When you start a journey that consists of doctor appointments and testing, you can grow weary of learning what you don't have. To make an accurate diagnosis, doctors have to rule out the most likely suspects first. Then, they start thinking outside of the "normal" realms and start looking at the rare. There are approximately 7,000 rare diseases affecting 300 million people worldwide. I am one of those 300 million. One in 30 million people in the United States has a diagnosis of a rare disease. I am one of the 30 million. I have six rare diseases.
What makes a disease rare? For a disease to be declared rare, fewer than 200,000 people in the United States are diagnosed with that particular disease. Sadly, more than 90 percent of rare diseases are without an FDA approved treatment. Most treatments provided are administered to help the patient handle the side effects of the disease. For example, I take muscle relaxants to help ease the muscle spasticity and rigidity I experience from Stiff Person Syndrome, which affects one in one million people. I am one of those one million. Because it is so rare, doctors are still working to identify the best treatment methods while others haven't even heard of it much less treated a patient with this disorder.
Most people look at me and tell me that I look great. While I physically feel anything but great, I have a peace that exudes from me. God is my strength when I literally have no reserve energy to lift my foot up one more step or get up from the floor after a fall. He is my anchor in this storm.
I climb into bed every night, put on my silk cap and place my headgear on for my CPAP to help prevent me from having episodes when I don't breathe while sleeping. I have to sleep in a hospital bed to help prevent muscle spasms. The legs and head must both be raised. In the morning, I have great difficulty getting out of bed due to stiffness. My muscles don't want to move. I get out of bed and meet my mom in the living room where she usually has a cup of coffee waiting for me. I am wobbling more while using my cane and we have agreed that I need to use my rolling walker daily as it is safest because I have another rare disease called Dermatomyositis which causes muscle weakness and wasting. I have visible divets on my legs where the muscles have withered but you cannot see them hidden beneath my pant legs. We know that it is not a matter of if but when I will end up in a motorized wheelchair.
I also have to watch what I eat. I eat smaller meals throughout the day and cannot eat healthy food like whole grains, fresh fruit, and fresh vegetables because my system cannot digest food easily. I have another rare disease called Gastroparesis, which literally means my stomach muscles are paralyzed. I also try to eat softer food and avoid things that have been known to make me choke. Because of these diseases, I have difficulty swallowing at times. My speech also gets slurred when I am worn out. My chest muscles will also spasm making it difficult to breathe. Thankfully, an asthma inhaler helps to ease the spasms.
I have to take medication to prevent my intracranial pressure from increasing. This is due to my rare disease known as Idiopathic Intracranial Hypertension. A lumbar puncture or spinal tap confirms that the medication is working. Praise God! I also have to be aware of my body to ensure I don't have an adrenal crisis. Finally, I am hypervigilant about handwashing, hand sanitizer, and avoiding crowds when the flu is at its worst. I have the rare disease Common Variable Immune Deficiency. Any virus and infection place me at a greater risk because my body doesn't have the ability to fight them.
Most days, God's joy exudes from within me. You need to know that I recently had tears streaming down my face as I admitted what my mom had already witnessed for herself: my health is getting worse and I am physically struggling more. Walking is becoming much more difficult. I am stiff, like a tin man needing oil after the rain. I am weaker and unable to stand for even shorter periods of time. I hurt as muscles stiffen and spasm sometimes causing damage in their wake as they leave bruises from broken vessels, sprained, strained, and torn muscles. After talking to my mom, I was listening to music when "Scars" by I Am They began streaming. As I sang it through my tears with each verse getting stronger with conviction, I hear my son say, "Now, that's my Momma!" I may be one in a million but these rare diseases don't define me. My identity firmly rests in being the daughter of my Papa God. He blesses me, has chosen me, He loves me, He redeems me, He forgives me, He has a purpose for me (Ephesians 1). Can He heal me? Yes. Like Paul, perhaps I am to endure these diseases as He uses my brokenness to bring Him glory. I'm honestly fine with that because I know He is fighting my battles for me (Exodus 14:14). He is my rock, my fortress, my refuge and my shield (Psalm 18:2). God is my deliverer (Psalm 144:2).
I will keep persevering with God as my leader. I will keep fulfilling His purpose for me. I will continue to let His peace envelop me and exude His joy. I will continue to count my diseases as a blessing for they bring Him glory. Don't give up, dear ones. No matter how bleak the day may seem, there is ALWAYS hope!
