LTBL – Page 2 – Life is RADD

Mito Family Social

Rich and I will be hosting a Family Social for those with Mitochondrial Disease.

This is going to be hard to meet other families, face to face, who are going through this.

Right now we don’t know anyone else. I have talked to some families online but this is going to be in PERSON!

I usually love these kind of events and networking and talking, it’s something I am good at, but I have to say I am a little nervous. Rich is not looking forward to it, this is not in his wheelhouse at all but we’ll get through it and I’ll report back on how it was.

So I have a favor to ask.

I know my blog has a lot of traffic. I am talking almost 5,000 views and 1,000 visitors since it was created in May. That is incredible and I feel absolutely blessed to be spreading awareness about the disease as well as sharing things about my family.

I would love it if you could pass the blog along to more people and to hopefully reach families dealing with similar issues even if not Mitochondrial because a health condition with your child is never fun or easy and you need as much support as you can get.

I would love to see a large attendance at the event and I am certain you can help.

Thank you so much for being loyal followers!

When you don’t know what to say…

As Daphne’s parents we now regularly experience the awkward situation of sharing Daphne’s story with friends or neighbors or co-workers. It’s actually not awkward for us. For us the story is well rehearsed, and it’s something that although will always be painful, we’ve accepted to some degree. But it is awkward for the listener. They are now instantly put in the position of having to respond to the most devastating news a parent could share, that their child has a serious rare disease. Nobody knows what to say.

A digression (Rich): when I was in college, a very good, lifelong friend of mine experienced the sudden and unexpected loss of his father. I thought a lot about what I would say when I saw him. Everything I thought of seemed so woefully inadequate that when I finally did see him, I said nothing.

My new perspective is this, saying something is always better than not saying anything. The text, “I’m sorry to hear what you’re going through,” feels inadequate, almost trite, to the sender. But it’s not. It means a lot.

People often say the wrong thing. Parents often feel the need to respond with their own child’s medical story, even if it’s off base. Somehow the story of your child’s frenulum isn’t quite on par with the fact that my child can’t use her arms. But, you’re concerned and engaged, and I appreciate that.

Now from Desiree: I have not publicized this as much as I do other things on Facebook and Instagram. I have a lot of “friends” from various walks of my life and some close, some not, but some that are always good about giving me a like on a picture or a comment so I still feel close with them.

I made a post on Facebook a couple months ago asking for thoughts and prayers about Daphne when she was getting an MRI. That post received a lot of comments and likes.

When we found out more about her disease I decided not to make a post for all to see and then jump on board to follow at that point, but for the group that cared enough to comment or like my MRI post and then to go back to it to see what I wrote.

Where am I going with this?

I have a lot a friends that I consider close and that I try to make an extra effort to stay in touch with since I moved to the other side of the country that have not reached out to me.

That have not sent a text, called or pinged me on Facebook.

It hurts. A lot.

I had a post about Criticism but decided to take it down because I got angry. A little angrier than I do in posts about the Doctors but I still believe in what I wrote.

I used to judge people.

I used to think there was a simple fix to most things.

I served a friend and coworker a piece of “humble pie” as a friend so uniquely called it and that person is angry with me.

Two very important lessons that I believe pertain to everyone:

you cannot change someone
if you don’t like something, remove yourself because you cannot make someone else do anything

*this does not apply to learning how to clean, cook, be helpful, etc. (men I am talking to you here 😉

So, we’ll leave you with this:

You can never completely understand what someone else is going through. But if you are being kind, compassionate and loving, your words are never misplaced.

Reversible

So my super smart, amazing research scientist husband spends just as much time researching Daphne as he does his job.

Don’t ask me when he has time for the rest of life.

Seriously he researches A LOT!

He found an article that I hope has changed our lives.

An article that I hope helps others.

An article that I have been so scared to mention it out loud, let alone write about it

…because something bad would happen (don’t ask me what)

…people would bombard the scientist

…maybe science would say too bad so sad it will not work

…our doctors would not believe in it

I was scared. I still am.

But I know the more science knows the better Daphne will be.

So here it is reversible

What is basically states is that there are 4 reversible mitochondrial diseases per her research. 2 fully reversible and 2 partially reversible based on a mild state and age diagnosis and some other stuff…..read it.

Daphne’s Disease is listed as partially reversible!

I mean when I read it and Rich and I talked about it I was so excited but then again contained my excitement so I didn’t jinx us or whatever else.

I met a Mito Mom who lives in Canada on a Facebook group I am a member of who told me to research articles and contact the authors to see what they know and to do the same with clinical trials since neither one of our kids are old enough to participate.

I said Rich this is what the Mito Mom said, you have to contact this doctor. So he did and she happened to respond super fast and was attending the National Symposium for UMDF in Seattle that we talked about going to but didn’t but we connected her with our Genetic Counselor so they could talk and meet.

We shared the article with our Metabolic Group and discussed the supplement N-Acetyl Cysteine which they wanted to discuss with us yesterday.

There are some GI issues that could come from it and maybe toxicity of the liver but she is functioning normal to date so we have to be a little careful with this supplement and will follow-up in 1 month to monitor her levels.

Also our San Diego Doc was just in the UK visiting her lab because of funding or a proposal she had requested. Small freaking world!

As our Metabolic Team stated we are now in a very small select group in the World and will get to know just about everyone associated.

My angry point of this post however is that the doctors (both the NeuroMet team and the San Diego Doc) did not bring up this article or any science from it and it was published over a year ago. RICH had to find it and really push them to explore this option.

This is even more justification that no matter how great of a medical team you have caring for your child, you are the only advocate for your child and much exhaust all means necessary to find a cure.

**This is exactly what I am talking about with all care not being equal and wanting to help bridge that gap for others that are less fortunate and do not have the resources or intellect to find this stuff out. I truly believe that is one of my missions in my baby being given this stupid horrible disease. I want to make this happen and do not want to be a website like all the others in memory of my daughters life.

I want my daughter to break the mold and defy the odds and science.

So the coolest part is the Doc in the UK recently received some money to study fibroblasts in the EARS2 gene mutations and she is willing to receive Daphne’s sample. I mean have any of you ever had this type of connection?!

Ok, maybe you have but don’t burst my bubble, it’s stuff like this that got me through yesterday’s procedure.

I hope and hope that she can find something to help Daphne and advance science. I have no idea on how long this will take. I will keep everyone updated.

There is another article on a suggestion of an intermediate stage and the use of another supplement but we are pumping the breaks on that one as we will wait approx 3 months before starting Daphne on anything else.

So you know these supplements are NASTY in smell and taste.

Two of them we put in her bottle and hide it with a combo of breast milk, formula and oatmeal cereal. We have tried oatmeal, applesauce and yogurt but to get her to eat enough to ensure it is all consumed is not fun, even if we do one bite.

Any tips for getting a baby to take them?

Thanks!!

NeuroMet Appointment

Well yesterday was the day we went to the NeuroMetabolic Clinic.

We were asked to arrive about an hours earlier than our scheduled time to complete consent forms and get bloodwork.

Poor Daphne had to fast for 4 hours, turned it to about 5 by the time they did her draw. She was a trooper through that even though she missed her favorite meal of the day…breakfast.

Don’t worry, I packed up her stealcut oatmeal and cantaloupe so she could eat right away.

I hate her getting bloodwork, only 1 time out of the several times she has had it, has it been a good experience. I mean her getting poked once and the vein found right away.

This time the phlebotomist came to the clinic so we did not have to go to the lab. I learned some things from our past visits that heat packs help the veins be more visible and larger and sugar water helps distract her a little from the poke. So I asked the genetic counselor to have those items for us since the lab always gives us a hard time depending on who we have. The lab did not disappoint with their attitude and lack of smoothness. The counselor even got annoyed after they poked her and dug around and had another guy look all while keeping the needle in her skin to say the vein just keeps moving. The counselor even asked if they should call another guy who they call the vein expert, they were a little annoyed which j think motivated her to get it right the next time. So they poked her other arm and got it first try. The counselor expressed her frustration to be about the techs and being a children’s hospital and you should be an expert, blah blah, the exact same things I have said. I even told her I have asked about a vein scan and they said they didn’t have it and she told me they were lying and to demand that use it the next time.

One of the perks to being a regular at the hospital is learning all the tricks to make your visit easier.

After the exhausting bloodwork Daphne had breakfast and a bottle while we talked to the NeuroMet Team (Metabolics doc, counselor dietician, nurses and neurologist). They asked about all the changes from our last visit and then the Neuro examined her since this was her first time meeting her. The neuro is the only one in her group that visits the the NeuroMet clinic so she will know Daphne well. She was pleased with Daphne’s head control, her tracking and progress that we reported. We were told Daphne has a good Corpus Callosum (a broad band of nerve fibers joining the two hemispheres of the brain) where other Mito patients and maybe specifically with her disease have abnormalities so that is something to be happy about!

Many many questions were asked and answered as well as a lot of science talk that I try to stay engaged with but they have a way of going way, way above my head, so at that point I start playing with a restless Daphne swinging her, talking to her in the tv which we pretend is a mirror and get her laughing and everyone starts watching her. I try to distract her a little so the docs can see her real personality and not the mouth hanging open veggie state baby that people she does not know brings out in her.

It’s her camera face aka paparazzi face similar to what Kim Khardashian posted of her daughter 😂

Next we met with a metabolic dietician and she did not provide any help at this appointment stating there is nothing documented in science that shows it helps. We have read a variety of diets, certain food groups and organic options that parents think help their kiddos, so I think a balanced diet is what we will stick to and seriously it’s not like she eats fast food or Mac and cheese and chicken nuggets. She is mostly veggies with some meat and fruit. If I ate the way she does I would be trim, but of course I can indulge in all the yummy fats she is not interested in.

If anyone reading this has any tips or favorite meals that are kid friendly (flavorful and homemade and relatively soft) leave me a comment please. Every weekend when it comes time to plan the weekly menu and go to the grocery store, I get stressed out! I love to cook, but finding he balance in what is good for Daphne and suitable for her two teeth (now 2 in fully and 2 half way in and 2 more poking through) and Adelaide and Rich and I who do not want not do we need to eat pasta that much!

We saved the dreaded skin biopsy for the end of the appointment. 😢

As a parent you can dig down and find an incredible amount of strength that you never knew was possible.

To hold you baby on her side while the Doc preps her leg for a surgical procedure, was not easy. She started crying just from him scrubbing her leg, before the bad part even started.

She did get a numbing shot that took foreve to get, stung really bad and I know hurt because he only poked her once but kept having to move the shot around to numb the entire area. I asked for him to go slow so it would not sting as bad and he said he would but due to the needle being so small, like a diabetic needle the lidocaine shot out in a stream not an easy drip so even if he went slow it would not always help. Argh!

I tried to maintain my focus on Daphne with my face mask on and play her favorite song, Farmhouse by Phish, and pacifier and her one and only game she likes but it only helped a little.

When the time finally came for the punch biopsy she did not feel it, thankfully. I watched them pull the little piece of skin out and put a piece of gauze over it and a clear sticky almost like ceran wrap bandage, that we get to remove today, and then he pulled the surgical cover off her leg that did take her skin off in one area. Poor bugga. She did scream and not like the antiseptic cleanser and the pressure from him applying the gauze. He said today we can just put a band aid on it but I don’t know how I feel about that. I will make that decision once I see it and luckily our friend and neighbor is a wounds care nurse and my dad a surgeon who always taught me (even though for years I swore air was better….yeah better for a scar!) that moist wounds heal faster and better!

All in all I think the clinic setup is good to get all specialists in one room together.

We DID meet the medical director of the group and he will be the main guy advising on supplements.

On the long list of inquiries we made about supplements, right now we plan to start a new supplement, N-Acetyl Cysteine, I will post about this soon. This supplement apparently smells and tastes like rotten eggs (oh great!) should be easy peasy to get into her.

Not!

We ran a blood test to get a baseline for this supplement that will go to Cambridge and then Stanford. The two places test different areas to get a conplete picture.
The skin biopsy will be studied at our hospital, a place in Cleveland and a place in the UK (post on this soon) and then some frozen for any future study we happen to find out about so we can grow some more fibroblasts and send it off without having to go through this again. That makes me very happy.

Of course we came home from the hospital with a sleepy baby and fed her a little lunch and gave her some Motrin to help with pain and swelling and Daphne did not sleep a wink, she has had Motrin one other time in the past and I think it did the same thing to her. A day where she really needed to sleep and we needed her to sleep to catch up on work, did not happen.
Daphne was up a lot the night before, feeling yucky I thought from teeth and probably so but also developed a cold. Her eyes were drained yuck at an incredible rate yesterday and this morning her eyes were crusted totally shut. Ugh! We were just off last week mostly with Adelaide being sick and now Daphne when she is going to be recovering from her procedure.

Off the the doctors we go today and fingers crossed she can make it a couple hours at the babysitter so we can get some work in and not get fired from our jobs for taking care of sick kids!

Here is my little sick bugga and her poor little leg