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"Mayci's Metabolic Mountain"(Cure PDCD)

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WELCOME
Our names are Natasha and Patrick, we are the very proud parents of Mayci, who is almost two and her five year old sister Natalia. Mayci was recently diagnosed with a life threatening and presently incurable mitochondrial disease called Pyruvate Dehydrogenase Complex Deficiency (PDCD). We need you to know that it is very emotionally difficult for us to share our story publicly, as our situation is truly heartbreaking for us. My husband and I are very private and protective people especially when it comes to our children, but time is working against us! We can not afford to waste it, as our daughter's body will continue deteriorating to the point where this disease will slowly take her from us cognitively, developmentally, physically and prematurely end her life, unless a cure is found!  We understand that life is busy, but we hope you are able to make the time to read our story about living with PDCD, the impact it has had on our family, treatment, our financial circumstances that led us to finally having to fundraise, our goals moving forward and how you can make a difference today.

(Mayci's first Easter in 2018)

Despite trying to handle everything on our own thus far, we realize we now must allow ourselves to be open and vulnerable to friends, family and even strangers, for Mayci's best interest. We must accept that in order for us to sleep at night knowing that we have truly done everything in our power to try and help save our daughter, we have to reach out for your support and financial assistance. We must leave our personal pride at the door because we are on a "quality of life quest" and time is of the essence. Many children like our daughter, who are living with Pyruvate Dehydrogenase Complex Deficiency,  do not survive past the age of three and our little Mayci will be two in January. Others effected usually pass away in adolescence, with minimal people with this diagnosis living into adulthood.  Therefore, we need your help to be able to keep Mayci as safe, comfortable, and involved as possible, so that she is able to live life to her fullest potential during the time we are priviledged enough to have her with us. We are optimistic that despite not currently having a cure for this disease, with the proper supports in place, required assistive devices, education, clinical trials, medical intervention and multiple symptom management strategies, we can still positively impact Mayci's overall quality of life. Together we will climb "Mayci's Metabolic Mountain" and are hopeful that we will beat the odds and continue to get to live as a family of four for years to come.

WE REFUSE TO ACCEPT AN EXPIRATION DATE ON OUR CHILD'S LIFE!       

MAYCI'S STORY
On January 19, 2018 we welcomed our second beautiful baby girl into the world after an uncomplicated pregnancy and birth. Our 7lb 11oz blue eyed bundle was perfect in every way.
(Newborn Mayci greeting the world with a peace sign)

Little did we know behind the scenes her body was already working against her, due to a fluke genetic mutation that happened at conception. Looking back we had no idea that we had just stepped onto the biggest emotional rollercoaster ride of our lives and were about to have a two year journey ahead of us, stuck in "unknown limboland." From our perspective, it began around two months of age when we had multiple medical trips out of town trying to obtain clarification of diagnosis for her variety of unexplained symptoms. We found out she had double hip dysplasia, which required two different braces as she was born without hip sockets.

(Mayci waiting for me to unlock the door because I needed two hands to hold her, ever so awkwardly with this brace)

We then noticed that she was not meeting her developmental milestones and began falling off the growth chart. She was diagnosed with failure to thrive and a global developmental delay. To clarify, Mayci is unable to roll from front to back, sit, pull herself up, crawl, walk or play without assistance. She enjoys making a variety of sounds and squeals, but nothing identifiable. She has eczema and allergies to milk protein and soy, which forced me to stop nursing and us to desperately try to find a formula she could tolerate. Just after her first birthday, she developed tremors in her wrists and ankles, which have now progressed into more intense jerking seizure-like movements called Myoclonus and Dystonia in all of her extremities and more recently her stomach, back, head, face and even tongue. We were referred to genetics, but it was a six month wait for results, which our Canadian Government stopped at the border, on the way to the testing facility in the United States. We submitted an appeal to have the genetic testing completed, as all of the medical departments involved in Mayci's care were waiting for these results before providing a conclusive diagnosis. During this time, we had more visits and admissions to Sick Kids Hospital in Toronto for tests, procedures and attempts to treat her symptoms.

(Sissy snuggles while waiting for our genetics appointment)

Mayci had a neurological regression and lost the minimal gains she made, like head support and safe swallowing.  A feeding tube was placed in her nose for three months and she recently had G-tube surgery, which is a tube inserted directly into her stomach for medicine and feeding purposes.

(All smiles after escaping her hospital room)

We also have a suction machine to help control her saliva/mucus/reflux secretions and reduce the risk of her choking or aspirating, as she is at increased risk of developing pneumonia. We have to give our daughter 17-19 syringes of medications daily. One of the most frightening aspects of her illness is having to hold her through over 20 intensely distressing movement episodes per day. They range from 15 seconds to 7 minutes, some of which cause her oxygen levels to drop and our baby to turn blue. 

On October 18th, 2019,  we got the genetic results back and our worst fear became our reality. We were confident in our ability to adapt to anything, as long as we were not going to lose Mayci. So now that we know her prognosis, how do we move forward, cope and navigate everything that we will continue to have to endure? How do we watch our baby decline before our very eyes? How do you explain to your eldest child, who is Mayci's biggest cheerleader in life, that she has her sister one day and may not the next? How do you ever fathom or get through having to bury your child? How do you support her through  every procedure and possible surgery when they scare you; as much, if not more than her? 

(Daddy/daughter comfort cuddles before G-tube surgery)

We had and will continue to have big choices to make. Do we let this awful disease rob us of ourselves, our marriage, the kind of parents we want to be and the life we want for our children? Do we let fear overtake us or do we choose to live for the moment? Do we celebrate every inchstone instead of milestone and do things like hold our children a little longer at bedtime, because we now truly understand that tomorrow is not a guarantee? Do we focus on being present and mindful? Do we try to make special memories and rituals that even death can not take away? Do we advocate and fight with all that we have to save our daughter while we grasp the severity of her prognosis?

(Post diagnosis when I promised Mayci to fight harder for her than I already was and love/support her through whatever was coming for us)

We chose to fight! Our baby girl deserves to live, eat real food instead of formula, go to kindergarten, have her first sleep over, grow up with her sister and maintain their amazing bond and keep her parents on their toes everyday. We can't do it alone. We need your help to try and keep her well, thriving and alive long enough to give her the opportunity to test and exceed limits and not be defined by her disease, but rather by her smile, personality, unique gifts and qualities; strength, determination, resiliency and perseverance.

(Reunion after being apart for almost two weeks. They miss each other something fierce)

WHAT IS PDCD AND HOW IS MAYCI IMPACTED?
Our simplified understanding of PDCD is that Mayci is missing an enzyme in the cells of her body that take nutrients from food and turn it into the energy required to fuel all of the different parts of her body. It is a degenerative disease meaning that the function of her body systems will continue to worsen and slowly shut down over time. Right now, it is primarily affecting her brain and muscular systems,  can lead to blindness and respiratory/cardiac systems are frequently impaired. Not to mention, rapid decompensation without warning is common. Mayci was always a baby that if she napped it was for a very short period of time and recently she is sleeping her days away more than ever. We are currently celebrating that she can roll over from back to front and sit unassisted for 20 seconds. Mayci is the biggest snuggle bug we know and her smile and unique laugh is sure to brighten anyones day. In fact, my husband and I agree it is what has kept us going on many occasions. If she can keep smiling after needle pokes, intense movements, EEG's, ECG'S, MRI's, X-rays and ICU monitoring to name a few, then we can surely continue fighting to keep her smiling. This is one of the things we are most scared of her losing the ability to do. 

(The cutest little EEG Avatar ever!)

A common cold or flu can be life threatening for Mayci because if she gets sick the energy she does produce will go to fighting off the virus instead of the rest of her body. This can cause complications to quickly arise that have the potential to kill her. The world feels like a scary place for now and even the simplest activities of daily living or having supports in our home pose a potential health risk.

TREATMENT
Doctors treat their patients with PDCD with vitamin B1 also called Thiamine, although there is minimal research conducted to prove its efficacy. We were informed that the only evidence based treatment option for PDCD at this time, is a closely medically monitored ketogenic diet, which is not guaranteed to be effective for all children. However, many parents indicate that it has been "life changing" for their families and has reportedly helped non-verbal children speak and non-mobile children start to crawl, walk and run. Currently, we have been told that Mayci is a priority to determine if she is a candidate for this diet. Unfortunately, our consultation is only in January followed by a five month wait list if she gets approved, until we can be admitted to hospital to actually begin the diet.  Knowing that we may lose our daughter by the age of three, elevates our sense of urgency and makes having to wait seven months impossible to us. We can not look at our daughter everyday, knowing there is a treatment that could decrease or prevent her from the pain and discomfort she experiences, that we can't access because of staffing issues or bed shortages. We have contacted a variety of Canadian Hospitals inquiring if they offer the same caliber of ketogenic intervention and would be able to take us sooner and are waiting to hear back. If not, we must go to the United States and pay out-of-pocket to start the diet that could add time to Mayci's life. 

(Mayci is also on medications for the following: seizures, neuro-irritability and pain [we feel is a blanket term for unknown cause of irritability and pain in children with neurological issues] acid reflux, sleep supplements, motility medication and a laxative)

OUR FINANCIAL CIRCUMSTANCES
I was on maternity leave for a year with Mayci and when I returned to work, Pat took a leave and became primary caregiver, as she was too symptomatic to be in mainstream daycare. I had to leave work again only nine months later to start a family caregiver benefit leave, which was initially declined and left me with zero income for two months, which I am assured is supposed to be rectified by December 2019. This combined with all of the other medically associated costs and the future anticipated costs is overwhelming. The Assistive Devices Program covers up to 75% of the required items, leaving us with several unfunded financial responsibilities. Similar to the majority of parents, we only want what is best for our children. We were confident we could provide this when we chose to grow our family, but had no idea what our future would entail and how everything in the special needs world is so costly. 

(Mayci test riding her potential Cadillac at the stroller trial)

OUR FUNDRAISING GOALS MOVING FORWARD
Our 1) primary goal is to meet our daughters current needs that are listed below and once these are achieved, 2) we wish to secure an "emergency fund" for unexpected medical trips, six hours south of our home. The truth is, we went from a full-time two person income household to only one in the blink of an eye and even when Employment Insurance is making regular payments, our overall income has been drastically reduced. Another reason is that we have to try and keep our family unit together, as much as possible. When you ask your eldest daughter if there is something we can do while we're apart, that will make her feel closer to us and her response is "I still want to brush my teeth and read a story with you before bed," it is a clear indication that she is trying her best to hold onto the structure and routine we usually have. Despite being a very hands-on, attentive family, she is missing quality time with us before we have even left. So we are thankful for FaceTime and being able to better meet Natalia's needs. It is unfair, as she is still little and needs us and having to be apart feels awful for all of us and as parents is very guilt and anxiety provoking. 

Caring for a child with such rare and complex needs can be very isolating, however we have found our tribe of other PDCD families through social media and are happy to have them in our corner. They have a worldwide annual PDCD conference, where the kids can get together and make friends who share their diagnosis. It is also a way for parents to ensure they are aware of the latest research and clinical trials being done, to attend fellowship and donate to the research fund in hopes of finding a cure. It is nice to feel understood, but it is also hard to know that there are other families also fighting for their children's lives on a daily basis or whom have lost their children to the complications of this disease. Therefore, 3) our long term fundraising goal is to expand beyond ourselves and continue to raise awareness about Metabolic/Mitochondrial diseases and make on-going donations to The Elizabeth Watt PDCD Research Fund. 


HOW CAN YOU HELP?

1. If you are local, please be mindful if you are speaking about our story in the presence of children, in case they associate with Natalia at school or through mutual hobbies. We do not wish for our eldest daughter to be bombarded with questions or comments or fully understand the severity of our situation at this time. Please refrain from asking for updates while our family is in public, as it is difficult to share honestly without getting emotional or in an age appropriate way without some pre-planning.

2. Do not minimize your ability to help even if you are unable to contribute financially. Good old fashioned word of mouth can make all the difference. Share our story with those closest to you and encourage them to donate individually or as a group of family members, friends, colleagues, sports teams and businesses etc.

3. Like and share on all social media platforms and we ask that you add an individual encouragement piece on how you know us and/or for your contacts to read our story and donate if they can. 

4. Donate what you can, whenever you can, as this is an ongoing fundraiser.  No amount is too small, but every dollar is appreciated.

(Mayci unwell and in transition between nasal gastric tube and G-tube)

WHERE WILL YOUR MONEY BE GOING?

Short Term Goals:

1. Ketogenic Treatment and possible travel costs to initiate this, as soon as possible.

2. Air exchanger and medical grade filtration system for our home to provide fresh purified air, free from harmful toxins, bacteria and viruses that worsen Mayci's symptoms and can be life threatening.
= $4099.00 plus HST

3. AFO (ankle/foot orthotics) as her feet are often held outwards to the side and she is not weight-bearing at all.
=$800.00 unfunded portion of $3200.00 total cost as covered by the Assitive Devices Program (ADP).

4. Thomashilfen Special Needs Carseat because with such frequent trips and having hypotonia she defintaly requires more support for optimal safety and prevention of postural problems.
=Concrete quote pending and will upload it once received

5. Splashy Bath Seat to keep Mayci safe and avoid risk of aspiration in the tub, allow her to safely experience messy play and have everyday fun like playing at the beach where we camp.
=$735.00 plus tax 
https://www.fireflyfriends.com/ca/our-products 

6. Specialized Supportive Stroller to help Mayci sit and tilt in an Occupational and Physiotherapist approved position, participate in things that we currently have to hold her for like baking with us at the counter and avoid postural/spinal problems in the future. We are currently waiting to get a more specific quote for Mayci's individual needs.
=$7178.25 unfunded portion of $9492.00 total cost as covered by the ADP.

7. Jetmobile to help Mayci develop sensory motor skills that provides fun and mobility for children with different abilities.
=$815.90 plus tax
https://www.performancehealth.com/ 

8. Upsee to help Mayci experience upright movement and create the possibility for social and emotional development by letting her interact with peers at eye level. It helps remove social barriers linked with disability that restricts a child's level of participation and functioning.
=$1650.00 plus tax
https://www.fireflyfriends.com/ca/our-products 


Long Term Goals:


8. Travel and accommodation for clinical trials, study participation and attending the annual PDCD conference. 

9. Future goal of donating to the Elizabeth Watt PDCD Research Fund.


In closing, here is a quote we find fitting for our situation. "After rain there's a rainbow, after a storm there's calm, after the night there's a morning and after an end there's a new beginning." -unknown

When the search for Mayci's diagnosis came to an end, it was followed by a huge new learning curve for everyone. We believe that with a little luck, people will support Mayci, our family and our cause, so that the constant feeling of an oncoming storm and risk of being struck by lightening is reduced in hopes of extending/preventing the end for our precious little pot of gold. 

(Halloween 2018, showcasing that despite it all, we do not wish to be pitied because we are so grateful for our beautiful girls and the memories we are lucky to be able to make)

We will continue to advocate, adjust and fight for Mayci every step of the way.  We invite you to be an integral part of her journey and become an appreciated member of the "Mayci's Metabolic Mountain Climbers" team, where you will receive updates, posted expense receipts and pictures proving how you have positively impacted Mayci and our cause, not to mention a lifetime of gratitude from our family.  

Sincerely, 

Natasha, Patrick, Natalia and Mayci
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Donations 

  • Ryder Millard
    • $885 
    • 4 yrs
  • Justin and Sarah
    • $60 (Offline)
    • 4 yrs
  • Club Richelieu
    • $200 (Offline)
    • 4 yrs
  • Stephanie's custom creations Christmas raffle
    • $250 (Offline)
    • 4 yrs
  • Anonymous
    • $60 (Offline)
    • 4 yrs
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Organizer

Natasha Baril
Organizer
Haileybury, ON

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