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!