Its been a long time!

Its been a really long time since I've posted. I guess I've been busy. I'm sure tons changed in the past year but I thought it time to let all the Makayla fans know that she's doing well. Growing like a weed and swimming like a fish, and remaining an undefeated thumb war champion!

Last September she was officially diagnosed after 7 and half years of testing. Makayla has an extremely rare genetic disorder called CTNNB1 happloinsufficiency. Yup its a big word!! Makayla is the 6th case in the entire world and the first in North America. Thats some special little girl, and uniqueness at its finest! There isn't very much information on this disorder, and it will probably take science a long time to catch up but a massive phase in our lives is over. No more wondering, no more tests, no more waiting for tests! I think its taken me this long to update because it was such a shock and then followed by a long roller coaster of some weird grief/acceptance cycle. Closure to the mystery, but letting go of the ounce of hope that there would be a magic pill to cure her, a magic wand to make it better. I guess part of me slightly believed that when we finally figured it out, all we would need to do is fix it. It seems that its not an easy task to fix something that effects every cell of your body. So there went that idea. The disorder is not fatal but progressive in nature to what they can tell. Progressive spasticity and scoliosis after puberty. However again with only 6 people ever, they really don't know.

For Makayla we don't know what the case will be, but we do know that she's awesome! She's on new seizure meds that have made a huge difference!! She has had an amazing year learning at school, learning to use a communication device, learning to walk, learning to be a comedian, learning that life can give her lemons but she's going to teach the world to make lemonade.

Thats it for now, but I won't wait so long to update again. Enjoy your summer!

When you least expect it HOPE reigns supreme!!!

It has been a loooong time since my last blog. I suppose I needed a break to focus on survival through the summer months as Makayla was in and out of hospital numerous times with various gtube infections and recurring throat infections. It was difficult and exhausting and really not worthy of blogging. However after what I consider an epic achievement in surviving summer we were greeted with a very pleasant September and the blessing of full day school!!!!!!!!!!!!!!!! Don't get me wrong people I love spending loads of quality time with my girlie but she was just as sick of me as I was of trying to find entertainment and endless amounts of energy to keep up with her needs!!

SOOOOO September 3rd the bus shows up and whisks her off to a regular school for the first time in her life. In previous years this was a stressful moment but this year it was a small cause for celebration, dancing and a massive sigh of relief!! Looking back over the last 6 and a half years I can recall numerous times when I pep talked myself into believing that all I had to do was make it to this moment!! Give me a challenge and I suppose this is where I thrive best! Through the trials of 6 years of health problems, doctors appointments, tests, more tests, and more tests I think I switched fully into survival mode which is I think exactly what I needed to do but this week.... HOPE reigns supreme!!

After 2 months of school where Makayla gets tons of hands on help, tons of new vitamins and supplements and med changes, and mostly tons of epic proportions of Makaylas sudden eagerness to learn, communicate, and walk we are experiencing gains in massive strides. Makyala took 39 steps independently in a row last week!! Here is a moment I say that I believe it was so worth it. I am a proud mama to say the least, and filled with joy in abundance watching the pride that covers Makaylas face!!! And at the sake of sounding cheesy... YOU GO GIRL!!!!!!!!!! If this is not a story of determination and inspiration I just don't know what is! Today I believe fully that all things are possible and faith should never be taken for granted!! Today is a great day so doing something great with it!

Finally an answer

Early December Makayla had a esophagus and stomach biopsy done. For those that follow Makaylas journey know that she has had many many tests done over her little 5 and half years and almost all have come back empty handed with answers. She has battled some sort of mysterious pain for a very very long time, perhaps even her whole life and last May was able to finally point to the area that was causing her so much distress which was her throat. She has been treated for esophageal spasm simply on a guess from her wonderful neurologist. However last spring the medication seemed to be losing its effect leaving Makayla in more distress than ever. So after much debate I persistence on my part with several of her specialists we decided to go ahead with the biopsy even though they felt the scope done in July looked normal to the surgeon.

The biopsy showed severe eosinpillic esophogitis meaning that her body was having a latent allergic response to things she was swallowing and the white blood cells were and are attacking the lining of her esophagus causing severe pain, difficulty swallowing, drooling, spasms and structural damage. The doctor said you could relate it asthma of the esophagus. Finally an answer to tell the doctors that no I am not just a crazy paranoid mother of a daughter who simply needs psychiatric medication. This disorder is rare about 1 in 10,000 and is not associated with any of Makaylas other disorders. So she was tested for 40 food allergies by having me puree them and then they were taped to her back and left there for 48 hours ( not a pleasant experience.) Turns out she is allergic to many of the things that she ate on a very regular basis. The list so far is green beans, Mango, peanuts, pineapple, asparagus, carrots, chicken, blueberries, fish, corn, bananas, and latex.

To help undue the damage and take out the inflammation she is now on steroids twice a day and is being fed a very large percentage of an amino acid based formula through her gtube.  We were told that this disorder is very difficult to treat but if the steroids work we could see a huge improvement in Makaylas demeanor and quality of life. Unfortunately the change to formula caused Makayla severe constipation that ended us up in Mcmaster Hospital for 6 days. 5 Enemas and 3 large doses of medication finally got things moving but through all this the poor girl spiked a high grade fever and gave us all a massive scare!!

Finally we are home and she is unclogged and we are slowly getting use to making formula 4 times a day and following her around with her pump! We are still holding our breath that all these massive changes will be worth it. IT comes however with a great sadness as Makayla loved to eat and I would say it was one of her greatest pleasures so to take that away has been another emotional journey that will probably last a long time if not for ever. This disorder is not like other allergies that often disappear after a few years, this one lasts forever. However on a positive note perhaps she will feel better than she has in a long time physically if not ever. Here's to hope!

Diagnosis- The list

At an appointment a few months ago I was given a 2 page summary of how the medical world sees Makayla. It was interesting to me because as time goes on you become numb to the labels that are placed on your special needs child. For us the journey has been filled with nothing more then the best guesses of some of the greatest pediatric medical minds within reach. However, when I see the list of what her doctors consider her medical diagnosis it makes me realize how long the road has been in such a short time. Written words are not as easy to bounce off the depths of a parents soul as spoken words for some strange reason. I prefer to bounce things off, it is how I cope. For reason it makes hope seem so much more bright and alive. Hope always remains alive within me but there are days the light is dimmer.

I don't really know why I blog, I guess part of me hopes that when others read it, something will resonate within them. Whether it is the feeling that they are not alone. Or whether it can help to instill empathy and compassion in a world all to void of such things. Or perhaps Makaylas journey itself can inspire those without disability to count their blessings, and be motivated by her unending strength. Perhaps when heartache and triumph are written they will be less easy to ignore.

Makaylas first diagnoses was when she was 8 months old,  Cerebral palsy, spastic quadriplegia.  Now there is a mouth full for a new mother. Her second diagnosis was Global developmental delay with language regression at about age 2. Localization related epilepsy shortly there after. Soon after came Failure to thrive. Next was Esophageal spasms at 3 and half years of age. Late spring we added G-tube insertion from silent aspiration, and most recently clinical Angelman syndrome.

So many times I have thought, well who cares what their best guesses are, who cares what labels they give her, she is still Makayla, a hilarious trooper!! I stand by the fact that it doesn't matter what it's called but what helps is knowing that maybe there is power in numbers. The Angelman community I have recently joined is fierce and supportive. I am grateful at this moment for one more label because for the first time I realize their are so many other quirky complex kids and we are not alone. It may not matter what the labels are but what I can finally admit is that having a support system does, and I am grateful and for today hope is bright!

Surgery!

It has taken me a long time to write this update as our experience this summer has been somewhat awful and I felt bad to write such a negative blog. The truth is that due to extraordinary pain of some sort we took Makayla to the emerge department on July 19th, we were admitted that night in hopes to get her into surgery faster! We stayed in a room of 4 patients, one of which was a little boy who threw up all night long, I can not even begin to tell you how tired and stressful this was. McMaster ( a well known children's hospital) has 2 cribs with tents over them to keep kids like Makayla safe while parents have to do things like well pee! One of these beds were taken and the other missing parts! Really?? So she slept in a regular bed where I feared at any moment she would wake up and dive out of onto the floor. How does one sleep when this is a very real possibility. Well you don't! If I had a car there i would have thrown the towel in right their and then, a screaming Makayla who had been awaken by barfing boy and a ridiculous amount of heart burn was enough to send anyone running to the hills!

However I stayed, the next day was zombie like for all of us. They had an IV started and put Makaylas name on the list for surgeries for the weekend. There was no guarantee she wouldn't get bumped but we were now committed in hopes that the g tube would somehow relieve some discomfort. Many, Many doctors visited us that day and we regurgitated the stories leading us there countless times. After  supper Mak had to start fasting in case she went into surgery the following day. The GI doctor said it wasn't going to happen, she having very little interest in Makayla made my blood boil but I'll save that for another day.

The next day July 21st at 3 o'clock Makayla was put under and had her gtube put in. The procedure was quick! Mak had not eaten anything for nearly 24 hours now, and was not allowed to eat anything for another 24 hours. Yikes! My girlie was a trooper though and seemed to be content to rest for the rest of that evening, ( I guess sedation can even make a monster tired).  The doctors said her recovery would be 3 days before we went home, and thankfully we were now in a room with only one other kid. ( The kid with the covered crib, Why I outta.....) Unfortunately her recovery took 8 days because she continued to have extremely painful episodes that no one could figure out. She wasn't able to eat for days, and eating a small amount of apple sauce or jello caused horrible stomach spasms,  (where was the GI doc you may ask, well that is a great question!) The episodes were so intense I think we may have even scarred some nurses!

After running a few tests later the next week they gave up and sent us home, with  a girl who still had sudden horribly painful episodes numerous times a day. They gave us ativan to at least help her cope. The following 5 weeks of summer remained difficult, her fits became nearly unbearable to watch and impossible to comfort. When everyone was out enjoying the last weeks of a beautiful summer we were hoping to just survive each day. With a week left before school started Mak broke out in a rash and spiked a fever and couldn't keep her feeds down ( did I mention through all this I had to learn to use a feed pump and clean it, blah blah blah, we tried night feeds which constantly woke her up, it has now come to the point where mostly I syringe liquids into her tube, every 30 minutes all day every day.) Anywho,  I had her throat swabbed and 5 days later they called to tell me she had strep throat, ( 5 days, Really???)

So ten days on antibiotics to clear that up, in the meant time we had stated a new seizure med in hopes to back off another because we wondered if that med was causing some of the issues but after 2 weeks they had made Makayla without any other appropriate word 'psychotic'. Therefore we stopped that cold turkey and we are now trying another drug, an antipsychotic. ( Not a drug title any mother ever wants to talk about their child being on, I don't care how you wrap it!) however knock on some heavy duty wood I think it's helping.... stay tuned.

Beep Beep!!

Well here is a super overdue update! After lots and lots of paper work and phone calls we were able to get a wheel chair van !!! Here is a picture of the little misses being super excited to have driven all the way to London to pick it up!! Pretty much sums up how I felt too! I would have thought I would have been totally stoked to get a brand new van which was over 50 percent funded by awesome charities ( thank you president choice, march of dimes and easter seals) but it was a feeling or realization that yup its official my 5 year old can't walk.  Picking up a disability van for your 5 year old is certainly bittersweet. Sure I'm thrilled my back wont give out as soon as it would have but I never in all my dreams saw myself driving around my kid in a wheelchair van before I turned 30! Ugh I'm a soccer mom with only one kid that can't play soccer!! Nothing like trading in my fast Nissan altima for that!!

However, since using the van the last couple months I gotta admit I am incredibly thankful!! It is so much easier to go places now!! So many less transfers and winces of back pain! Wheelchairs are not light in case you were wondering, particularly when trying to squeeze it in the trunk of that uber fast Nissan! So there it is, our sweet new ride that has taught me how to park with extra care, and taught me to refrain from using my middle finger when that idiot parks to close to me to get the damn ramp out!! Oh yes feel free to park over the line of the wheelchair spot with your car mr, not like I have to get a wheelchair in and out of this wheelchair van!!! I suppose it gives me a whole new appreciation for super wide parking spots!!

Well thats it for now!! BEEP BEEP!!

2 steps forward and 9 steps back

MMMMMMM icing!!!!!!!! Now here is a girl who enjoys the good things in life... that's right .....FOOD!!!!!!!!!!!! I have spent the last 5 years literally obsessing over getting Makayla to eat. She was diagnosed with the term failure to thrive at 10 months of age and from then on I set out on a mission to get lots of healthy calories into the girl. This literally was an all day event, every day, and let me tell you for every bit of food she ate she quadrupled in amount for me to clean up! No shirt ever survived!! Whats that you say, why didn't I get her to wear a bib, well perhaps you haven't heard the term sensory disorder! Makayla felt about bibs (form day 1) like I feel about sleeping in a bed of snakes! Dear God I will now have nightmares just for having written that!!  Any who..... I take some serious pride and self patting on the back for unending efforts to make her gain weight through all other challenges of her difficult path. She now eats an entirely gluten and casein free diet and has shown marked improvement in behaviour and attention span which is enough for me never to turn back. A treat for Makayla is some delicious ginger-ale!! There is just something about fizzy sugar water that makes this girls eyes light up and legs kick in excited anticipation of that first guzzle!!! Unfortunately often the guzzle is followed by some choking which signals me to say in a silly voice "wrong tube" followed by a now slightly red eyed girl smiling at her kooky mothers expression!

There had been talk about maybe Makayla needing a swallowing assessment done, but different reasons ( slew of other appointments, tests, and life) and not much concern over the issues it never happened. However one month ago, Makayla became irritable and began pointing, and pulling at her throat, then after spiking a fever and becoming lethargic we took her to emerge at McMaster where they gave her a chest and throat x ray and made a referral for her to have a swallowing and upper gastrointestinal study done. Last week she had the first test done where she had xrays taken while she ate and drank with barium mixed into her food and drinks. Honestly the test took so long to get started Mak was for once happy to actually cooperate because she was so hungry!! I had very little expectation of them finding anything as I suppose I can contribute this to the ridiculous amount of tests that she has had and all caming out with absolutely no helpful results. However for once when I was least expecting it their was obvious aspiration taking place. That's right every time Makayla took a drink part of the liquid went  down her airway (wrong tube) and straight into her lungs ( wrong organ). The odd thing is Makyala did not cough or choke once during the test meaning she was silently aspirating, the scariest type of all because there was no way of knowing. So the lovely OT tried thickening the liquids with worsening of symptoms and then a little thicker with worsening again. Often thickening of the liquids solves the problem! But that was not the case, so what next then you may ask. Makayla's name was put an urgent list for surgery to have a GI tube put in. A tube literally sticking out of her stomach where she then will receive all future liquids in hopes to minimize damage already done to the lungs. Talk about SHOCKER!

At this point she will be able to continue to eat solid food but will be closely followed by a team of doctors in case anything changes. She may also have to undergo further testing to see if she is having problems with severe reflux as aspirating reflux is detrimental to the lining of the lungs. The news has been hard for us to hear and sad for us to accept, not just because she has to have surgery and will now have to deal with the care for another medical issue but because she has been suffering for a long time, possibly her entire life and unable to tell us! We are lucky that she never got pneumonia (possibly a small miracle unto itself) or a chest infection she was not able to recover from because her lungs were to tired from working overtime for so many years. We hope that this will lead Makayla into a new phase of life where she will be able to thrive a little more because all of those precious calories will be going to the right place! Now here we go down another road full of bumpy rocks! So next you sit back and enjoy a ginger ale kick your legs a little for Mak who has sipped her last sip of the good stuff! Until next time say a little prayer for us!

Unanswered 5

Well the last  I wrote we were waiting for some scary test results for Makayla to find out if she had some progressive disorders. I realized that waiting to hear if your child's dying is something most parents will never have to endure. I have had to do this numerous times, will this time be the last? I really don't know, because officially AGAIN the Doctors have no idea why Mak is the way she is? Thats right, all results were negative!! Obviously this is great news however I found myself for the first time simply annoyed at the years that have gone by, the tests that have been done, the tears that have been shed, the googling that occurred, the STRESS that coursed through me, has all been for what seems like nothing!! Spinal taps, muscle and skin biopsies, numerous MRIs and EEGs, a butt load of blood work, urine samples, all done in tears and agony and all producing the same results of we don't know!! I know butt load seems like a very uneducated description but seriously the thought of all the damn needles just annoys me to the point of childish like tantrums and phrases like butt load!

The strangest moment I had in these final results is that for the first time in 5 years I officially allowed myself to acknowledge that this disability is forever. Don't for a second think that a disability only affects Makayla but it changes everything for everyone in our family. Great amounts of sacrifice have had to be made, and will continue to have to be made FOREVER! That's the word that got me so hard this time, FOREVER! I am going to be depressing for one moment and here it is: I may never have a conversation with Makayla, I may never walk hand and hand with her, I may never see her get married, I may never have an end to changing diapers (UGH), and I will never experience the empty nest syndrome!!  I realize that all you cliche people want to pick up the phone and tell me that all things happen for a reason, and God doesn't give me more than I can handle, and blah blah blah, I KNOW but I am sad and a little scared of the life I have been given and the long hard road it will be!! YES I will make the best of it and yes Mak is totally blessed to have such an awesome mom!! ;) Its just that sometimes forever sounds really long!

I have many girlfriends who have special needs kids and they have had weird conversations about when their kids hit puberty and things like this,  my participation in the conversation was putting my fingers in my ears and saying 'la la la' like a 3 year old. I wasn't even being funny, I was totally serious! I guess that's the denial they talk about in the grieving process! Denial......check!

So now that I've dealt with that I'll throw in some super optimism for ya! Makayla turned 5 years old on Monday!! She has come a very long way in the last year, particularly in the last 2 months. I had last blogged about all the supplements I had started her on and how I thought they were helping, well I am happy to report that she continues to make gains more than ever before! She is now on a gluten and casein free diet and boy what a difference!! She is happier, and way more engaged! She is also now saying 4 syllables, including saying 'bye'! The other day when the dietician was leaving, I almost fell over but instead I just jumped around and a had a little party all by myself! Ahh its the little things!!! I suppose that's the good part of every test being negative is that Makayla will not be defined by what others have achieved or not achieved but rather anything is possible!! I guess this is the beginning of acceptance!! 

2 notes!

     So you may have noticed that I haven't blogged in quite some time. I do much better in retrospect rather than during the midst of the storm. I guess I need time to digest all that takes place before divulging all my feelings to others. We have been waiting for many many test back since July if you recall. Most were normal but a couple things were a bit strange! The genetics we are in involved in now are so complicated so I will give you the short form. Makayla has a high level of lactic acid in her blood, what does it mean exactly, I don't know. She also has a high ratio of VLCFA of the C22/C26.     ( told ya it was complicated) So we have done more blood work, another 6 tubes! ( that's right 12 tubes from July just wasn't enough!) They are rechecking both levels again to make sure it wasn't just a fluke, but also testing for the related gene disorders and diseases. Makayla fits a lot of the profile of a number of disorders linked to the POLG gene sequence ( Alpers disease) as well as rare mitochondrial disorders ( Batten Disease). Keeping in mind that this is not the first time something has been strange in the midst of blood and urine testing, we wait patiently for what could be life altering news. To top off the stress of this torturing wait next week Makayla will undergo her second sedated MRI and an Echocardiogram at Mcmaster. (Your prayers are always appreciated.) And because that's just not bad enough she is way over due for new splints which means new casts which means an hour of torture for both her and I. ( I curse at the very thought.), ( no not out loud mother)!!!

      However on a second note!! I have been in contact with someone who specializes in fatty acid supplementation! Through a strange twist of fate or by the awesome hand of God, I received his brochure and decided to give him a call. he seemed very knowledgeable on the subject to the point of describing many of the symptoms of Makayla and even the background of our family. ( I was really intrigued after speaking with him and set out on a mission to immediately get every supplement he recommended!) He did this all for free might I add! In the meantime I also had started dealing with depression and exhaustion, so I also started taking what he suggested. I can honestly say that it has been almost 3 weeks, and I feel so much better, but better yet Makayla is doing really well. In just the last 4 days she has begun to say 'Mama', again, and sign please, yes, and more again!!! She also just seems more with it, following some direction and taking turns with me! She is also clapping like a maniac again ( something we hadn't seen in over a year!) AWESOME!!!! We played a funny game we made up today and for the first time she totally understood it and we both laughed endlessly over taking turns! ( when I ask her what a baby says she will say 'googoogaga', the greatest sound!) Her babbling is much more creative with syllables, and her ability to sit and play in one area is lasting more than 4.6 seconds! For the first time in what feels like forever I feel truly HOPEFUL regardless of anything else. That;s it for now folks, stay tuned!!

A rusted white bus

Its been a long time since my last blog, I suppose time really does fly when your having fun! Makayla started JK in September. I stressed all summer about how this was going to be. I feared her  screaming as I strapped her into her wheel chair and having an anxiety attack while the bus driver pulled away. However summer was hot and Makayla doesn't do well in the heat. Soooo as the school year quickly approached I was ready to wave goodbye regardless of the protests! Now here's the kicker, its the little things in the special needs world that make you go well that just sucks!I had one of these moments on the first day of school when we were patiently waiting for our cute yellow school bus that we had toured the week earlier. Suddenly a short rusted white bus came to stop out side our house! I was devastated!!! As if its not bad enough that I have to wheel my kid onto the short bus for her first day of school but the damn thing isn't even yellow, and rust??? Really???? I was sad and angry and worse of all the dreaded harness had to be put on now! (I'd like to think of myself as a steel wall in the emotional realm but my eyes weld up with tears) suddenly I realized that perhaps all this time of stressing about how Makayla was going to react to this new period of her life was really panic of how I was going to react!!!!! Aghhhh!!!!! Funny how things work however cause before I knew it she was gone on a short white rusted school bus with perfect strangers! But wait a minute I could hear something I hadn't heard in a very, very long time.... silence! Ahhhhh peace and quiet and a bath calling my name! It was there and then I knew that I would be just fine!

Makayla turned out to love her first day of school and every day since for that matter (knock on wood). She is happier than she has ever been, and a happy monster makes for a happy mama, and there is something kinda funny about just how much I love that rusty old school bus now!

On a quick health update from the 12 tubes of blood, so far everything is normal and it could take up till Christmas to have all of the results in. I have been anxious up until now to get them but suddenly have realized it simply won't change anything, so for now Im just gonna enjoy the silence a little every day!

Monster mash and 12 tubes of blood!

Well the monster mash has come and gone! I am happy to say it was a success! We raised enough money to purchase the things on our wish list and then some, and I would like to think that everyone had fun. I am thrilled by all the people that helped out and that showed up, but have to admit was surprised by the people who didn't! It's an ongoing theme on this journey of the people who you hoped and thought would be there and aren't, Saturday was no exception. I fully realize that the people who were there are those that matter, but I continue to be surprised by the proportion of nearly strangers to family and friends. I haven't been able to fully understand this as of yet, but perhaps there will be meaning in it someday.

On Monday Makayla finally had an appointment with a geneticist,I was looking forward to this appointment simply because sometimes all it takes in my opinion is a pair of fresh eyes. In my mind I felt this was the last kick at the can in figuring out why Makayla is the the way she is. She does have a diagnosis of Cerebral Palsy, but this is more for the sake of paper work and resources. Makayla does not fit into a typical classification of CP, she has spasticity but more dynamic tone, mixed with episodes of low tone! It's complicated, the point is that people who have Cerebral Palsy have spastic tone that doesn't change. It is what it is. However all specialists who have sought after a proper diagnosis have failed and then moved on. I was relieved after the last batch of tests came back negative cause it was the last of the waiting, the last of the poking, the last of googling of crazy disorders and getting totally freaked out! I was at peace and acceptance that Makayla was who she was, and it was time to move on, no fixing her, no figuring out why, just living life.

The geneticist was so nice, so patient, and so sincere, ( a rare quality in a very busy specialist). She spent an hour with me, asking me questions, looking through Mak's records. She said 'that  little girl should have never waited this long to see me, I have seen enough children with cerebral palsy and she isn't one of them.' Perhaps i knew all of that but hearing it come out of her mouth was a huge wave of differing emotions. So here we go again! A very long list of genetic disorders, metabolic conditions, etc. 12 tubes of blood, 3 bottles of urine, a whole crap load of screaming, and a few days of exhaustion, and finally the wait! Yep right back to the racing heart for no reason, the restless sleeps regardless of how tired I am, the googling just to make myself crazy! Ugh! Her we go again!

Monster Mash!!!!!!!

Monsters Glamour Shot!

Days can seem long, weeks can seem endless, and years seem to fly by! There have been moments over the last 4 years when I doubted my ability to survive the day, there have been circumstances so tough I wanted nothing more than to quit, but when I look at this picture I know that somehow it was all worth it. Makayla's Journey has been unique and exhausting but here is what I have learned.

The people I thought would be there the most.... are not! I am just beginning to realize that perhaps it is not because they didn't want to be, but more because they didn't know how. People I did not know a short time ago are here because they know the pain so well, here in lies a bond not many will ever share, and I could never express how grateful I am for it. People I have never met....care, and blessings are disguised in the strangest of ways!

Next Saturday, July 23rd will be our first Monster Mash! A fundraiser for our little Makayla! We hope to give her the best life she deserves by getting her all things that will allow her to be a kid regardless the cost. Most parents buy their kids a bike for a hundred bucks, hers will cost fifteen hundred! Most parents buy a potty for twenty bucks, hers will cost 900. Most kids can go to any park and swing all day if they wanted, Mak can't and probably never will. A specially adapted swing $700. The lists go on and on and therefore MONSTER MASH! 

However I have found this asking for help thing to be very difficult, I have a  little problem with pride and control so allowing others in to help is way out of my comfort zone but it has allowed me to see some good in the world again. I had started to become hard and bitter, let's be honest it isn't easy watching every other mother walk hand in hand with their kid and talk about why God made flowers. Since deciding to plan this event people I have never met have offered to help in a whole bunch of different ways. It's been pretty awesome! So to all you kind hearted people that do exist, thank you! It couldn't have come at a better time! 

4 years old and some spontaneous pain!

Well Miss Makayla is officially 4 years old. Where does the time go? I remember when she first got diagnosed and I said everything in terms of  ' oh by the time she's 5.....' well now that's only a year away!  Wow! I suppose all my hopes and ideas for how far along Mak would be by the time she turned 5 may not be met but my how far we have come. Her therapist ( one of many) said to me the other day, Makayla is one complex little girl! Boy I thought now there is an understatement! This same therapist told me the other day that she felt Makayla had  a couple of seizures that morning, she described this behaviour as Mak being very happy in an activity when suddenly she shrieked and her arms trembled leaving her irritated and unable to focus. Hmmm I thought, this sounds very similar to what I had been experiencing during the last few nights, I had taken some video just to show the unbelievable pitch of screaming that came out of a sleeping child. I had presumed pain, perhaps some sort of muscle cramping,   I also had seen her do it a few mornings earlier to the point of me taking her to the walk in clinic to have her ears and throat checked, ( she was pulling on her ears as if she hoped to pull them right off, cycled with biting her own wrists in what I can only guess as a behaviour to numb the pain!) Not much phases me after all I have experienced but to truly think about this, a pain must be pretty unbearable that biting your self repeatedly feels comforting,( this very thought saddens me beyond words that no amount of nurturing and love I have can soothe the pain).

After being instructed to send the neurologist a videoed episode of the torment this poor peanut experiences on an increasingly regular basis I finally caught what I needed. Today the Doctor replied that he felt strongly that these episodes were not seizure activity but rather a very rare form of spontaneous pain more particularly esophageal spasm that occurs in rare cases of infants and children with neurological disorders. The pain is sudden for unexplained reasons and is similar to that of the pain of someone having a heart attack. So his nurse sends me an article to read entitled infants and children with mental retardation suffering from paradoxyl blah blah blah. WORST TITLE EVER!!!! What parent would ever want to read something titled anything like that about their kid? Well I read it intently, and boy did the case study ever embody Makayla. Ugh!

Well the good news is no new anti seizure meds, ( thank the Lord!) There is medication that seems to slow the spasming down so starting on Monday we embark on a hopeful mission to end what most likely has been a 4 year mystery journey of pain for our monster. May there be peace at the end of the new medication rainbow!!!!!!

Stuff

It's wild the amount of stuff kids with physical disabilities need. Makayla currently uses a wheelchair at school, and an  enclosed walker (finally). At home we have a wheelchair stroller, and 2 walkers which were awesomely given to Mak by little friends of hers who are now running around (a little shout out to JP and Aurora)! We keep one in the basement for practicing but it seems to be a bit heavy yet for her to really enjoy using, and one that we keep by the door for outside and going places. I have just realized that the only way I can take both wheelchair and walker is if Daddy rides on the roof. (Not super practical) Not only is there a lot of stuff that takes up a lot of room but the chairs are so heavy. I am so not complaining It's just the little things that typical parents wouldn't think of. I am super thankful that we now have a wheelchair ramp going into the house, it has made life for our backs quite a lot better!! Next I am considering a teleporting machine!!! Any thoughts?? Now don't forget her AFO's or foot braces, and theratogs she wears with cable twisters to straighten her legs. Somedays it just seems like an awful lot of stuff to worry about and take care of.

Lastly, this week Mak had another appointment at McMaster with an eye specialist. She needs glasses!! Now to many this doesn't seem like a very big deal, and considering all we have been through you are quite right, but I was so upset by this news. It's funny the things that seem to throw you over the edge. I didn't cry when we filled out forms for a wheelchair, or walker, but eye glasses!!! It's not that it's a big deal, it's just one more thing! One more expense, one more thing to take care of, one more thing that Makayla NEEDS! I was sad to think that she has trouble seeing, as if trouble walking and talking isn't enough. And let's be honest here people how do you teach a monster to keep her glasses on her face and out of her mouth?? Makayla eats any and all inedible objects, it's what she lives for!! Ugh! It's simply one more thing! I realize Makayla will look sooooo cute, thats totally stating the obvious!! :)

A little story about a yellow walker

Today is a day of happiness. Makayla was given a new walker last week by a little friend of hers.( thank you) For some reason Makayla loves this walker!!! We have tried many and I do mean many different walkers over the last year. Most were seen as 'EVIL' for reasons I also do not know. I think a huge part of it is a sudden increase in awareness, but only Mak really knows. The point is this little yellow walker is totally awesome to Makayla so lets go with it. Over the last week I have been working with Mak to walk across the living room maybe 8 feet. Today I decided to take it to school and Mak walked from the car to the building and than down a very long hallway and than all the way back. She was so excited that she just wanted to keep going!! It was so amazing.

The challenge has been the fact that Makayla would not hold onto the handles of anything for any length of time. She loves to have her hand in her mouth or hold onto a favourite toy ( typically Buzz the bee!) She seemed to have no awareness for her safety and this caused some serious issues with trying to get anywhere with her walkers. But today she held on, she held on and she just went for it. Awesome is the word, simply awesome! and yes I have witnesses!!!

Why its so exciting? Well because as many parents of special needs kids will tell you the hardship is the extreme slowness of progress. There are days/ weeks/months/ years  that simply seem to go nowhere. All the effort of therapy and appointments and hard work on our part seem to be pointless at times. However than out of nowhere they make a huge gain! Today was that day!!

Some people say never, some say maybe, some say some day, Makayla said today!

Parents get to brag about their kids all the time, I never have gotten that! Until today! My Makayla has Cerebral Palsy and walked over 50 feet today with her little yellow walker!! Yeah Mak!

Things that make me cringe!

Makayla has taken up a new hobby! She likes to stick her hand down her throat and make herself throw up!! Why on earth is she doing this?? Well over the last month Makayla endured a chain of unfortunate events! She got the flu which caused some awful vomiting, which than turned into quite an ear infection which caused her little body not to keep anything down, which than lead to dehydration which sent us on a trip to the hospital. Luckily after some intravenous drugs, and lots of fluids through her IV we went home. Than a whole crap load of antibiotics! (crap load is my technical term) Somewhere in this mess of sickness Makayla got some strange idea that hey this whole puking thing is kinda interesting!! So here we are dealing with a new problem and a heck of a lot of laundry!!

Why this makes me cringe besides the obvious! Well Mak is already underweight, and lost almost 2 pounds while being sick, which is a lot on a mini person, and because of her high muscle tone she burns nearly 5 times as many calories as a typical kid. So if she keeps up this habit how on earth is she going to gain weight!!? Next is the effects of stomach bile (this  stuff is designed to literally breakdown food!). Imagine what it does to one's esophagus lining, tooth enamel, and gums! (I would like to insert curse word her but will refrain) Did you know that a bulimic's teeth are completely rotten?

What to do? Well mr. google found no magical answer, just a few other parents seeking advice! Her therapists and teachers are at a loss! So now we wait for a behavioural therapist! Who knows how long that list is. In the meantime LAUNDRY!!

Results and words

The results came back last week! I am happy to say that everything is negative! Makayla does not have any progressive or fatal mitochondrial diseases that they can tell at this time! What a relief! Now when I first read the letter I was relieved but oddly I found myself very annoyed as well. I felt like I had wasted so much energy and time not only my going through the whole procedure but also worrying about what may be! It took me about a week to actually feel the real weight lift off of my shoulders! We can move forward now accepting that Makayla is just Makayla. She is made uniquely and wonderfully! It may have been nice to have some sort of scientific and medical answers but I would rather no answers ever if the answers were worse than the unknown! With the unknown there are no boundaries, no limits to how much she can achieve!  Every day may be a challenge but every achievement however small or grand we will see as a gift perhaps even a a miracle.

"Serenity is not freedom from the storm but rather peace within the storm."

Over the last couple of weeks the silence was broken!!! Makayla is now saying 'Mama, Dada, Bob, bear, and yeah!' She is also finally waving bye bye and consistently saying please to ask for what she wants! Though the last weeks she has been sick and the days have seemed somewhat endless with fevers, and frustration, I feel there is light at the end of the tunnel every time I hear that tiny voice I have waited so long to hear! Ahhh serenity now!!

Year 4 so far

Year 4 held a lot less drama! (thank God)...... Makayla is not what I would consider coordinated and she has had some issues with cracking her teeth, and probably from a combination of her bodies crappy job at using nutrients and the fact that Makayla loves to eat any and all inedible objects, her teeth have paid the price this year. After knocking out the lower half of her 2 front teeth and the wait list for kids like her having been an entire year to have work done poor little Mak had to have the remainder of those teeth pulled out cause they were causing her so much darn grief. Now there is a sight, 3 grown adults holding a 28 pound mini person down in order to literally yank her teeth out ( barf). Thats right people she was wide awake 1, 2, 3 ... go!! I figured you were all wondering why that beautiful little smile was missing a few pearly whites!! Mak than chipped another and finally the hospital found her a spot to have it fixed along with a cavity!!! Most kids go in and say "ahhhhhh" to have a couple cavities filled, but not our Mickey Moo she has to go to the hospital for a day surgery procedure and be gassed asleep in an operating room. ( nothing like lying your 3 year old down on a steel table with a room full of strangers, watching as she loses consciousness and than walking away!!) However this is how it seems to go for Makayla!!!

Next came our neuromuscular specialist, who specializes in diagnosing rare diseases. Since Makayla's speech never came back, she is considered to have regressed. Regression is NOT a part of Cerebral Palsy. So he suggested that we do a new MRI which we are currently still waiting for seeing how the waitlist at Mcmaster can take up to 2 years. He also suggested we have a muscle and skin biopsy done to check for mitochondrial diseases ( I am often flabbergasted at the lists of diseases and disorders that exist in this world, one's that are next to impossible to pronounce) Anyways 8 weeks ago tomorrow we headed to McMaster hospital again to have this procedure done. At this point we have been getting use to the whole battle of the IV but what happened next was an absolute shocker for us! The sedation medicine used caused a strange reaction in Makayla's muscles unlike anything I had ever scene or ever hope to see again. Her entire body went into myoclonic spasm, she could barely breath and her eyes were bulging ( she was scared to death and so were we) the nurse held her jaw open so to keep her airway open  but after a minute or two it had not subsided. Next came a similar drug to what she takes at night to calm everything down. It worked and she relaxed but not before scarring us for life! The doctor than cut out a small chunk of muscle and skin and stitched up her leg. We are currently waiting for these results and it is not an easy wait.

Year 3.....continued

Makayla was transferred to a hospital in Orillia to be watched by her developmental paediatrician. We were there for a few days and then finally sent home! A couple of weeks later 911 again! Repetitive story thus far! However this time Mak was diagnosed with a UTI and we were admitted to Mcmaster hospital for another few days this time her bout of unconsciousness was followed by a very livid little monster! Here is where the doc in the emerge said 'why is she taking so many meds' a story I repeated many many times that day to many different doctors. During this stay we met Dr meaney!! that really is his name! However he is the nicest neurologist I have met. It was figured that the amount of muscle relaxant she was on had caused her bladder to retain urine and this causing the infection, than putting the body under so much stress causing it to seize. ( who really knows) Here Mak had her first EEG, which results didn't say much. Dr Meaney listened to me about the jerks Makayla had been experience since birth, he prescribed a new drug to deal directly with this problem something every other dr neglected. So we started weening her off of her anti seizure med and started her on her new ones. Makayla had other plans, she went off her meds cold turkey!

I have witnessed withdrawals from heroin addicts, this was pretty darn similar! Rocking in a chair holding Mak as tightly as I could all night long, night after night, and yes more screaming! I have believed in God all my life but in this moment I questioned everything. A sleep EEG was conducted at sick kids in Toronto, the entire process was  a nightmare all its on. Just imagine pinning this kid down well 50 electrodes are glued to her cute head, now keep her away from pulling on them for the next 12 hours!! The screen in our room told us that Mak had several seizures that night all coinciding with bouts of screaming and jerking but to throw us for a loop the results came back normal. (I have no explanation but something to do with a false positive) I didn't know if I could take it one more minute when suddenly the new meds kicked in!! The twitching subsided and yes people the child slept!!!!!!! Makayla slowly made her way out of an overdosed state and back in the world where hallucinations didn't exist. The tortured child slept and I slept! It wasn't as though she never woke up in the night again because she did regularly, but the pain, the fear and the screaming all disappeared. Thank you Dr meaney!!!!

Makayla was stable for a few months and the specialists had hoped that once she became stable and seizure free her language skills would come back. They didn't come back and so they decided to test her for a variety of rare diseases. Spinal tap number 2. After a team of nurses tried several times to get an IV started to put Makayla under the DR had to give her oral meds that calmed her down because she got so upset at this point that she was able to constrict her veins making it impossible to find a usable spot! Eventually the spinal tap was done. After 8 long weeks of waiting the results showed nothing. Relief but the mystery continues!

Catching on up - year 3

Year 3, I call this the year of the ambulance, the hospital stays, and withdrawals! In the summer after Makayla turned 3, she had a very difficult time waking up one morning. It was just the 2 of us home and after waking up she could barely stay awake, she seemed disoriented and very clumsy. You never want to think the worst but suddenly Mak lost consciousness! I dialed 911 and within a few minutes a whole lot of people were in my house! Her breathing had become very labored and her eyes were totally rolled back into her head. As the fireman tried to rouse her and put oxygen mask over her mouth she didn't even wince. She wasn't there! She couldn't tell the difference between me and these perfect strangers. ( Now considering how anti social Mak was this was incredibly crazy for me.) At the hospital she was hooked up to all the essentials, they took blood, and than we waited, and waited and waited. Mak was unconscious for 10 hours!! This feels like an eternity in the emerge when its your baby!! The pediatrician figured this to be a post dictal period after what must have been seizures ( sudden loss of consciousness, eyes rolled back, etc.) It had been suspected that it was a stroke but her cat scan was clear! So what do you think they did, thats right people they gave her a huge dose of meds!! Once she finally started waking the meds had caused a strange reaction, what was labeled as thrashing about! Now to explain all the details would take up a whole lot of blogs so I'm gonna give you a short version.

    The next day we went home. Her pediatrician than added a regular dose of anti seizure medication to her already large dose of muscle relaxant and botox injections. Makayla hated these new meds, she fought tooth and nail, and would spit as much out as possible. (perhaps she knew better) Now without using any profanity it will be hard for me to get my point across here, Makayla turned into a possessed child who wanted to crawl out of her own skin! She screamed night and day, there is no question in my mind that she was hallucinating ( and the sights were not rainbows and sunshine).  We tried changing from tablets to liquid but  it was useless we were doomed.  Now one would think well at least she isn't having anymore seizures, well thats what we thought until we went to visit Oma and Grandad in Peterborough(3 hours away). I had a girls night and had to race back to find Mak nearly unconscious again, the cycle repeats ( 911, emerge. IV, little old dr with a bow tie, heavy does of different med, 15 hours of waiting for her to wake up) However this time she presented with some stroke like symptoms in the ambulance. ( scariest moment ever up to this point) She tried crying but only half her mouth would open. Dr Bow tie called the thrashing about 'scratching at demons' which is not what I wanted to hear but totally what I thought. To be continued...