Everyday Chaos

Learning Curve - Part 3

I finally have time to finish up Part 3  So it is now time to discuss the children and how the iPad is going to benefit them.  But first a quick update.  We started all of this research because Victoria was struggling with reading specifically sight words.  We got the IPad2 at Easter and I have seen a huge improvement in Victoria's reading abilities.  In my opinion this was a very worthwhile investment.  Anything that makes learning easier for the kids gets kudos in my book. 

MathBoard is fantastic on so many levels.  First, it covers all three kids and where they are in math.  Second, I can set up individual student "accounts" and pre-program what I want them to practice that day.  Third, it has a chalk board section where you can show your work.  Fourth, it will save quiz results.  Fifth, you can then turn the wrong questions into a quiz or walk through them in presentation mode.  Sixth, it gives us the ability to take work from the kids text books and review it with them step by step.  All we have to do is plug in the numbers to the problem.  Seventh, it has a presentation mode.  Hook it up to the TV and Steven can teach a math lesson as if he is using a chalkboard - but more legible.

SpellBoard is put out by PalaSoftware which also puts out MathBoard.  This is an app that all three can use, but one that I picked up with Nick in mind.  Nick can read like crazy but don't ask him to spell.  The poor little thing struggles so much with spelling that he has started to hate it.  This app has at least halted the further progress of spelling hate.  He now wants to stop his text book assignments and just work with the app.  Sorry Nick, the app is supplemental material.  Overall, this is a great app.  I can record the word, a sentence using the word in text, or the definition of the word and the voice part will be played back on the study portion of the app or whenever they touch the word.  Once the words are entered the app will also provide definitions.  This part has helped Alex a great deal since he has to define all of his spelling words each week.  Victoria just loves using the app.  She struggles with reading but is a fantastic speller.  Additionally, there are games.  The word search is impossible - both Steven and I tried.  Thankfully, there is a second game - a word scramble game that the kids like.  The other added benefit is that once the words are added to the database, I don't have to re-add them for the next one in that grade level.  Bonus for me.

Nova Elementsis another outstanding app.  Alex has Chemistry this year and next year so this app will be around for awhile.  The app is hosted by David Pogue.  The student can watch Nova's Hunting the Elements (we will do that via Amazon), work with the interactive periodic table or play the game Essential Elements.  Not only does the periodic table have readable information it also links you to the Atomic Sandbox where you can build the atom of the element you are learning about.  The host provides a quick intro into how you figure out the number of protons, neutrons and electrons in an element.  There is also a Auto Build function.  The graphics involved with putting the atom together are fantastic.  The kids want to build all of the atoms.  If you submit the wrong combination you blow up your atom.  Then there is the Essential Elements game.  In this game you have to build all of the atoms for common things like a watch and then put them together.  It is exhausting work but soooooo much fun.  This app is also great on the television.

All three of our munchkins love the game Stack the States.  With our home school curriculum the kids have to learn the states and capitals.  We used flash cards with Alex and let's just say it was a challenge.  This is awesome.  They can work alone or together.  They have to read a question about a state and answer it.  The question will address geography, landmarks, capital or nickname.  If they get the answer right then they have to drop the state onto their stack without knocking down all the other states that have been won.  Can be challenging when you have to put California down on Rhode Island and New Hampshire. 

Then there is Stack the Countries.  Another favorite but a bit more challenging since it takes the kids out of their comfort zone of the United States.  Alex plays it every night before he goes to bed.  It is another game where all three kids will work together to win countries.

Teach Me First Grade and Teach Me Second Grade.  Victoria adores Teach Me First Grade and has come to adore Teach Me Second Grade.  The First Grade version has a Spelling, Dolch Sight Words and Math (addition and subtraction) section.  Each section has five levels for the student to work through.  It rotates with one question from each category and for every three right answers the student earns a coin.  The student can then visit different shops throughout Teach Town and buy things.  Teach Me Second Grade operates on the same concept as Teach Me First Grade with the major difference being the math problems are timed and if you get all of the answers right in the allotted amount of time you get a bonus point that counts towards your coin earning abilities.  It also gives a report of where she is in each section.  This way I know where she is excelling and where she is struggling.

Reading Raven is a phonics based reading program.  You can set levels and skills that you want your child to work on.  The child then works his/her way through each level.  Victoria loved it so much that she completed all of the levels.  We are hoping that there will be an upgrade soon with additional levels.  

Shakespeare In Bits.  WOW!!!  Alex had Shakespeare this year and he will have even more next year.  This app is Free, but you have to pay $14.99 per play.  They haven't done all of the plays but they have a nice selection.  I was lucky in the 9th grade because my English teacher was awesome at teaching Shakespeare.  He taught us how to read Shakespeare so that it made sense.  This app does the same thing.  It also permits note taking, highlights challenging words and provides definition and sets out explanations.  Alex has to read MacBeth next year.  This is one of my all time favorite Shakespearean plays (not sure what that says about me).  I can't wait.  I bought the play a few days ago and I have already started going through the play.  I highly recommend this app if you have someone learning Shakespeare.

Math Bingo.  I was looking for an app that could just run the kids through some math fact practice.  This game is that and more.  You have three levels of difficulty to chose from as well as addition, subtraction, multiplication and division.  You have space for 5 players.  Each time you win the Bingo game within certain parameters you win a Bingo Bug.  Bingo Bugs let you play Bingo Bug Bungee which involves launching the Bingo Bugs to grab silver and gold coins.  While Bingo Bug Bungee is the more intriguing of the games, without actually playing Bingo and working out the math problems you can't earn Bingo Bugs ... and Bingo Bug Bungee is so much more fun with lots of Bingo Bugs.

(Sight) Word Bingo.  Same developer, same concept.  The major change here is that every game in this app requires the child to work with the sight words.  Huge bonus from a parental perspective.  Victoria likes this game as well.  It has helped with the sight word recognition.

Princesses Learn Sight Words.  What can I say?  I have a princess and she is working on her sight words.  I like the app because in addition to sight word games it has books you can buy and add to your library.  There is a song section for each book.  The princess uses a few sight words in a song and spells them to music.  Perfect for Victoria.  There are three games per book - memory, bingo and sticker.  There is also a coloring page which helps work fine motor skills.  I am considering picking up Princesses Learn Spanish and Princesses Learn French.

Play2Learn French.  I like this app because it is simple.  You have a section where you touch the picture and learn the word.  Then there is a section where the word is spoken and you have to the correct part of the picture that matches the word.  The only draw back is when you get a wrong answer the app makes the sound of breaking glass.  The kids think that is hysterical and will purposely hit the wrong answer to get the breaking glass sound.

Math Blaster is put out by Knowledge Adventure which has been developing learning games for kids for a long time.  This group puts out the Jump Start software and web games.  My kids love all things Jump Start so this game is a definite hit.  I like it because I can set the skill levels based on who is playing the game and how they are advancing. 

Jetpack is another Knowledge Adventure/JumpStart app.  It is great app.  Whereas Math Blaster only does math, Jetpack does math and grammar/phonics.  This is another popular app at our house.

Science 360.  The photography alone got me hooked on this app.  It has science based videos, photos and information.  The boys love the learn physics through winter olympic sports. 

Chem Lab.  This app helps reinforce chemistry equations and building chemical compounds.  The problem with the app is that if you mess up you blow up the professor.  Victoria finds blowing up the professor absolutely hysterical.  We limit her time on this app.  Alex, Nick and I have a great deal of fun working through the chemical equations and making the requested chemicals.

Dinosaur Zoo.  If you have a Dinosaur lover in your house this app is a must.  It has an animated section where touching the screen produces different results.  Then there is a fact section; a location section where you watch modern day continents melt down to what they were during the time the dinosaur in question lived on the Earth; a fossil discussion section; and a palentologist notes section.  Right now there are only 12 dinosaurs but based on the map lots of additional dinosaur packs are planned.  I hope they have a few new ones soon - the dinosaurs at our house are getting impatient.

Birds of Prey.  I picked up this app for my bird lover Nicholas, but it has been Victoria who has been playing it the most.  The app provides a list of birds of prey that you have win, hatch and then care for.  It provides facts about birds of prey as well as their calls.  The games help reinforce the facts about the different birds.  Overall, a winner.  I think I am going to look at My Bird World as well.  Both apps were designed for use in the classroom - added bonus.

The Khan Academy has over 2,700 educational videos and they are all free.  I have just started exploring this collection and have been blown away thus far.  I listened to a lecture on the accuracy of x-rays in diagnosing issues with the cervical spine.  It focused solely on what was needed for an adequate image and the processes of the cervical spine.  I can't wait to see the more.

Outline Pro.  I bought this app for Alex to help him organize his papers.  Yes, I am such a cool Mom.  I have used it for some of my projects and I love it.  I doubt I will ever get Alex to admit that he loves a writing app, but hopefully he will appreciate it.

Of course all of this is supplemental to regular school material.  My theory is that if the kids spend their free time "playing" educational games it will reinforce the concepts that they are learning in school.   

Nick's Appointment with Dr. Francomano

So we continued our celebration of EDS Awareness month by taking another road trip to Baltimore for Nick's appointment with Dr. Francomano.  Of course we went in with a list of concerns about Nick as well as some feedback on other matters.

I have to say I absolutely love the iPad2 and the MyMedical app.  I forgot to print out a copy of the article on Convergence Insufficiency Disorder that I wanted to give to Dr. Francomano and with MyMedical I was able to email the article to her right there in the office.  Loving organization.  Nick showed Dr. Francomano the Brick Builder app - not a true Lego app but so much fun and a fantastic OT app.  The kids are so busy making their creations that they don't realize they are working those little fingers and improving fine motor skills. 

As usual Dr. Francomano was absolutely wonderful.  We walked through all of the issues Nick has been having.  I made Nick do his paperwork with me so that he would be focused on the appointment and participate more fully in the appointment.  (Seeing a pattern here?)  The paperwork responses resulted in identifying a few more issues that I was not aware of and now need to be weeded out.  I honestly wish every doctor's office would send the paperwork home ahead of time and go through each system as thoroughly as the questionnaire used by Dr. Francomano.  At least we are aware of a few things and can now proceed with addressing them or ruling them out.

One of the issues that I brought to the table was the possibility of pectus carinatum, which is a chest wall deformity seen in individuals with connective tissue disorders.  It pushes the chest out resulting in a "barrel chest."  It can also cause problems with underlying organs and produce a lack of symmetry with the chest.  Based on the exam Dr. Francomano thinks Nick may have this condition.  We will follow probably follow up at Children's National. 

Nick's MRI of his brain last year noted some ectopia of the cerebellar tonsils.  Somehow I did not see that report until a few weeks ago.  While the report stated that he does not have a true Chiari Malformation his cerebellar tonsils aren't exactly where they are suppose to be.  This is probably what is causing Nick's episodes of high inter-cranial pressure.  Nick will be using Diamox as Alex is to treat symptoms.  Since the appointment, we have had to use the Diamox at least twice and it has worked well.  We also talked about pituitary and thyroid issues with Nick.  This topic will be discussed further at a later date.  ICP can cause problems with the thyroid and the pituitary gland.

Unlike his brother Nick cannot take Promethazine due to breathing issues.  We are still working on an alternative since he is the one getting car sick. 

Aside from the light headedness and racing heart issues that he pointed out to the geneticist but not the cardiologist Nick is in pretty good shape.  Yes, EDS causes all kinds of fun times with the heart.  When he experiences the racing heart and light headedness points to some possible POTS issues.  We will be tracking these symptoms closely now.   

So in the end, Nick is doing pretty well.  We will follow up with what needs to be done (that never ending to do list will get even longer) and keep an eye on other things.  We have been here before and I am sure we will be here in watch, rule out and find answers land again.  Hopefully, the Diamox will continue to produce good results.

We will celebrate EDS Awareness Month yet again with Victoria's appointment this week.  Until then go to the EDNF website and learn a few factoids about EDS.  If you learn something at EDNF then you can say when I post about it - but I already knew that. 

Just a Rant or Two

To say the past few weeks have been frustrating would be an understatement.  I hate to admit it but I have nothing left in my reserves at the moment and it is making advocating for the kids really, really hard.  As the song says I need to dig a little deeper ... but honestly right now I am just ....

Tired.  I am tired of dealing with the gate keepers.  I am tired of having to be the one lookig into the new issues and figuring out what is going on (maybe I should have gone to medical school - oh yeah I don't like the sight of blood).  I am tired of having to respond politely (and really I am at the end of my politeness) to people to who have no idea what the kids go through everyday.  I am tired of justifying our decisions as parents to people who can't even spell Ehlers Danlos Syndrome of Chiari I Malformation.  I am tired of the flare ups (just one year could we please have no issues).  I am tired of the new symptoms (really, another one?).  I'm just so tired.

To the ridiculous MRI scheduler who cost me 20 minutes that I am quite sure neither one of us had to spare:  Before you start checking age charts and assuming I am lying, ask me if the MRI order involves contrast, because you see if it doesn't we can move onto the next step and we don't need to pull all of the kids records, put me on hold and search down a supervisor twice. 

To the nasty MRI tech:  I can read a script.  I know the difference between the cranial cervical junction and a full brain MRI.  I even know why the doctor wrote the script that way.  You see he wanted to make sure you did your job and didn't get lazy.  He didn't want you to stop with the imaging at the top of the cervical spine because the problem is at the cranial cervical junction. 

Again, nasty MRI tech, not that it is any of your business when I schedule my child's MRIs, but openly asking the scheduler to confirm what I just told you is not making you my friend.  Heck it may even irritate me enough that I start writing a letter to your boss.  Another pointer would be don't question why my son needs an MRI again this year when he just had one last year.  His symptoms are increasing and guess what the guy with the MD after his name would like to know why.

And yet again nasty MRI tech, don't tell a 12 almost 13 year old that he is a wiggle worm because you pulled his study from last year and he just needs to hold still.  Oh and don't talk over him when he is trying to explain to you that the reason he has trouble holding still is because he has a herniated disc in his lumbar spine.  Yes, he has a herniated disc with no trauma - mull that one over for awhile. 

To the super witchy scheduler at the neurosurgeon's office:  Please get off your backside and do your job.  Don't act like I am trying to pull a fast one when I tell you that I need to add a third child to the appointment and if that means we need to switch the appointment to another day so be it.  Don't make me justify why my daughter who had brain surgery a year ago needs to see her neurosurgeon.  Don't act like I am lying when I tell you all three of my children are existing patients.  Here's an idea pull them up on the screen - presumably you are capable of working in a few keystrokes to your work day otherwise I am guessing you wouldn't have been hired.  In the end not doing your job means I am going to be compelled to send of an email to your boss complaining about your inability to do your job.

To the cardiology tech:  An 8 year old is not only capable of feeling pain but he is also capable of expressing his discomfort.  Don't dismiss him simply because he is  8 and the majority of the people you see aren't bothered by the adhesive for the electrodes.  The majority of the people you see don't have fragile skin due to EDS.  Just do your job and that would mean giving me the documentation that I asked for at the beginning of the appointment and not making me wait an additional 30 minutes once we are done.

To the administrative staff at the cardiologist's office:  Please get your act together.  When I request copies be sent to the geneticist I shouldn't hear from the geneticist a year later that she still doesn't have the requested documentation.  Please do your job and pull a file when I call and say I have no idea why we need to come in but the notice we received from your office says we need to come in - don't just say then you need to come in. 

In addition to all the nasty people I have been dealing with I have also been sick.  I have lost track of how many different antibiotics I have been given for this stupid respiratory infection - I guess not being able to breathe makes me cranky.  Add my own vertigo, nausea and headaches to the mix and I am really not in a good place.

Most of my stress though is coming from new issues with the kids.  I found the radilology report on Nick from last year and I have no idea why I didn't have it before the appointment with Dr. Keating last April, but I didn't.  Let's just say it explains a great deal with what is going on with Nick now but I really need an official weigh in from Dr. Keating.  Nick is at a point where he is getting car sick.  He can last anywhere from 5 - 30 minutes before he is sick.  This isn't good.  He is having more dizziness, nausea and headaches.  Alex is having issues with his thoracic spine, brain fog, headaches and nausea.  Admittedly this is a bad time of year for all of us with the weather changes, but this is getting a bit challenging to weed through. 

So, all I want at this point is for everything to just go smoothly.  I want my fight back.  I just want everything to settle for awhile - but then again don't we all?

Nick's Visist to the Cardiologist

Monday morning Nick and I paid a visit to the cardiologist.  This was not a visit on my radar (we were just there last year), this wasn't a follow up visit due to an ER trip and this wasn't a visit that was on the cardiologist's radar.  It was an administrative misstep that should not have happened but it did.  I am still working through the various issues with the cardiologists office so that when Nick is suppose to see him next year there isn't an issue.  I don't have time to have three kids on different evaluation schedules.

The good news is that Nick's heart murmur and prolapsed mitral valve are stable.  No changes from last year.  Great news.  Also, his aortic root is where it should be and is not showing any signs of dilation.  More great news since this is a very real and very scary problem for people with EDS. 

The visit to the cardiologist almost always involves and EKG and and echo cardiogram.  These are really hard for Nick and I hate having to watch him suffer through these very necessary procedures.  Because of the EDS Nick's skin is super fragile and the pain from the adhesive that is used to attach the electrodes is horrible for him.  Of course the tech had to keep telling him that it doesn't hurt and there are no ouchies at this office.  Monday morning, coupled with really difficult two weeks and the tech got a lecture from me on how EDS does cause pain and how fragile Nick's skin really is.  She took the hint and remained silent for the remainder of the exam.  If you haven't walked a mile in someone else's shoes do not presume to know what he/she feels or the burden being carried.

Nick was a trooper and decided to handle the echo adhesive himself.  He took the adhesive off which gave him some control over the situation.  Next time I will let him take off the EKG adhesive as well.  Great job Nick.

The Newest Member of Our Family

We recently added a new member to our family - Murphy.  We brought our little munchkin home almost two weeks ago.  He is such a little sweetheart with lots and lots and lots of personality.  Here are some photos of our Murphy.

 

Nick watching Murphy eat his shoes.

Victoria enjoying Murphy.

 

I love all of the smiles that Murphy has brought to our home.

  

 

 

 

Murphy has brought so much happiness to our home.   

 

 

 

 

 

Flowers and Gardening

I love this time of year as the gardens start to come back to life.  It has been a great spring here.  We already have peas, lettuce, spinach and potatoes growing happily in the yard or on the deck.  We have all kinds of herbs - most of which come back year after year.  We have tomatoes, squash and cucumbers to plant as well as some flowers and a peach tree that Alex wanted.  Did I mention I love this time of year?

 

 

 

 

 

Alex's Vistit with Dr. Francomano

We kicked off Ehlers Danlos month by making the first of four visits to see Dr. Francomano - the greatest EDS geneticist of all time.  Since Alex has been having issues he got to go first.

This was the first time that we made Alex participate in both the pre-appointment activity and really work with Dr. Francomano during the appointment.  Before we went to see Dr. Francomano, I added as much of Alex's recent medical record as I could to My Medicalon the iPad.  With the office visits section you can create a list of questions that you want to ask the doctor.  Alex and I sat down and came up with a list of issues that he wanted to discuss.  (As an aside check out this app it is awesome).  He was actually more interested in working with me than I anticipated.

Overall, the appointment went well.  We talked about Alex's headaches, the numbness in his feet and hands, his pain levels and the brain fog.  We also talked about the nausea he gets with his headache and how I had given him a Promethazine pill the last time around to help with the nausea.  Based on the fact that Alex's headaches are intermittent and occur mostly with the presence of a lower pressure front, we discussed the possibility of high inter-cranial pressure.  Distinct possibility - it is one of my issues.  We also talked about a lumbar puncture to get an initial pressure reading.  Seriously, I am not thrilled about this option - too many issues with an EDS kid.  I think my doubt came through on my face because Dr. Francomano suggested trying Diamox.  We have to keep a close tab on the weather and give him the medication in anticipation of a storm or at the first indication of symptoms.  I am really hoping that this helps him with the headaches.  

Dr. Francomano also prescribed Promethazine for Alex to help with the nausea that often accompanies the headaches.  We know that it works.  It made him sleepy but it definitely took care of the stomach side of things.

Dr. Francomano also reminded Alex of the importance of continuing working out and doing his physical therapy.  I showed her another app iMuscle and she made a point to write it down.  This app lets you pinpoint problem areas and then provides 2 sets of exercises and a set of stretches to strengthen the area.  In addition to providing the name of the muscle set and demonstrations of the exercises I can set up individual exercise programs (with modifications) for each one of the kids.  It has been a huge help with showing the kids the person on the app and having them point to the "pin" where they have pain.  (Now if we could all get over being sick so that we could get back into the work out/PT room it would be great.  Four cases of strep and I have my third round of bronchitis for the year.  Fun times.)

So, overall a fantastic appointment and a great way to kick off Ehlers Danlos Awareness Month.  We will continue celebrating this month with Nick's appointment on Friday.

May is Ehlers Danlos Awareness Month

May is Ehlers Danlos Awareness Month.  I would love to say Happy EDS Month! - but I am not there in my journey.  Maybe when we reach the point where I don't have to spell Ehlers Danlos Syndrome for medical professionals responsible for the treatment of my children, I will be able to celebrate how far we have come.  For now I will settle for raising awareness and getting the word out. 

To kick off May and Ehlers Danlos Awareness Month I am reposting below what I wrote last year.  It is still a good introduction to EDS.

There is a saying in the medical community "If it sounds like hooves - think horses not zebras."  We thought horses for many years.  When Alex would wake up screaming with leg cramps we were told "growing pains" or "dehydration."  When Nick couldn't regulate his temperature as a baby we were told that "it's nothing."  When Victoria cried for the first three months of her life we were told "she's colicky."  When Alex developed headaches that landed him in the ER, we were told "migraines."  Initially, we listened and we believed that the hooves we heard were horses not zebras.  I now tell doctors that I have seen more zebras in the past 5 years than most of them will see in all of their career.  As Nick would say "just saying."

Then I got sick and the doctors couldn't even come up with plausible horses they were shouting zebra - the wrong zebras - but zebras nonetheless.  The misdiagnosis and the treatment for the initial diagnosis that the doctors  gave me made all of my zebras which had been hanging around posing as somewhat manageable horses for years to show all of their stripes.  During the first 6 months while the doctors tried to figure out what was wrong with me and while I was on Prednisone at doses that were ridiculous I was angry.  My anger became determination to figure out what was wrong. 

My journey for answers landed me in Dr. Francomanno's office after my orthopedist told me he couldn't help me while he was bending my thumb back to my wrist.  No, it didn't hurt - but it was a wake up call.  I will never forget the afternoon that I walked out of the geneticist's office in tears with an affirmative diagnosis of Ehlers Danlos Syndrome (EDS) hanging around my neck.  I was also advised to seek further evaluation for a possible tethered cord and Chiari Malformation.  And don't forget to schedule the appointment for the kids because EDS is an auto-dominant trait - meaning it only takes one parent to pass it on and therefore you have a 50% chance of passing it on.  Overwhelmed would have been an understatement. 

So what is Ehlers Danlos Syndrome?  EDS is a connective tissue disorder.  There are various forms of EDS, but all forms of EDS involve a genetic alteration at the molecular level which causes abnormalities, (weakened) defective connective tissue within the collagen itself.  Collagen is a protein that acts like "glue", which holds the body together, and makes the connective tissue strong and provides elasticity.  Collagen isn't just found in the skin.  It is found in blood vessels, heart muscle, joints, the gastrointestinal system, muscles, ligaments, vision (eye muscles that don't work together), the immune system (our bodies work so hard just to do what we have to do everyday that our immune system suffers), etc.  It is a degenerative condition.  The collagen in human bodies, like everything else breaks down as we age.  If your collagen is already weak then things in your body are going to break down even faster, unless you take precautions.

Let's just say that first year after the diagnosis was rough.  There were so many other things going on in our lives as well that most days were an effort just to figure out what needed to be done.  Five years out and I am now at a point where we are much more proactive than reactive.  We know that there are things the kids and I can't do or we can do but there will be a price that will be paid later on.  So we pay attention to our bodies, we use ankle braces for long hikes, we do physical therapy on a daily basis as much as possible, we protect our bodies against the impacts of everyday life.  We walk a fine line with letting the kids be kids while trying to protect their bodies so that when they reach my age they will be in better shape than I am.

I just told someone that I can handle EDS.  I have also decided that it is time to find my voice.  My children and I have genetic conditions that cause bi-yearly visits to the cardiologist and result in brain surgery.  It is time for me to start doing what I can do further understanding and educate people about EDS and our other issues.  EDS is so often misdiagnosed or not diagnosed at all.  I am fortunate to have a supportive husband and friends.  I am grateful that EDS hasn't made us wheel chair bound or house bound due to the pain.  It has done that to others.  During May learn about something new.  Check out the Ehlers Danlos National Foundation's web page.  You don't have to become an expert, but you can learn something new.  It is estimated that 1 in every 5,000 people have EDS.  The odds seem high until you extrapolate that out against the entire population.  You may actually know someone with EDS. 

Looking Back and Moving Forward

A year ago yesterday, we sat in Dr. Keating's office and listened as our world came to a screeching halt.  A year later, that weekend, that day, that moment, is still fresh and reading the words that I wrote a year ago still makes me teary eyed.  I doubt there will ever come a day when I can read that entry or any of the entries leading up to and after surgery without tears.  But that's O.K.  Remembering is necessary - not easy but necessary.

So much has changed in a year and yet so much has remained the same.  As we prepare for our next visit with Dr. Keating and start the MRI process again, reading my entry from May 1, 2011, reminds me that we can handle the really hard things in life as a family.  We can walk through the bad together and get to the good. 

Victoria and I marked the one year anniversay of being told that she needed brain surgery by participating in the Walk for Babies.  When I signed up for the walk months and months and months ago, I didn't make the connection to the dates. 

Not once during or after the walk did Victoria complain about leg pain.  I was so shocked that she walked three miles without mentioning leg pain that I asked her if her legs were bothering her last night or had bothered her during the day.  The answer was a resounding no.  A year ago leg pain was a constant for her.  There were no activities that she could do without mentioning the pain in her legs.  She was even skipping dance recitals due to leg pain.  To see her do the Walk for Babies this year without pain is amazing. 

Below is blog post that I wrote on May 1, 2011, telling the world that our beautiful little girl was going to need brain surgery. 

I don't know how to start this post - but then again I don't know to handle the situation we are in.  With Chiari I Malformation and cranial cervical instability and herniated disks - brain and or back surgery has been a possibility looming on our event horizon for three or four years now.  We found out on Friday that living with a possibility is completely different than living with a definite reality.

What started out as a yearly trip to Annapolis to see Dr. Keating turned into one of those moments in time when you face a life defining moment.  Dr. Keating told us that Victoria was going to be last because we had a great deal to discuss.  I didn't think too much about the statement.  Victoria always goes last because she has a Chiari I malformation and we always have a bit more to discuss with her.  So we got through the boys check-ups without any major issues (I will update on Alex and Nick later).  Throughout the boys exams, Dr. Keating was asking us about various issues caused by Chiari and Victoria.  I have been seeing a bit more swallowing issues with her, but we have been dealing with swallowing issues with Nick for so many years, that Victoria having difficulty swallowing just didn't send up red flags.  All I can say is hindsight is 50/50.

After  the boys were done, we went into Dr. Keating's office to view Victoria's scans.  He pointed out two major issues and I could feel my heart stopping with each word.  We have been doing this for years and even though the kids haven't been candidates for surgery I have kept up with the problems and issues caused by Chiari, syringomyelia, tethered cord etc., etc., etc.  So when Dr. Keating pointed out the syrinx on Victoria's MRI my world stopped spinning.  

A syrinx is a fluid filled sac inside the spinal cord.  Victoria only agreed to participate in a cervical spine MRI and a brain MRI prior to our appointment (and that cost me 6 new Barbie dolls!).  We know that she has a syrink that begins at C-6 (the 6th cervical vertebrae) and continues to T-2 (the second thoracic vertebrae).  There are 7 cervical vertebra so this isn't a huge syrinx.  However, we did see portions of either a second syrinx or a continuation of this one in the thoracic area.  We will know more once we get her thoracic and lumbar MRIs done.  The syrinx she has is taking up 50% of her spinal column.  This means there is pressure being placed on her spine and the longer the pressure continues to be placed on the spine the more neurological damage is done.

But her syrinx isn't even the worst news - it gets better.  Victoria has a 20 mm herniation of her cerebellar tonsils.  This means her cerebellar tonsils have descended out of her skull and now reside in her spinal column.  We knew this last year.  What we found out this year was that her brain stem has also descended out of the skull into her spinal column and appears to be a bit stressed from the pressure and location.  This is why Dr. Keating was asking if we had noticed any changes in her breathing when she sleeps (i.e. any periods of apnea) and if she was having increased swallowing issues (major red flag is an inability to swallow fluids - while she has had an increase in swallowing issues, including swallowing fluids it isn't an extremely frequent occurrence and she can still swallow liquids).

The tears started for me with the syrinx and continued almost through the remainder of the appointment.  These weren't the racking sobs that came later these were just the tears that I couldn't stop no matter how hard I tried.  Thankfully, Steven was able to ask questions.  I once had a friend tell me that no matter how upset you are when you are in a situation like that and your child is involved, you remember every little thing.  It took about 2 hours, but I did recall the majority of the appointment in ridiculous detail.  Like I said the world literally stopped spinning for me and I'm sure for Steven as well.  We have more questions that we will be sending to him via email and we will be having follow ups sooner rather than later.

So, Dr. Keating wants to do surgery this summer.  We will be scheduling a date for surgery once I work through everything that I need to with my office.  Right now July is looking like the most promising month to schedule surgery.  Part of me is terrified to wait that long with the brain stem issues, so we are also looking at a possible June date.  As silly as it sounds, I want her to be able to participate in her Kindergarten graduation. 

Dr. Keating wants to go with the most conservative and least invasive approach first.  This means he won't be cutting the dura (which is the covering of the brain).  He will go in remove a portion of her skull and C-1 vertebrae to give her brain more room.  What he is hoping will happen is that her cerebellar tonsils and her brain stem will return to where they belong.  If they don't, he will then shave the dura to provide even more room.  One major complication is that she has Ehlers Danlos Syndrome and she is more prone to a Cerebral Spinal Fluid leak if the dura is cut or possibly even shaved.  The Ehlers Danlos Syndrome throws in quite a few unknowns.

The other hard pill to swallow is that there is no cure for Chiari Malformation and Syringomyelia.  Believe it or not brain surgery is a management tool for Chiari Malformation.  We are hoping that she only needs to be decompressed once, that her syrinx will shrink and never return and that she will become asymptomatic for the rest of her life.  As a friend said when I told her about Victoria's surgery - pray for a miracle.  I will pray for a miracle and for safe passage for Victoria through this chapter of her young life.

Right now we are working through what needs to be done prior to surgery.  Some of the routine doctors visits that we had scheduled will now become a bit more complicated.  We are working through schedules and planning how we are going to be handling things including how to tell Victoria.  No, we have not told her yet.  If anyone has any advice on how to do this please feel free to share.  I don't know where or how to begin.  Victoria was indignant when we told her that she needed an MRI because her brain was in the wrong place.  Her response was "Mommy, my brain is perfect!"  Yes, Victoria it is perfect now, it is up to us to get it back to it's perfect location.

I don't have the luxury of forgetting how things were before surgery.  Chiari has no cure.  Brain surgery is merely is treatment option to alleviate symptoms.  We know this - it is a fact of life that will be with us forever or at least until a cure is found for Chiari.  Looking back helps me to stay focused.  It helps me to see even on the bad days that Victoria has come a long way from just a year ago.  Looking back helps me to move forward.  Life has no guarantees but I life does provide victories and moments to celebrate. 

As I look back on where we were a year ago and where we are now, I am amazed and humbled.  I know that my daughter has an inner strength that will get her through her life.  I know that life is not going to be easy for any of our kids but together we will get through the hard parts and we will celebrate the victories and the moments of joy.  I know that Chiari and EDS will not define who our children are ... Alex, Nick and Victoria will define who they are and what they do with their lives ... Chiari and EDS will present issues and obstacles but they won't define our children they will simply make them better at being who they are.

Congratulations Victoria!  I know we will do the Walk for Babies again next year and have even more to celebrate.

Holding My Breath

It is that time of the year again.  The time where I hold my breath for about 3 months.  It is usually a period of standing against wave after wave of information and letting everything wash over me and sink in so that eventually I can take action.  Over the years I have learned how to deal with this time of year.  I have learned how to hold everything together until I have a really good reason not to or I have a chance to exhale in relief that even if things aren't perfect they are doable.

It wasn't suppose to be like that this year.  This was suppose to be our easy year.  The boys were to be off of the neurosurgery rotation.  Everyone was suppose to be off of the cardiology rotation.  All I had to do was get things in order for our genetics appointments with Dr. Francomano (those were scheduled back in October or November of last year for May of this year).  I needed to get Victoria in for a 6 month with Dr. Keating but that wasn't a rush. 

So what is my issue you ask?  Well things never seem to go as planned.  I picked up the mail last week and opened a snotty little note from the Cardiologist telling me this was the second notice that had been sent for Nick to come in this year.  First, I never saw the first notice.  Second, when did mail become more reliable than the 4 telephone numbers that are in the record with that office.  I called the cardiologist's office and asked why things had been changed, but that my friends is not a question a mere scheduler is willing to look into.  I'm not upset at the overall outcome, I have wanted to move to a yearly evaluation period, but on my terms and my time line.  If I had walked out of the office last year knowing that Nick or all three were now on a yearly schedule I would have scheduled those appointments in March so that I would have everything I needed by the crazy month of May.  Now I am rushing to get the appointment in before we see the geneticist who also uses the information.

Alex has been having problems this year.  I have been sitting on the fence going back and forth about whether or not to put him back on the neurosurgery rotation.  Between his increased brain fog, pain and less than stellar PT review, I decided to send him back to neurosurgery again this year.  One of the many great things about Dr. Keating is that he truly believes that parents know the child better than the doctor.  If I think there is a reason for him to be seen, there is no issue in scheduling the appointment and obtaining the necessary scripts.

I am hoping that Alex's issues are due to lack of exercise and PT.  Between illnesses and EDS related injuries Alex hasn't been in the PT room at home for quite awhile.  I am also hoping that this is nothing more than growth spurt related problems.  Every doctor that we have seen since the initial diagnosis has told us that the worst time period will be the growth spurts in the teen years.  Hopefully everything on the MRIs will remain stable. 

So, our schedule for the next few weeks is insane.  It took me two days to set up the majority of the appointments and now I need to tweak a few based on discussions with the neurosurgeon's office.  I can tweak since we will have all the answers we need by the end of May. 

One month and I will be able to exhale.  I can do one month.