About Michaela

Michaela, our second beautiful child, was born in August, 2004, 4 weeks premature with a few health concerns that were considered to be resolved after a short stay in the NICU. She seemed to be happy and healthy in infancy although she was slightly behind in some early milestones. This was explained away by her “adjusted age”.

At a year old, we were concerned that she wasn’t really talking that much and then at 18 months, she wasn’t yet walking. She also had a very limited diet by her choosing. All of these concerns were brought to the attention of our doctor and we were basically told not to worry.

Around the same time, she suffered with severe sleep apnea. It was our hope that once this was corrected, she would make up for time lost. After having her adenoids removed, in February 2007, her hair mysteriously thinned out and stopped growing. A few months passed and hair returned but with a very different texture that could be described as wiry, kinky or coarse. Doctors could not fathom a reason for this change and we were pleasantly distracted by a burst in her language development.

When Michaela was about two and a half years old, we began working with a local preschool speech and language agency which again seemed to help us encourage Michaela to use what little language she had. We pushed her to put two and three words together to form sentences in order to get her basic needs met. The gains here were also short lived and Michaela seemed to plateau.

We reached out for help yet again to another agency that services children from birth to 6 years old. Many concerns continued including poor sleep habits, strange eating including a disorder known as PICA where the child has the inexplicable desire to eat dirt; toileting, self-help and above all language. We decided to focus on language improvement thinking that everything else might fall into place if she could express herself better.  Even after religiously employing many of the strategies that had been suggested, not only was Michaela not making gains, but we began to notice that she was losing her language. I don’t believe that I’ll ever forget the day that I realized that Michaela could no longer remember her beloved sister’s name.

By this point, it was the summer of 2008, Michaela was turning four at the end of August. The psychologist from the birth to 6 year old agency had come up with a diagnosis of Autism because nothing else seemed to explain our “sometimes Michaela”. This diagnosis did not sit well with me but I didn’t really care what they called it. What I cared about was what we were going to do about it. Somewhere in this time frame of spring and summer 2008, we had finagled our way into see the only Developmental Pediatrician in the area. Sadly, because Michaela did not present with motor issues nor was she six years old, we did not qualify to see this specialist under the two agencies that she serviced.  Luckily, this kind doctor did consent to seeing Michaela “out of her briefcase”.

After 3 years of waiting on one list to the next, a multitude of doctors visits and ultimately, a summer of torture dedicated to subjecting Michaela to every assessment, evaluation and test that the doctors could think of, we finally had our answer…

September 10, 2008—We got a phone call. “Michaela has screened positive for MPS.” We need to duplicate the test results to be sure.”    What is MPS? Bottomline, it’s not good. After the initial description, I refused to learn about it. For 2 months, we clung to the hope that it was a mistake and we asked for prayers for the same.

November 19th, 2008—It was confirmed. Our precious, innocent child was given a death sentence. We were told, “Michaela has a rare genetic disorder called  MPS or  mucopolysacchridosis. Although, we have not yet determined exactly which subtype she has, the end result is the same. They are alluntreatable…incurable and ultimately, fatal” We were told to go home and try to have a normal life. “Michaela is not severe now, but it’s coming.” How can you ever live a ‘normal life’ once your world is turned upside down? The devastation cannot be expressed in words. She’s only four years old.

December 10, 2008—The phone rang again with final diagnosis. We had been waiting for an agonizing 3 months to the day of the first phone call. “Michaela has MPS III B also known as …Sanfilippo Syndrome Type B.”

What can we expect? Little by little, she will be taken from us. MPS will be like a thief in the night. It will destroy her piece by piece. Over time, speech and comprehension will diminish. By age 10, her movement will become very limited. She’ll need a wheel chair. She may eventually require a feeding tube. In the final stage, Michaela will become immobile and generally unresponsive. She will lay there helpless and vulnerable awaiting a merciful eternal rest. We’ll be lucky to have another 10 or so years with her.

 Michaela at 10 years old. This was the first birthday age marker in the decline of our daughter. Doctors foretold that by age six all language and comprehension of it along with the ability to learn will be gone. Because of our endless fighting, research and diligent supplemental regimen, Michaela still had some language. She still seemed to understand many things. She went to school but she had lost what it takes to seek out interaction with her peers. If they didn’t come to her, she might not bother with them. She did have some sleepless nights where she seemed to scream out in pain. Even though she can’t put it into words, a parent knows the meaning behind the cries of their child. Other times, she seemed tormented by moments of fear caused by dementia. On a happier note, she still had many joys in life including music, her favourite t.v. shows and colouring just to name a few. Michaela is still very lovable. She reaches out both to give and receive a hug. And when you are patient, you still might catch a glimpse of the playful side of Michaela for a quick game of chase or to see the smile that would melt your heart.

TODAY, Michaela is 12 years old. She is beginning to slow down. The damage to her hips makes it painful to walk on many occasions but she still persists and she especially enjoys her evening walks around the neighbourhood. Her body is often overcome by involuntary movements which prevent her from sleeping, a most basic necessity that most of us take for granted.

GOOD NEWS UPDATE! Michaela has been invited to participate in a clinical trial that is set to begin sometime in summer 2017 but it’ll cost $40 000 to get her there.

We’re still praying for a miracle. We believe that God helps those that help themselves. So, in the mean time, we desperately need to fight back and hold this devastating disease at bay.

We are humbly requesting your help in any form that you feel would benefit our situation, whether it be a financial contribution or sponsorship of a fundraising event or sharing our story with someone who you know that might be able to help us.

Thank you in advance for your support.

For more information on Dr. Fu’s research, go to http://www.bensdream.org/ccrigrant.html

Sincerely,

Ann, Glenn, Faith, Michaela and Aidan