The story of Jennifer
The purpose of rare disease day is to shine a light on rare diseases and advocate for health equity for all those living with a rare disease. According to the CDC, Health equity is achieved when every person has the opportunity to “attain his or her full health potential” and no one is “disadvantaged from achieving this potential because of social position or other socially determined circumstances.” Health inequities are reflected in differences in length of life; quality of life; rates of disease, disability, and death; severity of disease; and access to treatment. With this in mind, I thought there was no better time than rare disease day to share a medical experience my daughter, who has a rare disease, suffered through this past year.
When you have a child who is medically complex and so limited physically, verbally, and socially, it’s all about quality of life. As their parent, you guard that quality of life fiercely. For my daughter, eating is one aspect of quality of life for her. Although she has a g-tube for fluids, she loves bold, spicy flavors of all kinds in pureed form and I love the look of pure joy on her face with each bite.
I spend hours every month choosing recipes, preparing meals, pureeing them, and putting them in containers to freeze or refrigerate for upcoming meals. It’s a lot of work, but her quality of life is of utmost important for her and to me. There have been times I have resorted to the pre-prepared meals for convenience when traveling or on doctor appointment days and her disappointment is palpable.
One of her many medical challenges is intractable epilepsy, and although the ketogenic diet might provide some relief from those dreaded nightly seizures, the chance of it stealing her joy with food is enough for me to say no to the diet. You get the picture. Eating for her is life and we will go to great lengths to protect it.
This past summer, something slowly stole her love of eating. She seemed to be in pain and nauseous when she ate and she was full after only a few bites. Where she used to open her mouth for another bite faster than we could scoop food, we now had to coax her to eat even though she still looked at her food longingly. Meals were taking at least an hour to get through and were no longer enjoyable. Something wasn’t right and like any loving parent, I took her to the GI doctor to try to get to the bottom of it.
Her current GI was not helpful or empathetic so after over 10 years with this particular doctor, we left so my daughter could see a motility specialist in the hopes of getting a piece of her quality of life back. This specialist, after not examining my daughter or engaging with her in any way, suggested I just use her g-tube more if eating was becoming difficult.
You know that horrible feeling you get in the pit of your stomach when you know something just isn’t right? This was the beginning of 7 months of that feeling eating away at me, fighting not only for my daughter’s quality of life, but her actual life. Instead of spending hours preparing her favorite meals, I spent hours writing impassioned emails, trying to convince doctors she was worth the work they would need to put in to figure out what was wrong with her.
In August, 2 months into the feeding difficulty issue, my daughter had a VNS (vagus nerve stimulator) placed. A week later, her WBC count was high, she had tachycardia, and was obviously fighting an infection. The clears culprit would seem to be the VNS, right? Only there were no signs of infection over the incisions, causing them to dismiss an infection in her device. A month later, she was ill enough that I rushed her to the ER where they originally diagnosed her with pneumonia and began treatment. However, the inpatient team disagreed and stopped treatment 2 days later. As her WBC count, CRP, and fever went down, they dismissed the whole thing as viral, again reassuring me it had nothing to do with the VNS.
A week later, we went home without answers, but the pain and feeding issues continued. Over the next couple months, her WBC count would flare up and then calm on its own, perplexing multiple specialists. In November, she had motility testing that only showed a portion of her colon that was no longer functioning, likely due to a virus. Also in November, she began choking badly when eating and we started making the rounds among multiple specialties. The nearest children’s hospital to us is 2 hours away so these visits required sacrifice financially, emotionally, and physically, but my daughter having a chance at the life she views as worth living makes those sacrifices completely worth it.
I asked her neurologist to turn down the VNS, convinced it was that, and he did. The choking improved slightly, but never returned to normal as my daughter again sacrificed quality of life. An abdominal and neck CT in December showed no obvious causes of her pain, WBC abnormalities, or intermittent fever. The VNS also appeared to be infection-free and it and the leads still in place and intact. Also in December, a cardiologist ruled out heart issues contributing to the tachycardia and an endocrinologist found no obvious concerns with her endocrine system.
January brought even more severe choking, but slight improvement with antifungal treatment (on a hunch we are dealing with esophageal thrush) until the next week brought a bought with aspiration pneumonia. Towards the end of the antifungal and antibiotic regimen, we were faced with severe urine retention and a swallow study that stole the last bit of quality of life we had retained up to that point. My daughter would receive all of her nutrition via g-tube and we went home with instructions to cath her if needed. While inpatient, I pleaded our case like I was pleading for my daughter’s life because, at that point, that’s what it was beginning to feel like. The GI had refused to do any other testing before this point, but the inpatient doctors encouraged it.
Like every other test she had had done, it confirmed something wasn’t right. There was inflammation in her esophagus and mild inflammation in a specific part of her stomach, but according to the GI, no real answers. I was being told over and over that this was just where my daughter was. It was a form of regression. She needed a brain MRI. There was no medical reason for her symptoms. Until a week later when her disaccharidase analysis came back showing she had a severe lactase deficiency and her body was incapable of processing lactose at all.
This was the push and encouragement I needed because I was probably at the lowest and most discouraged, I had ever been as her mom and advocate. This was not an answer to the choking, WBC issues, or the tachycardia, but it was likely the answer we had begun searching for over the summer. I went back to what I had believed was the cause of the other medical concerns all along, the VNS. Researching VNS and side effects didn’t get me anywhere, but studying the vagus nerve and all it controls, did. “If the vagus nerve is not functioning properly, it can cause GI inflammation, tachycardia, dysphagia, urine retention, and blood pressure irregularities, among other things” (Cleveland Clinic).
Therefore, it seemed plausible that for some reason, the VNS had caused these problems for my daughter. A little over 6 months after having her VNS placed, we visited the neurologist to have it deactivated. I wish I could say the recovery was immediate, but it is going to take time. Even if she can regain everything she lost, there are things we lost that we will never get back, time being the biggest thing. In the first week after turning the VNS off, there were obvious, encouraging changes, though. Her mood improved drastically, the urine retention got better, and we started noticing exaggerated swallows and less drooling. In the face of multiple doctors telling me my daughter was regressing, that I needed to accept what she had lost, and that there was no medical reason to explain that loss, I was forced to figure things out myself. This isn’t the first time this has happened, but it was the most serious, terrifying, and demanding.
In the spirit of Rare Disease Day and fighting for healthcare equity, we have our work cut out for us. First and foremost, doctors need to see the life in these individuals instead of focusing on the limitations. Different does not mean less and having quality of life that doesn’t look like most doesn’t make it less worth fighting for. Knowing what my daughter and others like her must overcome just to live, my heart breaks to think that anyone could look at them and not see them as worthy of everything we have to offer them. To know there are doctors that see them this way is purely inconceivable and unacceptable. We must do better. It’s time to do better.