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

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. ;)

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.

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:

http://www.umdf.org/site/c.otJVJ7MMIqE/b.5472191/k.BDB0/Home.htm

http://www.mitoaction.org/

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