This week brought me two orders of magnitude, perspective, and frames of reference in our life with EDS & POTS.
First, the macroscopic good news. I never thought that hearing the words “I know what kind of wheelchair I want” would bring me joy. Craziness, you say! Perhaps. Yet Sophie is limited, restricted, tied down and isolated because of her disability. For a year and a half I’ve wanted to lead her into new experiences and push her into the world on the wheels of a mobility aid. Her determination to defy and resist the wheelchair, and all that it implied, was a defensive wall I could not break through. No amount of rational argument, supportive discussions, badgering, hinting, begging, and outright parental guilt would budge my beautiful daughter to consider this: the wheelchair means freedom, not a prison.
Until this week. She told me that she wants to go to museums, stores, classes and the outside world and she understands that getting a chair will mean that she can. She wants “nothing colorful, nothing flashy, nothing that makes people see only the chair.” She is correct. We will find the perfect chair for her and our first stop is the High Museum!
Now, for the microscopic bad news. Since July 4, 2015 (the day Sophie became very sick), I’ve always wondered just what it was that sent us speeding off to the hospital in Alpena, MI. Sophie was in so much pain that my heart was breaking to see her in the back seat trying to cope. She was feverish, in agony, white, shaking, grey, green, and then towards the end of the ride to the hospital, nearly unconscious. We left the hospital hours later with no definitive diagnosis — just a vague “it’s probably irritable bowel syndrome.” Our only comfort was knowing we’d get a good diagnosis in Atlanta when Sophie was able to travel back south. Three days later she was well enough to make the trip home.
Fast forward to May 2017. Sophie and I received our first set of genomic testing results beyond our EDS COL5A1 marker. And, guess what. Sophie was marked for “adolescent onset hereditary pancreatitis.” And here are just a few lines from the perfect description by the genomic labs that accompanied her results: “Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer.” Now, there is much more to the description of her pancreatitis, but there it was. The answer to what started this whole downward spiral.
Where’s the microscopic in getting that big answer? Well, the gene responsible: PRSS1 and the minuscule variant/mutation on that gene: NM_002769.4:c.47C>T heterozygote.
So, how am I sure that’s what Sophie had? Well, once I got her genetic results, I sent to the hospital for her medical records from that awful visit. And there it was — staring me right in the face in her test results. Why the hell couldn’t the doctor see it? It was actually flagged automatically in the appropriate column of the results page. And, why the HELL did I see this arrogant, careless manner in the doctor’s notes that accompanied the medical records?
He actually passed this off as “not really appear to be in any pain at all,” a history of anxiety and possibly some premenstrual cramping?! Hey, I’m-Not-A-Real-Doctor-And-I-Don’t-Even-Play-One-On-TV: take a look at the highlighted ketone levels and let me know if you suspect ACUTE PANCREATITIS? Hers were at 20! They are supposed to be between 0 and 4. And it was actually, physically highlighted on the results page. There is no excuse for you missing this!
Ok, now that my anger is slightly subsiding, I’m trying to figure out what to do with the fact that we needed that correct diagnosis to treat the attacks she’s had since then that we thought were IBS. This missed diagnosis actually caused permanent damage to her pancreas and I’m sitting here trying to tell myself that it’s still not too late and now that I can pass this information on to her current doctors we may be able to stop further damage.
If there’s anything I want to communicate about this episode it’s this:
To parents of children with chronic, invisible illnesses: You are going to have to become medical investigators, experts in your child’s rare disease, aggressive and unrelenting advocates for your child’s health, educators to the great doctors who aren’t fully trained in your rare disorder, and regulators of careless and substandard doctors like we experienced in 2015. Don’t give up. Keep reading. Keep learning. Plug into Twitter, Facebook, online medical journals, public library accounts that provide access to university research, rare disease sites and other parents. You will become more knowledgeable than 98% of the doctors you see about your child and their specific reaction to the disease you battle.
All for now my beloved friends and family. Thank you for taking this journey with us because when I’m able to write to you, I’m able to better help Sophie.