Happy Rare Disease Day!

Hi Friends!

We found out a few weeks ago that International Rare Disease Day was Feb 29th this year, so we ordered our shirts and got ready! Here are a few pics from today of us sporting our shirts to help raise awareness of hypophosphatasia (hpp), talk about how it's affected our lives, and the importance of people reaching out so they don't feel isolated.

It was so fun to look at all of the pictures on facebook of people Evie's age and older, to see how she might progress as she grows. We are blessed to have an active community with so much loving support (:

Hope you all had a blessed day as well!

Love, the Elsaessers (:

She sleeps!!

First of all, Evie finally feels better... Praise God and thank you for your prayers!!!

That being said, we decided she could go back to sleeping in her own room last night. We all thought that was a great idea except Eve of course ): so we let her cry it out for a while and after a few reassurances and drinks of water she finally fell asleep.

I woke up this morning to the sound of the girls chatting about what to do today (: Evie had woke up, got herself out of bed, crawled to Lylas room and woke her up! Lyla got herself dressed and put Evies shoes on over her braces, it was just the sweetest thing.

She is already asleep in her bed tonight, I am praying it goes as well as last. Thanks for your prayers and words of encouragement they mean the world to us when we are exhausted and down.

Love you friends (:

answers...?

I was going to title this post "so many answers" as a sarcastic response to our appointment this week, but I didn't want to get anyone too excited (:

Evie's pulmonology appointment this week went okay. She has been super sick with an upper respiratory virus for about two weeks so it was a good time to see the Lung doctor. He doesn't think that the breathing issues that Evie is having during her seizures is a lung problem and has recommended that we see a cardiologist. We are waiting to hear from their office. He thinks that if she is having abnormal heart rhythms while she is seizing that may be why her oxygen saturations drop so quickly. We did a quick EKG at his office so we have a baseline for future reference.

Eve has been coughing, gagging, and fevering for about 10 to 14 days, hence my lack of blogging. I feel really bad for her. She is slowly getting better as some new steroids kick in and help open up her airways. When she's sick she prefers to sleep with John and I, needless to say we are all a little tired (: Someday maybe Evie's geneticist, pediatrician, pulmonologist, neurologist, neurosurgeon, plastic surgeon, orthopedic surgeon, opthamologist, ENT, (soon-to-be cardiologist), physical therapist, occupational therapist, speech therapist, and services coordinator can all get together and figure out the mystery that is Evie (: Actually, that would take away the pure joy we have at watching her grow into her own little self every day.

Thanks for loving us and checking in. Hopefully I will be back with good news of good health very soon!

Lindsey

"spells"...

Hey Friends,

We finally saw Evie's neurologist this past Thursday, the results were a mix of good and bad.

The neurologist is "fairly certain" that these spells Evie is having are seizures. They get worse when she's sick, better when we up her seizure meds so that would lead us to believe they are seizures.

Evie's EEG the morning after her day of seizures on the 23rd was actually not normal. The hospitalist told us that it was "normal for Evie" yet her neurologist said they were comparing it to the EEGs that she had during the first months of her life when her EEGs were anything but normal. She is having some "spikes" and "abnormal brain activity." Not great. We are scheduling a follow up EEG to make sure we're not missing anything.

My main question was why these seizures are causing Evie to stop breathing. Her neurologist said that seizures can cause shallow breathing or delayed breathing, but she shouldn't desaturate as quickly as she has been. She thinks it could be a heart/lung problem so we see her pulmonologist on the 21st of Feb.

The only good news from our appointment is that Evie's condition in general isn't declining. She isn't "getting worse" overall. If all of her body systems were declining we would have a problem, but in every other area she is improving so hopefully this just means she needs more of her seizure med.

I'm a little unsettled. I hope her heart and lungs are okay. We will see on the 21st.

Thanks for praying for us (: Evie is a light in our life and we are blessed to share her with you.

little comedian...

This is what I saw after I sent my last post... if she could talk I'm pretty sure she would say "Chill out mom, I'm fine" (: love her.

on the upswing...

Hi Friends (:

We have a neurology appointment scheduled for February 13th and I am feeling more positive in general. Evie should have had a neurologist come see her while we were inpatient last week, and the nurse I spoke with on the phone today assured me that it was a mistake that they didn't come by. Evie's neurologist checks her from head to toe, so I am feeling better about that. Plus we just plain like her (: We might stop in and see Dr. Pat (her pediatrician) in the meantime, just to make sure I'm not missing anything. She seems to be running a low fever on and off.

I don't always like to post things about my fears with Evie, but I feel like it's an important part of her story. I've realized that parents are going to have worries about each of their children in different regards, whether they "disabled" or not.

Thanks for loving us (:

Fears...

Is there anything worse than being fearful? Fear has been an underlying companion these days as we watch Evie closely. She seems to be doing fine with some odd behaviors here and there. For example, she slept a lot today... is she seizing or just growing? she was zoning out in the car... is she not breathing or just a little warm?

Like I said last week, Eve has never had more than one of these apnea/seizure episodes in a day, having 6 in one day last Monday was terrifying. I felt myself constantly thinking "is her condition getting worse?", "are these episodes worse than usual?", "are we doing the right things?", "is this the beginning of the end?" We are content in knowing that God knows the number of our days, but that doesn't mean we are ready for that.

All in all, things seem to be normalizing in her little body, just not in her mother's heart. I am being overprotective. I ask her if she's okay every 5 minutes, watch her breathe constantly and tell her I love her 100 times a day. I know God is in control and I need to loosen my grip, but wow is that hard to do when pictures of her struggling to breathe are racing through my mind.

Thank you again for your prayers. We will have pulmonology and neurology follow-ups this month, I will let you know how those go.

Praying for Gods many blessings to each and every one of you (:

Joshua 1:9
9 This is my command—be strong and courageous! Do not be afraid or discouraged. For the LORD your God is with you wherever you go.”