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