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 car 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.

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