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Showing posts from February, 2017

Catching Up

I should have posted right after our appointments last week but, I hit a wall.  I am completely burnt out and overwhelmed after our visits.

I returned the email to the 7 doctors who were so kind to email me.  To my surprise, not only did I get immediate responses that I reported on last week, but Wednesday, on our drive down, my email was blowing up with doctors wanting more details.  Two from NIH wanted to talk to me.  I finally had to pull over in Ogden and let Spencer drive so I could answer emails and phone calls from these very concerned doctors I have never met.

I had an hour long visit with Dr. Giri out of the NIH Genetics division.  She agreed with the other docs that we are likely dealing with 2 separate genetic diseases.  The more she explained things, the more I understand and agree.  One thing everyone agrees on is the seriousness of Shelbie's situation. I have been told by several of these doctors that we have an extremely complicated and rare genetic situation goi…

You have to wonder...

This weekend, I couldn't help but think what I did wrong to end up with such sick kids. I look at their cousins who are completely healthy and normal and it hardly makes sense to me that we are in this place.  I must have been a terrible incubator and egg donor.  Gah!

I finally mustered up some courage and will to email back the 7 world renowned scientists and doctors in the Dyskeratosis Congenita world.  I was shocked to hear back from two of them first thing this morning- Dr. Bertuch and Dr. Gadir.

I sent them a long winded email about Shelbie's history and the things we are facing with Sam and his brain abnormalities. They both offered some interesting thoughts.  Dr. Gadir spoke of a very new genetic disease that affects the immune system, bone marrow and telomeres.  In the literature, two patients have been described with this disease who have chronic strokes, vasculitis, systemic inflammation and lymphadenopathy.  Sounds so familiar!  Ugh... There is a genetic test we c…

Life Is Better

Lately, I've been seeing all these signs around that say

"Life is better..."  At the Farm
                            At the beach
                            In Flip Flops
                            At the lake
                            By the pool

Apparently, life is better when you are surrounded by water.  Sadly, I live in a desert.  That explains a lot!  Anyhow, I got to thinking, I really need to make some signs that are more realistic and applicable to me and maybe anyone else who deals with the day to day grind of what life really is!  Hard.

So, here's what I have so far...I think I'm actually going to cross stitch these on some dishtowels and pillows and start a new business.


Been here...done that this week!  Life is so much better when you aren't puking. Am I right or am I right?  I thought I was going to die so I'm pleased to find myself still here at the end of the week!  Spencer had to help me clean one night and I came running in the doo…

I Might Be Sick

Gah...more tests are back and it's not looking good.  I'm a little sick to my stomach actually.  I'm not sure if it's because I am officially conditioned to have a sudden drop in blood pressure when I open my email and read, "New results posted in MyChart" or if the news I read is the cause for my discomfort.

I haven't heard from our doctor yet to put all this together but here are the facts so far...

No signs of MS- Hallelujah!

But...

She has what is called a Partially Empty Sella which is a flattened pituitary gland.  This is not good.  It happens due to chronic, increased intracranial pressure or atrophy.  It can be a primary problem or secondary.  They also noted a suspicious area, 'likely an arachnoid cyst but the mass could not be seen properly.'

She also has a prominent arachnoid granulation on the left side, which can be mistaken for a deep vein thrombosis! (Maybe the cause of the slowing on the left side of her brain). It can also be mi…

Some Results

I was surprised to get a brief update from our doctor this morning.

They did not catch any seizure activity last week.  She said that while that may be good news, it didn't rule out deep structure seizures.   I asked if the test gave any insight to the cause of the slowing of activity in her brain and these were her words.

" No, this does not give an answer ... But it is just one test, done one time ..."

We are still waiting on the MRI results.  I'm not losing hope.  I know, I play this game ALL THE TIME...I wish for problems that no one in their right mind would wish for.  I only do that because it's usually the option with a fix.  Of all the things they are considering to be an issue for Shelbie, seizures are the simplest explanation and medication would manage it.

I'm certain we aren't going to find a solution to her problems any time soon.  While I sat in the waiting room during her 2 hour MRI last Thursday, there was a couple in the room as well.  A…

Always Something

Nothing much to report on Shelbie's situation.  Still no results back.  Still haven't had a chance to email our 'Dream Team' back and still putting life back together after a very rough week.

I have been sick-ish off and on since Monday.  I think probably a combination of too much anti-inflammatory meds and no food and no sleep is to blame.  Just basically run down.

I've been giving a lot of thought and prayer to my situation.  Monday afternoon, our old nurse stopped by to say hi. She had some really good ideas that I will look into depending on what they discover about Shelbie's brain.

Tuesday afternoon, I had a job interview.  In fact, I was offered the job.  It's just a drafting job.  No design, just drafting all the boring things for commercial and residential projects like door schedules. He offered me more than half of what I make on my own so that is not cool.  He said, "Having you on board means we both get rich."  Ahhh...maybe only one o…

The Dream Team

I will always be amazed at how life happens around here.  It's hard, but at the same time, it's amazing.

In the thick of things this past week, I shot off a message to the DC Facebook support group I belong to for some advice on what could possibly be going on with Shelbie.  It's a place to connect with other parents taking care of rare children too. We compare symptoms and experiences. Sometimes, its all we have.

The President of the DC group saw my message and asked if she could reach out to some specialists for me regarding Shelbie's latest brain issues.  Here's where it gets strange...The President of the DC group has a son with DC who had a bone marrow transplant last year.  She lives not far from where my parents use to live.  Not only that, her cousin is in my ward and I use to babysit his wife.  Small World!

Anyways, she sent out an email to 7 of the top DC scientists, researchers and doctors in the world, with a little of Shelbie's history.  To my sur…

Recovering

I have my doubts if I will ever recover from this week.  I sure hope so but it isn't looking good right now.  I can't say for sure what made this week any harder than the hard things we have been through in the past.  In fact, it really pales in comparison to other events we have faced like Sam's Intussusception surgery he had when he was in 5th grade that took him down for more than 3 months, or Spencer's Encephalitis that left him unresponsive for a couple of weeks and then very sick for two months.  This week was nothing compared to the twice weekly trips we made to Boise when Shelbie's platelets would drop to 1.  The list goes on of things we have endured and bounced right back from.

For some reason, this feels as hard or harder, yet I'm not sure that it is, in reality.  Perhaps its because I was already exhausted going into the week.  Maybe it's because we have not had a single break in the action since January of 2016.  It could be that it is becomin…

Seek First to Understand

Things went downhill so fast and so hard.  After the two events yesterday, I thought that might be the extent of our excitement for this trip.

Just after 1 am on Wednesday, Shelbie felt horrible and I found her laying on the bathroom floor.   It wasn't much longer that she started violently throwing up.  I was so worried.  I've never seen anything like it before.  It went on and on.

That started a domino effect. It took until 7 am before any of the anti nausea meds or pain meds started working. It was such a long night...in a hotel room with very few resources and the poor thing is still connected to 30 wires and isn't allowed to shower or bathe until Thursday night so being this sick with all this other stuff going on really sucks for her!

She slept until about noon.

By 1 pm, she was crashing again and I thought we just needed to get to the hospital.  She could hardly walk and pain radiated from the top of her head to her toes, straight down her spinal chord. We sat in …

Day 2

Today has been a better day.  Shelbie was able to sleep well last night and that made all the difference in how we managed the day.

It's interesting to see people stare at her.  It's not really a big deal.  A couple of people stop and ask what is wrong with her.  One guy stopped to ask her what was going on with her head.  He wondered if she had had brain surgery.  He then went on to talk about every member of his family who had some sort of brain problem.  With each little story, I said, "Oh wow!  I'm so sorry."  and with each little story, he replied, "Oh it's okay, they are dead now."  Seriously...he had nothing but dead people in his family from brain problems! She's a brave girl.   It reminded me of when she went back to school after being gone for two years for chemo.  She went back with half a head of hair.  I spent a fortune on a wig for her, wraps, hats and she just went without.

We had a really good talk today about her situation. We …

A little glitch

Last week, out of the blue, our Neuroimmunologist emailed me to see how Shelbie was doing with the flu and mycoplasma, which caught me off guard because, what doctor calls to check on a patient with the flu?   I told her she was on the mend and then she asked about seizure activity.  Shelbie has had a couple of episodes in the past week of being confused and problems with her speech again and a couple of times she fell while standing in the kitchen.  It has become so common anymore that I don't consider it a 'problem' but just the way it is anymore. When I think of seizures, I think of eye rolling, unconsciousness...not confusion, memory issues, word finding issues, etc.

A short while later, the doctor emailed me back and said she wanted to consulted her epilepsy colleagues because she felt they needed to follow up with these issues sooner than later. Friday, we were contacted that they were ready to have her checked in for a week long EEG of her brain.

It took some seriou…

There goes my mind...

Truly a strange day.  I'm surprised I survived.

Spencer's been trying to sell a car so he can buy his van.  So, in less than 12 hours, it sold.  I was full of all sorts of anxiety over the whole deal.  And there isn't enough space in the internet to get into the details of that but...whatever.  So, he was suppose to meet the buyer at the DMV later in the afternoon.  Since the car is in my name, I had to be there.

So, by late afternoon, the people  to buy the car arrive and we meet them.  He said, "Do you mind if I take it for a test drive?"

"Sure!" Spencer says.  All sorts of crazy came unleashed in my mind!  Don't laugh...this is my every day!  Okay laugh...let's face it!  I've lost my ever loving mind!

"Should Spencer ride with them?  Should I ride with them?  What if he is here to kidnap us and steal the car?  Do I really want to live through that?  We should just let them have the car! Maybe I'll just send Spencer...I have too m…