Inchstone Alert

Since Daphne cannot hit “age appropriate” milestones.

I decided to help her do something that most 13 months cannot do.

Drink from a STRAW!

She has not liked a normal sippy cup, except to chew on it and let the water run down her chin.

She has always loved drinking from a cup but the art of slowly pouring in the right amount of water to not gag her or not spilling it down her chest, well it’s great for sitting poolside on a hot day but not practical for everyday (yet).

I have talked to her OT about options and techniques, aside from siphoning water with a straw into her mouth like I had been doing and she loves it but I really wanted her to drink from a cup.  The OT suggested a little top to add to a water bottle and squeeze to help her learn but it leaked more water from the edges then what came out of the straw.

Then I found this article on Pinterest…..yes I love Pinterest and it’s my go to for just about anything.

I bought most of the cups in the article and others I found on her website.

I thought the first cup here  was the best because I could use it without the internal straw and it did not spill much and Daphne loved it.  I sent it to the sitters and showed her how to work on it with her.

Today I tried one of the other cups here which the blogger and the description of the cup said it has a magical suction when the lid is on that helps the liquid go up the straw faster.  My oh my were they right.

My little bugga can drink from a cup!

She does not have to lean back or have it tilted, she can drink it just like a normal kid. Take that “age appropriate” milestones.

This is 13 months!!

**of course I tried to capture it on video but she just laughed at us.  Little Stinker!

July 4th

We had such a great weekend!

We had some of our best friends visiting from WV.

The girls got to share in a special experience of Harry Potter World at Universal.

Adelaide and I (with Daphne in the stroller) ran our first 5K with Rich, Jen and Alex.

We got to watch some of our towns parade before taking our friends to the Airport and then enjoyed 4th of July festivities and fireworks at our Association.

Daphne was mesmerized with the fireworks and I have to say I was in aw over her until a friend who’s son has seizures said I wish I had given him his seizure meds before the fireworks…Yikes.

I then stopped Daphne from watching them so intently.  She does not have seizures but they could develop anytime and I don’t want them to start from silly fireworks.  IMG_2802IMG_2817IMG_2814IMG_2808IMG_2810IMG_2816IMG_2823IMG_2825IMG_2828IMG_2852IMG_2857IMG_2873IMG_2858IMG_4942

Super Proud

Adelaide is a GREAT daughter.

I mean absolutely Stupendous.

Words really can’t describe how great she is.

Of course I have always known this.

She is a Mini Me 🙂

She is really turning into a lovely young lady.

Lately she has challenged us so she has been helping out more with chores.

A couple of weeks ago she commented on being besties with the laundry room.

She is really great at making her lunch for camp and that is not a chore but she really loves creating her meals.

She also has her own personal style and is so confident.  She is sporting her hair as a donut for crazy hair day at Summer Camp.IMG_2776IMG_2770IMG_2768

Special Needs

A phrase I had a hard time with at first, but didn’t tell anyone.

I had a picture in my head of what I thought a “special needs” person looked like.

It was not pretty, it was like a vegetable state.

On a Facebook group I am a member of that term is the face of thousands of different kids who are all different and similar at the same time.

There has been a lot of discussion in that group in the few months I have been a member on whether our kids with the main symptom of hypotonia, some having a diagnosis or most being un-diagnosed are truly considered Special Needs Kids.

When I read my first post on this topic and some other posts, shortly after, I got freaked out and distanced myself for a little bit.

But I went back because I needed more information.

That group has been the most helpful group of any site I have found.

I do not think we would be where we are today had I not had the guidance and experience of those families.

So I have redefined and painted a new picture of what Special Needs is to me….

It is my daughter.

It is anyone that struggles to do the simplest of tasks.

Someone that may require special tools or equipment to help make their lives easier.

Someone that you take special care of.

So the next time you mutter the words special needs in a negative manner or you are just ignorant (sorry not sorry for my honesty) or see someone with a limitation, do not pass judgement, OR say in your head I am thankful that is not me or have a negative image in your head.

Re-define the word.

You are reading this blog because somehow you know my daughter and she is not a vegetable, she is the most loving little girl I have ever met that absolutely lights up at the sight of her Sister, Kitty, Me, Rich and Mara (yes in that order 🙂 ).  She commands anyone that is with her, whether it be by eye contact, grunt, scream, squeal, kick or a swat of the arm.

Be compassionate.

Be loving.

Here is my little cutie in some of her “special” equipment.

***Note none of this “equipment” is for special needs, it’s for “normal” kids but you figure out how to make your childs life better with just about anything.

I will have another post on the cost of a device or equipment for “medical” purposes.  I thought it was going to be in this post but like always I got on a rant and went down another path!

Cliffhanger…stay tuned 🙂

This neck float is amazing.  For those kids that it is hard to hold their head up all the time and need that weightless movement, this thing does the job!  Sadly ours got a hole in it over the weekend from I think our big water dogs nail (outside the pool, not on the babes at the time)  A little patch will tell if I need to order a new one.  In case there are any parents of special children reading, you can find it at www.otteroo.com.IMG_2124

This next little gem might be my favorite of all time.  Can I get one in my size please?!  I will not be able to slouch and those side bars are so comfy.  Of course a smart nurse developed it.  You can find it at www.snuggingo.com and here.  Please ignore me in the video.

 

Seventeen

In May after Daphne’s MRI results came in, we were told it was bad for her to fast or even go long periods without eating.  The thought is that the chemicals building up in her blood are also building up on her brain causing the brain damage aka white matter disease.

The Doc said she should not go more than 8hrs without food or sleep for more than that at night, but not to wake her to feed her.  I told him she usually sleeps 11-12 hrs per night and he still said don’t let her go more than 8 hours without eating but don’t wake her….

Clear as mud.  But when it comes to preserving your babies brain you are extra cautious.

So I challenged his 8hr timeframe because….

  1. Fasting for bloodwork is 3hrs
  2. Fasting for an MRI while breastfeeding is 4 hrs
  3. Fasting for an MRI on formula or food is 6 hrs

Daphne fasted for one blood draw and it was about 4-5 hrs by the time they drew it and her numbers were elevated in some areas and lower in others.

So Rich and I decided to wake her 1-2 times per night and feed her.

At first we tried 2 times per night but that did not go over well with her, she was tired, would not eat the 2nd time and most times stayed awake and was then up all night and sleep is important for the brain and development.

We finally settled at putting her to bed around 8, (some nights it’s earlier depending on her day) and waking her at 1:30 A.M. and then letting her sleep on her own till 6-7.

I wish I could say its been smooth but we have more rough nights than we do good nights.

At least it feels that way…[insert tired exhausted laugh]!

Sometimes she decides to stay up at 1:30 till morning, sometimes she decides to cry all night because she is tired but won’t let herself fall back to sleep, sometimes she just wants to party and other times she thinks the day should start at 4 or 5.

It’s ok, we get through it.  I look a little worse than before so I need some miracle beauty products…tips appreciated 🙂

Anyhow we take turns but when Rich travels it just about kills me, with working full-time and getting Adelaide out of the house, keeping the house going and taking care of animals.  With his upcoming trip I am going to try and be better and make Daphne be better.

I may have just jinxed myself but I hope not.

Anyhow the BIG ANNOUNCEMENT of this post is that Miss Sassy Pants is now 17 lbs 5 oz and 28.5 inches!!

That is a 1lb 1oz and .5 inch gain in 1 month!  (yes I took her to her pediatrician just for a weight check and plan to do it monthly)  The doctor was very happy and said keep doing whatever you are doing.

Daphne since eating table food has always been a good eater and her portions have only increased but the thing about Mitochondrial Diseases is it does not process her food or the nutrients completely.  I can only think that eating at night and completely resting allow her to absorb her food better with her body not having to spend energy doing anything else except for the automatic stuff like breathing, heart beating and maybe swallowing.

Here is the little chunk very proud of herself for sitting in the chair waiting on her therapist today!IMG_2718

Nerd Grade

Adelaide’s Last Day of 2nd Grade was last week.

This year has really gone way to fast.

Adelaide had a tough last day saying goodbye to her teacher.

Every year she loves her teacher which makes it easy for us, but this year especially,she really loved her teacher.

Adelaide did not know the stress Rich and I shared at the start of the year with Adelaide being placed in a combo class.

***Disclaimer***  I said yes to a combo class at the end of 1st grade thinking it would be a combo with an older grade and split…..really not knowing much and I asked her teacher and she said she would fit well.

Well it seems to be like drawing the short straw, or at least that is how we felt the day before school started when she got her class placement.

We went through the appeals process and tried to meet with the Principal but he would only accept an email so we got nowhere.

I was very pissed off and wrote off the Principal  (there were other incidents from the previous year that I was holding against him so don’t think I am bad from just one event).

We were really concerned with the psychological aspect of her not feeling like a true second grader, not following the same curriculum and feeling alienated.

We met with her teacher to understand the structure of the class and voice our concerns. This was Mrs. Gilbert’s first combo class ever and she is a young teacher so we did not know how this was going to work, especially with 8 2nd graders and 23 1st graders.

The school year had it’s challenges with sitting at a different table at lunch from her friends, having to do school work outside while the 1st graders had a recess the 2nd graders did not participate in, having the other 2nd grades work on subjects and projects that she was not working on and so on.

But what it did provide her was self motivation, excelling her skills to work independently, no classroom behavioral issues, a since of pride knowing she was in a select group, the ability to have class outside when no other class could do that and not be held back by various skill sets a large classroom has with there just being 8!

All in all it was a good experience but Adelaide told Rich one day at the end of the year she would like to be in a normal classroom next year.

So…we wrote the teacher and explained how thankful we were for her but she wanted to go back to a traditional classroom and she replied with the principal on copy (UGH!) complimenting Adelaide on being the “type” of kid that does well with this style of learning but she understood our request.

I told Adelaide that we asked she not be placed in a combo class next year and she said “i like it and would like a combo class again”….seriously kid….[smack forehead].

We will just have to see how it plays out now.

She is onto NERD grade Next Year!

I forgot to take her picture on her last day so here is a picture shopping at Nordstrom the week before 🙂

IMG_9893IMG_2428

Father’s Day Weekend

We had a Great and Relaxing Father’s Day Weekend.

Rich and I finally got a Date Night Friday, it seems like it has been forever.  We had a very yummy dinner at Dublin 4 Gastropub with craft cocktails.

We tried to catch some live music at our soccer teammates Bar but we missed it, so instead we hung out with she and her hubby.

It was a Fun Night!

Until…..

Daphne decided to stay up when I woke her at 1:30 A.M. for her bottle (I was so tired) till 3 then I woke Rich and he stayed up with her until 6 (I think he said he fell asleep on her floor) then I was back up at 6 till 7:30 and finally we all went back to sleep until 10:30.

Adelaide slept through it all, lucky girl!

Then Rich got his first Father’s Day present…Family Pictures on the Beach!  He was not excited but I was.  We used the same photographer from Daphne’s newborn photoshoot and she is just amazing!

Sunday we went to Souplantation (Adelaide’s favorite) for breakfast.  It was pretty gross.  I like the normal menu but they did not do well with breakfast.

After Rich and Daphne took a nap we went to our neighborhood pool association for a cookout and swimming.

It was a very hot weekend, Sunday it was 102 degrees and today 108.  That is not normal for around here and I look forward to the hot temps leaving and our perfect California weather coming back.IMG_2692IMG_2701

 

Transition

On Monday we had our first appointment with the Metabolic Doc since we received the Diagnosis.

As Rich said you could see us transition from diagnosing to CARE.  This was a little hard for me to accept.

I mean we have been caring for her everyday and just because they put a name to her condition, doesn’t change how we CARE for her.  The docs may be smarter than us in knowing what to expect but I will not settle for that.  I will not just wait for the symptoms to appear.  I plan to help Daphne defy the odds and have the best possible life she can.

Ok…I’ll try to hold my anger back a little.

I actually was not too angry during the appointment.  It was the first time I actually liked this Doc.  He seemed to have more compassion and cared about Daphne.

They watched her laugh and giggle the entire appointment and she even drank a bottle in front of them.  She likes a quiet place for eating, including meals, she is easily distracted.

They said she seemed more interactive and happier than before.  Which we agreed.

We discussed the next steps.

It appears we will now be seen by the Neurometabolic Clinic which is a group of specialists all needed to care for Daphne.

Neurologist, Dietitian, Nutritionist, Social Worker and Metabolic Docs to name a few.

We asked about current supplements she is on as well as other supplements we have read about or heard other mito kids are on.

Our metabolic doc is not too knowledgeable on supplements, so I hope the Dietitian or Nutritionist will be.

We asked about emergency preparedness plans, general treatment plans because mito kids are different and cannot take some antibiotics and if there is an incident of anything we will know exactly what bloodwork to run and what IV fluids to use (the norm does not work for mito kids, it can actually make them worse), next MRI, bloodwork, testing for Rich and I and the skin biopsy.

The Doc said we can wait approx 1 year for another MRI (unless she has a change) so Daphne can have time to produce more Myelin (the white matter in her brain).  Apparently some newborns do not have much Myelin which is why they have Parkinson like symptoms and kids produce most of their Myelin by age 8 but can continue producing it until age 20.

We will take a skin biospy sample from Daphne in the new clinic once we get an appointment which will help them better understand how her body is functioning.  SO they say and they better be right for me to agree to punch a hole in her.

Rich and I will get tested for the genes that Daphne has to one see how our family will be impacted and to help them understand more about Daphne.  After Rich and I are tested then our parents will get tested.

Daphne not only has the two mutated EARS2 genes which is rare but 4 other genes that are rare but luckily she does not have the pair to make them a problem.  This information is pretty unreal!

There is a National Symposium in Seattle starting today that Rich and I were talking about attending but decided not to this year.  He wanted the science portion and I wanted the family stuff and we did not want to travel with Daphne and have a lot going on here so we are sitting it out this year.  Our San Diego Doc and our Genetic Counselor are both going so I hope they bring back information for us.  I know it will not be the same as if we are attending but it will have to do for now.

There are two great websites full of more information than you could possibly want:

http://www.umdf.org and http://www.mitoaction.org

UMDF has a mito_first Handbook that explains Mitochondrial Disease

MitoAction has a good Mito 101 Handbook as well but I cannot find it again.

Desiree

Strength

We would like to Thank everyone for all of the support received on Daphne’s Diagnosis.

I keep hearing “I don’t know how you do it” and “You are so strong.”

I honestly don’t know how to say we are doing it other than taking each day at a time, looking for anything positive, hoping for the mildest case, advancing science and a Miracle.

I still can’t explain the feeling I have with her diagnosis.  I feel a little at ease I think because we are not exhausting ourselves searching and looking at her for any little sign or change to point towards something, anything.  Call me crazy but in the back of my head I still have this little push that maybe they are wrong and it could be something else and to not close the door and just sit down and take it as is.

Now I think I am looking at anything positive she does and saying “hey this is what normal babies do.”  We are learning to help her excel and grow in areas she can control.

If you see Daphne, besides her hands and arms when she is excited, she has a normal appearance.

Rich and I have a divide and conquuer method for helping Daphne, based on what we each do best.  Rich the research and science and me the reaching out to families and groups.

I am trying to reach out to other parents who have kids with mito, a pediatrician that knows mito since they care most about the well-being of the child and having knowledge on the disease is huge and I am sure more helpful than the specialist who is very by the book scientific not warm and fuzzy.

A mito mom shared a method with me that I think is very interesting and I think will work, I am looking into a local person and will keep you all updated on the process: http://www.anatbanielmethod.com/children/children-with-special-needs

 

 

Diagnosis

Yesterday we got the call that the results were in from Daphne’s genetic test.

This test was drawn in April with her normal blood work and we did not know that until mid May (trust me it’s a story and a process to get this test done) and thankfully because only waiting 2 weeks was tough, I can only imagine what 6 weeks would have felt like.

We were a house divided on what we wanted to see.

I did not want a result, continuing my same mentality that if “we” don’t know then it’s nothing serious.

Rich wanted a result to know what path to go down.

[Insert sense of humor] I hate being wrong or proved wrong!

The test told us that Daphne has Leukoencephlopathy with thalamus and brainstem involvement (LTBL), also called tRNA.  It is a mutation of the EARS2 gene that she inherited from both Rich and I (we are both recessive carriers).

Now I cannot explain the above yet and do not even know if we call it tRNA or LTBL or what.  We will meet with the doctor on the 16th to understand it more.

I have not even read anything because I can’t describe how I feel, I don’t know if this is numb what I feel, I haven’t broken down crying yet, I get tears in my eyes but its not like before.  I don’t know if it will take time, if it will take me reading articles on it or if I have a sense of feeling at ease knowing we have a path to go down and become experts in.

I will say that as much as I hated things about Dr. H from my previous post he diagnosed Daphne with this mitochondrial disease before the test results were back.

This is a rare disease.  I do not know the numbers yet but I think the number of people in the world is very small.

I do not understand how both of us are carriers of something so rare with no family history.

There are percentages of who else in the family can be impacted by this for their plans to have a family and our chance if we were to even think of another child but we have only read that online and not talked to the genetics doc about this so I won’t write anything on the unknown.

Below are some articles or genetic counselor sent us in case you wanted to read and not get lost googling.  I have not even read these yet.

20160603151557958 [14469]

mitochondrial tRNA synthetase review article [14467]

Zevani article [14468]

Thank you for your continued thoughts and prayers!

Desiree