Tag: Disabilities

Life of a Mom with Mitochondrial Disease

*This article is not to be taken as medical advice or as an expert piece on Mitochondrial Disease. The purpose of this article is to provide a look into one particular person’s experience and journey with Mitochondrial Disease.

One of my favorite parts of blogging is being able to tell others’ stories to help expand our understanding of what others’ may be going through. I believe that by communicating our experiences and journey, we can learn so much from one another. It helps create a community of support with acceptance. This is why I am so honored to have been trusted to share Kailey’s story with all of you.

Kailey is a wonderful wife, mom and person and also has Mitochondrial Disease but more specifically CPEO+.

So what exactly is Mitochondrial Disease?

According to MitoCanada, the term “Mitochondrial Disease” refers to a group of disorders. Each of these conditions involves a problem with mitochondria which are tiny structures inside almost every cell in your body; all the way from your skin to the organs inside your body. Their main job is to use the food and oxygen that enter the cells to make energy. Almost all of the energy your body needs for daily life and growth comes from mitochondria. When mitochondria fails, less and less energy is converted in the cells. The cells may stop working or die. Depending on where the affected cells are, parts of the body may not function properly and many health problems can result. The symptoms of Mitochondrial Disease can range from mild to severe. There are so many types of Mitochondrial Disease that it would be impossible to name them all, and many have yet to be discovered.

In this article we will be specifically focusing on CPEO+ which stands for Chronic Progressive Eternal Ophthalmoplegia. This is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in Mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual.

Diagnosis

Kailey was first diagnosed at the age of 20; however, this was after seven years of testing and seeing many doctors. She was eventually referred to a Neurologist in Toronto and was ordered her first muscle biopsy. Shortly after that she was finally given a formal diagnosis of CPEO+ (the plus sign is to signify that it is a more advanced disease).

Symptoms

Kailey was 13 years old when she started to get chronic headaches, migraines and ptosis (droopy eye lids). Over the years her chronic headaches and migraines continued but with the help of massage therapy, chiropractic treatment, low intensity laser treatment and acupuncture helped her manage them. However, her ptosis was worsening over the years which resulted in four eye surgeries. Kailey even had silicone slings inserted into her eyelids to help her eyes open better. Just imagine dealing with all this growing up!

Fast forward to today as she embraces her role as a mother of a one year old her symptoms have expanded. Kailey now has chronic fatigue, major muscle weakness (including muscle loss), ptosis, chronic headaches, swallowing issues due to weak muscles, acid reflux and delayed gastric emptying (food does not digest at a normal rate). Kailey also has low vision so she sees an Ophthalmologist at the Low Vision Clinic at University of Waterloo. Kailey has been given horizontal and vertical prisms for her glasses to help her eyes move. Due to her depth perception issues, blurry vision, trouble focusing and double vision, she is unable to drive a car.

Treatment

There is currently no cure or specific medications for Mitochondrial Disease CPEO+. The treatment that Kailey is presently doing is seeing her Naturopathic doctor, message therapist and chiropractor to help her manage the symptoms. Kailey also takes some vitamins and supplements, including Coq10 that has been prescribed by her Neuromuscular Specialist.

The Effects on Pregnancy

Kailey’s pregnancy was considered ‘High Risk’ due to her disease. Fortunately, Kailey had a healthy pregnancy with the exception of minor low blood pressure. Kailey had to stop working around the seven month mark due to her fatigue from carrying around the extra weight from pregnancy. Like most ‘High Risk’ pregnancies she was monitored regularly by specialists throughout her pregnancy. Due to Kailey’s disease, she had a planned C-section at 37.5 weeks and it went extremely well.

The Effects on Motherhood

Motherhood comes with many challenges all on its own. So what type of effects is there on motherhood when you have CPEO+? Kailey states, “I often have to think outside the box to deal with some challenges. Since I am unable to drive, we bought an extra care seat for my parent’s car since they live close by to help us when I need to travel with my son, Jude. I also have some awesome friends who have extra car seats installed that we can go out with. However, we also rely on public transit if no one is available. I have to think ahead and plan our days wisely so that I do not run out of energy. If we take the bus, it’s usually in the afternoon so that my husband can pick us up on his way home from work which is a great energy saver.”

But traveling isn’t the only limitation that Kailey faces as daily activities that are normally done can prove to be difficult with CPEO+ such as opening baby food jars and pouches. Therefore, Kailey needs to plan her day in advance by asking her husband to assist in opening what she needs for the day.

When it comes to daily fun activities, Kailey plans a lot of reading, puzzles and music time to help manage her energy. Kailey also does plan some outings with her son such as trips to the library or baby programs. When she does go out she needs to keep in mind of her restrictions, for example, she often cannot sit on the ground and needs a chair as she is unable to get up easily. Kailey also hosts playdates often with new moms in her community this way she does not need to travel distances and her son can have fun with some friends.

Kailey has not allowed her disease to take away from her joys as a mother. Kailey has been very resourceful in finding supports to help her and her family. Kailey has a nurse and visitor from the Healthy Babies, Healthy Children Program which is a home program that provides support and resources to parents. She also got in touch with a non-profit organization called Tetra Society who helps people with disabilities with equipment and adjustments and they helped adjust her son’s crib to make it easier for her.

Of course Kailey has an amazing supportive husband and network of family and friends who are very involved in helping. Recently she has set up a cleaner monthly and a mother’s helper once a week. “When living with chronic fatigue – some days are harder than others so we just go with the flow. Sometimes we need to adjust our plans or come up with a new plan that works,” says Kailey.

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Kailey’s Wish

“It’s a rare disease that is not well known so I wish that people, especially doctors would just know a bit more about Mitochondrial Disease. It effects people in many different ways and just like lots of other diseases, I am hoping for a cure! I am so happy that Momma Braga is writing about it – awareness is so powerful.” – Kailey

Tips for Other Moms with Mitochondrial Disease

Kailey suggests to set up supports around you with family, friends, community programs, etc. “Meet other parents! I have met some great moms and since it is not always easy for me to get out, they come here for playdates which is awesome” says Kailey.

Some other tips that Kailey suggests are:

  • Learn to ask for more help when you need it.
  • Ask your doctor or health professionals about any support groups or programs in your area that can help.
  • Request accommodations when you attend baby programs – usually staff are really open about this and want to help.

Tips on How to Manage Mitochondrial Disease

Kailey suggested the following tips to those who are suffering from Mitochondrial Disease.

*Please note that the following tips are suggestions based on Kailey’s own experience.

  • Take it one day at a time. Only do what you can.
  • Don’t overbook yourself and generally stick to one activity per day.
  • Make time for rest or napping whenever you need to recharge.
  • Try to stay hydrated and eat small meals and snacks throughout the day.
  • Join a few Facebook groups on Mitochondrial Disease as it can be a great support group.
  • If possible try to attend conferences specific on Mitochondrial Disease.

To learn more about this disease feel free to visit the following resources: MitoCanada and United Mitochondrial Disease Foundation.

Kailey lastly says, “Just because someone does not use a wheelchair or other mobility devices it does not mean they do not have a medical condition. There are many diseases and conditions that are invisible and this is really important to know. Please do not jump to judgments. Ask questions or provide supports to that person. In my experience as a mother with a disability you need to advocate for yourself and your child and it is key to build a support team.”

Kailey is an inspiring and strong mother who definitely has not allowed her disability to redefine who she was as a person or mother. Her resourcefulness and passion to help others is evident in all that she does. I want to take this time to thank Kailey for sharing her story to be shared with the world. Like Kailey stated, “Awareness is so powerful.”

Let’s be mindful of others, let’s demonstrate compassion and let us ask questions to understand. Let us create a more supportive community and I am hoping that we will be the start of one!

Until next time…Happy Parenting!

– Momma Braga
2017 Blogger of the Year by The Baby Spot

Life with an Autistic Son

Parenthood is this rollercoaster journey that has us constantly learning about ourselves. We learn to embrace and enjoy the beautiful moments and we learn to cope with the challenges that parenthood brings us. Everyone’s experience and journey is as different as every child is. Even in one family with more than one child can differ depending on each child. Even though everyone’s experience is different, we can still learn from each one’s experience and never judge it. We do not know one’s full story, the battle they are fighting, or the experiences they have, unless we take the time to talk.

It is my honour to share with all of you the experience of a truly inspiring woman and mother of two, who has learned to alter her life with an autistic son.

Adele was born and raised in Toronto, Ontario Canada and is the first generation of Portuguese Canadians. Adele has two sons; one is 16 years of age and her younger son is 14 with autism.

So what exactly is Autism Spectrum Disorder (ASD)?

According to Autism Ontario, ASD is a life-long neurological disorder that affects the way a person communicates and relates to the people and world around them. ASD can affect behaviour, social interactions, and one’s ability to communicate verbally. ASD is a spectrum disorder, which means that while all people with ASD will experience certain difficulties, the degree to which each person on the spectrum experiences these challenges will be different.

Onset is early childhood and the presentation changes with development over the life span.

Adele & Aidan’s Story

In 2001, a life changing event occurred within Adele’s immediate family and at the same time Adele noticed changes in her youngest son, Aidan who was only 14 months at the time. The changes she noticed were: he completely stopped talking; he would not respond to his name; had many night terrors; no eye contact and he would get much more frustrated. With these concerns, she took Aidan to the pediatrician and from there they were referred to a developmental pediatrician. After a six month wait to be seen, they were seen by the developmental pediatrician. Many tests and assessments were done. In the meantime, Adele kept track of the changes as the behaviours started to get worse. In 2003, Aidan was diagnosed with Autism by this time he was two years old.

Aidan, received Applied Behaviour Analysis (ABA) through Erinoak Kids Centre for Treatment and Development for only two years as they were on a waiting list for four years (this is government run program). While Aidan was on the wait list, Adele and her husband paid for private ABA therapy on a part-time basis (this was all that they could afford at the time) and Aidan was also enrolled in preschool.

The ABA approach is used to help teach social, motor, and verbal skills as well as behavioural skills. ABA is especially useful in teaching behaviours to children with Autism who may otherwise not “pick up” these behaviours on their own as other children would. This approach can be used by a parent, counselor, or certified behaviour analyst. Aidan was phased out of ABA as their findings were that he was not “progressing” at the rate required by the program.

On top of this, Adele, did a lot of work with Aidan at home and she was able to help him a great deal as she is what I like to call a “Warrior”. Adele did a lot of research to better educate herself on Autism and she came across a community organization called, Community Living Mississauga who provided her with resources and workshops to help her. Once Aidan was discharged from Erinoak Kids Centre for Treatment and Development for ABA therapy and transitioned full time to elementary school, the teachers at his school were amazing and supportive. But of course Adele never gave up and ensured that the hard work at home never ended too.

“This did not change my life but it altered it. This is all I have known.”

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This experience has made Adele realize that there is a lot more that she could do. She was no longer shy and became more assertive. This motherhood path that she was on gave her a voice, strength and she became fair but firm. “I never gave up and will always be there for my sons,” Adele stated.

When reflecting on her journey, I asked Adele, what has been the biggest accomplishment for her or her son. Adele responded with such pride in her voice and said, “He is able to use the bathroom on his own at the age of 13.” To some they may not understand the significance in this but as a mom when you hear from experts that your son will be in diapers for the rest of his life, and to have him do this on his own is just an amazing accomplishment!

Parenthood is a tough job to begin with so I asked Adele, what advice she can give to a family who has a child with Autism. Adele stated: “It’s not the end of the world and there is hope! Don’t believe everything you hear. It is hard work and it isn’t easy but it can be done.” She further added, “Your children do grow up and you need to adapt with their growth. Get passed the judgement and develop a thick skin.”

Being a working mom with a busy household however does not stop this woman from helping others. Often she helps and guides other moms of autistic children. She comforts them and is always ready to answer any questions that they may have. On top of it all, she gives back to the organization that has helped her family by organizing and executing an annual fundraiser. In 2015, marked the 10th Annual A Night For Autism and it was a sold out crowd with over 500 in attendance. Money raised from the event supports programs and the summer camps for kids with intellectual disabilities at Community Living Mississauga. Talk about an amazing and inspiring woman!

“You go through so many feelings when you first hear that your child has Autism. You fear the unknown; guilt; denial and then acceptance. It is tough but the rewards are priceless. Never give up! The best moment for me is when you finally hear “mom” when you were told you would never hear it.” Adele lastly adds, “I wouldn’t change him for anything!”

Adele’s journey is inspirational and a great lesson for us to love one another no matter how we may be perceived by others. Someone with autism is just a person with individual needs. A person with loving family members. A person who needs to be accepted and included in her or his community. As this person grows into adulthood they need to be given equal opportunity preparing for and succeeding in adulthood. Autism does not end in childhood and it stays with them for the rest of their lives. Let us be more supportive of them and their amazing families that exemplify pure strength.

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I would like to specially thank Adele for sharing her story of hope, courage, and never give up attitude. Thank you for all that you do for your family and for the community!

– Momma Braga