Tag: Mitochondrial Disease

Sick Days

The past few days have been a little scary with Daphne.

She has been sick.

To most people with kids, sickness comes and goes and yeah it’s tough and nobody likes to see their kids sick or deal with the sleepless nights but with Daphne it’s very different.

Most if not all of you will never be able to understand the stress a sickness brings to us when it hits Daphne.

How is her body going to be able to handle it, how long will it take for her to get over, will she loose weight, what antibiotics can she take, how will her body respond to the medicine, how many doses of Tylenol or Motrin can she take before…we don’t know the answer, will she have a seizure, will she have, dare I say it and please say a prayer and send a good thought or whatever you believe in before I write the the next part….

(I did)

a REGRESSION!

Is the temperature right, will she spike a fever at night, is the house temp right, her body temp, her room temp, should she be in cotton Jammies or fleece or a sleep sack or should she be sleeping with us or us in her room on the floor so we can monitor her closely….

Let me tell you those are just a few of the questions that run through my head.

We hear so many stories of hospitalized Mito kids and (say another prayer) we have avoided that so far.

Well this sickness caused a high fever last Sunday after a few days of yet another ruptured ear drum that we were treating with ear drops and decided to hold off on the medicine since it had only been 1 week since she was cleared from her previous ruptured ear drum. She has had approximately 3-4 ruptured ear drums in the past couple months.  

She is teething, and I mean really teething, she has gotten 8 teeth in 6 months and is working on 3-4 more all at once. I blame the teeth but with her you never know.

So when she spiked a fever of 102.5 on Sunday I called the doctor and started an antibiotic. Monday we went to the doctors to follow-up and her fever was 103.5.

My girls and I run high fevers so it’s not something I used to get too worried about until Daphne, like I said earlier it’s very different.

Fevers are very dangerous to her disease.

We don’t want to give the Mitochondria any more reason not to function properly.

After consulting with the Medical Director of the Metabolic Group that provides the care for her Mito Disease and per the Pediatricians recommendation we started a 1 -3 series set of daily shots of rocephin. 

* I had a little anxiety as the pediatrician who saw her was not her doc, a new doc to the practice that had never met Daphne and clearly knows nothing about Mitochondrial Disease.  I was very nice to her but a skeptical nervous nelly all at the same time as she was comparing Daphne’s illness to her 14 month old daughters cold.

FYI please NEVER compare your “normal”, “healthy child” even if sick to my daughter with an extremely rare disease, I have a normal child and the two are incomparable. Nothing gets my blood boiling more than that!

But with a cool head I kept going on but said any thought or direction you want to take has to be cleared by her metabolic group first. 

She tried to get them on the phone via the physicians line but they are smart and took my call first, point for the Metabolic Director.

The Metabolic doc asked all kinds of questions on her appearance and suspected cause and when the ped doc said this is my first time meeting Daphne you could literally hear crickets on the phone so I interjected before he lost his cool and answered all his questions and explained our doc was on vacation and this doc is new to the practice.

All seemed okay after that and the Metabolic doc agreed with the treatment and to treat the fever as aggressively as possible.

The antibiotic selected is apparently very painful, they even mix a little lidocaine to help with the pain and had to give it to her in both legs since her dose was too large for one leg.

When the nurse said normal walking patients complain that it hurts to walk and often will not my heart broke for poor Daphne but hopefully she would not have that level of pain with her immobility.

So I took a VERY fussy baby home and she was what we call in a FRAGILE state. Any little thing can set her off so we all walk around on pins and needles.  I thought that night was going to be better because she had a dose of medicine in her but it was the worst night of all. 

Her sleep was already bad with the illness, she was not napping during the day and was not sleeping much at night, up 3-4 times.

Monday night she managed to sleep in her bed and Rich woke her to give her, her normal 1:30am bottle and her temp was 103, we woke her fully, gave her Tylenol and I held her on my chest, she was burning up but I know when I get a high temp I am freezing and when the temp starts to go away I then get really hot.

But that was not it, her heart rate was elevated and her breathing was labored and I was so close to dialing 911, talked to a sleepy Rich who thought she was normal, and the started texting my dad at 3am knowing he was up on the east coast and getting his thoughts since it had been about 20-30 mins since her Tylenol and the fever had not dropped much and googled labored breathing and elevated heart rate due to fever and sure enough a babycenter article appeared that on average in a child the heart rate will increase 5-7 bpm with each degree elevated… 

A sigh of relief that I was not crazy, all though me trying to record a pitch black video of the sounds of her breathing for my dad to listen to, with a humidifier running in the background was a little nuts. Sorry Howard!

So Rich took her in for dose #2 and her temp was still high and the ped doc said if she spikes a temp tonight she needs to be admitted to the hospital and to treat any temp over 100.4. 

Umm I was freaking out and expecting the worse because even with Tylenol her temp did not go down to 100.

Rich gave her Tylenol at 2pm on Tuesday and I watched her fever and checked it periodically in the middle of the night and it only got to 100.2, talk about lucky.  Even the next day it was low grade just under a 100, I took her back in for dose #3 and the final dose and asked what to expect and how to clear her for good.

What I didn’t mention yet is the suspicion is that all of the ruptures were the same ear infection that had not gone away but the ear drum healed but this stayed behind the closed drum and continued to fester, but the doc also saw puss on her tonsils (maybe strep).

I pointed out to the ped doc on day 1 of her fever she got a red spot on her forearm. Spots/Rashes and fever together can mean something.  They said NBD.

Ok so on day 1 of the antibiotic she got a red spot on her head. They looked at it and just said watch but didn’t think it was a reaction to the medicine.

On dosing day 2 spot on head stayed but everything else was normal.

On dosing day 3 in the room waiting for the ped doc she broke out in a rash all in her hair. I pointed it out to the doc and I said maybe a contact dermatitis…it happens to us sensitive skin folks all the time. She said maybe roseola or viral rash, NBD.

Well day 4 normal day the rash spread down her neck a little, ok I just watched it.

Day 5, Adelaide and I went Black Friday shopping (all day basically) only to come home and see a rash all over her back, under her diaper waist line, on her belly button and a little on her chest. 

Geesh, seriously?! 

I FaceTimed with my parents, took a picture, sent Rich to the store for Benadryl. 

Benadryl is not well received by Adelaide and I, it makes us super hyper. I know Daphne will be the same and was really dreading this right before bed. 

Rich brought home children’s Benadryl not infant so I said let’s just both go back to the store, Daphne needs to get out of the house.

Guess what. They don’t make Infant Benadryl. So I called the ped doc on call line, to find out Daphne’s pediatrician was on call… thank you Jesus!

Her doc is the sweetest most kind and caring doc I have met. She said so I have been out of the loop with her but have read the notes, and she asks what do you see is going on? I explain everything, text her pictures of Daphne, examine the rash for smoothness, when you press on it does it go away, etc.

She mentions measles (eek don’t even say it, she is not vaccinated against it) , Roseola, viral rash….basically it is unknown but it sounds like roseola and I google and it sure does. 


One thing I also read about was febrile seizures and Monday night during her really high temp and while I stayed up with her from 2-5am she was doing a really weird clenching with her hands and kept her arms high and tight and moving (honestly rich and I both thought it was the signs of a regression) but usually don’t say those things out loud to one another, but I started to this time and he just said I know. I watched videos of kids going through these and think this is what was happening.

I had training on seizures a long time ago as a Disney life guard and had a cat who had them regularly and was medicated so I watched a video tonight on how to care for them. 

1. Remove anything that can hurt them

2. Cool the environment (temperature wise)

3. Do not restrict movement

4. Wait until it is over

She is not out of the woods. We avoided a hospital visit and I hope to keep it that way but this “rash” needs to go away and we are following the doctors orders on how to care for it.

I decided to write this blog post as we got into bed to sleep probably because I can’t sleep and have to watch her and constantly go check her  in addition to watching the video monitor which is requiring a trip to the chiro and massage for my tight neck.

Worried Mama Tonight, even more than usual!

Pirate Baby

It’s not like she doesn’t battle with enough.

Daphne had her follow-up with the Neuro-Ophthalmologist this week and I wanted to discuss something we noticed a little over a month ago that we just called “Wonky Eye.”

We talked to her regular Neurologist about it but he could not get her to repeat it which was good because it was minimal but it has been more apparent lately and I even grabbed some pics to show the doc in case she could not get her to do it.

Now she has what she calls drifting outward which is common in patients with neurological conditions.

So we will try to correct it and strengthen each eye with Patching Therapy (1 hour per day per eye), maybe glasses but right now she will rip them off and eat them…..ABSOLUTE last case scenario is surgery.  We will follow-up in 2 months to check her progress.

I have ever said I HATE HATE Mito and wish it did not exist.  This is simply not fair!

Wonky Eye on the Right

Run of the Mill

So my parents have been here for the weekend…

No lie within 30 minutes being in the house all the dishes and ahem 2 weeks worth of laundry were washed and folded!

Hallelujah!

That was a huge relief, I could have almost thrown in the towel to doing the epoxy in the garage….nah who am I kidding, I love a good project.

Actually Rich and I have spent most of the evenings over the past couple weeks working on the garage after the girls go to sleep until about midnight.  We are tired in the am.

But it looks so much better.

Anyhow I love my convo with my dad before bed is about “run of the mill” doctors. The ones that don’t make an effort to invest any time into their patients.

Ahhh obviously I was complaining about Daphne’s docs who treat her like a hospice patient. Sorry stupid stupid docs. Not my kid and not in my watch. I have no issue challenging them and making them think and making them do the best they can. 

They see tens of patients, not hundreds so they are supposed to be the resident experts bringing all the latest articles to us and knowledge on research, not the other way around.

These people piss me off and they piss my dad off! 

Take the time to read and research, it’s not that hard! 

I am going to say, sorry not sorry for him continuing to fuel my hatred and disappoint in most of the docs I encounter (FYI he’s a doc himself)!

So I can end on a positive note below are some pics from our weekend!

Light up my World

Our friend and neighbor bought a case of green light bulbs and asked the neighbors to change their porch light or shine a lamp in their window in honor of Daphne and Mitochondrial Awareness Week. 

I was absolutely blown away with this gesture and did not think of it myself. 

She said Home Depot will give a “refund” if you buy these to support awareness weeks.

Here are a few of the houses 💚

Some of my favorite moments

Since school has started, so has all of Adelaide’s activities.

Gymnastics 

Art

Soccer

Mid year Cheer

These keep her busy 4 nights a week, 4 hours one evening with a soccer game on Saturdays. 

She absolutely loves her activities and has always excelled at school with perfect grades even with juggling a very busy schedule.

Good parenting? Mama genes? Or just a great and exceptional kid?

Even with our craziness and the above is just Adelaide, Daphne has therapy 4 days a week and Rich and I play soccer one night a week and TRY to take a run or two midweek we still manage to have great family time. 

I will share some of my favorite pictures from the past couple of weeks.

*as you can see even though the news of Daphne’s Disease is horrible and dealing with her day to day life is not always easy and requires lots of planning for both kids we have not stopped living our lives which I think is very important for mental health which I believe is the key driver of your overall health. 

Xoxo

From a mama that earns her glass of wine

Mito Family Social

The Mito Family Social was…

Eye opening

Amazing 

Sad

The families that came have been battling with Mito for much longer than us and are so comfortable in talking about their journey. I admire them immensely for this.

As the first family arrived with a 12 yr old boy in a wheelchair with a vent tube in his throat, I almost lost it.

I ran to the car to get my sunglasses so I did not upset the parents or the child.

The second family had two bouncing boys that did not have any noticeable limitations.

The third attendee was a 33yr old woman who again did not have any noticeable limitations.

The fourth family arrived with another wheelchair bound boy, 7yrs old.

All of the children were wonderful which really helped me keep a positive outlook. 

The 12yr old was a normal boy on the inside but stuck in a body that was failing him. He was chasing Adelaide around, wanting gum, getting fruit chews and not happy about it and acting like he couldn’t hear us.  He could not speak well, had a feeding tube, could not walk well and had other symptoms from the disease.  He was diagnosed at 8years old and prior to was a “normal” boy running around, riding motorcycles and talking freely. His parents are doing an amazing job with this guy, his sense of humor and loves shows in his personality. 

I cannot begin to understand how his parents must feel and how they dealt with the change.

They said he has not asked why they can walk and he cannot. I don’t think I could handle that question if I was them.

The 7yr old is defying all odds as his mother lost his older brother before 1 yr of age to the same disease. This guy is very sweet and nervous around strangers and said to have the mentality of a 9month old, but I saw so much more in him. He can walk with a gait trainer and can unbuckle his seatbelt and take his arms out of his arm straps. His mom is doing an amazing job and he has an older sister who ran around with Adelaide. 

The bouncing boys…such cuties, one has a feeding tube that has worse symptoms than the other and was not diagnosed until he was 4 1/2, he is approx 6-7 now. His little brother has the same disease but milder and no feeding issues. 

This mom was really able to relate on the importance of routine, proper nutrition, rest and staying hydrated. 

The woman was the first person that I have met, that could speak on the disease and how it makes her feel and symptoms she is developing. 

She expressed how exhausted she feels and cannot find the energy to go to the gym. Her hearing is starting to go and she cannot find work due to her limitations with rest needed and she has a teaching degree.

I will not share any photos from the day unless the families say it’s ok.

The mom’s were all shocked to hear Daphne does not have a feeding tube and has not been hospitalized for sickness to date.

I hope I did not just jinx myself and can keep her strong and healthy.

This winter has me terrified though!

Mitochondrial Disease Awareness

Only one week in Sept is Mitochondrial Disease Awareness, this year its the 18th – 24th.

On my Facebook page I am making the awareness for the entire month as the number of people I have encountered are clueless on the disease.

I cannot necessarily fault them as I was the same way so I am going to take this time to educate all that pay attention.

My post today is simple….

What are Mitochondria?

Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.

What is Mitochondrial Disease?

Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.

Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.

Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.

Source: www.umdf.org

Go to

I have been very busy lately and have not even checked the Hypotonia Group I am a member of but amazingly enough when I do there is ALWAYS a post that pertains to a thought or an immediate need I have.

A mom posted about this product and I think it is so clever.

I am can’t wait to get one and try it out.  They have some other really great products on there as well.  I love this as well (so versatile and compact).

I get really irritated when my husband and daughter just lay Daphne down next to them while they do something else like watch TV or read a book.

I keep telling them she needs to be upright to play not laying there like a vegetable.  She needs to be engaged and interacting and learning as much as possible.

Of course just laying her there is easier because she can’t scoot, fall over or require much attention.

Don’t get me wrong there is a time and place for laying flat and floor play to help her rollover and push up with her arms but, not on the couch or the bed.  Those surfaces are too soft for that.

I hope you can share this site with other families that may benefit from this.

XoXo

Desiree