3756 days.....

Today Kira is 3756 days old.  

For 3756 days we have known that "something" was different.  

That was clear at when she went into surgery at 1 day old for a birth defect that about 1 in 3000 babies are born with.  

The "strange" medical things just kept coming.....her chloedochal cyst at 3 years old was 1 in 100,000 that a 3 year old, white, female would have.

For 3756 days we have not had an official diagnosis for Kira.  We've heard a lot of "I think we're headed in the right direction" and "We might be onto something now."  We've heard that more times that I can count.

We are fortunate to have a great team of doctors who keep looking and keep thinking about any stone left unturned to find answers for Kira's medical concerns.  They haven't given up and that's a good thing.

Today we had an appointment with Kira's genetic doctor to get the results back from the whole exome gene test.  Since we had the blood drawn on December 26, I haven't thought about the test a whole lot.  Here and there I would think about it but for the most part, I really didn't think about it.  As today got closer, I did think about it more.  

Going into this test, her neuro and genetic doctor thought that we had a good "lead" when the Mestinon medication was working for well for Kira.....for both of them, that pointed to a possible Congenital Myasthenic disorder.....today we found out that Kira does not have ANY form of a Myasthenic disorder.

Today we did not get a diagnoses for Kira.

Today we got more questions and more unknown.

Today we found out that Jason and I are both carriers of a gene that CAN cause Limb-girdle muscular dystrophies.  We also found out that Kira has changes in this same gene.  Kira also has "many" other gene variants that can be the cause of different forms of muscular dystrophy.  Jason and I were both a little "unsettled" by the number of times that muscular dystrophy was used today.  It's a direction that had never been looked at because Kira has had normal CK levels.  High levels of CK indicate muscular dystrophy.  There are only 1 or 2 forms of muscular dystrophy that Mestinon has been found to effective for.....the gene that both Jason and I have is one of those.

But even with all of this....there is not enough evidence/proof that Kira has a form of muscular dystrophy.....and the normal CK level.

Her doctor did say at one point that we COULD be looking at the diagnoses and that this COULD be something. (Gee, have we heard that before??)

We did make the decision when we had this testing done to get very, very limited information back that was NOT directly involved in a diagnoses for Kira....but we did get some information back today.

We also found out that Jason and I have variants in 1 gene each in that are directly related to the heart  (LMNA and TNN).  Because of this, the doctor recommended that we all (kids included since there is a 50% chance that they could have have variants in one or both of these genes) have echocardiograms done.  We will be doing this soon because "it's better safe than sorry," right?

Today has been an emotional day for me.  I'd like to stand in the middle of the floor, put my hands on my hips, pout and say, "I just want answers."  Oh wait, maybe I did that today already. :-/  And I ate chocolate! :-/

Tomorrow is a new day......it always takes me a few days to "process" after we have a meeting where there is hope for a diagnoses or after we get news like today.  I'll process.....then move on and be thankful that Kira is happy and a fighter!!

Someone stop this crazy ride!!!

Today was Eva's allergy appointment and I have to admit that I did not go into it feeling the best.  Call it "Mommy gut" or whatever...I just didn't have a good feeling.

Well, we've been done with our appointment for about 2 hours now and I still feel like I'm on some crazy ride.  I am starting to really believe that Eva's food allergies are going to be a life long "thing" for her.  She just can't seen to catch a break.

Today she was officially diagnosed with Oral Allergy Syndrome (OAS).   

Oral allergy syndrome, also known as pollen-food syndrome,is caused by cross-reacting allergens found in both pollen and raw fruits, vegetables, or some tree nuts. The immune system recognizes the pollen and similar proteins in the food and directs an allergic response to it. People affected by oral allergy syndrome can usually eat the same fruits or vegetables in cooked form because the proteins are distorted during the heating process, so that the immune system no longer recognizes the food.

Oral allergy syndrome typically does not appear in young children; the onset is more common in older children, teens, and young adults who have been eating the fruits or vegetables in question for years without any problems. Those with oral allergy syndrome typically have allergy to birch, ragweed, or grass pollens.

Most of Eva's foods are in the birch pollen group: Peaches, plum, apple, and celery.  She also has kiwi, mango and pistachios.  The last 3 are not "officially" on the list but her allergist says that they are becoming more and more common.

She also cannot have honeydew (grass pollen).

With OAS, many people can eat some of the foods in these groups if they are baked.  However, her allergist was not comfortable with Eva trying that at this time for a couple of reasons..... 1) She's only 5.  A 5 year old cannot "be trusted" to necessarily give us enough information to know if it's really safe for them or not.  And 2) Eva have a very severe reaction to apple in the fall.  His concern is that there is the possibility that she could be in the very small percentage of people with OAS who can have more severe reactions to some or all of the food.

So for now peaches, plums, apples, celery, kiwi, mangos honeydew and pistachios are added to Eva's "not safe" list.

As if that wasn't enough for me to process today.  He also said that because of some symptoms Eva has been having he feels that we need to not allow her to have any forms for sesame.  (This has been a gray area for Eva's allergies....sometimes it's fine and sometimes it not.)  Eva eats a lot of a hummus and I THOUGHT the brand we had was okay since she hadn't had any obvious reactions but we will go back to making her hummus that does not have sesame in it.

WAIT...I'm not done yet.  Wheat has also been a "gray area" for Eva and again, with the symptoms that Eva has been having, we are going to back to really watching how much wheat she has....no more than one SMALL serving a day and some days having none.  For now, we will let her have her wheat serving at school if there is crackers, etc for snack...but none other than that. Just writing this is making me remember what a challenge this was before....I'm not really looking forward to it but more than anything, I just want Eva to feel better.

He also officially diagnosed her her with chronic urticaria (hives).  She still gets a few hives several times a week.  It's likely environmental.

So as of today.....Eva has 12 foods that she cannot eat at all and one that we have limit big time.

I think that I had better make a list on my phone of all these foods because honestly....I'm not sure that I'll remember them for awhile.

I was pretty darn nervous thinking about sending Eva off to kindergarten next year and today's news has done nothing to calm my nerves.  Not one bit.

(Sorry if the fonts are crazy on this post...i've been trying to fix it and cannot figure out what is going on!)

Throwback Thursday

What can I possibly say?  She was just over 3 years old but it was still 8-9 months before she really was walking independently!  (and yes, I was bawling!)

Reflecting.....

I can't help it.  I ALWAYS get "reflective" this time of year which I think that any mom would say they do around their kids birthdays.  For me, it brings many emotions and for some reason, this year, it seems to be a little more "there."

Sometimes I feel like I'm watching a video of Kira's first 24 hours of life.  First it's the shock that she's really here, calling parents in the middle of the night, friends coming to visit, my parents coming, and just looking at her in shock that she was really ours.  And when I get to midnight when I called Jason to tell him that Kira was going to special care but he didn't need to rush back......yeah right...I've never been so relieved to see him come through the door.  I vividly remember being in special care and being terrified watching them trying to get an IV in her and only being able to find access on her head.  I remember them saying they needed to watch her and get some X-rays.  Sometime in there they actually convinced me to go back to my room and try to rest since I hadn't really slept  in well over 24 hours.  I remember being kind of a sleep and the the NICU dr coming in saying they had to put her on a ventilator and that a surgeon would be up to talk to us soon.  I also remember REALLY waking up when I heard the word surgeon.  Thank goodness we had a caring, wonderful surgeon who knew he was dealing with an exhausted, hormonal new mama.  I remember him leaving the room and just looking at Jason, both of us in shock and in tears.  Our 22 hours old baby girl was already on her way to the OR for a major surgery....that's pretty much all I could process at that moment.  The next 9 days are a blur.....not being able to hold her was the hardest thing ever.  I can't tell you how many times over those days I cried....it.was.alot.

This time of year always makes me stop and think about everything that Kira has been through.  It's not a bad thing but it still blows.my.mind when I start to think about the last (almost) 10 years.  Believe me, i KNOW that there are kids who have been through way, way more than.....it's just thinking about what she's been through and continues to have to deal with.

I think this year, more than other years, I've been thinking about everything because of where we're at right now.

This fall we were concerned about how tired Kira was on a daily basis.  We tried to have her do all full days at school but we quickly figured out that she just couldn't do it.  We went back to Thursday being a half-day and it seemed to help some.  Kira was still BEGGING to go to bed by 6:30 every night and she would sleep until I woke her up at 7:15 the next morning.  Jason and I got concerned enough after a few weeks that we started reaching out to doctors that we hadn't seen in a quite some time to see if they had any thoughts/suggestions/ideas.  (I should add that we didn't stop seeing these doctors because of problems.....it was just because they were out of ideas and none of us felt like it was productive use of anyones time to continue coming to see them regularly.)

We were able to see Kira's neurologist in late October  who wanted to try her on a new medication, Mestinon, that is typically only used in kids who have some form of a Congenital Myasthenia.  He felt strongly that even though the test haven't shown that Kira has any form of this, it was worth trying since they are finding more and more forms all the time that aren't diagnosed the typical way.  Well, long story short, we've seen incredible improvements with this medication for Kira.  More energy is a big thing but she's had to colds that stayed just colds.  (This is HUGE for Kira....HUGE!)  Sooooo......

In the middle of trying this medication we also met with Kira's genetic doctor and talked with him about doing a new gene test.  He felt strongly that we should proceed with this test but, of course, we had to get insurance approval to have it done.  FINALLY, December 26th, we were able to get this test done....whole exome sequencing.  Kira, Jason and I all had to have a blood draw done for this test  so finding a time that we could all do, together, was a bit challenging but now it's done and we only have to wait 15-18 weeks to get the results. ;-)

Also, in the middle of all this stuff, Kira had neuropsych testing done.  She had it done a couple of years ago but for several reasons, we decided that this was a good time to have it done again.  We were very fortunate that we were able to have it done with the same person again.  She is wonderful and Kira really does well with her.  When the results came in, I have to admit that I wasn't terrible surprised with the results but as a Mom, my heart broke a little too.....Kira was diagnosed with high-functioning autism.   I had my good cry...okay, cries but ultimately it comes back to something that that I've said many, many times.....

Kira is still Kira.
No diagnoses is ever going to change that.  
She is still the same girl that she was before this diagnoses came around.
She still makes me laugh.
She still makes me crazy at times.
She's still Kira.
She's my Kira.

I guess what it comes down to for me right now is with everything that Kira has been through......she is doing REALLY good.  She has an INCREDIBLE team at school this year.  They have her best interest in mind with every decision they make.  NONE of them were surprised by the autism diagnoses but agreed that this would open up more doors for help and support that will help her.

We've been through a lot of crap in the last 10 years.  And, unfortunately, it likely won't end anytime soon.  I still hope and pray that someday it will get easier for Kira to deal with the "medical crap" in her life.  It's not easy and if I were her, I would be pretty ticked off too. :-)

Kira,
I don't know if you will ever read this blog or this but I want you to know how proud of you I am.  
You work so hard to do so many things in your day.  But I hear so often from your teachers and therapists that you don't give up.  You have come so far in the last few years.
You are a sweet, loving, incredible girl.  
I am so proud of who you are becoming.  
You are a fighter!  
You are going to do some great things in your life.  
You are an inspiration to so many people.  People have told me time and time again how you amaze them with who you are!
I cannot believe that you are 10 year old!  No matter what you say, you will forever be my baby!
I love you Kira...I love you more than you will ever, ever know.