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!!