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

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





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

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.

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 process 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)


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Cheesy grin..

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She loves the new van...

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Getting brave without her walker outside...

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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.

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

Thursday, September 23, 2010

Update on the last couple of weeks, appointments etc...

Samantha has been feeling better in general since her sickness a few weeks ago. It did take at least a couple of weeks for her swallowing issues to go back to baseline.  We had a neuro appointment at CHOP with a young neurologist there a little over two weeks ago. She was very nice and in general just talked with us about our questions regarding mitochondrial disorders.  She didn't necessarily answer all of our questions--but it seems that in the mito world, there are a lot of unknowns in terms of the future. We did draw for 4 genetic tests that day. Hopefully, the results will show "something" so that we won't have to proceed with a muscle biopsy. It was her belief that if the genetic tests did not show anything the next logical step would be the muscle biopsy. When we discussed that we would be going to see Dr. Cohen in November and wanted his input before proceeding, she felt pretty strongly that he would also agree that a muscle biopsy would be the next step.

Val and I aren't 100% sure yet that we are comfortable with doing the biopsy, and we look forward to asking a lot of questions in November at the Cleveland Clinic.

Speaking of Cleveland, our insurance approved going out of network for an office visit. I was prepared for a bit of a back and forth. However, after reading the letter of medical necessity our neurologist (also signed off on by her pediatrician) wrote, the medical director at the insurance co approved it.  Thank goodness for small miracles.  In addition to the Dr. Cohen appointment, we also have an appointment in late October with a doctor in CHOPs metabolic team.

On the recommendation of the new neurologist, Samantha had an evaluation at CHOP's feeding/swallowing clinic to discuss her swallowing issues yesterday. As Samantha seems well right now, they didn't feel a swallow study would be helpful. Val and I assume she'll need one at some point, so why radiate her more than once just to show she's swallowing ok right now?  They also gave us some suggestions for thickening her liquids if necessary if she gets sick again.  The MD of the team did discuss that Sam's hiccups (she hiccups often) may be a sign of reflux so recommended she start on a reflux medication. He doesn't feel reflux would be the only reason she would be choking on liquids (given her other issues). However, he felt it might be contributing and feels it may be worth a shot. He also felt that as she's not regular  she should begin a Miralax type drug to help her go more frequently. As the appointment was yesterday, Val and I are still processing on the medication issue right now.  We tend to be very cautious with giving meds in general.  So we aren't sure we are ready to start two new meds for issues that may or may not be contributing to anything "serious".  It was a surprising turn of events during the eval, as we assumed we would be discussing only the swallowing issue.  I suppose it's a good thing that the "team" likes to evaluate "the whole child".

As for Samantha, the little lady is doing very well. Unfortunately she's developing a fear of medical settings, but we are trying our best to keep that at a minimum.  Other than not liking doctors' appointments, she's been her happy, sweet self.  We are very happy about that.

Saturday, September 4, 2010

Our poor girl has been sick....

Samantha has been sick for about a week now.  It all started with a fever last Saturday. By Sunday, the Tylenol was not working and only 2 1/2 hours after her last dose she had a fever of over 103. In addition, she was choking each time she tried to drink anything so had started to refuse to drink anything at all. As Val and I know that dehydration is a big concern for kids with metabolic conditions (as in could cause serious consequences), we called her pediatrician's office. The on call doctor agreed that an ER trip would not be a bad idea.

So on Sunday we had our first ever (and I hope last) ER visit. CHOP's ER was nice enough. No real wait to speak of.  Once we were "checked in" we had our own little mini-room, complete with TV/DVD player.  I didn't feel the nurse or the ER doc understood very much about metabolic/mitochondrial issues, but I assume that is common in the medical world. In addition, Samantha is a "hard" stick. So the ER nurse tried three times to get an IV in her and failed each time.  The entire time she was trying, there were three of us (yes, me included) trying to hold still and soothe our hysterical toddler.  Eventually, the IV team was called, and the woman did a great job. However, Sam was still very upset to be held down yet again. After that she was afraid of the bed and thus would cry each time we sat or laid her down in it.  Poor kid.

After her IV fluids were pumped we were allowed to go home as the few tests they ran came back negative (with the exception of her being dehydrated when we got there).  They assumed she had some sort of viral infection.  Since then Samantha has been drinking more, although not as much as I would like. However, she's also been choking more than usual on fluids, which has been scary for us. She has even been choking in her sleep.  We hope this is just a symptom of her sickness this week, and not her new normal.  We suspect a swallow study will be coming up soon.

Val and I try so hard to avoid sickness for Sam as it can be so scary for kids with her issues.  I know that getting sick is inevitable for kids. However, I think going forward the new rule in our house will be that everyone needs to use hand sanitizer when they come to visit us.  It might not help, but it certainly couldn't hurt.  So, if you happen to visit us, please don't be offended by the hand sanitizer sitting out just waiting for you to use it.  It's not you, it's us ;)

As for doctor updates....

Her neurologist is frustrated by the fact that we can't get in to see metabolics until late October. So, he's set up an appointment with another doctor in his unit for this upcoming Tuesday. I believe she is still in training but he promises she knows a lot about mitochondrial disorders and may be of some help to us.  In addition, the neuro thinks she can help us get the genetic tests redone before our late October appointment.  That means poor Samantha will need to be stuck again in the near future.   I suppose it has to be done, but I know she is not going to like it.  Neither will I.

Until next time,

Monica

Tuesday, August 24, 2010

Unlike her medical appointments, she is picking up the pace!

After five weeks of waiting to be "squeezed in" for an appointment in CHOPs metabolic unit, it turns out our appointment will not be until October 22.  I'm not happy about that at all, but for now it is what it is.  Right now is it scheduled with a doctor I wanted to see, so that is a good thing. Hopefully, we'll talk with someone before then to see about getting the genetic tests redone (If we need to, that is.)  So at the very least the tests will be taken care of before the actual appointment.

In the meantime, Samantha's been taking to walking a lot around the house this past week. And, when motivated, she's really picking up speed.

Here are a couple of clips of our speedy girl.

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Saturday, August 21, 2010

The wheels of medicine turn slowly...

In the past week there have been some minor shifts in the land of appointmentville, but it seems nothing is definite.

So far we know that for now Samantha has an appointment set up with Dr. C in Cleveland in early November for a consult. This may or may not be moved forward.  My guess is it won't be.  My hope is that they won't push it back even further for some unknown reason. Dr. C, due to his expertise, is a very, very busy man who apparently gets pulled in a lot of directions.  We (and her local medical team) will also need to work hard to ensure our insurance company agrees that seeing a doctor out of state is necessary.  Regardless of insurance coverage, we are going to Cleveland.  Hopefully they will agree to cover it since we pay them so much money each month.

Dr. Falk of the metabolic team at CHOP was on vacation this past week. However, her assistant should be calling us this week to schedule something soon rather than waiting until the currently first available appointment in the unit, which is late October. We are excited to have Dr. F (if that doesn't change and we actually get to see HER) as we have heard good things about her, and she seems to be someone who has a lot of experience with mito.  

One unfortunate thing we learned this week was that the genetic tests I had previously posted about and had been so happy to have gotten out of the way back during our inpatient stay last month........  

....apparently they may not have been done after all and we may have to "redraw" for them. 
It's a simple blood test.  Not a big deal at all in terms of testing.  However, I was really anxious to get those results.  The results of those tests may give us answers that would be really useful to us now, and would help decide if a biopsy is necessary.  Hopefully, we can find out soon if they were done or not, and also find out when we can get them done again if necessary.

And now for a vent....you have been warned.

In the last week, I've made many phone calls, been on hold many times, and in general have talked to lots of folks who may or may not want to talk to me about my daughter and her medical needs.

As a woman who was required to talk on the phone A LOT as part of an underpaid full-time job, I can understand why someone may not always feel up to the task. (That being said, my hope is that I did not sound even as remotely annoyed as some of the people I talk to in the medical world. )

I'm sure there are many reasons why someone may seem cranky on the phone. Perhaps they are....

Overworked.
Underpaid.
Having a personal crisis I know nothing about (a death of a loved one, divorce, medical condition of their own or their child?).
Flustered because the last few parents they've spoken with have been downright mean to them.


I get it. We are all human. And, we all have bad days.  But, if you are someone who happens to have the unfortunate task of talking to a nice parent whose child has a progressive neurological condition, please be nice back.  It doesn't cost you a thing, and may actually make my day.

Frankly, I'd rather be doing anything else than making calls like that.  I hate making those calls.  But, it needs to be done. And, I am one of the polite parents who says please, and thank you.  I even understand that it may not be your fault that I have to wait 15 minutes on hold several times a day.  I promise I won't hold it against you.

Thankfully, there are some nice people left in the world. And, a few of them actually work in medical offices.  When I get a "nice" person on the phone, I am beyond thrilled. And, even if they don't or can't give me the answer I need or want, it just makes the interaction that much better.  I cherish those moments more than I probably should.

So, to all of you who have been so kind to me--thank you from the bottom of my heart.  I'll continue to thank you on the phone too.  If you have a survey, I'll be glad to take it.

Silly vent out of the way...

Samantha continues to do so well, all things considered. She had a great night of walking/taking steps in the house the other night. She seems to still really like her brief outings in her walker outside. Our hope is that the time upright in the walker adds to her strength and stability in general.   Sammy is as smiley, snuggly and sweet as ever.  I hope you don't get sick of reading this (or if you talk to me regularly, me saying it), but we are so lucky to have such a great kid. Seriously folks, her smile lights up the room, and our hearts. She is nothing short of amazing.  I can only hope to do right by her.

We are hoping for a good stretch of cool weather soon. When it gets above 80 degrees I don't like to take her outside too much.  Usually her outside "walks" are done just before the sun sets.  My vigilance seems to be working as her eyes don't look as "droopy" as they did a couple of months ago--pre hospital stay.  Luckily for us, Samantha is pretty easy going and is happy to be indoors and playing or watching Sesame Street.  My guess is she doesn't like to be out in the hot weather anyway.  Frankly, neither do I.

Until next time,

Monica

Saturday, August 14, 2010

Saturday morning run...and a video montage

For the first time in a very long while, I took Samantha out for a run this morning in the jogging stroller. We went to a local park that is only a five minute drive from our house.  The park has a mile loop which is hilly and mostly gravel, although it does have some forgiving sections of brick to break up the gravel. The last time I did anything this ridiculous was when our baby was much lighter (perhaps a year and a half ago now??)--and I was a few pounds lighter myself.  Oh how I miss the days of breastfeeding when I could eat whatever I wanted and still felt lean and mean.....

Sam seemed to have a great time. She was dancing around in the stroller, saying "Hi" to everyone we passed, and she was keeping her sunglasses on to look "cool"...because she rolls like that.

But....

Holy moly that was harder than I thought it would be. Quite humbling, to say the least.

Usually, I run on the treadmill at home while Sam watches Sesame Street. It is a little different to run outside in the sun, on gravel, uphill, and pushing a stroller with a toddler in it. I was heaving like crazy but did manage 3 whole miles despite the pain. Originally planning on doing more miles, I used the excuse of "I've got to get her out of the heat...it's getting too hot". Truthfully she was fine (although it's tough to gage how hot it is when you are sweating bullets and running...so at the time I was almost concerned about her heat intolerance). The reality was that sweat was burning my eyes, and my lungs were about to explode.

When it starts to get cooler I will have to try again sometime soon, since she enjoyed the ride so much.

Just for fun this beautiful Saturday, I'll share a video montage I made a couple of weeks ago of Samantha's early days. I THINK the last clip was when she was almost 2..but then the song was over so I didn't add any more clips. The song in the background is one that Val has been singing to her forever. The video is almost 4 minutes long. So, since she's not your kid I'll understand if you don't want to watch the whole thing. ;)




video

Wednesday, August 11, 2010

Interesting things that happened today that were positive...

This isn't a "real" medical update for Samantha (not all posts will be), but we did have some "positive" things happen today.

1. We had her 3 month review/check in of Early Intervention Services and it was decided (with a little nudging on my part) that in September her Speech (ST) and Occupational therapies (OT) will increase to once per week (rather than once every other week). Physical Therapy (PT) will remain the same at once per week. I think that going forward rather than putting so much focus on the PT, we will try to even things out a bit. If our little one has a limited amount of energy--no need to keep pushing her to walk back and forth across the house so much. Instead, I will torture her with crayons and puzzles!!!

2. I called her neuro Dr. B this morning to get an update on the Dr. C referral and he called me back. Yes, a doctor actually called me back. Not once, but twice--in the same day (we missed the first call)!! I believe this is a pediatric doctor miracle, but I am not certain. Unfortunately, our doctor hasn't heard back from Dr. C's office yet but will keep trying. In the meantime, we will probably be seen by CHOPs metabolic team in order to at least get started on a plan going forward. We hope to hear from metabolics soon to set up that appointment. In talking with Dr. B today I discovered that most of, if not all of the genetic tests they can do for something like this already happened at the hospital. Not all of the results are back yet--but it is good to know those tests are out of the way, so to speak. The way it was described to me in the past is that if they can find something in the genetic tests that may be a way to avoid the muscle biopsy. The muscle biopsy is not as "scary" to me as it once was (6 months ago I was against even getting an MRI with sedation--my how things have changed)--but it is still a medical procedure (complete with cutting and more sedation). So if we can avoid it, I would prefer not to do it. That being said, my guess is we'll probably have to do it at some point.

3. As already reported on Facebook earlier today, I created the "Dog Burger" for dinner. That's what happens when you want to make hamburgers but only have hot dog buns in the house. Make the burger to fit the bun you have. Samantha didn't care for the actual burger so much (she is hit or miss with meats in general), but she did like the cheese and the bun. So, 2 out of 3 ain't bad.


4. I discovered that Samantha likes Simon and Garfunkel as much as I do. The true confession is that Samantha likes any music that causes mommy to act a fool. Tonight was just the first time I played Simon and Garfunkel. As long as I am dancing around and singing my heart out, she is very appreciative and also tries to sing right along with me. Unfortunately, she's inherited my voice (or lack thereof). I know I can't sing (at all, it's sad), but I will always have an audience with this kid. I waited 36 years for someone to appreciate my hidden talent, so I sing to her every day. Multiple times a day. No one has called the cops yet. The stand out favorite tonight was "Bridge over Troubled Water". Interestingly, it is one of my favorites as well.

I took some video today of Samantha. The hat she is wearing is a hat my mom bought for her months ago--for Easter. She doesn't always want to wear hats in general--but whenever she puts this one on, it stays on. She loves this hat. It is her "play" hat. Her "goto" hat, really. It is the only hat she likes to wear---and it has a nice purse that goes with it. (Unfortunately, not in today's video.)

The clips are all joined together but it is three separate mini clips. She is using her walker in the first few seconds. In the 2nd clip I took it without her knowing as it was "unsolicited walking", which is becoming more common now that I've stopped most of the "solicited" walking. I just happened to notice her walking so grabbed the camera again--and that is what I got. It actually includes a turn, which is a big deal for her. The third mini clip is just her being cute at her play kitchen.



video

Saturday, August 7, 2010

Summary of how we got to where we are now..









Samantha is now almost 27 months old. With the exception of being slow to meet her early milestones, we had no real reason to believe anything too serious was going on with our little girl. That is, until it came time for her to try to walk. When Samantha still was not close to walking at almost 18 months, we finally contacted early intervention to have her evaluated. The Physical Therapist who came out to do the evaluation diagnosed her with low muscle tone. Since that original evaluation, we have been doing PT with Sam. (We have also added speech and occupational therapy more recently.)

As parents, we never really thought the low tone diagnosis was accurate. Samantha always seemed strong to us, she just had no balance to speak of. Sam has such a strong grasp that my father calls her "Sammy the grip" to this day.  In addition, we began to notice that Samantha was shaky in general, and preferred her left side. Sam started taking some steps with the help of foot braces in late Dec/January. By February when she was 22 months old, we decided to take her to a neurologist. It seemed to us that this was neurological in nature. After spending  many, many hours online reading about symptoms, I believed she had mild cerebral palsy. 


We went to see the neurologist in late February.  The neurologist diagnosed her with mild cerebral palsy upon exam, but wanted an MRI to rule out the progressive neurological things. We were not surprised by the diagnosis, or what the doctor was saying. And, we were happy to get the MRI to rule out anything else and get on with the business of helping Samantha work through her issues.


In March 2010, she had her first MRI, and unfortunately it showed signaling that looked like a metabolic (and most likely mitochondrial) disorder. In other words, this COULD be something progressive. Without further testing at that time there would be no way to know if it was progressive for certain.

Despite what the MRI showed, Samantha seemed relatively stable and was making slow progress. Her neurologist at CHOP (Dr. Berman) wanted to take a wait and see approach. He wasn't convinced what she had was progressive in nature. So, we agreed to wait two months and go back for a follow up to see how she was progressing in her skills. We also went to DuPont for a 2nd opinion, and other than suggesting blood work, the 2nd opinion neurologist agreed with the first and didn't feel further testing was necessary as Samantha was progressing in her skills. When the 2nd opinion neuro saw Sam's MRI scan she said, "well you know this is a classic "mito" MRI". She was also surprised Sam was doing as well as she was considering what her MRI looked like. All of this concerned us greatly, but nothing about Samantha so far had given us any reason to think that this "thing" was progressive (getting worse), whatever it was. And thus, neither of us were ready to put Samantha through any additional testing unnecessarily.

After two months (in May 2010), we went back to Sam's original neurologist and he felt she was still making progress (albeit slow). This time, he wanted to see her back in three months with the instruction to call if anything changed. Unfortunately a few weeks after that appointment, Samantha began having eye issues that were very new. In the past, her eyes looked fine. We took her to a neuro-opthomologist at CHOP who diagnosed her with a variety of eye issues (exotropia, ptosis, opthomaplegia , and optic atrophy). The neuro-opthamologist contacted Sam's neurologist Dr. Berman. Dr. B then called us and wanted us inpatient ASAP to do a variety of tests as he considered this a regression.

Mid-July we went to CHOP for an inpatient stay and got a slew of testing done (repeat MRI, MRS, bloodwork, urine work, VER, ERG and a lumbar puncture). Her 2nd MRI, according to the report, looked a little worse than the first and again suggested that this is metabolic in nature. Her MRS showed faint lactate peaks in the basal ganglia region, and her lactate was high in her spinal fluid (blood lactate was ok). 


All of these test results are pointing to a definite metabolic disorder, and most likely a mitochondrial disorder (mitochondrial disorders/disease fall under the "umbrella" of metabolic disorders). We are still waiting for a few genetic tests to see if they were able to pinpoint the gene that could be causing this. It is not always possible to find the specific gene but each year the technology gets better.

We met with Samantha's neurologist Dr. B this past Friday, and he feels a 2nd opinion from a top mito specialist would be helpful to us in terms of securing a definite diagnosis and creating a care plan for Samantha going forward. Our neurologist is going to contact Dr. Cohen (one of the top doctors if not THE top mito doctor in the country) at the Cleveland Clinic and hopefully we will be able to go there sooner rather than later. One test we have not done yet is a muscle biopsy. We are not sure if Samantha will "need" one to confirm a diagnosis-although currently the muscle biopsy is sometimes considered the best way to be sure you are dealing with mito.

Unfortunately, at this time, there is no cure for mito, and it is usually progressive. It can affect any organ/system in the body. Currently it is impacting Samantha neurologically (and perhaps her eyes as well). Although there is no cure, there are steps we can take to slow down the progression. For example, we need to keep her well rested, hydrated, out of the heat, avoid sickness if at ALL possible etc and so forth. In addition, there are various forms of vitamin therapies that sometimes seem to help a little (called a mito cocktail by some). Although this is the diagnosis we are probably dealing with, we can't say it with complete certainty at this time. Even if it is the Final diagnosis, unfortunately there is no set course for these type of disorders. Each patient/case is different. Sometimes things progess and continue to get worse quickly. Sometimes the progression stops and thus kids actually begin to do better. The best way to know going forward how Samantha will be doing is basically to wait and see how Samantha is doing.

If you are interested in learning more about mitochondrial disorders, here are a couple of links to look at:




As for Samantha, she has been quite the trooper through ALL of this. She was amazing through the  hospital stay, and doesn't seem to mind the many doctors appointments and therapy appointments that fill up her schedule. Sam is her sweet, happy, adorable self and doesn't seem to be in any type of discomfort.

Samantha continues to take steps around the house but still prefers to crawl. Val and I got her a walker last week and that seems to help her be mobile outside.  Until now, she has not been able to walk at all outside more than a few steps (due to the varying terrain). Sam really seems to like the walker when outside and tries to get it to help her do things she is clearly not able to do--but it is cute that she has enough courage to try now.

Her speech is a little delayed--but she does have words (and a lot of "almost" words that I translate for people).

Although a progressive disorder is not something we would want for Sam, there is at least a direction for us now. We are still very concerned about what Samantha's future will be like--but as no one is promised a tomorrow, we plan to focus on today.

And today we had an amazing day at the park with our little girl. So, it was a good day. :)

Until next time,

Monica



Saturday, July 31, 2010

Welcome to the blog....

After some thought and deliberation, I decided to create a blog regarding Samantha. To be honest I never thought I would create a blog--and certainly not one dedicated to educating friends and family on Samantha's medical issues. However, I am hoping that this format will help keep those who care about Samantha informed about what is going on with her health, life, doctor appointments etc. Although we don't mind sharing medical information face to face with our loved ones, Valerie and I are hoping that this blog will help somewhat with allowing us to enjoy our time with everyone a little more. It is not always "fun" to talk about medical stuff at family gatherings and/or birthday parties. Of course, that doesn't mean you can't ask us questions if/when you happen to have them.

In addition to keeping friends and family informed, I am also interested in helping other families who may be even newer to this journey than we are. I have spent countless hours and many sleepless nights reading blogs created by other parents who have children that have medical issues similar to Samantha. I have found it tremendously helpful. And, I am grateful that they were generous enough to bother writing it all down.

Please note--I am making no claims regarding my writing skills. Just because I am keeping a blog doesn't mean I will be good at it. So, please go easy on me if you happen to notice some spelling or grammar issues. And, if it turns out to be a little bit on the boring side---I'm sorry about that as well.

Despite the underlying reason for this blog--in addition to all the medical talk I do hope to share from time to time some of the amazing moments of our incredible days. Samantha (if I may be so brazen to brag about my kid), is an incredibly beautiful, sweet, loving, caring, funny, adorable (are you getting the hint yet???) perfect human being. We are so, so lucky to have her.

So yes, we celebrate her everyday, and will continue to do so.

Going forward it seems Samantha's path is going to be a bit different than most. Not any worse, not any better--just different. She'll be doing things her way, in her own time, and to the best of her ability. That is absolutely fine with us. As long as we can keep her smiling and giggling--we feel we are doing our job as parents.

Welcome to the blog. Over the next post or two I will try to go back and document how this medical journey began, and where we are right now in the process.

Signing off for now,

Monica