What I Want You to Know About Mitochondrial Disease

As we begin Mitochondrial Disease Awareness week, I am finding myself tempted to share statistics or re-post articles that have me nodding my head. I still may do these things. More importantly, I wanted to try and describe my personal experience with mitochondrial disease and how it affects my family.

This is what I wish for you to know, and to understand:

1. Mitochondrial disease can affect anyone at any age. It can be quite obvious, or very subtle. Patients can manage to participate in sports, or can be confined to wheelchairs. In our case, Joshua falls somewhere in the middle. He has exercise intolerance, but he can walk short distances. He uses a wheelchair for longer walks. Sometimes he rides for shorter ventures if he is just having a bad fatigue day. We are thankful to have the wheelchair. We are also grateful he does not, at this time, need it constantly. But it still sometimes makes my heart ache that we even need one at all.

2. Many physicians have been involved in the diagnosis and care of Joshua. We still lack a specific diagnosis for his health problems, (despite all their expertise), therefore, they say he has "unspecified mitochondrial disease." It is common to spend years to even get this generalized diagnosis, much less a specific one. Even the newer, more sophisticated methods of "combing through" all the DNA will not find EVERY type of mito defect out there. We are currently waiting for results of a whole exome sequencing test from TGen that makes us feel hopeful. This has not been an easy road, seeking answers. It makes me upset when someone says that they would stop looking and "relax" if it were their child. You would? You would not want to know what affected your child's daily life in such a dramatic way, or what it meant for their siblings or future generations? Think about this for a minute.

3. There are many issues Joshua has that are considered secondary to his mitochondrial disease, which include: gastroparesis, GERD, hypotonia, autonomic dysfunction, asthma, food allergies, tachycardia, neurogenic bladder, immune deficiencies, dysphagia, heat intolerance, hip dysplagia, cerebral palsy, autism spectrum disorder, visceral hyperalgesia, convergence insufficiency, etc. Even dealing with just ONE of these problems can be hard. So we juggle them all, like a crazy, multi-ring circus! We are constantly adding new issues to the mix, and trying to figure out how to manage them.

4. In many moments, on a good day, Joshua can appear pretty typical. What a blessing! However, I am aware that people also do not take into account all that we go through to make this so. Before leaving the house for school, for example, we give him his medical formula, four medications and a supplement. He takes three additional meds in the afternoon, and he needs approximately ten interventions or meds before bed, depending on his status. There is no cure for mitochondrial disease. There are only meds to help the secondary issues mentioned above, and supplements that are believed to aid in mito function. Almost every thing is a shot in the dark, all the time. We give things, often paying out of pocket, in hopes that they provide some benefit.

5. I have encountered a vast support system of other mito parents online, and some in person here in Phoenix. I am thankful for their support, and I hope sometimes I can help them as well. We share advise and experiences. We have each other to vent to when no one else gets it. Some of them have children who are no longer living. But they still come on the Facebook groups to offer support to the others. These are incredible human beings. Never can I express enough my sorrow for their losses, or my appreciation that they still fight for the other mito kids.

6. I am a pretty positive person, but I have tough days. Sometimes I worry a lot about my other children. I worry about my own health issues. I worry about Joshua's future. I enjoy posting on Facebook and texting my friends, or going out, but there are times I feel I cannot be completely honest about the difficulties I am facing, and therefore I withdraw into my own world for a while. I cry more often than I like to admit. On the flipside, there is love. So much love. I do not take much for granted. I am determined to be an advocate for my child. One of the ways I can do this is by allowing myself to open up at times like this and do my part to make mitochondrial disease a household word. If you would like to find out more, please consider checking out www.mitoaction.org

Reality, Heat and Hope

I love the whole glass half-full concept in life, and I will try to keep up with that as much as I can. I am going to be honest, though, the past couple of weeks have been rough. We've had a change in routine due to school being out for summer, and the heat has been especially hard for Joshua. As much as I want to continue to sugar-coat things, or nod my head with a smile when someone says he is doing "great," I just can't right now. More and more, I see that what we are dealing with is simply NOT normal, and I won't pretend it is. What you see as a good moment can so quickly progress into fatigue and dehydration. Also, a glimpse into our home life would show you what we go through for a chance of him to be even at baseline. Before you see us for a morning playdate at your house, a therapy session or an outing at the movies, a lot of things have already happened. For one, I was likely up til the wee hours with a racing mind, researching, emailing, or (if I am lucky!) reading for fun, just to relax a bit. Joshua has likely crawled into our bed crying and fussing around 3:00 or 4:00 a.m. He may have had leg pains, and stomachache or needed a diaper change. He likely has already had two reflux meds, one supplement, 8 oz of his elemental formula, a motility med and an electrolyte-containing beverage with thickener. He probably has not, however, eaten breakfast, as he usually lacks interest or ability, despite our best efforts. So, the whole time we are out, I am worried about his nutrition and fluid intake as well as how his body is reacting to the heat. I am also observing how he is walking and how tired he seems, to determine if it is a wheelchair day. I am observing any swallowing he does to make sure he isn't aspirating. I am watching his cheeks for signs of redness, his eyes to see if they are swollen, and feeling his skin for cold sweats (hypoglycemia). I am sometimes scared we should not have even left the house, but I try to create as normal a life as I can for him and his two older brothers. I have to carry a huge bag full of stuff just to make an outing safe. I always come home exhausted. On a different note, I am observing listening skills, emotional regulation, speech patterns and socialization, none of which I can claim to be age-appropriate, so that is a whole other avenue to deal with. I realize all parents worry and many parents have so much more on their plates than this. I admire those parents more than I can express. Joshua has done well over time in SO many ways, and for that, we are lucky. I don't want sympathy or- so much worse- pity. I simply want understanding of what families like ours go through on a daily basis, and how that is also amplified by summer heat. Diseases such as Joshua's metabolic/mito dysfunction are similar to lupus or chronic fatigue syndrome in the sense that the patient can look fine in some moments, or even for days at a time. It's both a curse and a blessing to what we refer to as "invisible illnesses." In these cases, a lot of compassion and a desire to learn and spread awareness can go a long way! One of the best things someone said to me recently was, "I don't really understand, but I WANT to!" Thank you for that. I hope many others will follow in your footsteps, with an open mind and heart.

Sweetest Valentine

This past week was Valentine's Day, a holiday that I think is fun at my kids' schools, but that I have no major emotional attachment to, or so I thought. That was before I received the most beautiful valentine ever.

My husband took the kids to school that morning and collected paperwork from the teacher, and so it was not until later in the day, when we switched cars back, that I saw a red and purple correspondence lying on the floor of my van. There was some sparkly paper folded up with a heart sticker in the middle. In retrospect, I wish in some ways that I had waited to be with the card-maker (my 3 year old, as it turned out), before opening. But in other ways, I am glad he missed my emotional reaction. I carefully peeled back the sticker, and inside was a small, red construction paper heart with a photo in the middle. The picture was cut jaggedly into a heart-shape also (obviously done by my preschooler with love). The photo showed him sitting in the sand of the playground, looking down contently at a bucket. It summed up the innocence of the age he is at now.

As any mother would, I then thought about how he would not always be this little and sweet, and how time was moving too fast. But then, something else hit me unexpectedly. I got a rush of emotion about his diseases, and it slapped me in the face, more than it ever has before, that I might outlive him. Yes, I have thought of that before, and I have even blogged about it. But this time, in a way that is tough for me to explain in words, it was different. It was the most I have ever faced the enormity of it all. And I realized I don't know how I could ever be on this earth without my son. My heart hurt and I couldn't breathe. His lack of exact lab findings on mitochondrial disease have left me the ability to ignore reality many days, or to assume the best (maybe he doesn't have it!) But the fact of the matter is, he has something metabolic for sure, and also, we know that he has gastroparesis. His stomach has slowed down a lot lately to the point where we are having to search for more and more medicines to get things going, as well as get second and third opinions and consider drastic measures like gastric pacemakers. We now also give him several supplements believed to increase energy. Take a minute to think about that oddity, as I did. He is in preschool. He will be 4 next month. Usually at this age, mothers are chasing their children, and saying they cannot keep up with them! It is common to hear things like, "I sure wish I could bottle that energy!" And here I am, giving my child a "cocktail" of remedies just so he can (sometimes) get off the couch. I have to encourage him to try and play, as do his teachers, where as normally you'd be telling a child this age to slow down or relax!

So, how to take these sad feelings and reality and make them positive? I think the answer is the same as it has always been for me. Don't dwell on the future. Appreciate every day. And, when grief does want to take over, let it come for a while. It's acceptable to grieve normalcy. It's ok to think about how much you will miss someone when they are gone. And then... hug. Cuddle. Say "I love you"- a hundred times. Don't stop believing in the possibility of a cure.

The precious heart card is now in a frame in my family room. I knew I needed to keep it close and make sure it was preserved. It doesn't make me sad to look at now, as it reminds me of all that is good in my life, of all I have to be thankful for, and of love, in it's purest form. Nothing could be better than that.

My Current Top 3 Things That Work

I've been thinking about parenting, and special needs parenting in particular. So much of it is guess work. I am constantly asking myself if I am doing the right thing. There are many decisions I have struggled with. In the end I generally feel good about choices I have made, but at times I could have used assistance from other parents who had been through similar decisions before. Of course every child is different, so what I have so say now may or may not apply to your situation. However, on the off chance that this helps someone, I will write about a few of the best things I have done so far for my youngest child, now age 3. These are the choices that have helped make our daily living easier.

1. Getting a wheelchair.
I realize for some families this is a necessity and not even a choice. According to our orthopedic doctor, we HAD to get one, too, and yet technically Joshua falls into a gray area. He does walk. Sometimes he can even run! But, his gait is clumsy and he tires very easily. We worked around this issue for years by using a baby stroller, of course. However, it started to become apparent that Joshua was not going to outgrow his issues, and that at times the walking even looks worse than it did before. On top of that, he is extremely tall for his age. His head was uncomfortably above the top of his regular stroller. I had the prescription for the wheelchair on my nightstand for quite some time before I could look at it without wanting to cry. Once I made the call to set up an appointment for measurements and choosing a seat, though, I felt more accepting. And when I saw how excited Joshua was, my heart was even happier. I started to see his wheelchair as freedom... for us both. This will enable us to take long walks or go on long family outings comfortably for years. It does resemble a stroller. It's a nice style. It's even "fire engine red" (per a certain 3 year old's request!) We don't use it every day, but I love knowing it is there. If you are on the fence about getting a wheelchair for a child who is mobile yet struggles, my advice is to go for it. I don't think you.ll regret it, ever.

2. Getting a handicapped tag for my car.
This is related to #1. We got our tag quite some time before the wheelchair, though. It came at the perfect moment, right before a trip to California in which, for still unknown reasons, Joshua lost his ability to walk for a few days. I still use it a lot. Like the wheelchair, I don't use it every day, but I love knowing it is there. I don't abuse it. Whenever possible, we try to park close yet save the actual handicapped spots for people who need them more. I do feel good about knowing we can park in handicapped when we need to maneuver the wheelchair, or when Joshua is sick or low energy. At times, he requests to walk, which I hate to deny, and the tag also comes in handy then. He simply cannot comfortably walk on his own from a far away spot. Being able to park in handicapped and then helping him successfully make it to the door helps his self-esteem, rather than him feeling like everything is too difficult for him movement-wise. If your child is mobile and doesn't always "look sick," be prepared for the potential for clueless, rude folks to question your use of the handicapped tag. This is a downfall, and yet it has only happened to us one time. I think the general public is getting a bit more educated that you cannot always SEE a disability clearly. Plus, when you know you are doing what is right for your child's needs, of course it should not matter what others think, anyhow. Handicapped tags or plates are there for those who need them. If your child falls into this category, even mildly, I suggest you get one.

3. Not obsessing about potty training.
This is tough as a parent. There is a lot of pressure from friends and relatives. Like with other delays, I have had to not think about the chronological age of Joshua too much and "what the other kids are doing." He's always gone at his own pace. I do have days where I panic about the time line a little. And, I have even wondered if his stomach issues and weak muscle tone could make full training an impossibility. I will cross that bridge when we come to it. For now, 99 percent of the time, I am able to gently suggest to Joshua that he could try to go potty, but let it go when he can't or won't. I change his diapers without complaining in front of him. He still drinks formula, eats baby food and sleeps in a crib. It therefore shouldn't be shocking that potty training is on the back burner. There are so many other things to work on! I think his little brain is going all the time. He's improved his speech and has become somewhat social at preschool! These are things to cheer about and focus on. I hope I am not still changing diapers when he is in kindergarten, but one day at a time will lead us to whatever outcome is meant to be. If your child is similar, try letting the potty thing go to some extent. Encourage, accept, don't pressure, and see if you both feel a lot more content with each other.

There are other decisions I feel good about, too, but right now these are my top 3. Of course I have my share of mistakes also. (See previous blogs for some of those confessions!) There are so many important things to figure out all the time while raising children. When kids have extra needs beyond the ordinary, life becomes even more confusing, but remembering to relax and ask for help go a long way towards making daily living easier.