Scott and Bridget met in 1993 and were married in 2001. In September of 2003 we welcomed our first miracle, James. 16 months later we brought home our second miracle, Annie. And in October of 2006 our family was complete with miracle #3, Gracie. Rett syndrome entered our lives when Annie was diagnosed on May 19, 2006. This is the life of the MacDonald family as we juggle 3 small children and battle Rett Syndrome until Gods perfect time when we are cured.

Friday, December 30, 2011

Why Me? Why Not?

It's funny, we started out this journey wondering "why me?", "why us?", "why sweet Annie?" - she was so perfect, so complete - our first baby girl, a little sister, a boy and a girl just a year apart, WOW, were we blessed........ and yet, we didn't quite know it.

Almost 7 years ago when Annie was born we should have thought "why us?" - "Why did you bless us so abundantly Lord?".  Nope, those words were never spoken.  Yes, of course we were thrilled, of course we thanked God for our little family, but we sort of expected kids who could walk and talk.  We thought for sure we would have kids who would have melt downs or who may not have the best of manners, maybe even kids with allergies or other inconveniences, but it never crossed our minds that maybe we would have kids with seizures or g-tubes or orthotics or life threatening conditions.  We never thought that we would need to thank God that our child was breathing - after she turned blue and was raced to the ER over and over  again.  We never thought we would have to thank God that there was a medicine that could stop our daughter from hyperventilating because she was passing out so much from lack of oxygen and dehydration.  Never did we think that we would have to praise God each and every morning just because He graced us with another day with our sweet daughter.  When holding our little newborn angel we just thanked God that He had "delivered" - He gave us exactly what we wanted and expected - a healthy baby girl.  We never questioned it, we just thanked Him.

Boy were we nieve.  The sicknesses came, the development became delayed, the testing started and we became desperate.  We started begging and pleading with God - please, let this be an easy fix.  Please let this be a season, not a lifetime.  Please God let there be medicine that can help her.  We want, want, want, and expect, expect, expect.  What happens when we don't get what we expect to have?  When what we pray and plead for is something that is so natural and easy and expected for everyone else that its taken for granted?

We never ask "why me?" when good things happen but we are so quick to ask "why me" when bad things come into our life.  Why?  Are we so selfish that we think we deserve everything to be handed to us?  Do we honestly think that we are so divine that bad things can't touch us?  I don't know why God chooses certain people to give a "wake up" call to.  I don't know why He chose me, my family, my Annie, but I do know that I have been given an amazing gift.  A gift that I will always be thankful for, a gift that I will NEVER take for granted.  I have a child who is unable to do 1 single thing for herself, a child that is so helpless that every single aspect of her daily living has to be conducted for her.  So many things that are typically taken for granted I now praise God for.

I try not to ask the dark "why me" question but when days get rough I admit, I do go there.  The majority of my days, however, are spent asking God "why me?  Why did you bless me so abundantly" and you better believe I praise God every single morning my children wake just because they are breathing and thriving.

Job 2:10  "What?  Shall we recieve good at the hand of God, and shall we not recieve evil?"

It is in this same "why me Lord" attitude that we read the following research.

http://rettsyndrome.wordpress.com/2011/12/22/the-x-factor/

I honestly cannot believe that God has blessed us with such amazing research and has brought us so close to a cure for our Annie.  I know that she may not be cured in this lifetime, that only God knows when, exactly, He will grace us with her ability to walk, talk, and voice her opinions, thoughts and her dreams but I do know that I will continue to ask God "why me?  Why us?  Why Rett Syndrome? Why have you decided to bring THIS disease so close to a cure?" and in a perfect time I will ask "Why did you choose to bless MY families life with such an amazing miraculous cure?".  Until then I will continue to praise Him for what I do have - and that is far too much.  Happy New Year friends!

Friday, November 25, 2011

Truth in the Tinsel

One of my favorite things about homeschooling is looking around through blogs of other home schooling moms.  I am not a very creative person so I LOVE when other's post about a really great craft or a fun, creative way of teaching so I can take the idea and use it with my own kiddos - weather its teaching Annie something new or just having some fun with all 3 of them.  This is exactly what I was doing last week over at 1+1+1=1 when I was reading about Truth in Tinsel - An Advent Experience for Little Hands.  The name intrigued me because I am always looking for ways to steer my kids in the direction of Jesus at Christmas time and away from Santa and presents.  So, I dug a little deeper and LOVED what I saw.
The book starts on Dec. 1 and runs through Dec. 24.  Each day consists of 5 parts: The first part is a clue, the second is a scripture verse, the third is an ornament craft, the fourth is a discussion and the fifth is extras. Through this advent experience our family will go through the whole story of how God gave us His very own Son - the most amazing story ever told!  The book is incredibly organized and detailed.  It's an ebook so there are hyperlinks to the scriptures and all the templates for the crafts are right there on your desktop.  I've looked at a few of the ornaments and have already come up with ways to adapt them for Annie, not to mention all the opportunities we will have to use her computer to communicate about our lesson.  I've already decided that instead of having the kids read the "clue" for the day I will have Annie say the clue with her computer.  I'm so excited to start this tradition with my kids.  I think we will start by buying a small tree to set up in the basement that we can fill with all the ornaments we make.  I encourage you to check it out here: Special Black Friday price is only $2.99!  But don't worry, if you miss that price the regular price is just $4.99!  

Friday, November 4, 2011

Home Schooling

I'm thrilled to report that home schooling Annie is going GREAT!  We are both still alive and well :)  Seriously though, I'm actually quite shocked to say that things are going so well.  I've had homeschooling on my heart for years but I don't trust my heart, I'm a total control freak and I was really doubting that this whole home schooling thing was just something else I could control.  While that may be true to some degree, it is also very true that Annie's school setting was incredibly unhealthy (a recap here).  So, the homeschooling bit won out and I'm so happy that it did.

Annie and I are enjoying a much more relaxed atmosphere and the entire family is enjoying a much happier, calmer household.  I can't tell you how liberating it is to not have to research, gather professionals, and meet to battle the school for Annie's basic human needs (which was happening almost weekly).  To not have to beg someone or spend the money on an advocate or lawyer to get someone to help Annie go to the bathroom, eat with her peers or .... "gasp"..... spend some time in a gen ed classroom - is not only an enormous chunk of anxiety lifted off of our shoulders but also a very large cost savings for us.

The BEST news - Annie is flourishing!  Our family has seen a much happier Annie and screaming fits are at an all time low.  Everyone around her has seen a difference, her "buddy" for bible school has noticed a huge change in her social activity and a much better engagement of her surroundings and art projects that wasn't really there before.  I attribute a lot of this to her now being surrounded by people who believe in her, people who believe she is an intelligent little 6 1/2 year old girl trapped inside a body that doesn't work.
                                    
Recently I have come across 2 awesome things that describe Annie to a T.  The first is the picture above and the second is a quote from an article that I recently read about Maisy, a little girl battling rett syndrome: "Information is taken in normally, researchers say, but it can’t come out".  Information is taken in normally - normally, did you read that?  Normally!  That was always the point I was tying to make with people in education.  All of her teachers, therapists, social workers, even her advocates wanted to get it through to me that Annie doesn't learn like typical children learn and that is simply NOT the case.  This amazing child is taking everything in, she has been learning everything the typical way that any other kid does for her entire life.  The challenging part is to get it OUT but it IS going IN!  No special teacher, special curriculum needed - solid proof for full-inclusion that was denied to us year after year.  My heart aches - not for Annie, she is in a better place, she had a family that believed in her and had the resources to home school her - my heart aches for the kids who are being told they "can't" over and over and over.  The kids that are told they have no business being with other kids their age because they have nothing to contribute.  The children who are denied augmentative communication systems because the school feels that it will be wasted on them.  My heart aches for these kids.  I imagine they stay strong for a few years and then they start to give up.  If there wasn't a cognitive disorder to begin with on will certainly be created in these very intelligent children that have bodies that don't work.  What a shame, what a waste, what narrow minded people we can be.  


I'm not only pointing the finger at people in our district, but also at myself.  I believe in Annie 100% but she has never been formally taught many things so when I started home schooling her we started at a pretty basic preschool/kindergarten level.  We started using a wonderful program that we found online called "Ready2Read" By Annie Moffat.  I saw this online and instantly thought - this is GREAT!  Colorful, easy to adapt - perfect to teach Annie how to read. 


It took us a few weeks in September to actually get down to business, we were busy getting James and Grace settled and then just enjoying some calm time and trying to figure out a schedule - when would be best to learn (turns out Annie likes to relax and nap all morning, come 11am she is good to go).   But once we got going it was clear that Annie already knew what I was teaching her.  I worked very slowly, the 1 week lesson I stretched into 2 weeks and I went over and over words believing that insesant repetition would be the key to Annie learning.  Until one day Annie was irritated, looked at her computer and told me "easy" "slow".  I realized then that I was just like the public school I pulled her from.  I was using my own doubting and quizing over and over to make sure that Annie knew what I was teaching when all the while she was telling me to move on.  Sooo, that's what we've done, we have moved on.
  
Annie has gotten through 3 lessons in the Ready2Read curriculum and has continued to be restless, so the other day I pulled out a random stack of sight word flash cards, we hadn't worked on these before but she was asking for something more challenging - to my surprise Annie got 10 out of 10 right!  Clearly she knew these words.  I moved on to addition (we have worked so hard on literacy that I didn't give a second thought to other subjects so we hadn't gone through these either) turns out Annie knows how to add!  Smart girl!  Smarter than I gave her credit for.  


Well, lesson learned!  From now on I will be stepping it up with our bright little student.  Despite the illnesses that have plagued Annie already this season, our next move is to see if Annie is, in fact, already able to read - and why wouldn't she?  James started reading when he was just 3 years old, who's to say Annie didn't follow suit?  I will keep you all posted to see how she does!  And of course I will be writing more about what curriculums we are choosing and how we are able to test Annie on all that she knows and is capable of learning.  


The smartest of minds could be hidden in a child without a voice stuck in a wheelchair.  If we don't help get that information out we will be missing out on something extraordinary.  

Tuesday, October 11, 2011

It's Been a Week!

It started Monday, there was no school!  The kids were excited to wake up, watch cartoons and then have friends over.  James, Grace and Annie had a blast!  And I was thankful to have some time to get some stuff done that I was putting off to the side.  Monday ended with family game night at which time Annie started throwing a fit.  This is typical so we tried to calm her, laid her on the couch and assumed she was just tired.  That night Annie slept all night which is NOT typical but when it DOES happen we don't complain and take it as a blessing.  Tuesday she woke late (7am) and I didn't get into her room right away, instead I got myself ready as I watched her through the monitor -I heard a funny sound, looked at the monitor and knew instantly that she was throwing up - this is NOT unusual.  Oh boy, now we'll be late, I yelled down to James that he would have to make his and Gracie's breakfast, get himself packed and get shoes and socks on while I gave Annie a bath (Let me just take a second and thank God for my wonderful, independent, easy going, responsible Jamesy!). 

So, Annie gets a bath, we gather everyone into the car and are off to school by 7:45.  I thought it was a little odd that Annie wasn't screaming, squaking or vocalizing super loudly as she usually does but again, I was counting the calm, quiet drive as a blessing.  That is, until, Annie threw up again.  Ugg, alright, I thought, hopefully my dad can take Grace to school, I'll drop her off after I drop James off.

With James and Grace succesfully dropped off I took Annie home, on the way she threw up again.  We got home and first thing I did was put her back into the tub and got her dressed into some comfy Pj's - she'll be spending some time watching movies for sure.  After the bath I got Annie all settled into her comfy spot on the couch with her heated blanket - instantly she was asleep.  "Great" I thought "I'll wash Annie's sheets and get a workout in and then I'll be able to spend the day snuggling with my little girl".  At that moment Annie started throwing up again (glad I put down those towels).  I ran to her, got her limp body into a position so she wouldn't aspirate as she was throwing up and realized, wow, she's REALLY sick.  I threw the laundry in, got Annie some new towels and grabbed the ringing phone - it was my dad, apparently Grace didn't have school today - hmmmm, time to shine up that  "Mother of the Year award".
So my dad drops off sweet Gracie and as I'm in the driveway getting her into the house a car pulls up - "Oh Crap! Totally forgot that Annie's social worker was supposed to come by for her monthly visit". So, I give her the run down and she's fine with coming in the house and braving the airborne germs that may be lingering.  As we are chatting I hear Annie crying, loudly - I run to her side and realize she's crying with her eyes closed - that's weird but really, not that weird - Annie DOES have Rett Syndrome and what would be unthinkable for my typical kiddos is sometimes status quo for Annie.  We go on with our meeting, Annie goes on crying, I ask our social worker (who is a seasoned mommy of 5 with 1 Down Syndrome sweetie) if she thinks this is something that I should be more concerned about, she turns it back on me, feeling confident in my mothers instinct (apparently she didn't see that the mothers award is in the shop being polished).
Immediatly after our social worker leaves Annie throws up again but this time she doesn't even wake up.  OK, now THIS is really weird.  I clean her up only to realize that now she has diarrhea and is still not waking.  I do the thing I always do when I'm freaked out, I call for the second opinion - AKA - Daddy!  Scott says that I should trust my instincts but keep him posted (honestly, doesn't he realize that a call to him means HE needs to make the decision - YES, I realize he has no idea what's going on because he is not here!).  So, I clean Annie up once again, realize Gracie needs to eat lunch (thankfully Gracie follows suit with her big brother and thinks its "fun" to make her own meal) so she prepares her lunch while I throw in another load of laundry and run back up the stairs to pick Annie up who is now completely lifeless and dry heaving without waking, and then, it happens - her eyes POP open and dart to the left, but I can't seem to get her to respond to me, I call her name, shake her, move her face "oh God, this is a seizure".  I wonder if I'm over reacting so of course, I call Scott - he tells me, "hang up and call 911".  I hang up, Annie is now limp and falling asleep, she is breathing and seems to be a bit better but not out of the woods.  Ok, I thought, peds are out to lunch so maybe I should take her to the ER.  I call Scott AGAIN and he says he's already in route on the way home.  When he gets home he takes one look at the little pile of Annie on the couch and says she needs to go to the peds -Yep, I know, however they are closed for lunch right now or else I would have taken her there instead of suggesing the ER.  So, we wait until lunch is over, call and get into the peds - Annie is now so limp and lifeless, she continues to throw up without waking.  We get her into the car and decide she can't even sit in her wheel chair, she's so limp Scott needs to carry her.  Annie's doc comes in and all of a sudden she does the wake up, look to the left but not respond "seizure" thing again.  Our ped says - lets run a pulse OX but I'm afraid you will need to head to Beaumont ER.  We of course do, all the while Annie is still asleep and dry heaving.  We drop Grace off with my mom and head to the ER.
As we walk into the Beaumnot ER  I assume we are there for some IV fluids and just a watch but things quickly turn when I look at our slip and we by pass triage and are written as "Urgent".  I assume this is because of her "chair", people always get bent out of shape when they see a special needs kiddo.  There aren't any beds so we are in the hall for a very short time, the nurses get our history and we are quickly put into the next available "room".  We tell the docs the story and realize, it's now 4pm and Annie is STILL not awake or arrousable, it's obvious the doctors are VERY concerned, they come in to take more info and Annie does it again, she opens her eyes, looks to the left and is unresponsive except now she is twitching..... hard - we tell the docs, "this is what's bothering us" but they are steps ahead of us and have an enteroge in the room in split seconds, giving meds and preping for a spinal tap, they fear Annie has meingitis.  They tell us that was a definate seizure and with the quick onset of symptoms and the inability to awake Annie they are deeply concerned, they have already checked her for the basics and are now concerned that she has meningitis, encephalitis or worse.  They ask if we would consent to a spinal tap.  Scott and I are shocked (we are well aware that most kiddos with Rett Syndrome have seizures so when they happened we thought "well, she DOES have rett"), we ask about pain but we're told that since Annie is unresponsive they don't want to give her further meds to sedate her, we agree to the spinal and to our shock Annie barely flinches, she opens her eyes for seconds but otherwise doesn't really respond.  Then we're moved to the PICU.
We are reequainted with the PICU and introduced to a fantastic nurse.  We settle in for the night realizing that we aren't going anywhere anytime soon.  Annie is now on an IV for rehydration and antibiotics.  Annie sleeps all night long which is NOT like her at all.  The next day she crabs a bit and opens her eyes but just briefly, we and the hospital staff, continue to be very concerned with her behavior.  Tests start coming back and of course there are no answers, everything comes back negative and there is seemingly no cause to Annie's sickness.
sweet Annie opens her eyes.
A quick 40 minute EEG was performed to make sure that Annie wasn't having any more seizures.  As time ticked on Annie got better and better, she became more and more alert and by evening this is what we saw: 
We stayed put for one more night and by Thursday morning it was clear that Annie was completely better.  
We got out of the room and headed to the Children's play area in the hospital.
can you tell that Beaumont has a FANTASTIC playroom?

Our nurse actually came into the play area to let us know that the EEG came back clear and we would be able to leave!  Hooray!  No actual cause was found for Annie's sickness, the thought is that she had some sort of GI virus that hit her fragile body so hard that it caused her to have seizures.  We were sent home with emergency seizure medication and were told that 1 of 3 things would happen - 1. this is the start of seizures for Annie, the vast majority of girls with rett syndrome experience seizures on a regular basis so it's likely this may be the case for Annie.  2. She will be more suseptible to seizures when she is sick. or 3. this was a one time, harsh reaction to terrible virus that came on quickly.  We are choosing to believe #3
A HUGE thank you to every single person at Beaumont Royal Oak.  They took such great care of our sweet little Annie and Scott and I as well.  It's a blessing to know that if, God forbid, we ever need to return to the hospital we will do so with piece of mind that we are in the very best of hands.

This experience has once again reminded me that as much as I want this beautiful little angel, Annie has never and will never be mine.  She belongs to Him.  I am just the person who has the privledge of  loving her and caring for her but I have no control over what happens to her.  God has a perfect plan for her life and she is safely wrapped in His hands.  He will work ALL things for good.  I will continue to fight for her, send her to the very best of doctors, and take the best care of her that I know how but I am also learning how to put my trust in Him.  "For I know the plans I have for you", declares the Lord, "plans to prosper you and and not to harm you, plans to give you hope and a future". Jeremiah 29:11

Friday, September 16, 2011

Quest for a Cure is here again!



Hi Friends!  I'd like to extend an invitation to all of you to our second annual Quest for a Cure 1K walk and family fun day at Inglenook Park in Southfield!  The day will consist of a short walk and then lots of fun for the kids with face painting, balloon animals, pumpkin painting and TONS of food, then some great raffles and prizes for the adults.  There is NO FEE for coming out for the day, bring all the kids and show your support with a donation of any size. 



As most of you know, Annie was diagnosed with Rett Syndrome at just 16 months old.  We watched in agony as it took away her ability to stand, crawl, walk, speak and feed herself.  It was devastating.  Our beautiful, smart little girl became trapped inside her body.
However, there is now HOPE!  Researchers have proven that Rett is REVERSABLE!  It is poised to be the FIRST childhood neurological disease to be CURED!
You can help make this a reality!  Join us for a 1K walk and family fun day as we raise money for research that will one day cure Annie and hundreds of thousands of girls and women worldwide who are suffering daily with Rett Syndrome.
We hope we can count on you to help us in our fight to rescue our daughter from this horrible disease.
If you are unable to attend but would like to support our efforts, donations can be made in Annie's honor online: www.questforacure.net  
Thank you, thank you for your continued support of our Annie and our family.  Stay tuned to this blog for excited research updates which are sure to be forthcoming and of course updates on our champion, Annie!  Your love, support and generosity mean more to us than we could ever express!  

Thursday, August 25, 2011

Careful what you wish for

Every year for the past 3 years we have gone to Kalahari Water Park.  It started out as Scott having a very rare day off three years ago and us finding a way of avoiding a day of "fixing up the house".  My friend had facebooked about having an awesome time at a waterpark - I emailed her that morning to find out where she went and we had reservations and were on our way to the indoor/outdoor waterpark resort just a couple hours later.  Needless to say we LOVED it!  More importantly, the kids Loved it, and even more importantly, so did Annie!  Woooo Hooo! Score!  This was fun for the whole family!  So the next year we booked without hesitation and asked lots of family to come join us!  Thankfully, they DID!  Even MORE fun!  This year, with the economy and some extra expenses not budgeted for, we didn't think we would be able to swing our 1 night away with the family.  In the end, we did, and let me say that we are so very happy that we were able to do that.  Our kids had a blast!  And Annie, true to form, did too - once she was acclimated of course.

We got there at about 2pm on a rainy Saturday.  Annie, having had a very pleasant drive with us, decided that she was NOT happy to be in this place.  So, as Scott and the kids got all the bags from the car and got dressed into their bathing suits I sat with Annie trying to settle her down praying that God would help Annie calm down and that she would have a happy time while we were on vacation.  When Annie is happy, the family is happy!  So, as Annie settled into a nap I sort of day dreamed away at an easier life.  I saw sweet Annie having a blast running through the waterpark with her little sister, free from the debilitation of Rett Syndrome - screaming "watch me mommy, watch me!'.  I saw my Annie running up the stairs with her brother on their way up to the waterslides to ride on together and then scarfing down pizza (feeding herself!) and asking for snacks and juice boxes.  What a blessing those day dreams were, although they left me quite sad when I woke, wanting so badly for my Annie to get her independence back.

The next day and a half left us with a sweet, happy, content Annie!  A blessing and an answer to prayer for sure!  But then again, this was the first year that we heard from James, longing for his sister (just 15 months younger and now 42 inches tall) to come on the rides with him.  He asked over and over and over again.  "Annie's 42 inches, can she come on this ride with me?"  "Annie's tall enough now, why can't she ride this with me?"  "I can help Annie get on this floaty why can't she come on with me?". Oh God how I wished I could take my prayers back.  I didn't want my content Annie anymore, surely if she was screaming and unhappy James wouldn't have longed to be with her.  But no, I prayed for content and content was what I was given.  Lord help us in what we pray for.  What a lesson.  The night rolled on and we had some amazing times as a family, swimming, playing, having fun.

Kalahari has this amazing restaurant that just honors kids and their need to be the center of attention.  They have a nice big stage and a DJ that runs lots of fun games with prizes and when the games aren't going on the kids get to DANCE on the stage!  Um, can we say "Gracie's  favorite place?"!  This year we got to the restaurant late so we had to sit a little far back and Grace was less than thrilled heading up to the stage "solo" so far from her family at the table.  I decided I would be her tiny cheering section and walked up to the stage with her, squating between 2 tables while she danced to her hearts content.  To my dismay Gracie walked onto the stage very shyly, didn't dance and walked back down to whisper in my ear "do you think Annie could come up and dance with me?"

James and Grace are being hit with the giant water bucket!
 James doing a little rock climbing.
 Scott and Grace!  I love that they are complementary opposites! 
 Scotty zip lining
 Gracie riding Ollie, the camel
 sweet little Lulu, napping
 James and Gracie brining us lunch!  
 Jamesy zip lining
 James with the Rhino!
 Sott and Annie

 James and Grace dancing at our dinner table.  
It's as though my sweet day dreams while Annie was resting calmly in my arms had turned into nightmares  All that I had asked for "Annie to be content and happy" had opened the flood gates of "what could have been".  Don't get me wrong, we had a fabulous time, but I couldn't shake the fact that Annie is getting older and the older she gets the more her sister and brother need her and the less I can take the place of James's "fearless younger sister" or Gracie's "partner in crime".  God how I hate having to let go and allow my kids to experience the pain of Rett Syndrome.  I have to feel it, but I can deal.  Annie has to live it but I can remain stead fast in fighting for her.  James and Grace, God help me, how do I help them walk this walk?  Lord, give these kids a heart to keep loving and believing in their sister.  No matter how long it takes for a cure to be found.

Tuesday, August 9, 2011

Whats keeping me up at night these days....

Any special parent knows that there is a huge, enormous, never ending list of things that we have to worry about with our very special little ones.  And I'm not talking the everyday, every parent kind of worry like "Will my son go to college?"  "Will my daughter stay away from drugs?"  "Will my kids stay safe while they are out with friends?".  We have worries that are much more immediate like "Is my daughter being educated in school"?  "Will my child ever walk?", and "Dear God will she still be breathing when I wake up in the morning?!".  Many of our kiddos have difficulty sleeping at night, I don't think this is by accident, I believe God did that for the sole purpose of making us parents exhausted enough to shut our brains off and get some sleep at night - if only for a couple of short hours.  Of course there are the rare occasions that our kiddos sleep consistently and with that new found rest our brains are recharged and able to worry again - enough to wake us up out of our precious sleep.

That is exactly what is happening now and the worry that is keeping me up is Annie's bones.  The typical parent might not understand but the special one knows, when a child does not walk or run or jump or play their bones feel it.  We all need weight bearing exercise to keep our bones healthy and that exercise is incredibly difficult with a child who is non-ambulatory.  Of course there are standers and walkers and therapy but there is no way you could even come close to the time a typical child is up and moving no matter how dedicated the parent.



Another piece to the bone puzzle is diet.  Annie should be getting about 1,000 mg. of Calcium per day, it should be pretty easy right?  Well, not so much.  Annie's tolerance to dairy is "iffy" at best.  At one point in time Annie was able to tolerate raw (non-pasteurized) milk which was awesome because in my opinion that is the best way to get calcium - it's surrounded by many other nutrients and is very easily absorbed.  But then she stopped tolerating it.  Of course there are other, less ideal options for "milk" - almond milk, soy milk, rice milk but, I don't agree with anything soy and Annie aspirates on thin liquids.  What about through the tube?  Yep, we do give Annie Hemp milk through her g-tube, but she isn't able to tolerate much bolusing through the tube, its tough on her delicate GI system.  Yogurt has always been intolerable for Annie, feed it to her and she just gags it back up.  Ok then, cheese - yes, she'll eat it, tolerate it, but it's a very special meal if you can get more than about 1/4 of an ounce into her.  I could go on and on about diet and the calcium rich foods - spinach - gives painful gas, almonds - great but she can only crunch, bolus and swallow a few of them - we have tried it all and come up short every time.  Believe me, as a dietitian it KILLS me not to be able to keep this child thriving with just food!

Annie has been on bone supplements since she was about 18 months old.  Thinking back Annie's bones and heart have always been a source of extreme anxiety for me - I have no control over her heart but darn it I was going to make sure her bones stayed strong.  This has proved to be a most difficult task.  Our bone suppelement is wonderful, it includes all of the essential ingredients to build bones - magnesium, boron, calcium, vit. D and K, yada yada.  Of course there is a balancing act to using supplements (especially with children) too little calcium in your diet can lead to bones breaking down to keep serum calcium levels normal but too much calcium can cause all sorts of issues including death.  We make sure to keep the balance at optimal levels, I tend to obsess over the numbers, calculating her night formula, her bone supplement, the hemp milk and whatever calcium rich foods I can I sneak into her during the day.  Another consideration is the type of calcium that is in the supplement is it calcium carbonate, citrate, gluconate, phosphate?  Calcium carbonate can interfere with the pH balance of your stomach (think tums).  And of course we have made sure that our supplement is from a reputable company since all supplements are not followed by the FDA.

Even with all of this careful calculating and supplementing we are still faced with osteopenia.  Annie has recently had a bone scan and we have found that her bones are thin in areas.  The news was quite a slam although not shocking.  We have been doing everything humanly possible, what's going on?  Oh, Rett Syndrome is.  I found this pubmed article that pretty much tells it like it is - girls with Rett Sydrome have low bone mineral content and what's more is that girls with R168X and T158M are at even higher risk for this.  Well, whadaya know, Annie's mutation is R168X.  You would think after reading this I would have thrown in the towel, it's Rett Syndrome, nothing we can do.  Oh no, you see when someone tells you something negative about your special kiddo "she'll never walk" "she'll never talk" "her bones will get worse and fractures will start" it only makes you work, think and challenge all the more.  You special parents know what I mean.  It's just a matter of thinking outside of the box to find something else that may help this bone situation - I'll keep you all posted if I come up with anything and Please, if you have any suggestions leave me a comment!

PS. I concentrated on calcium for simplicity's sake in this post but the truth is that there are many vitamins and minerals that contribute to bone growth, calcium alone will not do it.

Monday, August 1, 2011

Split Personality

Not many people realize this but I have a split personality.  At times I am a wife and mother of 3, other times I am a 6 1/2 year old little girl.  Living a double life is difficult, exhausting and often times just plain overwhelming.  The constant back and forth of each can be confusing to keep up with but it's a life I have been given and must keep up with, my daughter needs me.

There are many people out there like me.   They are easy to spot, they are the moms with a child in a wheelchair at the park that picks them up, struggles to carry them up the ladder and then slides down the slide - because they deserve to play.  It's the mom who is in the grocery store showing their non-verbal child 2 cereal boxes so they can make their own choice for breakfast - because everyone deserves to have a choice.  It's the mom who wasn't able to drop her child off at a birthday party, she had to stay, but smiles as she feeds her daughter cake and helps her daughter to carry a gift to the birthday girl - because she deserves to be included.  The mom who takes her daughter to church and pulls her out of her chair so she can help her dance, then grabs both of her hands so she can clap - because she deserves the right to praise.  It's the mom who invites other children over because her child can't pick up a phone, or dial, or speak - because everyone deserves a friend.  It's the mom who is in the movie theater reaching over to feed her child popcorn because no movie is complete without popcorn along with it.  It's the mom who pulls her child up to her feet at a school assembly because all the other kids are standing.  The mom who translates slurred talk or special looks to others because their child deserves to be heard.  The mom who is helping her child walk, or run, or jump or even sit because she deserves to experience what all the other kids are.  She's the mom that is happily explaining to a group of children why her child wears arm braces or travels in a wheelchair, or has a pacifier or can't speak because her child deserves to be understood and accepted - (even though she really feels like grabbing her child and running, crying and hiding until all of the questions go away.)

Us, "split personalities", aren't on Jerry Springer because we don't lead exciting or flamboyant lives.  we just spend our days putting ourselves in our childrens shoes and trying to think, act and do what our kids aren't able to.  We are the ones that are watching other kids to see what they play with, how they talk, dress, and wear their hair, so we can catch a glimpse of what our own child might like, do, say and look like if they were able to voice their opinions.  It's not easy to lead a double life.  You must keep a smile on your face at all times because there's no telling when you have to change into a 61/2 year old again (and we all know 6 1/2 year olds are always smiling).

Most of the time our evenings leave us exhausted, we change back into a parent and have to administer meds, hook up vents and tube feedings, snuggle, bath, dress, read stories and tuck in.  Then we wait, at this point we aren't sure what we are, caught between the 2 personalities.  At times we can be the mother that checks in on our kiddos, prays over them and heads to work or to sleep.  Other times we need to turn into a 6 1/2 year old girl and play, watch TV, or read until our child can settle to sleep.  When morning comes we wake knowing that we need to fulfill the lives of 2 different people again and that we only have 24 hours to accomplish that.

This post is dedicated to all of my split personality friends, our lives are difficult but are much easier when we lean on eachother.  Keep fighting the good fight my friends, your daughter loves and thanks you for it!

Ps. if you'd like to meet some of my split personality friends just check out the "we don't walk alone" list on the right!
Pps.  I know there are many special families out there that have a male child with special needs, I also know that there are many, many special daddy's out there that lead double lives as well.  I didn't mean to exclude you, I just write about my own experiences.  Kudos and blessings to all of you too!!!

Friday, July 29, 2011

Pool Party!

This summer its been HOT!  Like REALLY HOT!  Like 100 degree temps hot!  Infact the average temp for July was over 90 degrees - the AVERAGE temp. And we are talking humidity through the roof - this isn't a nice dry heat like Arizona, its a sweating, can't stay hydrated, hard to think kind of heat.  Ok, you get it.  Anyways, the most refreshing way to combat this heat is to jump into a pool.  Thankfully, my sister and brother in law have recently moved into a house with an in-ground swimming pool!  These two are amazing, they allow us to use the pool whenever we would like, day or night, weather they are home or not.  If they are home and they know Annie is coming over they make sure to crank the heat so she is comfortable.  And if we stay too late into the evening, they set up the Bar-B-Que and feed us.... all of us...... all 5 of us!  On weekends they have hosted several Hawaiian themed parties that all of the kids (and the adults) just have a blast at!  These guys are just so thoughtful and make it so easy for me to get all the kids out, cooled off and having fun with the convenience of allowing Annie to chill out inside and watch a movie if she's having a difficult day - any special needs mom knows how comforting that is!  A huge thank you to Uncle Jeremy and Aunt Jen for hosting such a great summer!!  

The Luau's!
 This is the cutest boy ever!  My God son Matthew!
 Crafts
 Cousin love!
 Silly kids
 no party is complete without a bunch of flamingos!
 Happy Annie
 Underwater
 The girls, poolside!

 My fish
 Summer time means pedis for the girls!  :)  

Thursday, July 28, 2011

Purpose? Purpose.

A few months ago at church we talked about and shared our 2 Word stories.  There were buttons and t-shirts and billboards that went up everywhere as a part of the movement called EACH - Everyone A Chance to Hear.  Our 2 word stories were meant to be shared in the hopes to inspire others to take the first step towards Jesus.  I had a lot of people ask me what my 2 word story was but hadn't been able to share because I couldn't think of how to narrow it down to just 2 words.  I've done a lot of thinking over the past couple of months and trying to determine the me before Jesus and the me now.  I'm different now but I couldn't really put my finger on exactly WHAT is different.  Until I thought back on my life:

Growing up I was pretty plain.  I grew up in a middle class family, nothing too exciting, went to school same as everyone else, played some sports and had some hobbies, I didn't have any real shinning talents but I was OK at things I did.  I didn't have a real group of friends that I hung out with, I had lots of friends in different circles but never really fit into one of those circles.  I went to college and had no idea what I wanted to do.  People told me to think of something that I was interested in - I always thought that exercising and nutrition were important but there was not a passion there - still that's what I majored in.  I always sort of felt that I was just going through life, not making a difference, not really putting my mark anywhere, just being.
I met my future husband when I was 15.  I think I knew the day that I met him that I wanted to spend the rest of my life with him.  I loved him more than anyone else in the world. And he LOVED me!  He loved me so much, I could feel it and his love gave me an identity.  That identity could only take me so far though.  We got married and life was good, but something was missing.  It wasn't long before we got pregnant!  YAY!  Oh was I elated when I first saw my sweet Jamesy and I couldn't have been more thrilled to stop working and care for him every single day.  I loved every minute of it but something was STILL missing.  I decided to start my own business, I gave lectures and did consulting on the side - freelance nutrition.  That didn't do it either.  Baby Annie came and I was beyond thrilled - to think a boy and girl just a little over a year apart from eachother - best friends!  What a wonderful life, you would have thought I was fullfilled, no, really, just busy, something was still missing.  Then the floor came out from underneath me, I was pregnant again and something was wrong with my daughter.  Wait, I'm searching for meaning and now I've been given all THIS to deal with?  How am I ever going to find my meaning, my purpose on this earth when I'm dealing with all this!?  Oh, wait, this is it.  In dealing with this new pregnancy and a brand new genetic and highly debilitating disease I was shattered.  I ran to church, I ran to God.  It was then that I finally came to know, offer up my life and begin a relationship with Jesus.  That relationship finally gave me a purpose.  I came to realize that I had been hand picked to live this life.  Hand picked to be this mans wife, hand picked to be the mother of these 3 precious beings and hand picked to walk the life of a special needs mommy.  WOW, completely humbled that God would consider me worthy to carry all of that.  It takes a Savior to give your life purpose and meaning.  It took me 29 years but I have finally found my purpose in life and for that I am eternally grateful.

Oh, and that floor that came out from underneath me, it has been replaced by a pair of very strong hands.

Monday, July 25, 2011

I Need a Vacation from Summer Vacation!

I am so overdue for a post.  There is so much to share and I'm not sure where to begin.  The summer time has been such an amazing time to spend with my kiddos.  We are so very busy over the fall and winter and most of spring that to have some down time is very, very welcome.  I have been embracing the lack of a schedule and just going with the late morning cartoons, PJ days and general lack of a schedule.  I have to say that it's been such an escape that even the few appointments we've had I've either forgotten about or messed up the dates or times, I think just because I'm so into vacation mode that I've refused to use a calendar :)   That is until this week crept up - YIKES! is an understatement.

James was at Springhill camps this week - what an amazing camp!  We have just LOVED every single second of it, so thankful that James' friend introduced us to it.  James has gone on water slides, climbed crazy high rope ladders, zip lines and done tons of other fun things in addition to learning about Jesus, praying, and sharing his faith.  Of course I don't have any of the good pics because I wasn't there but I do have a video of the closing day - this is a song that all the kids in James' group came up and sang - honestly, it was hard to keep from jumping up and dancing in the aisles - their enthusiasm is contagious!

Annie, of course has been doing her 3 week intensive therapy program (5 days a week, 3 hours a day - whew makes me tired just thinking of it).  This week was her second week.  I have to say that it's been much harder on her than 2 years ago when she previously went through this program.  Annie works so hard and we are now getting the same input from all of her therapists "she's so CLOSE to walking, we aren't sure why she's not taking steps on her own" - we aren't sure either but are eager to see Annie start.  At this point we are pulling out all the stops, trying everything that can be tried and keeping an open mind about most things, which has included ordering a SWASH, pulling out the (dreaded) thera-tog suit again and trying e-stim (electric stimulation) therapy.  Here is Annie in action at therapy this week:

Tired out!

Gracie - oh my sweet little Grace.  Gracie has continued with her gymnastics this year but at this point being only 4,  her classes are only once a week.  That means that she has been spending lots of time at Annie's therapy, running various errands and going to appointments with mom.  This crazy week has been toughest on Gracie so on Thursday I decided to treat her to a mani/pedi (which also meant that mommy got pampered - a nice perk!).  Gracie loved it!  It's funny how our home dynamics are, James is the oldest and Gracie is the baby, yet Gracie has to play the big sister role to Annie.  This puts my sweet Grace in a unique situation - is she the caregiver because of her sisters condition or the care receiver because of her birthing order?  I tend to overannalyze things so I'm tying to keep it in the back of my mind and be very sensitive to her needs and wants but not make myself crazy over the whole issue.  I want for Grace what I want for all my kids, for them to feel not only needed and wanted but also that she is a very important girl, that she is loved by God and that she is a treasure no matter what is going on around her.  Of course there's a balance to it, I think at age 4 she's already a little too "at home" when she's in the salon :)

So combine all this fun with a crazy rare rash, substantial GI issues, a few trips to the peds, lots and lots and lots of medical phone calls, an eye doc apt. and a wonderful, supportive, helping husband who was stuck working late every night this week all in 100 degree temperatures and you've got yourself one crazy week!  I promise to post a lot more about the fun things we've been up to this summer, that will be a much longer post :)

Monday, July 4, 2011

We have made the decision to home school!

It is with a very peaceful heart that we have decided to start homeschooling Annie.  We have been thinking of it for a few years now and have decided that this is the time.  Thankfully we have also found great respite care and a wonderful tutor that loves and believes in Annie.  We have no doubt that this is the right decision for Annie and our family.  I can't wait to see how much she learns this year, we are so excited to unlock her potential!  As for school, well, its no secret that the educational system here is having financial issues, unfortunately that means less staff, more students and less funding - special education seems to be the hardest hit.  We feel blessed to be able to have home schooling as an option.  The following is Annie's "educational story".  It's been a rough road but its paved with lessons learned and we are wiser for it.


A moment in our shoes: A letter to our special education team

If you could imagine for a moment, you have a little girl, watch her grow and thrive then one day she slips away from you.  She loses her ability to ambulate, to speak, to use her hands and slowly develops an extensive list of severe health problems.  Despite all that’s been lost you look at your daughter and know that she is still the same little girl inside, but now, she’s trapped.  Your life becomes filled with doctors and testing and medicines and somewhere in all of this you remember school. 

Educators and therapists come in and see the little girl that IS, not the little girl that WAS.  You try to explain what she did, what she knew but it’s hard to put into words and it’s hard to remember and it’s very painful and fresh.  You lean on these people knowing that they are the experts and they will help you.  Slowly you realize that they aren’t sure what to do either, you enter a scary place, a place where your daughter is misunderstood. 

It’s time to send her to school.   You’re told to trust, to let go, but you have a little girl who can’t speak, can’t protest and can’t explain what happened during her day.  Your heart tells you no, your brain tells you no, but you let go anyways and leave her in the care of strangers.  You trust, you check in, you keep close contact with her teacher and therapists.  You spend your days worrying about her, learning about her disease and trying, desperately trying, to get the teachers and therapists to understand your daughter, her diagnosis and her potential.  The year comes to an end and you realize that one of your daughter’s most basic human needs has been denied for almost an entire year.  You feel anger, hurt, betrayed.  You cry for your daughters lost dignity and you wonder how in the world you can ever trust again. 

A new year, a new teacher they listen to you and say they understand your concerns. You’re told to trust, to let go, but you have a little girl who can’t speak, can’t protest and can’t explain what happened during her day.  Your heart tells you NO, your brain tells you NO, but you let go anyways and leave her in the care of strangers.  You check in more often, you keep even closer contact with her teacher and therapists.  Her teacher explains how much your daughter is learning, how smart she is, how she is moving forward in her education.  The year slips by and you find out that testing was performed on your daughter that you were unaware of.  The teacher that told you that your daughter was smart performed this test and concluded that your daughter is too disabled to be educated and should work rather on life skills.  Your heart breaks.  How could anyone count a child out at the young age of 5?  You feel anger, hurt, and betrayed.  You cry for your daughter’s hidden intelligence.  You are certain you will never trust again. 

You have meetings with people in higher places.  You stop playing “friend” and start to demand.  You are angry and make sure people know it.  You start sighting research articles and calling on medical professionals.  You are told that the next group of teachers and therapists will understand, that they are equipped to handle this type of diagnosis. You’re told to trust, again and to let go again, but you still have a little girl who can’t speak, can’t protest and can’t explain what happened during her day.  Your heart screams NO! Your brain screams NO!, but you let go anyways and leave her in the care of strangers.  You don’t trust and you make that quite clear. You make a pest of yourself, you don’t let a day go by without contact with her teacher.  You will not let THIS year slip by.  You know now that teachers and therapists don’t listen to parents, they listen to professionals.  You find a world-renowned specialist and she takes the reigns for you.  She becomes the voice for your daughter and it’s a huge weight lifted off your shoulders.  You ask for the team to meet with this specialist, she’s so busy and has taken time out to help YOUR amazing daughter.  To your dismay only 2 members of the team shows.  You hang on the hope that the 2 that are there can catch a glimpse of the potential that both you and this specialist know your daughter has.  You give up some of your fight and focus your attention.  You are bitter and doubt the team.  You are right to do so.  One therapist is giving you services but doesn’t have goals.  You explain that this is not productive or legal.  You get nowhere.  Another therapist writes goals that your daughter has already mastered.  You site 2 private therapists that prove this but she continues to claim that your daughter doesn’t have the ability to ambulate even a few steps.  The team fails you.  You aren’t allowed to see your daughter in her class because of “confidentiality” but you do anyways.  You find your daughter reading infant books (the same books she could hold, point to and say words from on her own before her sickness trapped her 5 years ago).  You find her sitting in a kiddy pool with rubber ducks.  When asked if she spends time with her typical peers you’re told she is ONLY able to do so during “specials” because that’s all she’s capable of.  During those “specials” your daughter isn’t allowed to speak (her computer doesn’t travel with her), or participate like her typical peers (a year of trips to the library and she has only been able to check out 1 book).  You feel anger, hurt, and betrayed.  You cry because your daughter has to constantly prove her worth.

You find out about meetings that are happening without your knowing - you shout about it but no one cares.  The communication device that you tried so hard to get for your daughter, the same device that outside professionals said your daughter could use and master sits in it’s bag, only a select few people have been trained on it and it’s only allowed to be used on certain occasions because of a liability issue – you shout again, but again, no one cares.   

You don’t have the money but you spend it anyways on Wrights Law conferences, meetings with lawyers and advocates.  You stop spending your days worrying about your daughter and trying to get the teachers and therapists to understand her.  You find any excuse to keep your daughter away from school and sometimes you make up excuses.  You hold on to the hope that the people on her team are really GOOD people.  That it’s the beaurocracy, the red tape, the lack of funding that is to blame for your daughters educational demise, but does it really matter?  You realize that your daughter has not learned a single thing in over 3 years and will never be properly educated in this school system.  You start to wonder if you can single handedly do what a whole team of “professionals” could not do.  You stop being angry, hurt and feeling betrayed.  You start to forgive.  You realize that staying in school will cause your daughter to regress and you can’t allow that to happen.  You take her out of the school system and pray that God will give you the strength to do all of this alone.  You continue to believe that there will soon be a day when everyone will know why you fought so hard.  One day they will see the little girl that once was trapped but now is free.  

Monday, May 30, 2011

Rett Syndrome and the "bad days"

On a good day Rett Syndrome robs my sweet daughter of her ability to walk, to talk, to use her hands, to play, to sing, to color, to dance, to run, to swim, to hug or kiss her family, to grab a drink or a snack, to have any sort of independence at all.

 And THAT is a GOOD day.

 On a bad day (or, as the case is now, a bad 2 weeks) Rett Syndrome steals all of the above but goes a step further and brings on severe anxiety, unexplained pain, exhaustion, weakness that leaves my daughter unable to hold her head up at times, tremmors, long breath holding spells, poor appetite and screaming fits that last for hours on end.

Its pretty amazing what you can get used to.  I am so past the physical limitations that Annie has, they get me down once in awhile but not often, I know what a smart, wonderful, happy little girl she is and that's really all that matters.  But when the bad days hit it's hard to stay positive.  A couple days I can deal with, I love her through and she bounces back, we are even more blessed to see that happy smile after coming through some difficulty, but when the bad days start to out number the good and I can't fix anything, I feel quite sorry for myself and my sweet daughter that has to live this day in and day out.  I try hard to hold it all together but there is no break, no time out, no time off, it's constant, it's heart wrenching, it's suffering in it's worst form - in a child.  God, bless my Annie and bring some relief quick!
I saw this on a blog that I follow (www.spelloutloud.com) and it lifted me a little today.  I'm going to print on card stock, frame it and hang it in Annie's room - It's so true, even through the bad days He know's the plans for Annie.

Friday, May 20, 2011

A video for Annie



video
This is a video created by Mr. Daltons West Middle School 8th graders.  Words can't express how this video has touched my heart.  What a gift these children have given us.  Thank  you just doesn't seem like enough. 

If you are local please consider stopping by the Barnes and Nobels in Rochester on May 26 from 7 - 8:15 - we will be handing out flyers that will allow 10% of your purchases to go directly to girl power 2 cure for rett syndrome research! 

Wednesday, May 18, 2011

Closer to Love

5 years ago today I got the phone call that changed my life forever.  "you're daughter has tested positive for Rett Syndrome".  "God NO!  Not that one!" months of testing and searching for answers left us with the most devastating neurological disorder that had already stolen much of our 16 month old daughter and the nightmare had only just begun.  Our hearts will never be the same.  God in His infinite mercy has held us every minute of every day since that phone call, even when we had no business being held.  Because of all that is lost I have greater strength, and greater thanks for the blessings that surround me.  Annie has pulled me closer to love.  One day I will have her back.  One day I will hear her voice again.  I hold on to that hope and will fight tirelessly until then.  I thank God for every day He allows me to care for one of the most perfect angels the world has ever known.  I pray for His perfect time.  We are 5 years closer to a cure today.  

Friday, May 6, 2011

Annie walking through the years

I've said it before but it definitely needs repeating, Annie is the strongest little lady I have ever known!  A typical child may learn to walk by age 1.  James learned to walk at 15 months, Gracie it was about 13 1/2 months, and our sweet, persistent Annie has not yet met that goal but is consistently making progress each and every day towards this very difficult feat.  Here is a glimpse of her accomplishments:
At 1 Year Annie was standing and holding on all by herself!



 At Age 2 Annie was able to "walk" with a toy
and eventually a walker
And we started persuing intensive therapy programs
At age 3 Annie started using the theratog suit
 We continued to work relentlessly on Annie's walking:
 She had good days
 

And hard days

At age 4 we were able to fund intensive therapy and started the universal exercise unit and therasuit which helped Annie gain much needed skills and some pretty substantial muscle tone:
We then started the Lokomat - an intensive therapy that helped Annie start to bend her knees and gain stamina:
At age 5 Annie was able to get out of her chair and walk with assistance around a public place (like Chuck E Cheese!)
Annie continued to work on transitions and walking weekly during physical therapy at Beaumont.
We held Annie when she needed to be held,
and pushed her when she needed to be in her chair,
and helped her up when she wanted to be on her feet,
We will continue to cheer her efforts to walking independently but we will NEVER be too far to lend a hand whenever she needs someone to lean on!  


2011 Annie is now 6 years old, she is back on the Lokomat and will start another round of intensive therapy using the universal exercise unit in July.
Here is Annie walking today!

Annie we love you so much and have been blessed to be a part of your road to independence.  We pray and believe that you will be walking on your own soon but if that is not what God has planned we will spend the rest of our lives happily guiding you on the path that is chosen for you.  We love you beyond measure!  Daddy, Mommy, James and Gracie! 
but those who hope in the LORD will renew their strength. They will soar on wings like eagles; they will run and not grow weary, they will walk and not be faint.  Isaiah 4o:31