Chasing a Phantom: Finding a Diagnosis Part 1
Updated: Sep 8, 2021
Yesterday my daughter had another plethora of medical appointments. We put on our happy faces to continue our very long and laborious journey back to her well-being. Five appointments, in five different locations all over Chicago, over an hour from home truly makes for a very long day. These days are especially long given we are closing in on 2 years of an extensive search of what cause her health to take a turn.
Lexie began her medically mysterious life at the age of 3 when she entered puberty precociously and faced her first bought of eczema. From then it seemed like every 2 years her body would find new ways to surprise us. However, after she was diagnosed with Type 1 juvenile diabetes and Hashimoto's thyroiditis at age 7 any other issue that came up were always addressed as being a side effect of one of these 2 conditions. Not being an expert on autoimmune diseases, even though I was getting frustrated, I often accepted what the doctors told us and figured there was nothing much we could do.
At age 15 Lexie found herself one day in debilitating pain, hardly able to walk, and couldn't find any relief. From that point we spent 6 months seeing doctors, making trips to the emergency room, trying pain medicines, going to physical therapy, and still getting no relief. I was watching my good natured, full spirited daughter crumble into a shell of herself. At one point, after so much intervention and no relief, I wondered if she might be faking the condition. I just couldn't understand why nothing was helping. The only thing that didn't make sense was if she was "faking" why would she go as far as to ruin her summer break and drop out of all activities she loved.
Before being able to return to school for the next year she needed an evaluation from her endocrinologist. At the beginning of the appointment the doctor asked Lexie how her summer had been and she lost it on him. Lexie broke down in screams and cries unleashing 6 months of pain, of fear, and of frustration onto this unsuspecting physician. Shocked by Lexie's outta left field response the doctor began to ask what Lexie had gone through over the last 6 months and why no one had resolved this pain yet. We explained how even 9 weeks of P.T. two times a week did nothing and that the physical therapist thought it was time someone took some imaging.
This type of imaging was out of the scope of practice for the endocrine but he managed to figure out a way to write an order the insurance would cover so we could get her back MRI-ed. The scan was for the lumbar section of her spine and was ordered with and without contrast. It took about 90 minutes for both scans and it was about 9:00pm when we left the diagnostic center about an hour from home. I only made it about 20 minutes down the road when the radiologist called and asked me if I had brought in my mom and not my daughter. I explained I had brought in my 15 year old daughter and asked why he asked. He explained he had never seen this kind of deterioration or injury in a spine of someone so young without incident. He then stated to make a clear and concise evaluation of her spine he also needed to see her thoracic and sacral spinal regions.
Great! It was hard enough to get a doctor to order the first MRI, I'm getting two more was going to be a walk in the park. It took a week of arguing with 3 different doctors to finally get one of them to order the last 2 scans so we could get the full idea of what was going on with my baby girl. When the radiologist emailed me the report I was beside myself. There was a list of at least 10 different areas of her spine with either malformation, deterioration, breaks, stenosis, slippage, or kyphosis. But there was no understanding to why, what had happened to cause this much damage. The one thing I knew for sure was my baby girl was definitely not faking anything, her pain was very real, we just had no idea how or why the condition existed.
The scans were sent to Lexie's general practitioner and after reviewing them he realized the only option was to refer her to a neurosurgeon at the Children's hospital in Chicago. It took a few weeks to get in to see him and after an evaluation and a second visit he referred us to an orthopedic surgeon letting us know it was more complicated than her general practitioner had believed. A couple more weeks passed and we finally were able to see the orthopedic surgeon. At a teaching hospital many times the resident comes in first to get a feel for the condition before bringing in the seasoned doctor. It took the resident about 2 minutes to figure out what Lexie had going on in her spine was beyond his understanding and he excused himself to grab the surgeon's physician's assistant.
She came in with the resident, reviewed the scans, spoke to Lexie about what she had been going through, and asked how she had been feeling. Lexie again unloaded but was able to be less vicious than she was with her endocrinologist originally. After doing a full work up of Lexie's current conditions the P.A. excused herself along with with the resident to go consult with the surgeon. There we sat again for what seemed like forever waiting for someone, anyone, to return.
When the surgeon entered the room he introduced himself and spoke directly to Lexie. Asking her about what she had been through, how it had impacted her life, what she has tried, and what she wanted to happen. Lexie took a deep breath, holding back tears, and said "I don't want to hurt anymore, just make it stop." The surgeon asked if I had anything to add and I explained Lexie had it pretty well covered. He then explained what he could see in the MRI, what was found in the CT scan the neurosurgeon had done, and what the best options were for her in regards to surgical intervention.
The surgery was a long complicated procedure that could render her "pain free" almost immediately. After he made that statement he could have told Lexie he had to set her on fire in order to accomplish this procedure and she would have been okay with it. After almost 7 months of incredible pain there was a doctor finally confident he could fix her. However, given Lexie's other medical concerns he wanted her to work to best optimize her health before they would operate because the recovery would be easier if she started in the best shape possible. They also wanted us to bring all of her care under one roof through the children's hospital and it's doctors.
And the race began...