Why we celebrate one of the worst days of our lives

Today we celebrate the day that Ellie survived a massive stroke.   It may sound strange to some that we would celebrate a day that will forever be etched in our minds as one of the worst days of our lives.  That morning I had dropped Payton and Ellie both off at preschool.  Ellie had just started preschool and she was still upset during drop off times so it wasn’t surprising to me that she was crying when I left her.  I went from there to the grocery store and while there, I received a call to come get Ellie because they were unable to calm her down.  I went straight to her school and brought her home where she continued to be inconsolable.  Ellie has had many days like this in her life and since we know that migraines are a common symptom with Moyamoya Disease, that’s what I thought she was experiencing.

A couple hours later I was able to get Ellie to fall asleep in her crib for a nap.  But only about 20 minutes into her nap I could hear her screaming again.  I went in to get her and the second that I saw her, I knew she had suffered another stroke.  She was trying to sit up but she couldn’t and was struggling on her stomach, flailing about like a fish out of water.  I called 911 and when they got there I had to hand Ellie off to the paramedic so that I could grab Payton out of her bed and into the ambulance with us.  

At the hospital Ellie’s condition continued to get worse.  She was still extremely agitated but her body was limp like a rag doll and she lacked the ability to support her head, her eyes unfocused, she was nonverbal, and around 5 p.m. she started having seizure after seizure.  Because UTMB is unable to get an IV in Ellie, we could do nothing but wait for hours for the TCH kangaroo crew ambulance to come get us.  It was horrible watching her have all those seizure with no one doing anything to help her.  Around 8 p.m. the TCH ambulance crew, who had been on the job for the past 14 hours and had traveled across half the state that day transporting patients, arrived and was able to get an IV going and transport her to Houston.

Once at TCH they rushed Ellie into an MRI.  From the MRI we were given the news that Ellie had suffered a massive stroke, affecting 2/3rds of the left side of her brain and blocking 2 major arteries.   We were warned that unfortunately with a stroke this size, Ellie was likely to get worse because the swelling in her brain would continue to increase.

And things did get worse.  Ellie’s neurosurgeon, who has performed over 120 Moyamoya surgeries, said he had never seen a case as severe as Ellie’s.  We asked if he would call Dr Scott of Boston Children’s Hospital to see if he had ever seen a case like this and what he would recommend.  Dr Scott said that he had only seen one case that sounded like Ellie’s and that child didn’t make it.  

That day was terrifying.  We knew we could lose Ellie at any moment.  The following days and weeks were equally as scary as Ellie continued to have smaller strokes, seizures, and eventually underwent an extremely risky brain surgery that ultimately saved her life.

But we celebrate this day because God brought us through it.  It wasn’t the last day we would spend with Ellie.  We don’t know why we eventually got to take Ellie home from the hospital when plenty of families never do, but we are forever grateful for every single day we are given with our children. 

And while there are parts of Ellie’s recovery that have been heartbreaking, there has also been so much joy in watching her reach new milestones.  Most mothers only get to experience the joy of their child saying “Mama” for the first time---- I got to experience that joy twice when Ellie learned once again to say my name.   And we got to watch her learn to walk twice as well and it was even more exciting the second time around.  

If you’ve ever been around Ellie then you’ve been around a true miracle.   She is proof that God still performs miracles today.  Why wouldn’t that be worth celebrating?

The tough topic of life expectancy with a rare gene mutation

Recently a research paper was published about the genetic mutation thought to cause Ellie's Moyamoya Disease, heart problems, and other issues.  This is only the 2nd paper ever published on what is an extremely rare mutation.  The geneticists could only find two people with this mutation to use for the study---- Ellie and a 28 year old man.

While we knew the study was being conducted, it was a Google search I did that brought up the paper that the geneticist herself didn't even realize had been published.  So after a quick request to the geneticist, the research paper in its entirety was sent to us.

Even though I didn't understand all the scientific terms, I was really excited to read the details about Ellie's genetic mutation and I was as equally interested to read about this other man who shares the same genetic mutation as my daughter.  So I was sitting there reading about the 28 year old man and noticed all the similarities that he and Ellie share.  He had an ischemic stroke and then was diagnosed with Moyamoya disease.  Like Ellie, he had hypertension and suffered from migraines and a history of seizures.  And I noticed the differences too.  Most notably his diagnosis of achalasia (trouble swallowing) that was diagnosed at age 4, which is a condition that was present with 100% of the patients in the previous study but is something that so far hasn't been an issue for Ellie.

Then I read it and it hit me like a brick wall.  "This patient died in his sleep at the age of 28 years.  No autopsy was carried out to determine the cause of death."

I felt sick.  I felt shocked.  I felt fear.  I haven't been able to stop thinking about this man ever since.  This man, who has no name to me besides his research name of "MM041", but who shared my daughter's same mutation.  If he could die in his sleep, who is to say the same won't happen to my daughter?  This hits on a sensitive subject for me because for awhile now I have had this fear of her passing away in her sleep.

I'm not sure which of these experiences, or a combination of all of them, have led to this specific fear.  Ellie's second stroke, the one that almost took her life, happened when she was napping and I went in to the room to find her in that condition.  Then a couple nights later, while in ICU, I had just fallen asleep next to Ellie when our nurse started telling Ellie to wake up and take a deep breath.  Then her oxygen alarm started going off and our nurse yelled for another nurse, who came running, and they started desperately telling Ellie to breath.  Another time, Ellie had a procedure done under anesthesia and while waking from anesthesia she stopped breathing.  I was standing next to Ellie and I started yelling, "She's not okay!  She's not okay!" right before her alarms started sounding.  This time her lips turned blue and encouragements to "Breath, Ellie!" weren't enough and the nurse had to provide bagged rescue breaths to get her to start breathing again.  Both of these incidents involving her breathing have been attributed to seizures.

Also, when Ellie is awake I find myself constantly assessing how she's doing.  Is she walking as well as normal?  Is she having trouble using her good hand?  Does her face look symmetrical?  How do her pupils look?  Was that jerk voluntary?  Did she just trip and fall or is something wrong???  This is the chatter that's ongoing in my mind as I watch Ellie throughout the day but I can't observe these things when she's sleeping.  All I can do is to check that she's breathing, which I do several times a night and then pray that she is okay.

Beyond the initial shock that MM041 passed away in his sleep at the age of 28, my mind screams, "Why didn't they do an autopsy?!  Why am I left here to spend my nights lying in bed thinking, 'I bet he had a stroke.  It had to have been a stroke.  But maybe it wasn't.  Maybe he had an undiagnosed aortic aneurysm.  Maybe it was a seizure that caused him to stop breathing.  Or could it have been something completely unrelated?'"  Oh how I wish we knew!  But we don't and we can not know.

Ellie's genetic mutation is so rare that she is literally writing the textbook on it with her life.  We can't Google things like "GUCY1A3 life expectancy" and expect an answer because it hasn't been studied.  There are no answers and while the uncertainty of her illness is sometimes a tough pill to swallow, I think it's also a blessing because the fact of the matter is that no one's future is certain.  None of us know if we will die tomorrow or live to be 100.  But I have to believe that God has big plans still for Ellie's life.  Things were looking really bad for Ellie and even the utmost experts on Moyamoya Disease were not sure she would survive.  And yet here she is, doing way more than just surviving but truly thriving.  While I can't help but worry about my little girl, I know God is in control and I look forward to continuing to see the plans He has for Ellie's life.  Not plans to harm her but plans to give her hope and a future.

Skyler is ONE

Skyler at 1 year:

 

Height:  28.75" (34%)
Weight:  21 lbs 15 oz (63%)
Clothing Size: 12 months
Shoe size: 3
Favorite book: "Where is Baby's Belly Button?"
Favorite toy: Hot wheel cars
Favorite song: Watch Me (Nae Nae)
Favorite TV:  Frozen
Favorite food: Cheese
Number of teeth: 5
Can say: "Bah" for bye
Can do: Can crawl, pull to a stand, wave, clap, and give kisses

 

Dear Skyler,

Happy 1st birthday, sweet baby!  It's so hard for me to believe you are 1 already because it really does feel like you were just born.  At home you are called "The Baby" as much as we call you "Skyler".  This is in part because "beebee" is one of the few words that Ellie can say but also because you are and always will be the baby of our family.

I think back to this day a year ago when you were born.  I was so afraid.  Would I be able to care for you and for your sisters, especially with Ellie's health problems?  Would I be able to give you the love and attention you deserve?  I hope that when you are old enough to read this that you will know that I did my best and that you will forgive me for my shortcomings.  Thank you Baby Girl for how easy you have made things for me.  You have been nothing but a little angel.  A sweet, sweet baby.  You are a joy and a shining light in our house.  Beautifully simple and simply beautiful.  After everything our family has been through and continues to go through, God blessed us with the most perfect little baby a family could ever hope for.

If I could freeze time to this very moment, I would consider doing so.  The way you fit perfectly in my arms as I hold you and watch you fall asleep.  Your little chest rising and falling and I feel the warm little puffs of air as you breath.  Your super soft skin against mine.  I look down at you and your beauty literally takes my breath away.  You wake me up a couple of times throughout the night to nurse and while a full night of sleep might be nice, I don't mind because I know these moments are fleeting and I'm going to miss them when they are gone.  

I adore your smile and your laughter.  All it takes is a simple game of peek-a-boo to win a smile from you.  And I love the way you clap anytime you hear someone say, "Yaaay" or when you see others clapping.  And oh your cheeks!  I'm sorry Baby Girl, but you have the most kissable cheeks I have ever seen.  I'm certain I kiss your cheeks 100 times a day.  

You love music and it makes me laugh to see your excitement when Daddy puts on one of your favorite songs like the NaeNae.  We hold you in a standing position and you dance and dance.

I love the way you love me.  The way I ask for one kiss and then I can't get you to stop kissing me over and over.  You were giving me numerous big, wet kisses at Taekwondo the other night and a man sitting behind us said, "She sure does love her Mama!"  Thank you from the bottom of my heart for your love but I will always love you more.

I'm so proud of the little person that you are and although I would consider freezing time if I could, I don't think I would because I look forward to watching you grow into the person that you will become.  I have no doubt that your sweet, gentle nature will take you far in life.

Skyler, you are sweet, patient, loving, and the most adorable baby ever.  What a beautiful and perfect gift you are to our family.  I love you so very much!  Happy Birthday,  Baby!

Love,
Mommy

For Skyler's birthday, we had a play date at our house with some of our good friends.  The play date had a "Frozen" theme and so the kids dressed up as their favorite Frozen characters and made snowmen out of marshmallows.  Then that night we ate cake again and let Skyler open her presents.

The big kids were having fun, laughing loudly, which scared Skyler.

Eating birthday lunch

Sippy cups as the party favor and Frozen dolls as decoration

Do you want to build a snowman?

Building their snowmen

Snowmen are tasty

Birthday princesses

Snacks and Frozen plates/napkins

 

Singing Happy Birthday

Cookie Cake!

About to sing Happy Birthday again after dinner

Sister enjoying the cookie cake

Happy 1st birthday, sweet Baby!

Summary of Ellie's recent neurosurgery check-up

Ellie just had a 3 month follow-up appointment with neurosurgery so it seems as good of time as any to give an update on here.

Since Ellie's last hospitalization, we got her back on her seizure medication and after about a week the eye blinking stopped and she didn't have any more episodes like the one that sent her to the hospital. The past couple of weeks she's been battling a lot of nasal congestion that's resulted in her not eating and having trouble tolerating her tube feeds.  During this time she started having these short episodes where her eyes rolled up into her head.  It's scary for me but she returns to normal immediately after and having been through these type of issues before, I could reassure myself that she's okay.  Her neurosurgeon said when a child is sick they are more likely to have break through seizures and that may be what she's experiencing.  Ellie has a followup with her neurologist scheduled for next week and since this is really her specialty, I will also let her know about it.  Ellie's been feeling better the past few days and we haven't noticed the eye rolling anymore.

But otherwise she's been doing really well lately.  Her neurosurgeon is happy to hear that Ellie continues to slowly progress in her physical and mental abilities  Things like her speech continue to progress.  While she still usually says "Mama" when she wants her daddy's attention, she now has the ability to say "Dada".  She regularly says "Baby" which she calls all dolls, stuffed animals, and of course her baby sister.  When you tell her to say "Ellie" she says "EEE".  The only person in our house that she doesn't have a word for is Payton.  If you ask her to say "Payton" she either remains silent or makes a random sound like "Ahh" or "Mama".  In addition to these names, she has a handful of other words that generally either start with a "B", "M", or "D".  In a recent speech therapy evaluation she scored at 1 year 9 months in her expressive language and 2 years 6 months in her auditory comprehension.  So she understands a lot more than what she can express.

Ellie has been having more and more episodes lately of getting really blue/purple colored lips and so I expressed that concern with her neurosurgeon this morning.  While we've been aware that Raynaud's Phenomenon is associated with Ellie' genetic mutation, I guess I just needed the reassurance of her neurosurgeon that that's the cause and not an indication of anything more serious.  Basically because of Ellie's genetic mutation, her body is lacking the chemical needed to relax her blood vessels throughout her body.  This constriction of her blood vessels is what caused the blood vessels in her brain to close themselves off (causing Moyamoya disease) and is the reason she lives with high blood pressure (which we can't treat at this time because it would put her at a risk of having a stroke).  Which also leads to Raynaud's Phenomenon which is the constriction of blood vessels in the hands, feet, and lips due to cold or stress and causes them to appear blue or purple in color.  The blue lips were something we've been noticing with Ellie since she was 1 year old, before we knew anything about her genetic disposition.  It can cause pain in a person's hands and feet but it's not usually considered a serious condition.

Ellie's neurosurgeon and I discussed the plan forward from here.  Basically her neurosurgeon doesn't see a reason to put her under anesthesia for an MRI/MRA until a year after her last one (so in November).  Last fall Ellie's cardiologist wanted to get some chest images to look at her aortic dilation/aneurysm the next time she was due for a cerebral MRI.  But since in November the MRI was done in an emergency situation, no chest images were taken.  So we are unsure of her cardiologist's timeline and if waiting until November for those chest images will be considered acceptable.  Ellie's neurosurgeon is going to make contact with her cardiologist to discuss the timeline of when she thinks it would be best to get those pictures done.  

Ellie has what's called aortic dilation which is also known as an aortic aneurysm.  It is a condition that is extremely rare in children and is usually found in older people caused by years of high blood pressure.  Aortic aneurysms in adults can cause a tear in the aorta which is usually fatal.  The good news is that in children they usually do not tear and are not usually fast progressing.  But with some types of conditions in children they can be more quickly progressing that others and since there's no information on the link between Ellie's genetic condition and aortic aneurysms, we can't be sure how hers will progress.  Her cardiologist said her best guess is that around the age of 30 she may need to have heart surgery to repair that area to ensure that a tear doesn't occur.  But it's something we need to monitor right now because we just don't know.  Better yet, let's all just pray that God will take this from her so that she never has to go through open heart surgery.

Thank you all for the continued support and love.  Go Ellie Go!