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)










Cheesy grin..



She loves the new van...



Getting brave without her walker outside...

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.

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

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.

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

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.

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