How We Got Here With (For W. and Everyone)

March 22, 2011

Hi folks!

Happy Tuesday to everyone. Sorry I wasn't here much over the weekend - took the

kiddos to Grandma's for a visit.

Last week W had asked some questions and I figured I'd share how we got

to our diagnosis and treatment for for her and anyone else who is

interested. Sorry for the length of the post, but I had kind of forgotten how

much happened between October and now.

, it's not a bother at all to ask about how we got here! I'm quickly

finding out how valuable it is to hear what others have gone through on their

journeys with JRA thus far.

To answer your specific question - to a certain degree had presented not

overly sick and it wasn't until the labs were run that the doctors really

started to worry.

Here's how we ended up where we are. Mid October, gets an ear infection.

What's interesting is that with that ear infection (actually a day before was

diagnosed with the EI) he broke out in an urticarial type rash. He did the same

thing in August when he had another EI. 5 days of abx and he was clear. He was

fever and rash free from around Oct. 23 until Oct. 31. On Halloween he started

running a high fever (103ish) and the rash was back big time - it was the day of

his 1st birthday party and he just was not quite himself. So on Nov. 1 I take

him back to the ped. EI is back (or it was a new one) so another round of abx.

He was fine again, fever and rash free, until Nov. 10 when he got sent home

early from daycare with another fever of 103. From Nov. 10, he ran a fever

daily along with a rash (the rash would get worse as the fever peaked). For the

most part, unless he was medicated, he had a fever. Our peds did numerous

exams, he had a chest x-ray to rule out pneumonia, and some basic bloodwork.

The day before Thanksgiving, I call the on-call ped at our practice (not our

usual one but he was also familiar with our case) to ask him, since we were

getting in to the holiday weekend, when should we pull the trigger and go to the

ER. He sent us that evening. Now, up until then, was a bit off, sleeping

more and eating a little less, but when you're running a fever between

102.5-105.2 for days on end, we weren't surprised at all. The day we were sent

to the ER, his fever was high again and the urticarial rash was so bad that he

looked sunburned (all of the patches had merged together). When the ER doc saw

him, she looked at his labs and felt that we needed to be transferred to another

hospital where they had staff hematologists, oncologists, and rheums. She

personally thought that based on his labs and presentation that it was rheum in

nature but she was not a rheum by training and wanted more experts to see him.

She tried to get us sent to JHU (we're in MD) but couldn't get a hold of their

rheum. So we went to Sinai in Baltimore and were admitted under the care of the

pediatric hematology/oncology clinic. looked unwell but it wasn't until

they did the first blood draw at Sinai that the doctors got worried. I can look

at his initial labs but they were really bad, apparently. The standard course

of investigation that the ped hem/oncs do for his type of fever presentation and

bloodwork is a CT scan, bone marrow biopsy and spinal tap. Because of it being

the day before Thanksgiving, his doctors didn't want to do a bone marrow biopsy

and spinal tap until they had all of the right people to do the screening

(doctors there and at JHU look at the samples). So Thursday night was a CT scan

(standard protocol for unexplained fevers). Friday morning our primary

pediatrician heard we were hospitalized and he started " rallying the troops "

around us so to speak. He did his residency at Sinai and still had practicing

privileges there, so he knew who all to call. He talked with the hem/oncs and

discussed the marrow/biopsy plans. He also called in a UMD pediatric

rheumatologist who he works with to come and see us on Saturday morning (Sinai

doesn't have a ped. rheum on staff). We would also get a visit from an

infectious disease specialists on Monday/Tuesday. Saturday morning the ped.

rheum came in to see us and did his examination (no blood work but he requested

a few add ons to 's daily workups). Saturday night needed a RBC

transfusion because his RBC dropped way low, and the rest of the time was

hydration and fever management. Saturday evening our pediatrician came up to

visit us and talk over the plans.

There were 4 leading possibilities that all of the doctors had come up with: 1)

Leukemia, 2) HLH (Leukemia's scarier cousin), 3) JRA, 4) ehrlichliosys (disease

from a tick bite). The down side was that HLH, JRA and ehrlichliosys all had a

tendency to show very similar bloodwork results in the early stages. The

treatment for ehrlichliosys is a course of doxycycline – since it was a simple

treatment, wouldn't interfere with the testing for the other possibilities, and

low risk/high reward, we went ahead and did the abx treatment for the ehrlich.

Unfortunately, the bloodwork didn't improve rapidly, so that diagnosis was ruled

out.

Monday they did the marrow draw and spinal tap, which, fortunately, ruled out

leukemia. We were then left with JRA and HLH as the two possible candidates.

Again, we were still stuck in the position of not knowing for certain which he

had. When he entered the hospital he had 5 of the 7 clinical markers for HLH

and by the time he was discharged he was down to 2. This confused the hem/oncs

to a degree – typically when they see HLH (they haven't seen many cases but they

have seen some) the patients don't get better they get worse. So it was either

a " spectrum " variety of HLH that was caught early or it wasn't HLH at all. They

even sent blood work to Cincinnati Children's Hospital where one of the leading

HLH doctors works for some genetic testing and that came back ambiguous for HLH.

So, given all of this information, the doctors all huddled together and decided

that if it were HLH, there was little risk to to start treatment for JRA

(the ped. rheum was 100% convinced this was early onset systemic JRA) and

continue to monitor his progress. The hem/oncs agreed since part of the

treatment for HLH is steroids and at worst it might just delay the definitive

HLH diagnosis, if it were to prove to not be JRA.

In December we started a 1 month course of naproxen to see if he'd respond to

the simpler front line approach. His January bloodwork showed he had simply

held steady and not really improved, so we moved on to oral prednisone. We had

a slight hiccup about 2 weeks in to the treatment where he started vomiting all

of it back up within 10 minutes of dosage. So we changed from Pedipred to

Prelone – the Prelone was a higher concentration so he got less at a time (went

from 2 tsp down to ½ tsp twice a day). That made a world of difference and he

started keeping the meds down fine.

Late February bloodwork showed that the steroids were doing their job. Our ped

saw that bloodwork and said that almost all of the signs of inflammation were

down to near normal levels. In light of that, he was officially discharged from

the hematology/oncology clinic (as his doctor there said it's always good to be

discharged from the oncology clinic! ). In early March the ped rheum

started him on a once weekly oral dose of methotrexate, hoping that we can get

him off of the prednisone sooner rather than later. So far he's had 3 doses of

that and we'll go back at the end of March for another round of bloodwork. But

he seems to be tolerating everything quite well.

We have a few side effects of the steroids and methotrexate – he's eating almost

everything in sight and getting a little chubby again and round in the face.

That and sun sensitivity (which we learned the hard way this past weekend when

he got sunburned… ). But otherwise no major side effects and he's growing

and thriving well. He's even been cleared to be back at daycare (went back in

early February) and he is doing so well there again. So while we're still

working with this diagnosis and treatment, life is slowly starting to return to

normal.

So the moral of that novella I just wrote (sorry about that!!!) – has

almost always presented as a fairly " well " child, with the exception of when he

crashed and was in the hospital. And then he didn't even look as bad as his

initial labs showed. He's never had swollen joints, has been a fairly happy,

normal acting kid. It wasn't until you saw his bloodwork that you knew

something was going on. All of his doctors said they were surprised. That's

part of what really gave the hem/onc docs pause was how well he presented.

rarely has fevers anymore (the last one he had was when he had the flu

about a month ago) and never has the rash. I really think that the steroids

have taken care of that.

I know very little about Kinerit but I am sure that others here will.

, I'm sorry to hear that you're little one was diagnosed with JRA, but it

sounds like with some tweaking of her treatment she will be able to stay on the

path to getting better. I wouldn't worry about not having had cancer ruled out

and/or tested for. While I'm not an MD, my thought is that if your doctor felt

that it was a possibility, something else would have shown in the blood work and

he/she would have sent your daughter to be checked. What threw up the red flag

with was how mad so many of his specific markers were.

I hope that some of that information was useful, if anything for a touchstone

for another little one's experience.

Hugs!

Sharon (, 16 months old, systemic)

March 22, 2011

Hmmm. I find your email very interesting. You mention HLH as a disease to be

ruled out. It is interesting because your son was admitted under

hematology/oncology. I am thinking they refer to it as HLH, thinking it might

be secondary HLH or reactive HLH. Another name for secondary HLH is macrophage

activation syndrome.(MAS) I imagine your course and tests might have been a

tiny bit different if you were initially admitted by ped rheumatology.

Your son had many of the markers for HLH. Many systemic children present with

MAS at initial diagnosis of systemic jra. Hematology would have treated it with

steroids and etoposide. A pediatric rheumatologist would treat it with steroids

and cyclosporine. I would much prefer my child to be treated with cyclosporine

than the strong chemo drug of etoposide.

Sharon, you should be aware of MAS as a systemic parent. It is a very rare and

life threatening complication of systemic jra. Many times there are triggers

for it. Mono is a classic trigger. There is some thinking that all systemics

eventually get MAS, either the clinical symptoms or the lab symptoms. Now that

you are under the care of a ped rheumy they will always keep an eye on your

son's labs and watch for it, as it seems he was traveling down that path when he

was initially hospitalized. Take care, (n, systemic, 22, and a MAS

survivor-barely)

On Mar 22, 2011, at 8:18 AM, sharon.peabody wrote:

> Hi folks!

>

> Happy Tuesday to everyone. Sorry I wasn't here much over the weekend - took

the kiddos to Grandma's for a visit.

>

> Last week W had asked some questions and I figured I'd share how we got