Friday, November 02, 2018

Episode 8 – On location: Global Genes RARE Patient Advocacy Summit

I recorded an episode of Cambridge Biomarketing's Rare in Common podcast at the 7th annual Global Genes RARE Patient Advocacy Summit in Irvine, CA last month. The podcast also features Angie Rowe and rare patient, Christine Von Raesfeld. Listen in to my patient advocate story here (starting around 15:30):

Sunday, December 31, 2017

Sign of the Times

Preface: One of my coping mechanisms is to stay busy, leaving no time to dwell on lives could’ve, would’ve, should’ve nuances. With that said, I recently realized that I had never followed through with a 2017 year-end blog post. I am too busy for regular blogging, but I still need to jot down the big stuff, this space serves as my mental filing cabinet. This post wasn’t shared until fall of 2018, it is back dated so I can accurately access my files. Ava is scheduled soon for a scoliosis surgery, I need to have access to the content of this blog when we return to the PICU, post-surgery. The following post has been sitting here in limbo, waiting for me to hit the publish button.

I left you with a story of DRESS Syndrome, same time last year. My angst regarding weekly hepatic labs and trying to kick prednisone was on the forefront of my mind, oh what change a year can bring. By the end of January, we had successfully weaned the steroid and were off the hook for weekly trips to the lab. Good thing as election year left me with a hefty advocacy agenda staring me in the face; healthcare, science, education, human rights... I Marched with over 100,000 women in Denver. Pink pussy hats galore, ladies I adore, it was glorious! Unfortunate it is necessary in this century, 🎵we gotta get away from here🎵.

The rest of the winter was status quo, an EMU stay, and sedated dental cleaning was the only thing on Ava’s medical calendar. I hooked up with some fierce local rare disease advocates, in February, we have since formed a non-profit to advocate for Colorado Rare policy initiatives. I took Ava to visit her epileptologist in mid-April, her seizures were angry, we tweaked her meds for the first time since the whole DRESS Syndrome debacle. Nine days later I spent the afternoon on the phone with the on-call provider with her PCP group, we settled on a visit to north campus (nearest to home) for labs and assessment, and so it goes...

Preserving our important 2017 news via Instagram & Facebook posts


Jan 19, 2017 8:27am
It's possible that next week will be our last week of steroids! Whoop, hopefully the end of DRESS. I'm not sure I'll be up for adding new epilepsy meds anytime soon but thrilled to not have to get to lab weekly.

On the evening of April 23, Ava visited the North Campus of Children's Colorado. She had changed a medicine dose and just wasn't herself. I took her for labs, we were going to follow up with her PCP, the next morning. She crashed oxygen wise about 20-minutes after triage and was transported to the 8th floor on Anschutz Campus, via ambulance. I was already scheduled to be on campus, early the next morning, I didn't anticipate the ride we were embarking upon.

April 24th: Shout out to all of you incredible lab rats out there! In honor of Medical Laboratory Week, I had the opportunity to share Ava's diagnostic journey with the Molecular Diagnostics Team, in the Department of Pathology and Laboratory Medicine, here at Children’s Hospital Colorado. I was invited to share the patient perspective and Ava made sure I didn't miss out, securing us a room on floor 8, early this morning. Treating pneumonia and monitoring for potential DRESS flare. Hoping to be home Wednesday. I met the gentleman that's coordinated her mountain of genetic and molecular testing, since 2005. #someyouwin #someyoulose

***Updates made via comments to above post

-We are ending the night on half liter oxygen, fever seems in check, labs scheduled in a.m. for a little confidence... might be able to go home tomorrow evening, on oral antibiotics, if she responds well to tonight antibiotics. Thank you for all the kind words, this stay sure caught us by surprise.
- (morning of April 25th) It's been a long night, if things don't look up she's headed to PICU, today. She was suctioned for the first time in her life this morning and respiratory team joined us around 5:30 a.m., she moved from half to 6 liters O2. She is top priority for team purple, I hope she turns this around.
- (afternoon April 25th) We are settling into the PICU, she was transferred down around 2. They have her on a-pap, she's febrile, they are trying to figure out what is going on. She has been having episodes of rapid desatting, they are looking for clots, adjusting antibiotic plan, and running cultures. I'll try to update in a new status if/when we learn anything.

Apr 26, 2017 9:29am
Day3: Ava is still hanging in the PICU. I just talked with her team about today's plan. We are getting her up in a chair this morning to see if she can move the plugs they suspect are keeping her left lower lung so infected. MRSA is also a concern, her initial swab was negative, they took cultures yesterday, prior to adding the big gun antibiotic vancomycin, 48-72 hours to grow. They will decide by end of day if they need to intubate, she's not improving much lung wise, there is concern about hypoxia affecting heart. They do expect her to recover, even if the tube is needed. No longer concern about metabolic acidosis or clot in lung. She's tired, over poked, ready for a break. She's still fighting, she clocked the night nurse that tried to comb her hair. Hopefully she decides she doesn't want a long nap with a throat tube. I'll update with any changes.

***Updates made via comments to above post

-Thank you, we appreciate all of you very much! Around 5:00 this afternoon we tried to start reducing Ava's O2 from 65 to 50, to avoid the tube. Poor Bean couldn't hold her own at 55 so they intubated around 5:45. She is full of thick secretions, anyone in her shoes would not have been able to clear this thick of infected junk. She was tired and struggling hard to breath, she is now comfortable and resting. Hopefully this speeds her recovery up. I'll post again after morning rounds. Thanks again for all your kind words.

Apr 27, 2017 9:20am
Day 4 Ava update: There is no plan for extubation, today, she was intubated yesterday, late afternoon. She is coughing and helping them clear her thick secretions. They are leaning towards community acquired bacterial pneumonia, but nothing is showing up quite yet in cultures. We are managing sedation, comfort, and treatment side effects for today's care plan. Later I'm going to visit with Aliza and get some laundry done and work caught up, try to reset my hospital fog. Grandma is going to come see the Bean. We have a lot of friends in-patient, crazy late respiratory season.

Apr 28, 2017 5:27pm
Day 5 update: yesterday cultures identified mycoplasma pneumoniae, AKA walking pneumonia, as the culprit bacteria. Treatment was adjusted appropriately (she got to lose an antibiotic or two) and today she is working on breathing trials with less vent support, keeping fever in check, and less sedation. It’s possible they extubate tomorrow. She woke up to check out her cards from classmates this afternoon, it really brightened her day!

Apr 29, 2017 10:33pm
Day 6: She didn't make her target numbers during vent trials. Pair that with no real improvement, extubation deal breaker. They brought in ultrasound to rule out pleural effusion and explore any blockage from mucus plug in her lower left lung. On a good note, tonight her Precedex is minimal, lots of secretions suctioned out this afternoon, she's currently rocking a vent trial (she failed miserably earlier) and moving herself around bed again. I think the Ciprofloxacin and Lasix are catching up. We plan to stop feeds again in the morning, to extubate. We are in an overflow unit that is scheduled to close Monday, she better get busy working up to floor 8 or 9! We are grateful for all of your kind words and good vibes, they make an endless week tolerable.

Apr 30, 2017 8:29pm

Day 7: One step closer to home! I ditched the tube this afternoon, sat in chair a couple of hours while my mom left for birthday martini, stood a couple of times, and moved from overflow to the noisy side of PICU unit. My awesome nurse let sister sneak in, I cried when she left. I miss home and school.

May 1, 2017 10:31pm
Day 8: Ava is still in the PICU, fingers crossed we move to general floor tomorrow. She had a rough couple of hours last night, they didn't do a lot of RT after extubation and had her working a little too hard. Her x-ray is remarkably better, today. She's been up in chair over four hours collectively, weight bearing during transfers, completed antibiotic course, had success with a nasal only mask, and she had a few special visitor's. It was a beautiful day, I had a nice walk this evening sans jacket. #missingourbed #inchingcloser — at Children’s Hospital Colorado.

May 2, 2017 8:13pm
Day 9: One step forward, one step back. Ava sounds good, has been on nasal mask most of the day and gets to sleep in it until her numbers go south. They've dropped her oxygen to 40%, no desats the past 24-hours, will start trials off mask, tomorrow. If that goes well they'll send us up to 8 or 9. Unfortunately she's starting back on vancomycin for a c-diff dx she picked up, today. She's going to miss Special Olympics Thursday, maybe the silver lining will be discharge day instead. Fingers crossed we're home by weekend, at the latest. This was a rough day for me, I think I hit my low for this stay. This evening I'm feeling much more positive. #beerwouldbenice

May 3, 2017 10:28pm
Day 10: steady and slow shall be the PICU pace. Ava's thrown the blue team enough curve balls, they're not rushing o2 wean. Plan for tomorrow is to start trials on room air, hopefully to the floor, then home soon after. PT visited today, she was cleared to walk with assistance in her room. 👐 Her tummy is angry with c-diff, she's rather uncomfortable in that department (including skin on bum). Grandma snuck Aliza out of school early and brought her for a visit. Overall a good, productive day. #stillmissingourbed

May 4, 2017 9:58pm
Day 11: child-life showed up with Ava's favorite sensory cart. She successfully moved from AVAPS to BIPAP and got the green light for bedside commode. Her PIP (peak inspiratory pressure) continues to improve, this is the steady and slow piece of discharge goals. She is at risk for lung collapse if they move her off support too fast. She pulled her last IV out, fingers crossed she doesn't pull her TP line out. PICU nurse manager dropped by to chat, good sign it's been a long stay. Today we finally heard her voice again! #thankgod4FaceTime— at Children’s Hospital Colorado.

May 5, 2017 5:40pm
Day 12: high-flow cannula trials are going well, if this continues she will be able to start drinking by mouth again. Don't let those bright eyes fool you, we were up until 5:00 a.m., she was uncomfortable, getting sick of BIPAP and sore bum. I am posting early because I'm headed north tonight, very excited to see my little and bed! Grandma is taking over, it'd be a bonus to come back to no PICU. She's receiving excellent care, it's 80° today, Ava misses the sun. #gettingcloser — at Children’s Hospital Colorado.

May 6, 2017 11:16pm
Day 13: I enjoyed my people and own bed last night. Ava partied until 4 a.m. for grandma. She is still in the PICU, she's had a very spicy attitude and is over this, too. At this moment she is winning the no sleep battle, again. Aliza and I caught a double rainbow when we arrived this afternoon, she told me it must mean good luck. #fingerscrossed #serenitynow — atChildren’s Hospital Colorado.

May 7, 2017 8:34pm
Day 14: Out of the fishbowl and up near the helipad... we blew the PICU for 8 south around 5:00 this afternoon! She got the green light to start eating and drinking by mouth early this afternoon. I think we'll be home tomorrow if her tummy holds up. Tonight, she is looking forward to a long soak in the tub and ditching that TP line. #privatebathroomluxury

May 8, 2017 10:57pm
Day 15: condensed version of rounds...
Purple team: we're going to try to get you home this week
Me: 🤤 this week?
Purple: yes, a few more days of vest treatments and O2 at night should do it.
Me: l was thinking home today or tomorrow; can I get you insurance case manager info to set up home treatments?
Purple (Fellow): do you think you can do this every eight hours?
Me: at least I get paid to do this at home.
Fellow: 🤔
Me: they trust me to administer midazolam and such, do you suppose strapping a cannula and vest on is out of reach? #gettingcranky #nophotoneeded 

May 9, 2017 11:25pm
Day 16: I'm feeling defeat. All the effort I put into clearly communicating my concerns and barriers to discharge, during Monday morning rounds, fell on deaf ears. No one contacted pulmonary consult or the non-existent case manager that coordinates RT orders, as discussed. The consequence, discharge is up in the air, it could be as late as Friday. Ava is bound to this pricy, private suite, for vest treatments 3x/daily. She's still on droplet precautions from pneumonia so she can't leave the room. We are homesick and hoping vest luck finds us. On a positive note, she had a surprise visit from one of her classmates, this afternoon, made her smile lots. #stillneedthatbeer — at Children’s Hospital Colorado.

May 10, 2017 10:18pm
Day 17: the trending #FreeAva movement gained ground today ;) I received advice to engage a patient advocate, from a fellow supermom and Ava should be discharged in the morning! Her vest will be delivered to house late afternoon, I have initial oxygen tank in hand, scripts and follow-ups in place, and an attending that is going to visit prior to rounds so we can head out early! Ava's floor nurse, Julie, is here tonight so I anticipate a smooth evening and discharge. Fingers crossed we bust out!

May 11, 2017 10:17pm
Day 18: HOME! The resident I've been at opining odds with since pre-PICU, visited early this morning, hoping I'd share my frustrations with her peers, to help her become a better physician and UC better teachers. I share this tidbit because I expect nothing less from this institution, I respect the art of the practice. I also:
*carried two jam-packed sacks of meds out of Walgreens
*grabbed home nebulizer
*reinstated home health with my charge nurse
*became oxygen concentrator savvy
*picked up a new ADL with vest delivery
*pretended to be a respiratory therapist with albuterol and hypertonic treatments
*had great company and beer

Catching an episode of Fargo, home sweet home!


And so the rest of the story goes... I anticipated that the worst of 2017 was in my rearview mirror, this stay was our longest and most intense in all of Ava's years. May 26, 2017, my papa passed unexpectedly, from cardiopulmonary arrest. There is no remedy to feeling like you are never going to be able to go home, again. It is certainly safe to say this wasn't my year.

"We are past the end of things now, but I don't want to leave."
Your soul is like your shadow. Sometimes it just wanders off like a butterfly and that is when you are sad and that's when you get sick, and if it comes back to you, that is when you are happy and you are well again. -Nao Kao

Saturday, December 31, 2016

A Little Unsteady

Ah, where to start? 2016 has thrown a lot our way, not a lot of good to speak of. I use this space to document Ava's story so I'll stick to her world tonight.

Ava is growing up, change has been brewing in both her health and the level or type of care she requires to go about her daily life. She is officially a two person transfer, nearly 80 lbs. and beastly strong, it's getting harder to find appropriate and qualified help within her current support structure. Her seizures have also been evolving and increasing, it's possible to find yourself in a situation where you have to transfer her body so she can safely seize. This isn't an easy task, physically not possible for some, epilepsy management has again moved to the top priority of 'quality of life' in her palliative care puzzle. 

The last Friday in August we spent some time with her Epileptologist and decided we would add an additional anti-epileptic drug, Banzel/Rufinamide, as an adjunct therapy with the hope of decreasing a specific seizure type. If it was successful, we would reduce and/or eliminate one of the other two drugs we are currently using to treat seizures. She started this drug the Friday before Labor Day and it seemed to be her standard cocktail tweak, there was really no reason to anticipate anything different.

Labor Day found us at the nearest Children's Hospital emergency department, leaving with a 'community acquired pneumonia' diagnosis for Ava. It came as a bit of a surprise, she hadn't been presenting with any major illness, aspiration has never been a problem, she's never had pneumonia and had only used an oral antibiotic once in her life. Her stats were good, oxygen wasn't a concern, we were able to go home on a hefty dose of Augmentin, TID, for 10-days.

The next Saturday I noticed a pimple looking spot, on the back of her thigh just under her butt. I didn't think much of it, I spent the next 48-hours traveling 400 miles north, to pay respects to my step-grandfather. I left on a Sunday and received a call from Ava's teacher early Monday morning, she was vomiting and needed to go home. Her dad picked her up, no more vomit and success keeping her next two meals down, we chalked it up to the antibiotic. 

I arrived home that night around bed time and noticed a few spots on her chest. By morning the rash was certain and gaining ground, joined by a low grade fever. We had a successful breakfast and refusal to eat lunch, I knew something was going very wrong, we (PCP included) settled on a visit to north campus to assess. Seven hours later we were sent home, with a diagnosis of penicillin rash and yeast infection in groin. 

I shit you not.

And I did advocate, we wouldn't have been there seven flipping hours if I'd bought their dx. I specifically asked for them to look at liver enzymes as my concern was Stevens-Johnson Syndrome as well as long-term depakote use, they ran a BASIC metabolic panel, it takes a comprehensive panel to peek at hepatic function. So much for checking on that liver. One of the NPs spent a fair time presenting pictures of penicillin rashes, the attending had to present why he didn't think this was a reaction to the medication before I'd leave. In those seven hours, the rash wasn't looking any less vicious, justavirus wasn't settling well with me, I needed to get her home for p.m. meds.

The icing on the cake? 

The discharge instructions were to continue "Lamictal" and cease Augmentin. To date she's never been prescribed Lamictal, it was Banzel and it was prescribed from the same institution. No flipping excuse, I can only surmise this a reality of SJS often being described as "lamictal rash" in the epilepsy community (to be fair I'll admit a rare child doesn't make for simple medical practice).

Can you imagine that they didn't listen to me and my concerns or value my input and experience? *Snicker* If I've learned anything in my medical parenting tenure, big egos are par for many newbies at teaching institutions. The communication breakdown was blatant in the 15 pages of discharge instructions; four providers couldn't humor me. Before noon the next day we were back at main campus ED and Ava was very sick. 

Febrile and flirting with acute liver failure, AST level of 1724 (normal range 10-40) and ALT level of 590 (normal range 10-30) landed us in a triage room for nearly nine hours. In that time the last resort "resource team" was able to place an IV while the attending sorted out a dx of DRESS Syndrome vs. Stevens-Johnson with PCP, dermatology, neurology, and ophthalmology. By 11:00 p.m we were settling into our 8th floor room that we'd call home for the next week. Infectious disease popped in to rule out any obscure bug that might have been overlooked. By morning they were certain it was DRESS Syndrome, rare enough for a case study. 

It's NYE and we're still going to north campus for weekly hepatic labs and trying to kick prednisone. She started on 40mg, holding steady at 5mg and hoping for baseline once her liver can kick this. They don't know much about treating DRESS, especially in the pediatric population. 2016 hasn't lacked crazy.


White tip on nose is normal skin tone
Hoping for a renewed spirit in 2017, cheers to all of you!