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

On Eating Out With Special Needs Kids: Why We Still Try

Saturday was Cinco de Mayo, and so I decided I "had" to have some chips and salsa (ok, and a margarita, too). The way the restaurant experience went was pretty typical for us. It wasn't one of our better outings with the kids, but it certainly wasn't the worst, either. We went to a local Mexican restaurant, which took about 15 minutes to drive to. During this time, my 7 and 4 year olds hit each other with a toy drum stick, which of course my husband took away, which then caused more screaming. When we finally arrived, there was a 10 to 15 minute wait for a table. My 4 year old fussed and moaned so much that I finally picked him up, hoping some cuddles would calm him down. Once we got seated, we realized the booth was pretty tight for our family of 5, but we didn't want to wait for another spot to free up, so we decided to make the best of it. Now on to the next challenge... Two of my children and myself have food allergies. This was a restaurant we had been to before, so I knew what I could eat, but it had been a while since the kids went to this particular place with us. I was racking my brain trying to remember what things were ok from the menu. Once I got that figured out and the order was placed, I remained busy trying to keep everyone hydrated and happy. My 4 year old requires thickener in his water, so I luckily had remembered to bring that. Usually when we go out, I also bring some extra snacks such as cereal or fruit chews, plus some baby food and his medical formula. This provides a "safe guard" in case he doesn't feel like eating much from the restaurant (which is often), or, in case the food allergies are too hard to figure out at an establishment. If I am lucky, I also have remembered to pack some form of entertainment, although on this day I really didn't have anything with me that excited anyone! Once the meals came to the table, we checked carefully to make sure they had been prepared to the specifications we need, and then we got busy eating. Well, some of us did. My 4 year old pushed food around on his plate. I think he finally ate one french fry. My older kids did fine. However, they are not immune to table time issues, either. Sometimes they get restless and try to act too silly at the table. Other times, an allergen winds up in my 7 year old's food. (He can't have dairy). Sometimes my 11 year old suffers from swallowing difficulties. Even my husband can struggle with this at times, thanks to a disorder referred to as "EE" or "EoE." We have been in restaurants before when one of my kids had a tantrum, cried about reflux, or worse, vomited at the table. With all of this on board, you might wonder why on earth we don't just stay home all the time. Here is why: I like going out to eat. My kids also, generally, enjoy this change of scenery from our normal life. We have a small house and an even smaller kitchen. It's fun to spread our wings now and again. Aside from that, eating is social! I have two children on the autism spectrum. That, or the food allergies and other digestive issues could scare us off from eating in public, but I think of all the opportunities they would miss if I simply isolated them from meals out, picnics, school carnivals or birthday parties. Almost everything social involves food! I would hate for them to grow up believing it is too hard for them to join in these activities. When they become adults, I want them to feel confident that they can handle a noisy restaurant, and that they can navigate a menu. I want them to accept the invitation to a friend's birthday party, wedding or baby shower. At the very least, they can eat ahead of time and simply go for the sake of supporting friends and mingling. This is what it is really about. If I keep instilling in my kids that they CAN do this, then it will positively impact their future. Until then, though... I might be needing an extra margarita!

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.

Precious Time

Given the experience I have had with special needs and the time I have had to get used to the idea, I have been pondering why I still feel such a roller coaster of emotions over it constantly. Sure, autism is tough to manage, but I have been down this road before. And yes, boy number three has more physical movement struggles than I have dealt with before, but there is something else. I thought about this all week and then it hit me: I have a chronically ill child. Yes, autism is chronic, but what I mean is: my third born feels physically sick more often than not. I am talking about the extra diagnoses that make him medically fragile.

Some of the things we deal with are reflux, gastroparesis, food allergies and fatigue. On a daily basis, he may feel too full after just a few bites of food, might have a burning throat or upset stomach, or be overly tired while his peers run circles around him. It is heartbreaking as a parent to see your child in pain so often. Our medicine cabinet is much fuller than I would like. We have tried many medicines to control the symptoms as well as added some vitamins to the mix. His formula is a special kind that requires a prescription as well.

And then there is the great unknown, and the fact that his collection of symptoms suggests a larger, all-encompassing diagnosis that has so far alluded doctors. The immature gait, the unexplained fevers, the slow stomach, the lack of energy, it all adds up to something, they say. "Something"- and yet no one knows what.

At certain times I have expressed my desire to appreciate every day, but I doubt I have ever written with brutal honesty this simple fact: I do not know how long my child will live. Yes, his ailments may turn out to be pesky things that will improve some with time, and he may learn to adapt and live a full life. Without a clear diagnosis, we live in doubt and sometimes fear. I do realize we are not alone in this, and that many other parents, TOO many other parents, share this experience. And yet somehow it has been hard for me to identify my feelings about it or want to share.

This is why I drop everything and lay down with J.C. when he wants to cuddle. This is why I sneak into his room to look at him sleeping at night, or why I sometimes am secretly excited if he wakes up. This is why I do enjoy my breaks but miss him after a few hours away. He calls to me... time calls to me... more precious when it might be too short.

For the Love Of Twitter

Several months ago, at the urging of a friend and also driven by a willingness to help my favorite local non-profit, I joined Twitter. I thought at first that I would just get my feet wet, learn the ropes, and share pediatric feeding or autism tips occasionally.

I certainly did not expect to quickly connect with many other people who not only wanted to exchange information but be my friend. Taking that one step further, it was not long before a group of us decided to meet in real life, and we continue to support each other via tweets, whether it is someone needing advice or simply making each other laugh. Did we get along just as well in person as online? Yes.

Something invaluable to me has been connecting with other people within the autism community. There is simply no better forum for fast, appropriate exchanges of all kinds of information on the spectrum. It is also so nice to tweet out a "having a rough day with kids and autism" kind of thing and have a warm response of, "I know how you feel" and "Hang in there!" I feel like I get similar support on Facebook, yes, but there is not that "sharing with the world" feeling by any means. There is something liberating about saying what you know or feel and knowing it is "out there" for anyone to read. I have connected with so many bright, positive and productive parents of children with autism this way. And, as a mom of two kids on the spectrum and with other medical issues at play, some days, sadly, Twitter is the only adult interaction I get.

Some critics of Twitter will say, "Yes, but do I really need to know that you ate a sandwich for lunch?" To this I say, no, most people on Twitter are not sharing mundane tidbits like that, but if they do, then yes, it matters. That is part of the point. The every day things, the meal you enjoyed, that movie you just saw, or the song you are currently listening to are part of what makes you unique. If you balance that with good information, positive interactions and support of others, then followers will value hearing about the little things you love, too.

I can't fathom that my interest in these connections I have made will diminish at all. In fact, I think that with each day that passes, with each new diagnosis (or heartbreak over the lack there of) with the kids, I will crave this mix of fun and intelligent exchanges even more. Don't have Twitter yet? Try it... with an open mind... and watch what happens. I predict only good things.

Autism... Not Just for April!

April is Autsim Awareness Month, and we are already hearing stirrings about various events and reasons to support the cause. It is my feeling that autism is widely known about but not well understood by the general public. It is one thing to donate a dollar to Autism Speaks at the Toys R Us check out or display a puzzle piece sticker on your vehicle. But how can you truly raise awareness either in yourself or for others? And how can you make it reach beyond one special month of recognition?

I think it starts by erasing what you think you know. Many people feel bold enough to insist what autism is or isn't, even if they have no experience with it themselves. Autism is a spectrum disorder, meaning that there are kids at mild and severe levels plus everywhere in-between. Autism does not look the same in any two people. It is unlikely but possible to spend time with someone with autism and not see any "autism red flags," on a good day. In that, one of the hardest things for parents of the higher-functioning kids is hearing, "Well, at least it is mild!" Yes, we count our blessings, and yet this is like saying someone's tumor is "a little bit cancerous." When autism affects your household, on any level, the emotions at hand are fairly universal. I do not believe that parents with mildly affected children process the diagnosis differently, and in fact, the isolation level may be higher due to a lack of sympathy from others.

Even if you do not have a child with autism, you might know one. Your student, nephew, neighbor or friend's child might have autism. If nothing else, your own kids will one day study and work next to someone who is on the spectrum. With 1 in 88 affected, it is inevitable.

Reacting with compassion to individuals with autism makes a better world for all of us. In practicing kindness, we are reminded that we all are different in our own ways and simply want to fit in. The same goes for how we react to the parents of children on the spectrum. If you see a child acting out in public, please do not assume the parent has no control. In fact, he or she may be ready to cry with exhaustion after trying every standard trick in the book. Parents of autistic children spend many hours reading about autism, working on behaviors, and driving to and from costly therapy or doctor's appointments. They have had to fight hard at schools to get their child what he or she needs in the classroom. They sometimes have to make heartbreaking decisions about medications. They feel guilty about not spending enough time with their typically developing children. They often do not have time for socialization the way other parents do. They question their own strength every day. There are many lonely times.

In April and beyond, consider what you can do to help. You might be surprised how small but well-thought-out gestures can have lasting effects. It doesn't have to cost any money. In fact, some of the best gifts I have gotten were a smile or a nice compliment. If you have it in you to do more than that, consider telling your friends what you have learned about autism, or even blogging about it. Bring a meal to a family in crisis or offer to babysit for them so they can have a much-needed night out. Volunteer for a local autism organization. I think everyone benefits when kindness is at work, not just those on the receiving end.