Zellweger's Syndrome

Hi everyone,

Michael and Esther asked me to help keep the blog up to date at this time.








They have their hands full with two at home, running a business and then on top of all that waiting.








So, we will do our best to pray Gods will. And ask how we can be of help. And when we don't know what to say, say nothing at all.



On October 21st Elianna was discharged from Intermediary Care at womans to go home and be a family until they received the formal diagnoses and until she goes to be with Jesus.

There was a baby dedication that evening and close friends and family gathered around to support and love this amazing family.



That night she was taken off oxygen and it was thought that she would likely leave this world within 24 hrs. But, the truth is no one knows... no one.

That day they also received the results they had been waiting for. Elianna does in fact have Zellweger's Spectrum.


http://babyweston.weebly.com/zellweger-syndrome.html



http://corinnesophia.blogspot.ca/2011/12/what-is-zellweger-syndrome.html?m=1



That night another journey began.








She did not pass within that time and has been with us.

There is NO way of knowing how long that will be and there is NO way we can know what that might look like.







It has been wonderful to spend time, cuddling and bonding. But, it has been truly heart wrenching. They don't know for how long and in this time she has had seizures and the last couple days breathing issues called desats (where her blood oxygen levels fall and she loses her color).



Please know if they have not been in-touch or responded it is not personal. I know they appreciate SO MUCH all that people have done for them.

This time now is for them. To love one another and to be together.

So, we too wait and support when asked.








I will keep you posted once a week. Unless something changes.



God bless,

A loving Friend



And please read the links I posted about Zellweger's.

The tube

I've been nervous all weekend about learning to insert Elianna's NG tube but today was the day I decided to just go for it.
It was successful and there was only a little cry of protest from her (and no tears from mom). Once I've done three successful insertions and all the consults are complete we are on our way home!




She had two little incidents today where her breathing went funny and her color changed. Doctors saw both and seemed unconcerned. Changing her position resolved it both times. But man is that hard on a mama's heart!


- Posted using BlogPress from my iPhone

Fresh Air

We had nurse do something special for us today. It was a warm fall day and she coerced the Dr into letting us put E in a stroller and for a short walk.





Loaded up and ready to head
out.




Enjoying the outdoors for the first time.


- Posted using BlogPress from my iPhone

Hearing

E had another ear test today. She failed again. Person doing the test explained that it may be nerve damage or just fluid in the ears or small ears. There will be follow up testing when she's 1-2 months old.




- Posted using BlogPress from my iPhone

Rituals

Our daily life has settled into a new kind of normal. I've been thinking a lot lately about how surreal everything feels and how calm Michael and I have felt. I am convinced that it's because of all the many people holding us up in prayer. This is a time in life where God has most certainly been carrying us.



I have also begun to find solace and joy in the daily rituals of our new normal (except for maybe all the hand washing as it just dries my hands out).

Arriving at the hospital in time for a feed means changing Elianna's diaper, taking her temperature and then settling in for a cuddle while she eats. In the morning I swap out her bonding buddies and grab any dirty laundry that needs to come home. The repetitiveness of pumping and then washing the pump parts is soothing. (I know it sounds crazy). In the evening a weigh is added to the diaper change routine. Elianna has been enjoying her coconut oil rub down as I try to alleviate her dry skin.




Everyone is asking when we can bring E home. The doctors have started that conversation and it looks to be soon, early next week they think.
Last night at her weigh in she was up again. The doctors agreed to increase her feeds yesterday morning to see if that would help and it did.

Sisters.



Elianna enjoying some cuddles from Opa and Grandma.





- Posted using BlogPress from my iPhone

Thanksgiving

Yesterday was a good day. We went to church as a family. Then we visited E. Michael's family brought the thanksgiving dinner to our house and we hung out and ate turkey. The kids played well together.
Elianna is doing well. Her weight gain is slow but I don't think a cause for too much concern yet. She still just getting my milk and thankfully my supply is fantastic. The doctor agreed to increase her feeds in hopes it will help with weight gain.



- Posted using BlogPress from my iPhone

Tests

Hello

Just a quick update. This morning when Michael spoke with the doctors they said they had been putting pressure on the lab to get the results. They are hoping to get them on Tuesday.
He also had a bit of a discussion with them today about her feeding. It seems we will have to work hard to advocate for them using just my milk and not supplementing.

Please pray that results do come in and for wisdom as we discuss the feeding stuff with the doctors.

Thanks!


- Posted using BlogPress from my iPhone

Little bits

I ran out of steam last night. There is some peripheral things we do know about Elianna's health. She has cysts on her kidneys (consistent with Zellwegers), currently they are not effecting function and she seems to be producing adequate urine. The doctors also checked her eyes and found she has cataracts (again, consistent with Zellwegers) and they want to do further testing to determine function of her eye nerves. They also plan to test her hearing at some point. To us she seems to hear and is quite responsive to various sounds.
She is also gaining weight appropriately which is encouraging.




It's been a bit of a discouraging day on the home front, we discovered some kind of plumbing leak in our downstairs kitchen, there's a lot of water there.

waiting

I know you have all been waiting for more information.  I really wish I had more.  Elianna is doing well, stable and gaining weight.  She is being tube fed, though we have met with Occupational Therapy and there is some hope that she will learn to breastfeed.  In the mean time I am pumping to provide her with breastmilk.  I am so grateful that my body seems to have a certain expertise when it comes to milk production (averaging about a litre a day, E is eating about 600mL).  Elianna was transferred from the NICU to Intermediate Care on Friday evening.  

Here she is getting her hair washed.  Check out those long fingers (courtesy of the Friesen family).

We are still waiting for test results.  They actually had to redraw the blood on Monday because the initial sample they sent was not enough volume.  Elianna has proven to be very difficult to draw blood from.  After trying every available spot, they shaved the sides of her head to access veins at her temples.  The results typically take 4 weeks, though they are trying to rush them (unfortunately if the test takes long because of the chemical processes involved, there's nothing much anyone can do).  

For now, we are simply waiting.  Once we have a confirmed diagnosis there will be lots of meetings and discussions to work out a plan for her care.  

Thank you to all of you for your support.  We have been surrounded and cared for in so many ways.  We are well fed, and our time has been freed up to spend with Elianna as people have stepped up to help with the most mundane of household tasks.  

She's here!

Hello friends and
family. This has been one crazy week for us and we are overwhelmed in so many
ways. 

Here's the details and
stats. Elianna Shirley Arica Schultz came flying into this world at 12:42am on
October 1, 2014. She was 7lbs 15oz and 22" long. She has dark hair. 

She arrived a little
stunned and had trouble breathing and was rushed to resuscitation where they
discovered she had quite a lot of fluid on her lungs. 

Once they had her
somewhat stable she was taken to the NICU (neonatal intensive care unit).
Within 24 hrs her lungs had cleared and she's been breathing room air. In the meantime
a host of other things have been examined and tests ordered to try and discover
what else is going on.  She has been
described as having poor tone (she’s unusually floppy) and some other physical
characteristics that are cause for concern. 

I started this post
before we found out the following information. 
Elianna went for an MRI this morning. 
This evening we went back to NICU for her 6:00 feed, and it just so
happened that the neurologist was in and offered to share the results from the scan
with us.  We now have the beginning of a
diagnosis, there is still more testing to do to refine the diagnosis but we
know now that Elianna’s brain is quite abnormal. 
The disease at the top of the list of possibilities is called Zellweger’s
Syndrome.  Essentially it means that when
her brain was developing in the womb, there was a problem with the metabolic process
of cell generation.  The cells need food,
either in the form of sugar or fatty acids. 
In Elianna’s case, it appears to be a fatty acid problem, which means
that it is less treatable and has a poorer prognosis.  No one could have predicted that this would
happen, it basically happened because of random gene mutation. 

The doctors are doing
more tests to finalize the diagnosis, and they can’t tell exactly what it means
in terms of what Elianna’s life will look like but we do know it’s very
unlikely that she will live to see adulthood.

Here's a link with some info. http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm

The next months will
involve a lot of watching and waiting as we discover what Elianna is capable
of.  Our current and immediate challenge
is feeding, which is happening through a tube right now. 

We would appreciate
your prayers for us as a family as we figure out a new normal together and for
Elianna and her doctors specifically as they work to care for her as best as
they can. 

Please check back here
for updates, which we will post as we are able. 
We would appreciate not being asked a bunch of questions at this time,
we have more questions than answers ourselves. 
What we have shared today is what we know right now, as more information
is uncovered what we know will change but that will take months and even
longer. 

If you want to help us
and find ways to support us, you can also check back here.  I will also post some of our needs as we sort
what it is that we would find helpful as we walk through this challenging time.