Connecting the Dots…Maybe?

Fingers

 

Several weeks ago “When in the Trenches” was posted the little and I had just come back from another blood draw and glance over her chart with not much muttered from the specialist. My little is just a data collector’s nightmare at this point. However, yesterday a little light burned brightly for a moment on her situation.

So let me back up a minute to make this little whirl wind situation make sense…

Back in April, Middle had a strange thing happen while pitching. His index finger turned purple and looked frostbitten (pictured above). Of course, this created a little alarm, but I figured he broke it and shrugged it off as another thing I’d need to handle in our ever busy daily lives.

Sometimes I write off mother of the year by mid New Year’s day, this year I waited until April! 

After our general practitioner (GP) examined his finger, several days later, he ordered us straight to the ER for an ultra sound of his arm looking for clots and blockages because his finger was not broken. Now the concern in the back of my mind heightened a bit. We sat in the ER for six hours while they ran several tests. Fortunately, nothing was blocked but they moved us along to a vascular surgeon.

Which, for those of you with tween kids (those between childhood and adulthood) it is damn right near impossible to find specialists who deal with kids ages 12 to 19. A few reasons exist for this weird little window of time:

  1. The majority of health issues happen in the younger years or the older years.
  2. Traditionally kids in the 12 – 19-year-old age group are the healthiest human beings on earth, so there is no good reason to study them.
  3. If few specimens exist to study nobody is willing to pay research costs for only a few souls.
  4. Structurally these kids are still growing, but not at the rates of 0 – 12. They are also not finished, so their bodies do not behave like those of the 20 + crowd when medical treatment occurs. This leaves these kids in a black hole.

Unfortunately, this leaves families of those age group kids at a disadvantage when looking for specialists who deal with issues beyond the typical situation. There is very little research done on this age group when situations arrive because few patients exist making beat groups difficult to assemble and follow. This has been the underlying problem with Little’s Knee as well.

After begging the CHOC hotline for a teenage vascular specialist, a doctor was suggested and more testing happened with his on and off again purple finger. At some point during a conversation with the MIL, she announced that she and her sister were diagnosed in their 20’s with Raynaud’s Disease which causes a swelling and vascular shut down to appendages. Fueled with this bit of information the vascular surgeon ran a few marker tests and things came up negative. However, without some deeper genetic testing he could not rule out that the mysterious finger was not due to some small interruption in the generic code of the Middle. Fueled with relief he wouldn’t lose his arm or stroke out from a clot life moved on as usual.

Yesterday, kids’ annual check-ups, and get the Epi-pens renewed and paperwork signed for entrance to school, were on the list of things to do. Everything was fairly typical until our GP, who has been their primary care taker since birth and my doctor since I was 18, asked Little about her knee.

“So, does the knee still bother you? I see Dr. X sent another set of test off in early August.” He’ s writing notes and glancing up from his roll about stool.

In her typical I’ve-given-up-caring-about-me-knee-voice, “Well, it hurts all the time with severe throbbing about every few weeks now instead of daily. I just move on because nothing can be done. I’m not letting it stop me from activity if that is what you’re asking.” She smiles and he laughs a little at her teenage attitude (he is the father of six so he understands attitude).

“By the way what do Autoinflammatory and Autoimmune mean?” She asks with an innocence about her. I was a little shocked by her question. It’s been three years since this all began.

Who knew she didn’t really understand the terms?

He goes on to say, “It means doctors really don’t know shit and cannot determine why your body is acting out against itself and we need to investigate more.” Our GP has his family practice, but he is also one of the leading trauma ER doctors on the West Coast and also teaches courses at one of our local colleges. He has a dry sense of humor and he says things like they are, with no filter!

Moving forward he begins his examination of the Middle, talks college with him, then asks about the finger, as he again glances at some paperwork he’s been sharing with the ER and vascular surgeon over the case. Once the Middle mentions the word Raynaud’s Disease the bells lights and whistles go off on the doctor’s face.

Verbal diarrhea begins flowing faster from his mouth than I can intake. His medical jargon and ADD thought spewing has my head spinning. Once he finishes jotting notes and medically connecting some dots he lays out everything in layman’s terms, kind of…

He wants to send a new set of blood and genetic marker tests over to the case study on Little. Raynaud’s is classified as an Autoimmune disease with restrictive properties which are caused by swelling – inflammation. If Little has traces of Raynaud’s in her genetic code it may have manifested in a different way, because I do not have it and neither does the Mr., but Mr. must carry a recessive in his code somewhere. If this is true, she may have a mild case of one of the Autoinflammatories associated with, bring on bad mother of the year because he rattled off multiple letters of several different strains, which are only partial genetic code breaks. She is most likely only partially genetically tainted because my momma gene codes do not carry any markers. This would also account for the strange lymph nodes on the back side of her knee. Which could also be exaggerated due to the six years of bee immunization therapy as well. Injecting a known allergen into the system also has side effects, and he is now wondering if this is all related to her system attacking itself.

Who knew one little mention could lead to a whole new set of doors opening?

Again, I’ve sought out scholarly articles, because I love tormenting myself, about the possible little strains of what she may be dealing with. But what I found so far is she will never be rid of the pain, and not much can be done for her. She will need to learn to control the pain, and the hope is it does not manifest itself into something bigger over time. Of course, developing this little anomaly so late not much research exists on people her age. Most diagnosis is picked up in the first few years of life. So again, strange little development which puts her in a class of her own.

She’s been a trooper through this whole situation. Now every flare up, every ice pack, every swelling she bears down and works through it. Sometimes she has tears, sometimes she grinds her teeth shuttering to gain control, and sometimes she throws caution to the wind, but in the end she shows a strength I cannot begin describing. She really is my little hero with a spirit that shines brightly each and every day.

 

Please remember August is Autoinflammatory Awareness month, and if the funds are available to donate they are incredibly welcomed. Research and help for families cannot happen without funding  autoinflammatory.org

 

DSCN1086

My little, My hero!

 

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