For over five years, our sweet Madison has experienced various symptoms that ranged from mild to severe in a roller coaster train of events. Increased fatigue and a droopy eye were the first signs but she was only 11 so we didn't pay too much attention to it. We dismissed it as pre-teen years and stress.
Then came the colds and allergies that wouldn't go away. Visits to the pediatrician more frequently for respiratory infections and allergy testing. She had asthma and couldn't breathe easily. She started to run and things seemed to improve. But, then she would get another infection and feel worse.
As she moved into the teenage years, she began to have difficulty walking, breathing, forming sentences, and remembering things. The optometrist found a visual field defect and an MRI was ordered. Perfectly normal. Neurologist appointment. Nothing wrong. We watched our bright-eyed, social, and friendly child struggle to deal with a body that was rejecting her.
The worse part was at the office of a rheumatologist who told her that it was all in her mind. She had made it up. She had muscle atrophy...after running a half-marathon. The damage was done and irreparable.
More doctor's visits with no answers. We were so frustrated. She was depressed and anxious (more on that later from her vantage point). We were left with a great sense of helplessness.
BUT GOD...oh praise the Lord for His glorious plan.
Whenever Madison gets sick we take her to the doctor immediately to nip it in the bud because illnesses cause her to be sicker longer than our other kids. She had developed an ear infection so we headed to the pediatrician on a Monday morning. Our usual gal wasn't there so we saw another doctor. He wasn't familiar with her POTS diagnosis and gave her some ear drops and an antibiotic. He said she would be much better by Wednesday. She wasn't. In fact, she was in a fetal position and crying on Wednesday from the pain.
We went to the after hours clinic which we had never seen before. We were the first patients for the evening and wondered if we were even in the right place! Madison was taken to a room where the doctor arrived within minutes. I gave him the run down of the situation, and he acknowledged that he knew about POTS (thumbs up for him). But then, he began questioning me about her dental issues, flexibility, and family medical history.
At this point I am repeating "ear infection" in my mind over and over again. I wonder how I pronounced it and what it was he thought I said. I'm trying to rearrange the letters into some other illness to see what he is doing. He proceeds to have Madison do "tricks" with her body and asks her a ton of questions. Then, he checks her ears.
Yep, she has an ear infection. The medicine given to her won't work with POTS patients. She needs a different type. He prescribes it and then...
He begins to tell us that he doesn't usually work at the after hours clinic. He is a geneticist at the Undiagnosed Disease Clinic at UAB. Well, of course he does. He has seen this type of patient before and he thinks Madison has Ehler's Danlos syndrome with POTS as a secondary condition.
Well, well, well. We couldn't get into the undiagnosed disease clinic because she already had the diagnosis of POTS (postural orthostatic tachycardia syndrome). BUT GOD...He sent us a geneticist on a Wednesday night who could request a referral from our pediatrician. On a Wednesday night. At the after hours clinic. When we went for an ear infection.
We were able to see the geneticist this past Friday, and the diagnosis of Ehler's Danlos syndrome as her primary condition was confirmed. Praise the Lord above. Six years and we have a real name for her issue! She has POTS as a secondary condition that is caused by the Ehler's Danlos.
With that knowledge he is sending us to the Mayo Clinic in April, and Madison will learn how to deal with her condition more effectively. Some physical therapy, occupational therapy, continued diet changes, and medicine will go a long way. She still has to get the sleep issues under control but the pulmonologist is helping with that!
We praise our Father for His mysterious plan. He has refined us in ways we cannot even explain. We are in awe of the ways He has worked in Madison's life for His great glory and all of our good. He is a good, good Father. And we are humbled and grateful for His ways.
