Samantha had her three month follow up on Friday with our local metabolic/genetics doctor. This is Dr. Falk, the doctor who first mentioned Leigh's disease a week or two before Sam's gene mutation was found (thus confirming the diagnosis). Dr. Wallace also sat in on the appointment (he is a top mito researcher who is now working at CHOP) so he could meet Samantha as well.
The good news is that the doctor felt in general that Sam was doing really well. Sam talked more in the appointment than last time and even took some steps for the doctor and her assistant Emily. The bad news is that Sam's weight is not going up like it should. She is still growing (height), which is good. But the doctor is concerned that if her weight continues to be stagnant, it could be a problem at some point. So, to be proactive she'd like us to be in contact with a GI again to discuss ways to help Samantha gain weight. She's a picky/small eater on a good day. Being a small eater combined with a metabolic condition (she may burn more calories than most kids despite not being very active) is a double whammy and makes for a very tiny kid. I felt like Sam was doing well with weight a couple of months ago, but she was sick a few weeks ago and prior to that just wasn't eating as much. So, she may have lost a little then. We stopped her carnitor a few weeks ago and her eating has increased some. So for now we'll keep away from the carnitor and contact a GI to see what else they may suggest.
In other medical news, my preliminary blood test has come back as negative for the mutation that Sam has. Apparently it is pretty rare for these mutations to be new and not inherited (Dr. F and Dr. W discussed that 1 out of 200 mutations they find in cases like Sam's are "new" mutations). They are going to re-run a more sensitive version of the test on my blood once my insurance approves the test. However, I wouldn't be surprised if it is new mutation in Samantha only because her condition is pretty obvious now and she is so young. And, her blood level was only 14%. I'm 38 and have never shown any symptoms. So even if I did have it, it would have to be practically non-existant as her mutation has been shown in previous studies to be pretty potent even at low mutant loads. On Thursday they also collected saliva and urine from Samantha so that they can also run tests on those tissues to see what the percentage is in them. It is assumed that Sam's brain tissue would have a higher percentage than her blood--but we aren't going to do a brain biopsy, obviously.
As a mom, I had very mixed feelings about getting tested for the mutation. The same mutation can also cause MELAS (which can present at any age). So, if I did/do have the mutation I'd be at risk for developing MELAS at some point. Also, if it "runs" in our family I'd then worry about my nieces and their future kids. As Val says, it's a good thing for me not to have it. But, part of me had come to terms with this mutation being maternally inherited. It feels weird for me to know that Samantha has something that I somehow escaped. I talked with the doctors on Friday about how these things happen and asked if it was something I did at some point to cause this. Of course I knew the answer was no, but I had to ask anyway. And yes, the answer is no. They really don't know why or how new gene mutations happen. It could be something that happened in some of my eggs (that were formed when I was formed way back 38 years ago). Or, it could be something spontaneous that happened while Samantha was being formed. They just don't know.
Speaking of not knowing....I think that will be our theme with Samantha going forward.
When you get a diagnosis like Leigh's Syndrome and then you rush to research and learn about it, you read some pretty scary statistics. As a parent, you want to try to prepare yourself for things before they happen as much as you can. But the truth is we can't prepare because we, and the doctors just don't know what is going to happen (either positive or negative). The doctors both stressed on Friday that Samantha is an individual and her condition is HER condition so we really can't and shouldn't compare her to anyone.
We'll continue to take it one day, one word, and one step at a time with our sweet little one. In addition to getting pretty good at speaking, she's also developing a quite a sense of humor. She makes us laugh daily, and that's always a good thing.
Until next time,
Monica
Sunday, January 16, 2011
Monday, December 13, 2010
Time apparently is flying by....
I can't believe almost a month has passed since my last entry. I would love to say that it is because I have been on top of preparing for Christmas and thus all of my shopping is complete. Unfortunately, this is not the case. I am in no way prepared for the holiday that is now less than two weeks away.
Things here have been moving along. We are all still adjusting to Samantha's diagnosis and new vitamin/med schedule. Some days I get so frustrated and angry about all of this. But, I know her situation could be so much worse. I have gotten to know lots of children with mitochondrial disease (through the internet and their parents' blogs), and many need very complex medical care. My mantra for us lately has been to just take it one day at a time and see where that gets us.
Sam has been a trooper for the most part and is now taking 6 out of the 7 vitamins Dr. C recommended. The last vitamin, alpha lipoic acid is going to be a bit tricky for her. As it is an actual acid, it can't be given in a liquid form because it would burn her throat on the way down. The compounding pharmacy made it into a little gummy for Sam. But, no matter how many times I try to get her to eat it, she hasn't. I tasted them and to be honest I think they also burn a little (maybe a lot). I am assuming if I ever do get her to actually chew it, she wouldn't finish it anyway. We may have to wait until she is able to swallow a small capsule for this one.
We've also been busy trying to keep Samantha in a bubble during the cold/flu season. We wipe/wash her hands (and ours) constantly. We wipe doorknobs/cellphones, groceries from the store etc. And, we've asked friends and family to let us know if anyone is sick ahead of time. It is tiring to be so vigilant all of the time, but we feel we have no choice but to continue for now. I am not naive enough to think that we can prevent Samantha from ever getting sick again. However, if we can avoid a few sicknesses along the way, I'll keep up the good fight.
A couple of days before Thanksgiving Sam had two vaccines (boosters she's already had several times before) that really threw her for a loop. She had a fever the next day, and was quite cranky for a few days. I'm still not sure if she is back to her old self yet. However, perhaps this is her "terrible twos" coming out? Really, she's not being horribly terrible. Sam is usually so, so sweet and agreeable though. For us it has been weird to hear her use the word "no" so often. And she actually gets upset now if you take something away from her that she wants. In addition to being a bit extra cranky, Sam has developed a fear of long-time toys that make noise/light up. And I mean toys that she's had (and loved) from when she was 8 months old. It isn't just that she doesn't want to play with them. She actually has a look of fear, shakes, and cries, "says, no, and mommy" and reaches out for me. I've been trying to "ease" her back in to them a couple at a time and it seems to be working. I have no idea where the fear came from but it definitely started within a couple of days of getting her vaccines. (I'm not saying the vaccine itself caused the fear, but perhaps her not feeling well, coupled by Thanksgiving at our house with lots of noisy cousins two days later did something? I really have no idea.). To be honest after her reaction to the vaccines I will forever be wary of them going forward. I will definitely bring up my concerns to her metabolic/genetic doctor during our appointment in January. Not that I think vaccines in general are bad--we've always given Sam her shots on time in the past. Given Samantha's delicate metabolic system, I wonder if it is a good thing to continue to give vaccines to her. So far her doctors have said, "Yes, she should get vaccinated". Of course, her actually getting most of the illnesses the vaccines protect her from would be worse than any reaction to the vaccine she could have--and I'm sure that influences her doctors' opinions. Until this last time, she's never really had any type of reaction to a vaccine, and she even did fine with her flu shot a month prior. Again, I'll definitely bring all of this up at her next "round" of appointments and see if her doctors have any insight.
Other than her new bit of spunk and fear of noisy toys, Sam is doing well. She is still slowly walking around the house. We don't get outside much due to the cold temps so we haven't gotten a chance to try out a new loaner walker her PT got for her to trial. She did use it once a few weeks ago (and seemed to like it) However, the next time I tried to get her out (post vaccines) and using it she refused and started to cry about it (there goes that spunk again). We'll keep trying. Her speech continues to slowly improve, which is a very good thing.
I'm sorry this entry has been a bit disjointed, but I suppose that is what happens when you wait almost a month to update.
Until next time,
Monica
Things here have been moving along. We are all still adjusting to Samantha's diagnosis and new vitamin/med schedule. Some days I get so frustrated and angry about all of this. But, I know her situation could be so much worse. I have gotten to know lots of children with mitochondrial disease (through the internet and their parents' blogs), and many need very complex medical care. My mantra for us lately has been to just take it one day at a time and see where that gets us.
Sam has been a trooper for the most part and is now taking 6 out of the 7 vitamins Dr. C recommended. The last vitamin, alpha lipoic acid is going to be a bit tricky for her. As it is an actual acid, it can't be given in a liquid form because it would burn her throat on the way down. The compounding pharmacy made it into a little gummy for Sam. But, no matter how many times I try to get her to eat it, she hasn't. I tasted them and to be honest I think they also burn a little (maybe a lot). I am assuming if I ever do get her to actually chew it, she wouldn't finish it anyway. We may have to wait until she is able to swallow a small capsule for this one.
We've also been busy trying to keep Samantha in a bubble during the cold/flu season. We wipe/wash her hands (and ours) constantly. We wipe doorknobs/cellphones, groceries from the store etc. And, we've asked friends and family to let us know if anyone is sick ahead of time. It is tiring to be so vigilant all of the time, but we feel we have no choice but to continue for now. I am not naive enough to think that we can prevent Samantha from ever getting sick again. However, if we can avoid a few sicknesses along the way, I'll keep up the good fight.
A couple of days before Thanksgiving Sam had two vaccines (boosters she's already had several times before) that really threw her for a loop. She had a fever the next day, and was quite cranky for a few days. I'm still not sure if she is back to her old self yet. However, perhaps this is her "terrible twos" coming out? Really, she's not being horribly terrible. Sam is usually so, so sweet and agreeable though. For us it has been weird to hear her use the word "no" so often. And she actually gets upset now if you take something away from her that she wants. In addition to being a bit extra cranky, Sam has developed a fear of long-time toys that make noise/light up. And I mean toys that she's had (and loved) from when she was 8 months old. It isn't just that she doesn't want to play with them. She actually has a look of fear, shakes, and cries, "says, no, and mommy" and reaches out for me. I've been trying to "ease" her back in to them a couple at a time and it seems to be working. I have no idea where the fear came from but it definitely started within a couple of days of getting her vaccines. (I'm not saying the vaccine itself caused the fear, but perhaps her not feeling well, coupled by Thanksgiving at our house with lots of noisy cousins two days later did something? I really have no idea.). To be honest after her reaction to the vaccines I will forever be wary of them going forward. I will definitely bring up my concerns to her metabolic/genetic doctor during our appointment in January. Not that I think vaccines in general are bad--we've always given Sam her shots on time in the past. Given Samantha's delicate metabolic system, I wonder if it is a good thing to continue to give vaccines to her. So far her doctors have said, "Yes, she should get vaccinated". Of course, her actually getting most of the illnesses the vaccines protect her from would be worse than any reaction to the vaccine she could have--and I'm sure that influences her doctors' opinions. Until this last time, she's never really had any type of reaction to a vaccine, and she even did fine with her flu shot a month prior. Again, I'll definitely bring all of this up at her next "round" of appointments and see if her doctors have any insight.
Other than her new bit of spunk and fear of noisy toys, Sam is doing well. She is still slowly walking around the house. We don't get outside much due to the cold temps so we haven't gotten a chance to try out a new loaner walker her PT got for her to trial. She did use it once a few weeks ago (and seemed to like it) However, the next time I tried to get her out (post vaccines) and using it she refused and started to cry about it (there goes that spunk again). We'll keep trying. Her speech continues to slowly improve, which is a very good thing.
I'm sorry this entry has been a bit disjointed, but I suppose that is what happens when you wait almost a month to update.
Until next time,
Monica
Wednesday, November 17, 2010
Fundraising, Vitamins and Percentages....
Things have been somewhat calm since our trip to Cleveland. We are still mulling over the idea of traveling to Akron, Ohio for the clinical trial. So far the doctor hasn't been able to give us too much more information. He does believe it would at least require weekly check ins for the first six weeks (complete with blood draws each week--ouch). As traveling through PA into Ohio once a week through the winter months doesn't seem like a good plan, Val and I are considering renting a place near the trial for a couple of months. We definitely would need more information about the drug/trial before we would agree to do that. In short, we still aren't sure.
Valerie and one of her brother's were able to meet with some of the board members at the UMDF last week to discuss fundraising strategies. The UMDF's board is a great group of dedicated individuals, and we hope to be able to contribute to the foundation in any and every way we can. Currently, Mitochondrial Disease has no cure. Samantha's specific diagnosis is considered terminal. While we hope each day that she proves her diagnosis wrong and grows up to live a full and healthy life, without a cure, all we can due is hope. Finding a cure takes research. And, research takes money.
Some recent statistics:
The NIH's budget is 29 billion a year. 1 billion is spent on smoking cessation. 11 million is spent on mito research. That is not enough.
Mitochondrial dysfunction is implicated in many other conditions (Alzheimer's, Diabetes, Parkinsons, just to name a few). If scientists learn more about mitochondrial dysfunction, that research would also be able to impact these other conditions in a positive way.
Valerie and I are probably not the best candidates when it comes to being fundraisers. (Val made a joke recently that she was the one who forced her parents to buy all of her chocolate bars as a kid because she didn't want to have to ask the neighbors for money.) However, we feel we have no choice but to try as best we can to raise money and public awareness for mitochondrial disease.
In other news we are still trying to gather all of the vitamins for Samantha's cocktail. We have just two more to go. We are attempting a switch to a local compounding pharmacy that takes our secondary insurance. While we love our current pharmacy, it is going to be quite costly to continue with them for the long haul. They do not take our secondary and our primary apparently doesn't consider the supplements that important and charge us the highest copay. Truthfully, I'm not sure our primary actually pays anything to the pharmacy as what we pay out of pocket is pretty high for a vitamin. If it doesn't work out with the PA pharmacy we will most likely just use the MA one as we really, really like them. Luckily, her vitamin taking has been going a little better. Apparently the third flavor of l-arginine the MA pharmacy tried (go Bubblegum!) must taste a little better as she doesn't scream and cry anymore about taking it. She still doesn't love taking most of them, but we are grateful that she's been just a little more understanding about it.
The genetic counselor called last week to discuss the percentage of mutant genes (some of Sam's copies are good, some are bad--usually the higher the percentage the worse the prognosis, in general that is). Sam's mutant load in her blood is only 14 %. The positive me is very happy to hear that number. It is a very low number. However, the realist in me lets me know that doesn't really tell us much. It is too low to be significant. Apparently, different tissues (blood, organs, muscle) can have different percentages. We have not done a muscle biopsy on Sam. And will not at this point. We certainly aren't going to do a brain biopsy. As her illness is mostly neurologically based, a brain biopsy would probably tell us the most information. Again, no one is suggesting we do anything like that. So, I'll take the 14 % and just assume that is a good number to have. I will be tested soon to see if I have the same gene mutation and they will also be able to tell what percentage I have as well
Little Samantha continues to try to walk throughout the house, which we love seeing. And, her speech has been slowly improving. We are loving every minute with Samantha as she may be, in fact, the most snuggly child to ever grace this planet. It seriously is a hug fest around here.
Until next time,
Monica
Valerie and one of her brother's were able to meet with some of the board members at the UMDF last week to discuss fundraising strategies. The UMDF's board is a great group of dedicated individuals, and we hope to be able to contribute to the foundation in any and every way we can. Currently, Mitochondrial Disease has no cure. Samantha's specific diagnosis is considered terminal. While we hope each day that she proves her diagnosis wrong and grows up to live a full and healthy life, without a cure, all we can due is hope. Finding a cure takes research. And, research takes money.
Some recent statistics:
The NIH's budget is 29 billion a year. 1 billion is spent on smoking cessation. 11 million is spent on mito research. That is not enough.
Mitochondrial dysfunction is implicated in many other conditions (Alzheimer's, Diabetes, Parkinsons, just to name a few). If scientists learn more about mitochondrial dysfunction, that research would also be able to impact these other conditions in a positive way.
Valerie and I are probably not the best candidates when it comes to being fundraisers. (Val made a joke recently that she was the one who forced her parents to buy all of her chocolate bars as a kid because she didn't want to have to ask the neighbors for money.) However, we feel we have no choice but to try as best we can to raise money and public awareness for mitochondrial disease.
In other news we are still trying to gather all of the vitamins for Samantha's cocktail. We have just two more to go. We are attempting a switch to a local compounding pharmacy that takes our secondary insurance. While we love our current pharmacy, it is going to be quite costly to continue with them for the long haul. They do not take our secondary and our primary apparently doesn't consider the supplements that important and charge us the highest copay. Truthfully, I'm not sure our primary actually pays anything to the pharmacy as what we pay out of pocket is pretty high for a vitamin. If it doesn't work out with the PA pharmacy we will most likely just use the MA one as we really, really like them. Luckily, her vitamin taking has been going a little better. Apparently the third flavor of l-arginine the MA pharmacy tried (go Bubblegum!) must taste a little better as she doesn't scream and cry anymore about taking it. She still doesn't love taking most of them, but we are grateful that she's been just a little more understanding about it.
The genetic counselor called last week to discuss the percentage of mutant genes (some of Sam's copies are good, some are bad--usually the higher the percentage the worse the prognosis, in general that is). Sam's mutant load in her blood is only 14 %. The positive me is very happy to hear that number. It is a very low number. However, the realist in me lets me know that doesn't really tell us much. It is too low to be significant. Apparently, different tissues (blood, organs, muscle) can have different percentages. We have not done a muscle biopsy on Sam. And will not at this point. We certainly aren't going to do a brain biopsy. As her illness is mostly neurologically based, a brain biopsy would probably tell us the most information. Again, no one is suggesting we do anything like that. So, I'll take the 14 % and just assume that is a good number to have. I will be tested soon to see if I have the same gene mutation and they will also be able to tell what percentage I have as well
Little Samantha continues to try to walk throughout the house, which we love seeing. And, her speech has been slowly improving. We are loving every minute with Samantha as she may be, in fact, the most snuggly child to ever grace this planet. It seriously is a hug fest around here.
Until next time,
Monica
Tuesday, November 2, 2010
Back from Cleveland....
We met with Dr. Cohen yesterday and were not disappointed. Dr. C was knowledgable, yet friendly. He did not downplay the severity of the situation but did offer us hope that we can perhaps slow down the progression of the disease.
(I apologize about the specifics below, don't feel obligated to read it all, I'm just writing it all down so that I don't forget anything!)
When we originally requested to see Dr. C we did not know about the gene mutation so thus were going there originally to ask him if he thought this was in fact, mitochondrial disease. As we did find out there was a gene mutation prior to the appointment, we used our time with Dr. C as a question/answer session on some things Val and I have been curious about regarding mitochondrial disease in general and specifically Samantha's "type".
We talked about the difference between Leigh's and "regular" mitochondrial encephalopathy and if it matters "what" we call this. He discussed the origin of Leigh's and how it was diagnosed by autopsy back in the 1950s when it was first named. Back then they did not have the technology we do now, so there was a time doctors were only guessing as to what was going on in someone's brain. Samantha's MRI fits what Leigh's seems to look like, but he admits it's a clinical diagnosis only and that yes, we can call it mitochondrial encephalopathy if we like (because that is a good descriptor of what it is as well). Regardless of what we call it, we still won't know a specific prognosis or course for Sam.
We asked him about vaccines and he does believe she should continue to get them. He didn't feel that giving her one at a time was necessary. In fact he felt that getting 2 or 3 at once would be better than one a month. He felt that three small metabolic stressors would be worse than one larger one. I thought that was interesting. Not quite sure I believe it, but he is the doctor after all ;)
Val and I discussed the supplements that Sam is currently on. He agreed they were appropriate but did want to increase them slightly as well as add a few more. Ugh. Samantha doesn't like taking some of them AT ALL. I've been working on trying to find new flavors/forms to try as we do need to get as many into her as we can. This definitely is going to be a challenge for us. I keep hoping she'll get used to them but the opposite is happening. Each week seems to get a little more challenging as she is apparently reaching her limit of things she doesn't like being squirted into her mouth.
We talked about the possibility of me actually having the mutation as well. He feels it is a very strong possibility. Although these mutations can be new, in his experience most of them are not. He wants me tested as soon as possible and feels that once we know my percentage of mutation and Samantha's percentage of mutation we may be able to predict her prognosis a little more accurately. Of course he then said, "But this as well is not a sensitive measure of future progression". I asked him if I had a mutation would there be a possibility that I too would develop symptoms at some point, and he said yes. But, obviously Val and I are not going to focus on that right now.
He talked about the avoidance of physical stress and how that will be really important going forward (fever, hunger, sleep, dehydration etc). I let him know that we've turned into germaphobes and he seemed to feel that was ok, and necessary. We asked about homeschooling in the future and he discussed that although he doesn't feel homeschooling is the right choice for most families, he does feel that with Sam's illness it would be appropriate as "as a school, you are never going to be able to enforce having parents keep their children home when they are sick". Apparently a simple virus really can be dangerous in her situation, so perhaps homeschooling will be in our future.
Finally, he did mention a clinical drug trial that he will be a part of after the first of the year for Leigh's children. He feels Samantha would be accepted into the trial based on her having a confirmed genetic mutation proving her mitochondrial disease. This drug (EPI-743, apparently a derivative of vitamin E) has been given to Leigh's children in very limited numbers in the past. However, these children were only given 1-3 months to live when they started the trial. It's hard to say what/if any negative reaction the drug would have in Sam. The biggest downside is tha we would have to travel to Ohio once a week to be part of the trial. My hope is there is some flexibility with that as I don't think that spending 15 hours a week in a carseat would be the best thing for Sam. She could barely take steps on Sunday night after spending all day sitting in the van. If she does worse after traveling each week, would we blame the new drug or the travel time/change in schedule etc? Not to mention I'd hate to have to bring her into a germ filled hospital once a week.
On the other hand, what if it worked/helped?
It is a tough decision, to be sure. Val and I are still thinking it over (and over, and over and over).
In short, we thought it was a really productive appointment and we are glad we decided to go. It never hurts to get another doctor's opinion on something so serious. Dr. C is one of, if not the leading mitochondrial specialist in the country. Both Val and I felt it was important to get to talk to him about Samantha.
Until next time,
Monica
(I apologize about the specifics below, don't feel obligated to read it all, I'm just writing it all down so that I don't forget anything!)
When we originally requested to see Dr. C we did not know about the gene mutation so thus were going there originally to ask him if he thought this was in fact, mitochondrial disease. As we did find out there was a gene mutation prior to the appointment, we used our time with Dr. C as a question/answer session on some things Val and I have been curious about regarding mitochondrial disease in general and specifically Samantha's "type".
We talked about the difference between Leigh's and "regular" mitochondrial encephalopathy and if it matters "what" we call this. He discussed the origin of Leigh's and how it was diagnosed by autopsy back in the 1950s when it was first named. Back then they did not have the technology we do now, so there was a time doctors were only guessing as to what was going on in someone's brain. Samantha's MRI fits what Leigh's seems to look like, but he admits it's a clinical diagnosis only and that yes, we can call it mitochondrial encephalopathy if we like (because that is a good descriptor of what it is as well). Regardless of what we call it, we still won't know a specific prognosis or course for Sam.
We asked him about vaccines and he does believe she should continue to get them. He didn't feel that giving her one at a time was necessary. In fact he felt that getting 2 or 3 at once would be better than one a month. He felt that three small metabolic stressors would be worse than one larger one. I thought that was interesting. Not quite sure I believe it, but he is the doctor after all ;)
Val and I discussed the supplements that Sam is currently on. He agreed they were appropriate but did want to increase them slightly as well as add a few more. Ugh. Samantha doesn't like taking some of them AT ALL. I've been working on trying to find new flavors/forms to try as we do need to get as many into her as we can. This definitely is going to be a challenge for us. I keep hoping she'll get used to them but the opposite is happening. Each week seems to get a little more challenging as she is apparently reaching her limit of things she doesn't like being squirted into her mouth.
We talked about the possibility of me actually having the mutation as well. He feels it is a very strong possibility. Although these mutations can be new, in his experience most of them are not. He wants me tested as soon as possible and feels that once we know my percentage of mutation and Samantha's percentage of mutation we may be able to predict her prognosis a little more accurately. Of course he then said, "But this as well is not a sensitive measure of future progression". I asked him if I had a mutation would there be a possibility that I too would develop symptoms at some point, and he said yes. But, obviously Val and I are not going to focus on that right now.
He talked about the avoidance of physical stress and how that will be really important going forward (fever, hunger, sleep, dehydration etc). I let him know that we've turned into germaphobes and he seemed to feel that was ok, and necessary. We asked about homeschooling in the future and he discussed that although he doesn't feel homeschooling is the right choice for most families, he does feel that with Sam's illness it would be appropriate as "as a school, you are never going to be able to enforce having parents keep their children home when they are sick". Apparently a simple virus really can be dangerous in her situation, so perhaps homeschooling will be in our future.
Finally, he did mention a clinical drug trial that he will be a part of after the first of the year for Leigh's children. He feels Samantha would be accepted into the trial based on her having a confirmed genetic mutation proving her mitochondrial disease. This drug (EPI-743, apparently a derivative of vitamin E) has been given to Leigh's children in very limited numbers in the past. However, these children were only given 1-3 months to live when they started the trial. It's hard to say what/if any negative reaction the drug would have in Sam. The biggest downside is tha we would have to travel to Ohio once a week to be part of the trial. My hope is there is some flexibility with that as I don't think that spending 15 hours a week in a carseat would be the best thing for Sam. She could barely take steps on Sunday night after spending all day sitting in the van. If she does worse after traveling each week, would we blame the new drug or the travel time/change in schedule etc? Not to mention I'd hate to have to bring her into a germ filled hospital once a week.
On the other hand, what if it worked/helped?
It is a tough decision, to be sure. Val and I are still thinking it over (and over, and over and over).
In short, we thought it was a really productive appointment and we are glad we decided to go. It never hurts to get another doctor's opinion on something so serious. Dr. C is one of, if not the leading mitochondrial specialist in the country. Both Val and I felt it was important to get to talk to him about Samantha.
Until next time,
Monica
Thursday, October 21, 2010
Some smiles on a Thursday...
Samantha has been doing great these past two weeks. She seems to be tolerating her new vitamins well (Physically speaking, she doesn't always like taking them). We have one more vitamin to add and then she'll be on all 4 that the doctor has recommended for now. She had her flu shot on Monday and seems to have not had any adverse reaction. In general, she's been her happy self.
Since we received the official diagnosis two weeks ago, Val and I have been attempting toprocess what all this means live in the moment (denial perhaps?) and just focus on the smiles and joys of each day. Truthfully I am not sure if one can ever truly "process" or come to terms with a progressive diagnosis like this for their child. It is awful to think about so why bother.
For now, we hope.
We hope that Samantha will prove the diagnosis wrong and continue to flourish as she has been.
We love.
We love Samantha with all of our might and make sure she knows it every second of every day.
We try.
We try to live each day to the fullest. We try to provide the right "environment" for Sam that will allow her the most fulfilling life she can live. We try to give as much rest, calories and liquids as her little body needs. We try to keep Sam as healthy as possible.
We learn.
We are learning as much as we can about mitochondrial disease so that we can then use that knowledge as power.
Val is actually thinking about starting a foundation of some sort to raise money for research. At the very least I'm sure we will be involved in raising money for the UMDF.
Unfortunately, not many people have heard of mitochondrial disease, let alone considered donating money to help find a cure. I've never been one to ask for money--but hey, if you are the donating kind, please do consider supporting the UMDF.
http://www.umdf.org/site/c.otJVJ7MMIqE/b.5472191/k.BDB0/Home.htm
I could probably write pages and pages of emotion right now. But, I'd rather keep this blog about hope, and happiness, and celebrating Samantha.
In that spirit, here are some pictures from this morning.....
Becoming one with nature...(the littlest branch from the tree in her hand gave her enough support to stand in the bumpy leaves)
Cheesy grin..
She loves the new van...
Getting brave without her walker outside...
We will be going to Cleveland on Nov. 1st to talk to Dr. Cohen. As we already have a firm diagnosis I am not sure what else he may be able to provide us. However, it doesn't hurt to talk to as many "experts" as we can. Soooo, as we already have the appointment scheduled (and waited months for it) we might as well keep it.
Since we received the official diagnosis two weeks ago, Val and I have been attempting to
For now, we hope.
We hope that Samantha will prove the diagnosis wrong and continue to flourish as she has been.
We love.
We love Samantha with all of our might and make sure she knows it every second of every day.
We try.
We try to live each day to the fullest. We try to provide the right "environment" for Sam that will allow her the most fulfilling life she can live. We try to give as much rest, calories and liquids as her little body needs. We try to keep Sam as healthy as possible.
We learn.
We are learning as much as we can about mitochondrial disease so that we can then use that knowledge as power.
Val is actually thinking about starting a foundation of some sort to raise money for research. At the very least I'm sure we will be involved in raising money for the UMDF.
Unfortunately, not many people have heard of mitochondrial disease, let alone considered donating money to help find a cure. I've never been one to ask for money--but hey, if you are the donating kind, please do consider supporting the UMDF.
http://www.umdf.org/site/c.otJVJ7MMIqE/b.5472191/k.BDB0/Home.htm
I could probably write pages and pages of emotion right now. But, I'd rather keep this blog about hope, and happiness, and celebrating Samantha.
In that spirit, here are some pictures from this morning.....
Becoming one with nature...(the littlest branch from the tree in her hand gave her enough support to stand in the bumpy leaves)
Cheesy grin..
She loves the new van...
Getting brave without her walker outside...
Saturday, October 9, 2010
Diagnosis confirmed
This will be a tough post to write. Though for me emotionally. And, tough because frankly I still don't feel qualified to try to explain any/all of this.
Our doctors called us this week to let us know that the mitochondrial DNA blood test came back showing a mutation in one of Sam's mitochondrialDNA (mtDNA) --it is a complex I gene that has been shown linked in previous cases as causing Leigh's Disease. Everyone inherits their mtDNA from their mother only. Therefore, "this" gene came from me and me alone. I will be tested next to see if I also have the mutation. As I am asymptomatic, if I do have the gene mutation, it is probably a smaller percentage than Samantha. Sometimes mutations are "new" so I may not have the mutation at all. In Samantha's genes, we know that there are some good and some bad copies of this gene--we just aren't sure of the percentage yet. Hopefully, we will find that out soon. However, even if we find out the percentage, it still won't give us a clear prognosis as again (sorry for repeating myself) these things can vary dramatically even when the same gene is implicated/similar percentages.
So, what does knowing this mean, or change for us right now?
The positive aspect of knowing the mutation (probably not the best word to use, but I hope you know what I mean) is that now we can stop looking. We know "what" it is. With these types of things it is really good to know the exact gene causing it in case they may have a specific treatment for it one day. Plus, knowing the mutation allows us to skip the muscle biopsy--it is no longer necessary. This is mitochondrial disease. Some parents have been on this journey way longer than we have and still do not have as definite an answer as we have right now.
The negative of knowing this is that right now, mitochondrial disease is not curable, and it is usually progressive. Leigh's Disease (a neurodegenerative form) in general, is one of the more/most severe types. To be honest, I'm not really comfortable even calling it "Leigh's" at this point in time. Perhaps I am in denial, but right now I am preferring to call it mitochondrial disease--Complex I.
Samantha continues to do well, all things considered. Still laughing, and smiling. She is still making progress in her speech and motor skills--albeit very slowly. We've recently started her on the beginnings of her vitamin cocktail. I've decided to add one at a time to ensure we catch any negative or positive reactions.
Going forward we must continue to keep Samantha hydrated, well rested and avoid sickness at all costs. Many children with mitochondrial disease have had serious implications from a simple virus.
For friends and family reading this, please, please make us aware of any sicknesses you may have before visiting with us. Not that we want folks to cancel their plans--but it would helps us to know ahead of time so that we can decide if Samantha should stay at home to avoid picking up a sickness.
As it stands, she is just getting over another cold--so we know it is impossible to avoid getting sick. However, we want to do what we can as parents (this disease doesn't give us many opportunities to "help"--so if we can keep her healthy--it makes us feel like we are doing "something").
Val and I continue to try as much as we can to focus on today and enjoy every minute that we have with each other and with Samantha. Of course we all know that we should do this everyday, but situations like ours really, really bring the point home. No one is promised a tomorrow, so enjoy today as much as you possibly can.
Our doctors called us this week to let us know that the mitochondrial DNA blood test came back showing a mutation in one of Sam's mitochondrialDNA (mtDNA) --it is a complex I gene that has been shown linked in previous cases as causing Leigh's Disease. Everyone inherits their mtDNA from their mother only. Therefore, "this" gene came from me and me alone. I will be tested next to see if I also have the mutation. As I am asymptomatic, if I do have the gene mutation, it is probably a smaller percentage than Samantha. Sometimes mutations are "new" so I may not have the mutation at all. In Samantha's genes, we know that there are some good and some bad copies of this gene--we just aren't sure of the percentage yet. Hopefully, we will find that out soon. However, even if we find out the percentage, it still won't give us a clear prognosis as again (sorry for repeating myself) these things can vary dramatically even when the same gene is implicated/similar percentages.
So, what does knowing this mean, or change for us right now?
The positive aspect of knowing the mutation (probably not the best word to use, but I hope you know what I mean) is that now we can stop looking. We know "what" it is. With these types of things it is really good to know the exact gene causing it in case they may have a specific treatment for it one day. Plus, knowing the mutation allows us to skip the muscle biopsy--it is no longer necessary. This is mitochondrial disease. Some parents have been on this journey way longer than we have and still do not have as definite an answer as we have right now.
The negative of knowing this is that right now, mitochondrial disease is not curable, and it is usually progressive. Leigh's Disease (a neurodegenerative form) in general, is one of the more/most severe types. To be honest, I'm not really comfortable even calling it "Leigh's" at this point in time. Perhaps I am in denial, but right now I am preferring to call it mitochondrial disease--Complex I.
Samantha continues to do well, all things considered. Still laughing, and smiling. She is still making progress in her speech and motor skills--albeit very slowly. We've recently started her on the beginnings of her vitamin cocktail. I've decided to add one at a time to ensure we catch any negative or positive reactions.
Going forward we must continue to keep Samantha hydrated, well rested and avoid sickness at all costs. Many children with mitochondrial disease have had serious implications from a simple virus.
For friends and family reading this, please, please make us aware of any sicknesses you may have before visiting with us. Not that we want folks to cancel their plans--but it would helps us to know ahead of time so that we can decide if Samantha should stay at home to avoid picking up a sickness.
As it stands, she is just getting over another cold--so we know it is impossible to avoid getting sick. However, we want to do what we can as parents (this disease doesn't give us many opportunities to "help"--so if we can keep her healthy--it makes us feel like we are doing "something").
Val and I continue to try as much as we can to focus on today and enjoy every minute that we have with each other and with Samantha. Of course we all know that we should do this everyday, but situations like ours really, really bring the point home. No one is promised a tomorrow, so enjoy today as much as you possibly can.
Saturday, October 2, 2010
Metabolic appointment came earlier than expected...
Samantha wasn't supposed to see Dr. Falk at CHOP until October 22nd. However, they had a cancellation this week so she actually was seen this past Tuesday.
Dr. Falk and her assistant Emily were great. They were wonderful with Samantha who warmed to them immediately (very hard to do nowadays if you are a doctor). They spent over 2 hours with us, gathering information and then providing their opinion to us. It was a very informative appointment. Dr. Falk seems very knowledgeable in regards to mitochondrial disease. If you google her you'll find that she's done research, written articles, and spoken at the national mito conference. We were looking forward to speaking to her about Samantha and came to the appointment armed with a list of questions. We were not disappointed.
To sum it up, Dr. Falk feels that this is definitely mitochondrial in nature. In fact, she thinks it is "Leigh's Disease"(one of the the few "named" mito disorders). Before our friends and family race to google "Leigh's Disease", I must warn you, the general information regarding Leigh's on the Internet is very, very scary. Horrifically scary, in fact.
However, Dr. Falk feels we should not be "doom and gloom" regarding Samantha as, in general, Samantha is doing quite well considering the severity of her underlying issues. For Val and I, we aren't really sure we need to call it "Leigh's" as that doesn't really tell us anything right now in terms of Samantha's future/prognosis. According to the Doctor (and all of the doctors we've spoken with so far), the only way to know for sure how Samantha will do going forward is to see how she does going forward. There is no set course or prognosis with these things. In general, they do tend to get worse and be "progressive" and horrible. However, there are many examples of children not following a set pattern and who wind up doing better than anyone would have guessed. Therefore we will continue to take one day at a time and enjoy every moment with our sweet girl.
In addition to discussing her opinions on what Sam's diagnosis is, Dr. Falk gave us some suggestions on supplements/vitamins to start for Samantha. A vitamin cocktail is the only widely accepted treatment available right now for children with mitochondrial disorders. Some parents do notice a difference once their children start taking the vitamins. Other parents don't notice a huge difference but keep the kids on the supplements in a "can't hurt, might help" type of way.
Dr. F is also going to provide us with an ER letter for the future. In the event that Sam needs to go to the ER for an emergency, this letter will alert the staff on how best to treat her. She ran a slew of blood tests on Samantha that day (poor baby got another stick). If the tests do not pinpoint the "cause" of the mitochondrial disorder, Dr. Falk would like us to get a muscle biopsy. However, we'll also talk to Dr. Cohen in Cleveland about that as well. We are still undecided as to if we want to do the biopsy. Unfortunately, the biopsy results will not offer us a "cure" or help Samantha much in the immediate future. However, in these situations, the more knowledge we have, the better. In the event that there is a specific treatment or trial that becomes available, we may need to know the specific information a biopsy would provide in order to know if the treatment would be appropriate for Samantha. More information may also give us a clue as to a more specific prognosis for Samantha. Unfortunately, there is no guarantee a biopsy would actually give us more information--so it a tough decision to make.
Dr. F would like to follow Samantha, and we are happy about that. We really liked her and hope that she'll be a part of Samantha's team for the long haul. Definitely a tough, but necessary appointment. I'll be very curious to see if anything "turns up" regarding the blood tests.
In other news, Samantha is sick again with a cold this week. It is not as bad as last month. However, her choking has increased again. We try so hard to avoid sickness. We are not certain if the progression in her brain lesions were caused by a sickness (I suspect that this "thing" can progress without reason or sickness). However, it is documented that many, many children with mitochondrial disorders do regress/get worse with sickness. A simple viral infection can cause havoc in a child with mitochondrial disease. So as much as we can, we have to avoid Sam getting sick. As she's a kid, and a thumbsucker, this is a tough task. We try hard to keep her hands clean. Hand wipes and sanitizer abound at our house. One of Sam's favorite activities is standing on her stool to get her hands washed at the sink. Yes, she toddles over to the sink, climbs aboard and says, "Hans" with a big cheeky grin on her face. Apparently, our heroic efforts at hand sanitizing are continuing to fall short as she is sick again. Perhaps we should just put her in a bubble? It's a tough balance of keeping her germ free while letting her actually have a life.
Until next time,
Monica
Dr. Falk and her assistant Emily were great. They were wonderful with Samantha who warmed to them immediately (very hard to do nowadays if you are a doctor). They spent over 2 hours with us, gathering information and then providing their opinion to us. It was a very informative appointment. Dr. Falk seems very knowledgeable in regards to mitochondrial disease. If you google her you'll find that she's done research, written articles, and spoken at the national mito conference. We were looking forward to speaking to her about Samantha and came to the appointment armed with a list of questions. We were not disappointed.
To sum it up, Dr. Falk feels that this is definitely mitochondrial in nature. In fact, she thinks it is "Leigh's Disease"(one of the the few "named" mito disorders). Before our friends and family race to google "Leigh's Disease", I must warn you, the general information regarding Leigh's on the Internet is very, very scary. Horrifically scary, in fact.
However, Dr. Falk feels we should not be "doom and gloom" regarding Samantha as, in general, Samantha is doing quite well considering the severity of her underlying issues. For Val and I, we aren't really sure we need to call it "Leigh's" as that doesn't really tell us anything right now in terms of Samantha's future/prognosis. According to the Doctor (and all of the doctors we've spoken with so far), the only way to know for sure how Samantha will do going forward is to see how she does going forward. There is no set course or prognosis with these things. In general, they do tend to get worse and be "progressive" and horrible. However, there are many examples of children not following a set pattern and who wind up doing better than anyone would have guessed. Therefore we will continue to take one day at a time and enjoy every moment with our sweet girl.
In addition to discussing her opinions on what Sam's diagnosis is, Dr. Falk gave us some suggestions on supplements/vitamins to start for Samantha. A vitamin cocktail is the only widely accepted treatment available right now for children with mitochondrial disorders. Some parents do notice a difference once their children start taking the vitamins. Other parents don't notice a huge difference but keep the kids on the supplements in a "can't hurt, might help" type of way.
Dr. F is also going to provide us with an ER letter for the future. In the event that Sam needs to go to the ER for an emergency, this letter will alert the staff on how best to treat her. She ran a slew of blood tests on Samantha that day (poor baby got another stick). If the tests do not pinpoint the "cause" of the mitochondrial disorder, Dr. Falk would like us to get a muscle biopsy. However, we'll also talk to Dr. Cohen in Cleveland about that as well. We are still undecided as to if we want to do the biopsy. Unfortunately, the biopsy results will not offer us a "cure" or help Samantha much in the immediate future. However, in these situations, the more knowledge we have, the better. In the event that there is a specific treatment or trial that becomes available, we may need to know the specific information a biopsy would provide in order to know if the treatment would be appropriate for Samantha. More information may also give us a clue as to a more specific prognosis for Samantha. Unfortunately, there is no guarantee a biopsy would actually give us more information--so it a tough decision to make.
Dr. F would like to follow Samantha, and we are happy about that. We really liked her and hope that she'll be a part of Samantha's team for the long haul. Definitely a tough, but necessary appointment. I'll be very curious to see if anything "turns up" regarding the blood tests.
In other news, Samantha is sick again with a cold this week. It is not as bad as last month. However, her choking has increased again. We try so hard to avoid sickness. We are not certain if the progression in her brain lesions were caused by a sickness (I suspect that this "thing" can progress without reason or sickness). However, it is documented that many, many children with mitochondrial disorders do regress/get worse with sickness. A simple viral infection can cause havoc in a child with mitochondrial disease. So as much as we can, we have to avoid Sam getting sick. As she's a kid, and a thumbsucker, this is a tough task. We try hard to keep her hands clean. Hand wipes and sanitizer abound at our house. One of Sam's favorite activities is standing on her stool to get her hands washed at the sink. Yes, she toddles over to the sink, climbs aboard and says, "Hans" with a big cheeky grin on her face. Apparently, our heroic efforts at hand sanitizing are continuing to fall short as she is sick again. Perhaps we should just put her in a bubble? It's a tough balance of keeping her germ free while letting her actually have a life.
Until next time,
Monica
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