When the Denial Isn't Yours: SSDI

My experience in pursuing my disability approval has been one that has made me sink to one of the lowest moments in my life. After getting my first denial for disability, it gutted me. But, this second time, it crushed me, while at the same time, made me want to fight for all of the other people who have experienced the same or similar treatment by the powers that be.

When the government says you aren’t disabled, but you have all of the doctor's notes, lab results, and hell, even a genetic test that revealed a mutation in my collagen that is associated with Ehlers Danlos Syndrome, it becomes such a mindfuck.

It is as if the government says you don’t have a right to be alive, since, in their view, I am just a lazy sack of crap who just chooses not to work. When, in reality, my body is slowly falling apart, my shoulders and hips pop out of place if I move sometimes, my core temperature drops often, with my hands being 60-70 degrees (about 20 degrees cooler than they should be), my nausea prevents me from eating most days until after noon (or even all day), I have widespread pain that is present on a constant basis, and medications have very little pain relieving effect on me due to the source of my pain and symptoms.

However, according to the government, I am free to work with very little in the way of restrictions. The part (okay, there are several parts actually) that doesn’t make sense is that during my hearing with the judge, the vocational therapist stated that I would not be able to hold down a part time job while also missing four to five days per month, unscheduled, due to my really bad pain flare days. So, how do they expect me to work in any capacity?

So far, my official diagnoses include:

• Degeneration of intervertebral disc
• Diverticulitis
• Gastritis
• Ice Pick Headache
• History of excision of lamina of lumbar vertebra for decompression of spinal cord
• Hypermobility syndrome
• Hypertension
• Hypothyroid
• Insomnia
• Irritable bowel
• Neuropathy
• Primary fibromyalgia syndrome
• Pilonidal cyst without abscess
• Psoriasis
• Scoliosis
• Vitamin D deficiency

Additional symptoms:

- Nausea every morning to the point of not being able to eat until 2-3 pm (ongoing for a few months, no appetite)
- Pain is widespread (this week from knees to elbows and hands, still sharp pains in the morning when feet on the ground)
- Increasing progressive muscle weakness (arms and legs)
- Interrupted sleep due to pain
- Hips and shoulders have increased pain and incidents of subluxation of joints
- Gastro issues (constipation, cramps, partial prolapses)


- Referrals for:

- Neuro is scheduled for next month (locally) and will have nerve conduction study and EMG done
- Immunology for mast cell activation (no local providers available until next summer)
- Dermatology (waiting on local, but has been approved)
- Cardiology (waiting on local, but has been approved)

- Physical therapy 2xs per week
- Occupational therapy 1x per week (had to cut back from twice a week due to fatigue, nausea, and pain)
- OT suggested and fit me for ring splints that will be needed on all of my fingers, aside from thumb. Also measured for forehand brace due to instability in hand

From my genetic assessment:

Variants of Potential Clinical Relevance Gene Info GENE INHERITANCE COL12A1 NM_004370.5 Autosomal Dominant & Autosomal Recessive Variant Info VARIANT ZYGOSITY CLASSIFICATION c.2323A>G Heterozygous Unknown Significance p.Arg775Gly Heterozygous Unknown Significance
About COL12A1 Autosomal dominant mutations have been associated with Bethlem myopathy 2 (BTHLM2), also known as myopathic-type Ehlers-Danlos syndrome (OMIM: 120320- PubMed: 24334604). Key features of BTHLM2 include distal hyperlaxity, muscle weakness, skin changes, and joint contractures. Biallelic mutations in COL12A1 have been suggested to be associated with Ullrich congenital muscular dystrophy 2 in a few patients (PubMed: 24334604). These two disorders represent a clinical spectrum including Bethlem myopathy at the mild end and Ullrich congenital muscular dystrophy (CMD) at the severe end. The gene product of the COL12A1 gene is a protein called Collagen, type XII, alpha 1.

At least this next appeal will have more documentation, as I am scheduled to see a neurologist, cardiologist, dermatologist, and immunologist within the next few months. Will their notes, combined with my rheumatologist, ophthalmologist, and podiatrist notes be sufficient? Who knows.