to where she can have a higher amount of protein, but will probably never be able to eat totally "carnivore" again.
I hunted down a "scientific grade" scale for measuring out her meds each day and am excited to get started in 2-3 days when the supplements arrive. We will be tracking her food for three days and shooting for about 30 grams of protein per day this week.
Ironically I received an acceptance email today for Samantha to attend a local charter school for Kindergarten in the fall. I'm not sure that she'll be up for that, but it is cool to know it's an option.
I feel like I'm in a little dream right now. I am overwhelmed and ecstatic all at once. I definitely feel like I need to pinch myself every five minutes.
We also talked about her diagnosis and that it's basically 100% firm, but they would still like to do a DNA test just to have the information. If any other family members suspect they are at risk or just want to know if they are carriers they could have a much more affordable test ($200-300) because the search of where to look and what to look for would be greatly narrowed down after Samantha's lengthier test ($1500). An example of who may want to know one day is Ellie when she is ready to have children.
The geneticist was an awesome Italian with a super thick accent in his 50's? and he had great things to say about Samantha. He mentioned that when we come back in four months to follow up with him, she should be talking more and doing much better. He referred to her as a "mild" case and was pretty impressed with how well she has developed inspite of the condition.
The nutritionist joined the group towards the end and felt like we were being bombarded with too much information and wouldn't be able to tackle the diet right away. She gave me some basic information (while Trey walked the halls with Samantha for ten minutes) and is going to meet with us next week to get us officially started. Samantha can have 20 grams of protein per day (that number will go up over the years as her weight goes up). I think that if she cuts out all meat and dairy that we can do this without too much difficulty (not that cutting out yogurt, milk, cheese, nuggets, etc isn't difficult!). For example: a glass of cow's milk has 8 grams of protein, but a glass of rice milk has 1 gram. So, having the right foods on hand will be key. The food group with the lowest amount of protein is fruit and luckily she loves fruit. The foods she can have with no limit are "pure fats and sugars" (yum yum!), straight sugar candy, kool aid, popsicles, etc. I'm not sure what "pure fats" are, but I think we'll stick with sugars.
We will have to petition the insurance company to help pay for her creatine and ornithine, but I went ahead and placed a mail order call on our way home to get a kilo of both headed our way. She will be on both of these for the rest of her life and she will be watching her protein intake for the rest of her life. The severity of the diet in the long run will depend on her body and how she responds to the current guidelines. She may regulate to where she can have a higher amount of protein, but will probably never be able to eat totally "carnivore" again.
I hunted down a "scientific grade" scale for measuring out her meds each day and am excited to get started in 2-3 days when the supplements arrive. We will be tracking her food for three days and shooting for about 30 grams of protein per day this week.
Ironically I received an acceptance email today for Samantha to attend a local charter school for Kindergarten in the fall. I'm not sure that she'll be up for that, but it is cool to know it's an option.
I feel like I'm in a little dream right now. I am overwhelmed and ecstatic all at once. I definitely feel like I need to pinch myself every five minutes.
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