Tuesday, 31 May 2016

Genetic Testing Turns Into Flat Gingerale

Yesterday we saw our geneticist.  When we got the call for the appointment, the secretary had informed us that she was moving to the East Coast next month.  I assumed that our appointment was just a routine consult to follow-up with Gideon prior to him being transferred to a new geneticist.


Our genetic testing results came back.

I equate it to a long snare drum roll, thick velvet curtains being slowly pulled back to reveal a tall man dressed in a slick tux.  He then pulls out a whoopee cushion and sits on it.

The Whole Exome Sequence analysis came back practically normal.  There was no gene variants found to account for his phenotype (a fancy word for his unique genetic characteristics).  What they did find was a "Variant of Uncertain Significance" on his PTBP1 gene. Technically speaking: It is the gene that encodes the polypyrimidine tract-binding protein 1.  

What does this mean for us?  Pretty much nothing.  They have never found this variant before in humans and "To date, no pathogenic variants in the PTBP1 gene have been reported in association with a specific human disease to our knowledge".  One of the issues is that the function of this gene has not been "completely defined".  - What we know about it is that a) it plays a roll in pre-mRNA splicing  and b) that it can have an effect on neural stem cells.  -  That is all they know about it.

Because they know so little about it, they can nether confirm nor deny that it could be the cause of his differences.  So maybe we have an answer.... maybe we don't.

So what is our next step?  Wait.  We wait maybe 5 years to check the collected DNA pool for someone else with a variant on the same gene.  We wait and hope that more research is done on the PTBP1 gene to help us understand it's function and what a variant on this gene could mean and we submit his DNA to research studies.  That's it.  We have been discharged from our geneticist and have to wait to be re-referred once enough time has past to check the DNA pool or genetic testing technologies get more expansive.  *Insert whoopee cushion sound-*

Gideon is a pioneer.  What he has is very very rare.  I guess we are the ones laying the path for someone else- if this gene variant is the answer.

I was hoping for some answers.  I was hoping for some insight into what we could expect for Gideon's future.  I was hoping to find out there were other people with children like Gideon that I could talk to.  But now I am left with the unknown.  An unknown that only leads to uncertainty and more questions.  On the plus side, since we have no real diagnosis or prognosis Gideon is not limited yet by expectations that go along with those things.  So I still have hope.

With Gideon there will always be hope, faith and love - no matter the circumstance - and I can live on that foundation.  These things ground me and give a consistency, even when faced with exhaustion, dismay and unknowns.  I know I would be a complete mess and my family would be a complete mess without my reliance on Jesus.  We all need something to lean on, to propel us forward when all we want to do is make it all stop.  I'm curious to know how other's in similar situations get through the thick of it all?

How do you come to terms with the offsetting unknowns in your life? How do you find that inner peace?  What keeps you held together?  How do you keep from falling apart?             


Wednesday, 18 May 2016

This Dance is Difficult

It's wearing. Being admitted monthly with lung infections is growing old. His initial labs show that his recent dehydration is not making his kidney very happy.  (He only has one that works... so it always makes me nervous when the labs suggest it's under stress) The Iv fluids should help. His chest xray is showing wear and tear from all the repeated lung infections which could lead to a chronic lung condition. My prediction is a course of antibiotics, a week at home of recovery, two weeks of smooth sailing and then a bought of vomiting and/or cold symptoms to begin the cycle again.  
The pediatrician thinks he is aspirating and each admission is a new pneumonia being complicated by his asthma.   I don't think he is aspirating while he eats. I think it's when he vomits.   Will the dreaded g- tube help? I'm not entirely convinced.
I just wish it it would stop. The coughing, the infections, the fevers, the vomiting. I'm tired of being helpless when my little one is so sick.

It's just not woking

The puffers are no longer holding off the coughing and breathing issues.  Gideon is so uncomfortable that I'm going to have to bring him back to the ER.  He's still refusing his bottles.  I'm not sure we can fight this pneumonia at home.

Fussy, sad little ones who can't stop coughing make me sad ...

Tuesday, 17 May 2016

Gideon's Immune System vs Pneumonia - A Metaphorical Look at Cat vs Toaster Video's

After Gideon woke up from an afternoon nap yesterday he was fussy and refusing to eat, so I brought him into the ER last night for some hydration.  They got his IV in his arm on the first try! (He is notorious for bad IV starts)  I feel a little bad, when the nurse came to do it I thought she was just drawing some lab work and I told her it was easier to get bloodwork out of him than to put in an IV... whoops! I'm so glad I didn't throw her off her game with that comment.

They also did a chest xray- Pneumonia Again!!!  What???

Luckily the little guy was putting on a show last night.  Although he has a cough, he was smiling and laughing,  moving around the bed and playing-  there was zero signs of him needing extra care (His O2 levels were fine) so they gave his first dose of antibiotic through his IV and sent us home with a 7 day prescription.  I really think the new asthma medication has been helping to open his airway and prevented us an admission last night.  

My big question is- What's with all the pneumonia?
Are these truly reoccurring pneumonias or are the antibiotics just not working?  Seriously-  He was admitted in January, March and April with Pneumonia.  He also had a confirmed RSV (Respiratory Syncytial Virus) in March.  Is this virus lingering longer than it should be? Do I need to disinfect my house and keep him in a bubble?  Do I need more vigorous hand washing protocols?  Do I need to google research how to improve immune systems in a possibly immune compromised child  until I get tired and end up watching cat vs toaster videos?  All very pressing questions...

Monday, 16 May 2016

56 Days- not so bad.

I've been going over some of my paperwork for taxes and I thought I'd share some stats:

  • Gideon spent 56 days in the hospital or attending appointments in 2015- and that doesn't include trips to the local ER, Family Doctor or Audiologist.  That's over 15% of his year! (With the additional days it's probably just over 2 months!)
  • The hours spent driving back and forth from London add up to about 6 days worth of driving alone (144 hours approx.).
  • Gideon had 83 days of in house services for OT, PT, Speech, Dietitian, Infant Development and Low Vision.
  • Gideon was put under general anesthetic for day surgery 6 times.
  • He was admitted in hospital 4 times.
  • We spent close to $250.00 on Parking.

Looking back on this, I'm fortunate to think- It could be worse!  It's all about the perspective.  There are families out there who have spent entire years living in the hospital with their little ones.  There are families that are dealing with children so sick, they are counting the days.  Praise the Lord that life with my two little Chickadees is busy and tiring but not despaired.  When you enter the world of parenting special needs children, life and perspective grow so much larger.  I think appreciation and love grows too.

As a side note: Gideon has been fevered and throwing up again - since Friday.  The asthma medication has helped with his breathing but he is still coughing.  Please send your thoughts and prayers this way that his appetite returns so his feeds will increase and we don't need to bring him in for an IV to improve his hydration.