I've waited too long and can't keep straight what has happened and what I've already blogged, so forgive me if I repeat myself.
School is going good. Even when Sam is having a really rough morning and I'm worried about her, she goes to school and comes home renewed and happy. The school has continued to be amazingly helpful and accommodating. She leaves the classroom three days a week for an hour of resource and two days a week for speech. Her teacher does an activity called "Brain Dance" which is basically lots of big movements- stretching, crouching, etc. that we all practice as babies, set to classical music. She mentioned at Sam's IEP meeting that Sam was unable to copy any of the movements and would just stand there watching the other kids. By last week Sam was walking around the house doing all these little moves she'd picked up from "Brain Dance"!
Sam hit some major gross motor milestones in October. She climbed all the way to the top of the rock climbing wall three times on her last night of class as well as began climbing sideways across a "bouldering wall". The sideways climbing is really great for brain development as it involves "crossing center". By the way, the climbing wall is REALLY high. I'm guessing 30 feet? And I'm pretty sure I wouldn't be able to climb it once, let alone three times! She also officially is able to pedal her bike all the way around our cul-de-sac and can even back pedal to break and swerve to miss her little brother walking right in front of her. I think all of this was spurred on by her daily treadmill walk/run as prescribed by NACD.
Her speech has hit the point where she has so much ability, I think she just needs more motivation and internal desire. She can pronounce all sounds of the alphabet except for "f,s,l,ch,sh,v,z". And she is imitating the number of syllables when she approximates words. In other words, instead of "baby" being "bu" it's now "bu-be". She has an approximation for "I don't know" and now understand to throw "please" onto the end of her requests.
I think all of this is a natural progression that has to be built upon over time. It is frustrating that it can't be faster, but if I keep my perspective, it is exciting that she has made so much progress in the last two months. She's walking around saying colors all day. We now know that her favorite color is NOT yellow, but is pink. And she is about 900 times more responsive in general than she was in the summer. I asked her today "are you comfortable" and thought "hmm... I don't think she'll know what I'm talking about", but she said very calmly "yeah" and didn't seem confused at all.
Her seizures are not gone. They are nearly gone now, but as soon as I think it's been three days since I've seen one, she'll have a couple. They are still very short and non-convulsive. Her diet has been tweaked quite a bit to try to balance this out. We finally found a medical formula that she will drink. Basically this formula (similar to an infant formula) consists of protein that has only the essential amino acids, meaning it is arginine free. She drinks this in a fruit smoothie three times a day and it provides 9 grams of her protein along with a good part of the fat and calories she needs. From the foods she eats, she is allowed 13 grams of protein. I did come across (finally!) an official recommendation for how much arginine she should be taking in per day. And as I suspected all along, just going low protein doesn't guarantee that her arginine intake is low. A single slice of "low-protein" cinnamon raisin bread containing only one gram of protein, actually has more than a third of her day's recommended intake of arginine. If this were her favorite food and I was giving her ten slices a day, thinking I was in her 13 gram range, we'd be in big trouble. Unfortunately I can't completely use the guideline for arginine because the arginine content isn't available on all foods. The cinnamon raisin bread got me wondering if the craisins that she had become a big fan of since the same time the seizures began were a hidden carrier of arginine, but that information isn't available anywhere! I've even contacted Ocean Spray. So, it is pretty much guess work :( but she seems better off now that she is relying on the formula for so much of her nutrition.
Another big accomplishment was that she followed a three step command in order last week. Sounds bizarre, I know, but very important in developmental milestones.
Tuesday, November 3, 2009
Friday, September 4, 2009
Multimedia message
No longer scared of camera flash and loves to say "chee". One day she will get the "s" sound ;)
What do Seizures, T&A and Kindergarten have in common?
So, it's been a crazy couple months. Strap yourself in for a long update.
In mid-July we took a road trip to Ohio to see Emee & Papa. Sam did well with the drive. She seemed a little "off", but so did her siblings. I noticed while we were there that her tonsils were big and swollen again (had originally noticed this and ENT treated with antibiotics, back in February after getting a good view into her screaming throat while holding her down for her EEG). Even after all that we've been through, I will admit to feeling a bit intimidated by the medical community. I know there's an almost "moral" debate about what to treat and what to let heal on its own, especially in the Ear, Nose, Throat regions and I knew her pediatrician would blow us off unless she had a positive strep test. Which is totally confusing because what is "tonsilitis"? Isn't it something you want to treat? If it's "not treatable by antibiotics" then why did the antibiotics work last time?? Anyways, I knew this was an issue and when we got back in town I took her in and the doc tested Ellie for strep and said he'd treat them both if Ellie's was positive (her tonsils are also huge and red and swollen and Sam did NOT want to get swabbed). The test was negative and neither were going to be treated. That was Friday. I kept thinking that MAYBE I had seen very small seizures in Sam, but wasn't sure until I saw a definite seizure Monday morning. I was so bummed. I had been excited to bid seizures farewell six months before. I visited the Pediatrician who said he suspected the swollen tonsils were a trigger (basically an infection or being deprived of sleep by poor breathing can both raise your susceptibility to seizures). The neurologist, geneticist and ENT all agreed (MIRACLE) and by Wednesday Sam was in for a T&A (tonsillectomy and adenoidectomy). Her adenoids were "very large" and her tonsils were full of gunk that literally oozed out when the doc squeezed them (uggh... Trey was disappointed that the ENT forgot to save them and show us).
So, here we are, one week till school and I'm thinking we're good, we got this taken care of, she'll be great in a couple of days... Enter two weeks of living hell. I'm sure there are worse surgeries, but this was definitely the worst I've mothered a child through so far. For ten days she was lucky if she consumed 100 calories of liquid and she held down no creatine for eleven days. Now her eating/supplementing is back to normal but she is still having occasional seizures. I can't figure out if maybe her 'bout with anorexia' used up every molecule of creatine in her brain and we're on a build-up cycle now, but this one issue is very discouraging.
Because the recovery was so long, she started kindergarten a week late. She was so excited to get ready to go the first day. She loved her little uniform. Her excitement was obvious as she put on her backpack and went to the front door as if the bus were coming (like it did for her preschool in the past). The car ride there was great, still excited... and basically when I pulled into the parking lot she started falling apart. She was pulling against me with all her strength as I drug her in. When we got in the classroom the agreement had been that I would stay with her to make her feel safe and ease her into staying three hours, but she was a wreck, crying and saying "no no no no".
They had told the other kids a little about Sam the day before and the kids were all paying close attention to the entire event. One boy at her table said "She can't talk". Another said "Yes she can, I heard her! She said "no"!" Another said "I think maybe she can't talk because she can't hear, because I couldn't hear when I was born". All super cute kids.
One of the aides was especially helpful and came out into the hall with us and asked all about Sam and how she'd adjusted to preschool before. Her son (third grade I think?) is at the same school and has autism. I was so excited to hear that because obviously she wouldn't be thinking I was crazy for mainstreaming Sam and would have some experience that would help in working with Sam. She suggested that maybe Sam would do best without me there and I agreed, so she scooped up Sam and I hid behind a car in the parking lot while my daughter cried one of her only words "mama" and I had massive anxiety attacks about everything from, will she have seizures, wet her pants, self-explode?
She has now completed two weeks of school and has made huge improvements. Her teacher is great at keeping in touch with me and it seems that nearly everyday or so brings a new idea of something we can work together on (school and home). At first it was sitting with her legs crossed at circle time. We practiced this over and over at home and now she will sit like that for stories at home, while riding in the car, etc. "Following the line" has been lots of walking around the house with all the kids singing "we're following the leader". Her teacher has been a perfect fit for Sam it seems. She is accepting and kind, but also has strict boundaries and classroom rules and from what I am hearing, Sam is learning to follow the same rules as the other kids. She isn't able to do all the same academic things, but I think it's all about baby steps. She can't write her name when she's just learning to cross her legs, etc.
The second day I took Sam in and another little girl came in dragging her mom over to me and the mom said, "She has been talking about Sam all day and said I had to come in and meet her". A little boy getting into the car next to us said to his mom excitedly "Look mom! It's Sam!" I'm not sure why these kids are so fascinated and kind, but I am hoping it lasts. Sam will be at the same small school with the same kids for 10 years- so much better for her to feel secure and confident than the local elementary school with twice as many kids. I think the social experience this is giving Samantha is critical to her development right now and it's carrying over into how she is playing with Ellie and Will. She is much more engaged with them and bored less often.
About a week after the surgery, I noticed Sam was making some new sounds. Just sounding different than before... Hard to describe. And now since she's totally recovered her speech has improved amazingly. It is so different that it's almost like she can finally hear herself for the first time and is improving with practice. Two days ago she began making the "w" sound for the first time. Today she kept trying to say "water" at the dinner table for more to drink. She has begun yelling "YEAH" as clear as any child when I ask if she wants something that she loves (candy, whatever). All around there are just a lot of improved pronunciations. In her earliest and worst days of recovery her speech was completely gone. Not a "no" or "mama" or anything for many days and I was SO depressed. It really was some of my darkest days and I really feared that she had backslid a mile and that it would be six months before she got back to where she had been. Just one more time where I needed to get kicked in the butt to remember to have faith and patience because I never will know what is around the next corner... :)
Oh, also, last horseback trip (16 days post-surgery) Sam didn't even have to be told to straighten up, she was dead center and perfectly balanced and awesome. Also, I have enrolled her again for rock climbing because I am so excited to compare her abilities now to a year ago when she was undiagnosed/untreated and having chronic seizures! Should be good!
In mid-July we took a road trip to Ohio to see Emee & Papa. Sam did well with the drive. She seemed a little "off", but so did her siblings. I noticed while we were there that her tonsils were big and swollen again (had originally noticed this and ENT treated with antibiotics, back in February after getting a good view into her screaming throat while holding her down for her EEG). Even after all that we've been through, I will admit to feeling a bit intimidated by the medical community. I know there's an almost "moral" debate about what to treat and what to let heal on its own, especially in the Ear, Nose, Throat regions and I knew her pediatrician would blow us off unless she had a positive strep test. Which is totally confusing because what is "tonsilitis"? Isn't it something you want to treat? If it's "not treatable by antibiotics" then why did the antibiotics work last time?? Anyways, I knew this was an issue and when we got back in town I took her in and the doc tested Ellie for strep and said he'd treat them both if Ellie's was positive (her tonsils are also huge and red and swollen and Sam did NOT want to get swabbed). The test was negative and neither were going to be treated. That was Friday. I kept thinking that MAYBE I had seen very small seizures in Sam, but wasn't sure until I saw a definite seizure Monday morning. I was so bummed. I had been excited to bid seizures farewell six months before. I visited the Pediatrician who said he suspected the swollen tonsils were a trigger (basically an infection or being deprived of sleep by poor breathing can both raise your susceptibility to seizures). The neurologist, geneticist and ENT all agreed (MIRACLE) and by Wednesday Sam was in for a T&A (tonsillectomy and adenoidectomy). Her adenoids were "very large" and her tonsils were full of gunk that literally oozed out when the doc squeezed them (uggh... Trey was disappointed that the ENT forgot to save them and show us).
So, here we are, one week till school and I'm thinking we're good, we got this taken care of, she'll be great in a couple of days... Enter two weeks of living hell. I'm sure there are worse surgeries, but this was definitely the worst I've mothered a child through so far. For ten days she was lucky if she consumed 100 calories of liquid and she held down no creatine for eleven days. Now her eating/supplementing is back to normal but she is still having occasional seizures. I can't figure out if maybe her 'bout with anorexia' used up every molecule of creatine in her brain and we're on a build-up cycle now, but this one issue is very discouraging.
Because the recovery was so long, she started kindergarten a week late. She was so excited to get ready to go the first day. She loved her little uniform. Her excitement was obvious as she put on her backpack and went to the front door as if the bus were coming (like it did for her preschool in the past). The car ride there was great, still excited... and basically when I pulled into the parking lot she started falling apart. She was pulling against me with all her strength as I drug her in. When we got in the classroom the agreement had been that I would stay with her to make her feel safe and ease her into staying three hours, but she was a wreck, crying and saying "no no no no".
They had told the other kids a little about Sam the day before and the kids were all paying close attention to the entire event. One boy at her table said "She can't talk". Another said "Yes she can, I heard her! She said "no"!" Another said "I think maybe she can't talk because she can't hear, because I couldn't hear when I was born". All super cute kids.
One of the aides was especially helpful and came out into the hall with us and asked all about Sam and how she'd adjusted to preschool before. Her son (third grade I think?) is at the same school and has autism. I was so excited to hear that because obviously she wouldn't be thinking I was crazy for mainstreaming Sam and would have some experience that would help in working with Sam. She suggested that maybe Sam would do best without me there and I agreed, so she scooped up Sam and I hid behind a car in the parking lot while my daughter cried one of her only words "mama" and I had massive anxiety attacks about everything from, will she have seizures, wet her pants, self-explode?
She has now completed two weeks of school and has made huge improvements. Her teacher is great at keeping in touch with me and it seems that nearly everyday or so brings a new idea of something we can work together on (school and home). At first it was sitting with her legs crossed at circle time. We practiced this over and over at home and now she will sit like that for stories at home, while riding in the car, etc. "Following the line" has been lots of walking around the house with all the kids singing "we're following the leader". Her teacher has been a perfect fit for Sam it seems. She is accepting and kind, but also has strict boundaries and classroom rules and from what I am hearing, Sam is learning to follow the same rules as the other kids. She isn't able to do all the same academic things, but I think it's all about baby steps. She can't write her name when she's just learning to cross her legs, etc.
The second day I took Sam in and another little girl came in dragging her mom over to me and the mom said, "She has been talking about Sam all day and said I had to come in and meet her". A little boy getting into the car next to us said to his mom excitedly "Look mom! It's Sam!" I'm not sure why these kids are so fascinated and kind, but I am hoping it lasts. Sam will be at the same small school with the same kids for 10 years- so much better for her to feel secure and confident than the local elementary school with twice as many kids. I think the social experience this is giving Samantha is critical to her development right now and it's carrying over into how she is playing with Ellie and Will. She is much more engaged with them and bored less often.
About a week after the surgery, I noticed Sam was making some new sounds. Just sounding different than before... Hard to describe. And now since she's totally recovered her speech has improved amazingly. It is so different that it's almost like she can finally hear herself for the first time and is improving with practice. Two days ago she began making the "w" sound for the first time. Today she kept trying to say "water" at the dinner table for more to drink. She has begun yelling "YEAH" as clear as any child when I ask if she wants something that she loves (candy, whatever). All around there are just a lot of improved pronunciations. In her earliest and worst days of recovery her speech was completely gone. Not a "no" or "mama" or anything for many days and I was SO depressed. It really was some of my darkest days and I really feared that she had backslid a mile and that it would be six months before she got back to where she had been. Just one more time where I needed to get kicked in the butt to remember to have faith and patience because I never will know what is around the next corner... :)
Oh, also, last horseback trip (16 days post-surgery) Sam didn't even have to be told to straighten up, she was dead center and perfectly balanced and awesome. Also, I have enrolled her again for rock climbing because I am so excited to compare her abilities now to a year ago when she was undiagnosed/untreated and having chronic seizures! Should be good!
Saturday, July 11, 2009
Choline
I have to share this. It's not scientifically proven yet, but whatever...
The new mom in North Carolina, whose son was wrongly diagnosed with cerebral palsy, had been giving him choline as a supplement as instructed by one of her doctors. She saw great improvements within a couple hours of his first dose. Now the doctors are wondering why choline helped a child with GAMT deficiency. One doctor at UNC wrote me back and said that "Choline metabolism is very related to the metabolism of creatine". Sam's geneticist says "it's possible it could help, but I need more data". I'm not trying to challenge anyone, but I have been working at "figuring things out" for so long, that I can't help but be curious about any leads for helping Samantha even more. A week or so ago Samantha ended the day with enough protein allowance to have an egg with her dinner. This is a total treat for her because she loves eggs and hadn't had one since February. That evening Trey and I both noticed how well she was doing with her speech and behavior (always validating for me if he notices too) and I joked that "maybe it was the egg". While researching this choline topic, I found out that eggs are an excellent source of choline. Anyone else find this interesting or am I just a crazy, desperate mom??
I will play by the books for now, but am definitely not against Sam providing the needed "data" by being a test patient if they feel it is totally safe to give her this.
Her yes and no continue to improve and just today she had some new utterances, a breathy "helmet" when she wanted to ride her bike and "stomp" while singing "if you're happy and you know it stomp your feet".
The new mom in North Carolina, whose son was wrongly diagnosed with cerebral palsy, had been giving him choline as a supplement as instructed by one of her doctors. She saw great improvements within a couple hours of his first dose. Now the doctors are wondering why choline helped a child with GAMT deficiency. One doctor at UNC wrote me back and said that "Choline metabolism is very related to the metabolism of creatine". Sam's geneticist says "it's possible it could help, but I need more data". I'm not trying to challenge anyone, but I have been working at "figuring things out" for so long, that I can't help but be curious about any leads for helping Samantha even more. A week or so ago Samantha ended the day with enough protein allowance to have an egg with her dinner. This is a total treat for her because she loves eggs and hadn't had one since February. That evening Trey and I both noticed how well she was doing with her speech and behavior (always validating for me if he notices too) and I joked that "maybe it was the egg". While researching this choline topic, I found out that eggs are an excellent source of choline. Anyone else find this interesting or am I just a crazy, desperate mom??
I will play by the books for now, but am definitely not against Sam providing the needed "data" by being a test patient if they feel it is totally safe to give her this.
Her yes and no continue to improve and just today she had some new utterances, a breathy "helmet" when she wanted to ride her bike and "stomp" while singing "if you're happy and you know it stomp your feet".
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.
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