Art: Robin Mead
Writing: Guest post by Daffodil’s mom
My daughter Daffodil was approved for Social Security Disability on her first try. We applied October 5 and received her first check December 23.
She sees Dr Peter Rowe at Johns Hopkins. He is amazing! My daughter is one of his patients “who keeps him up at night” as nothing has helped to improve her. Seeing the best doesn’t mean you get better. She is 23 and has been ill for 11 years.
The letter Dr. Rowe wrote is outstanding in outlining her diagnosis, how it impacts her, and how because fits the criteria for disability. We are happy to share our experiences.
I am active in a parent’s group and have sent our letter all over the country. Another family used it as a model with their own doctor. They got approved even faster than we were!
We applied by making an appointment at our local Social Security office. (The people in our local office were SO much better than the general phone-answering people!!) We brought a copy of this letter and the woman we met with faxed it to the determination office.
For any family applying: My best advice would be to learn the process so when you apply, you understand what is happening or will happen.
Dr. Rowe’s Outstanding Letter
September XX, 2017
Medical Summary Daffodil L (DOB: xx/xx/xx)
To Whom It May Concern:
Daffodil L. is a patient in my clinic. I first saw her on 03/24/2009, and most recently saw her in clinic on 10/15/2016. She has a complex, severe, and rather refractory form of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). This letter summarizes her course and current function.
She had eczema in infancy, as well as chronic otitis media and sinusitis in childhood. She underwent ethmoid sinus surgery at Johns Hopkins at 6 and had bilateral sinus exploration at the AI DuPont Institute in 2008. She has mild exercise-induced asthma and allergies to dust, grass, weeds, and trees. Her sweat chloride measurement was < 10 mEq/L performed at Johns Hopkins in 2000. She had experienced chronic fatigue since age 9. Initially this symptom was intermittent, and occurred most prominently in association with sinus infections.
Before age 12-13, she was able to play sports, and had a good activity level in the summers. Her stamina with sports gradually diminished over the years leading up to 2007. Her fatigue worsened and her other ME/CFS symptoms emerged in the spring of 2007 in association with a more extensive sinus infection, and she has not been well since.
Daffodil has the following medical problems:
- ME/CFS (myalgic encephalomyelitis/chronic fatigue syndrome)
- POTS (postural orthostatic tachycardia syndrome)
- Migraine without aura
- IgG deficiency
- Allergies and asthma
- Carnitine deficiency
- Thoracic outlet syndrome/movement restrictions
- Bicuspid aortic valve
- Chronic nausea
- Iron deficiency
- Cervical disc disease
- Previous Lyme disease
1. ME/CFS (myalgic encephalomyelitis/chronic fatigue syndrome):
By the time of my evaluation in 2009, she satisfied the clinical criteria for CFS (Fukuda K, et al., Ann Int Med 1994), and has continued to satisfy updated criteria for ME/CFS published by the Institute of Medicine in 2015. She has had fatigue that has a duration of well beyond 6 months on a continuous basis, of definite onset in 2007, not explained by other physical or mental disorders, not substantially alleviated by rest, and resulting in a substantial impairment of pre-illness educational, social, and personal activities. Her qualifying CFS symptoms include marked post-exertional malaise (characterized by a worsening of symptoms after exceeding her baseline level of activity), unrefreshing sleep, cognitive problems (difficulty with short-term memory and attention), headaches, myalgias, arthralgias, and orthostatic intolerance. The impairments in concentration and memory have interfered in a substantial way with her education. She was only able to manage part-time classes in the fall of 2009, and since then has not been able to advance her education. She has profound insomnia, often taking up to 3 hours to fall asleep. Treatments that have been ineffective for her insomnia have included trazodone, clonazepam, zolpidem, eszopliclone, cyproheptadine, nortriptyline, melatonin, and propranolol.
Multiple therapies directed at her ME/CFS and related conditions have not afforded much improvement in her overall symptoms and function. She is treated with dronabinol in part for sleep and nausea, and with duloxetine 30 mg daily for myalgias. Low doses of naltrexone for the myalgias were associated with increased headaches. Vitamin B12 injections did not provide benefit. Strattera for the cognitive symptoms did not help.
2. POTS (postural orthostatic tachycardia syndrome):
She has experienced lightheadedness several times a day since 2007. A standing test at the Johns Hopkins Hospital on 04/21/2009 showed a baseline supine blood pressure of 100/67 mm Hg, with heart rate of 70 beats per minute (bpm). With standing, her HR increased promptly to 97 bpm, and continued increasing to a peak of 114 bpm after 10 minutes of standing. She had lightheadedness with standing and developed moderate acrocyanosis of the legs. The HR increase of 44 beats per minutes consistent with postural tachycardia syndrome.
Daffodil obtains a modest benefit with regard to the prevalence of lightheadedness from a higher intake of sodium, fludrocortisone 0.2 mg daily, pyridostigmine bromide 60 mg twice daily for the POTS, along with 1 liter of IV saline through a central line twice weekly. Oral contraceptives on a continuous basis have helped reduce the frequency of peri-menstrual increases in fatigue. Other medications that have been ineffective or associated with adverse effects include midodrine, atenolol, pindolol, clonidine, and Adderall.
3. Migraine headaches:
She gets both chronic headaches that are bitemporal, with a variable frequency, averaging a couple per week, and intermittent migraines that occur in the same location with some retro-orbital radiation. There is no aura. There are no other obvious triggers or patterns to the migraines. They are accompanied by photophobia and phonophobia. She has no known problems with aspartame. Riboflavin prophylaxis and Relpax for abortive therapy of migraines have been slightly helpful.
4. IgG deficiency:
As shown below, Daffodils’s immunoglobulin G levels fell over time, associated with adequate tetanus anti-toxoid, diphtheria anti-toxoid, and VZ antibodies, a fairly robust response to pneumococcal immunization, but negative mumps and rubella antibodies despite immunizations having been given.
IgG (N=751-1560) IgM (N=46-304) IgA (N=82-453) Pre-IVIG
- 12/10/2002 514 105 87
- 04/24/2009 701 124 90
- 03/23/2010 722 130 92
- 10/18/2012 338 51 48
Post-IVIG 25 g q3weeks
- 04/04/2013 1000 69 59
- 07/25/2013 863 94 81
Prior evaluation when her total IgG was normal had shown normal IgG subclasses, with an IgG1 of 372, IgG2 of 245, IgG3 of 110, and IgG4 of 60. Repeat levels when she had the IgG of 338 showed a low IgG1 of 209, but other subclasses were within the normal range. Her diagnosis is hypogammaglobulinemia of unclear origin, for which she is treated with monthly Hyqvia 40 grams SC since February 2016, supervised by Dr. Bill Lavietes. She has required fewer courses of antibiotics since the gammaglobulin treatment was initiated. 5. Allergies and asthma: She has mild exercise-induced asthma and allergies to dust, grass, weeds, and trees. Her sweat chloride measurement was < 10 mEq/L performed at Johns Hopkins in 2000. Tryptase levels have been 2-3 (normal < 11 ng/mL).
6. Carnitine deficiency:
Her carnitine levels are shown below:
Carnitine (Normal, 28-84 mmol/L) Free carnitine (Normal, 22-66 mmol/L) Lab On carnitine 03/23/10 23 18 LabCorp No 10/06/10 24.3 22.2 JHH Yes 01/19/11 37.6 32 JHH Yes 04/25/13 15.2 14.2 JHH No 07/13/16 39.4 28.7 JHH Yes
She has normal urine organic acids (11/22/10) and plasma acylcarnitines (11/17/10 and 05/30/13) at the Kennedy Krieger Institute lab. Carnitine supplements have raised carnitine levels into the normal range but have not been associated with clinical changes. She has been evaluated by Dr. Hillary Vernon in Genetics, but no specific mitochondrial or metabolic disorder has been identified. She is currently on an empiric regimen of carnitine, riboflavin, co-enzyme Q10, vitamin C, and B-complex vitamins to determine whether mitochondrial therapies will have an impact on her general symptoms.
7. Thoracic outlet syndrome/movement restrictions.
Daffodil has had numbness and tingling in the arms, warmth, and lightheadedness, typically when she is washing her hair and putting dishes away and other postures involving an arms-overhead position. On examination on 10/29/2015, her upper limb tension testing with a median nerve bias elicited stretch at 100 degrees bilaterally (normal 180 degrees), indicating a substantial limitation in brachial plexus nerve glide and function. She had tenderness to palpation of the pectoralis minor muscles. The elevated arm stress test (Roos test) showed numbness in the arms within 30 seconds, followed in the next 30 seconds by facial flushing and warmth, and by lightheadedness. Her arms felt heavy.
In March 2016, the venous Duplex ultrasound demonstrated an increase in flow in the right subclavian vein and a decrease in flow in the right axillary vein with arm abduction. There was an increase in flow in the left subclavian and axillary veins with arm abduction. Arterial duplex evaluation demonstrated an increase in flow in the subclavian and axillary arteries bilaterally with arm abduction. She has been evaluated by Dr. Ying Wei Lum in Vascular Surgery, who has confirmed the diagnosis of TOS. Her other physical findings include restrictions in range of motion that have persisted despite physical therapy and a home exercise program. (Rowe PC, et al. Impaired range of motion of limbs and spine in chronic fatigue syndrome. J Pediatrics 2014;165:360-6).
8. Bicuspid aortic valve
Bicuspid aortic valve with normal ejection fraction was noted on echocardiography on 03/14/2016.
9. Chronic nausea:
She has chronic nausea of unclear etiology. Gallstones and chronic cholecystitis were identified in 2011, and she is status post cholecystectomy in 07/2011, but the nausea persists. She had tachygastria on electrogastrography (EGG) testing by Dr. Mark Noar in 2011. She will eat if she feels well, but has had a persistent lack of appetite since childhood. Nausea usually interferes with appetite further, usually helped by ondansetron and promethazine 12.5 mg as needed. She uses Miralax as needed for associated constipation.
10. Iron deficiency
Iron deficiency has been present on a chronic basis, unresponsive to oral iron, ultimately responding to IV iron infusions in the summer of 2017.
11. Cervical disc disease:
A cervical spine MRI on 03/30/2015 to investigate chronic neck pain showed a kyphotic angulation at C5-6 that was unchanged with neck flexion and resolved with the neck in extension, associated with a diffuse posterior disc bulge at C5-6. She has had cervical spine blocks with minimal improvement.
12. Prior Lyme disease:
She lives in a wooded area, and her dog had been treated for Lyme in the past. In 2010, the IgG western blot showed reactive bands at 18 kD and 41 kD, while the IgM western blot at the time was negative. She was thought to be seronegative for Lyme because of her low immunoglobulin levels. Treatment with IV ceftriaxone for presumed Lyme disease was initiated in October 2011 and continued until April 2013, under the supervision of Dr. E. Lucas. She was also treated with doxycycline 100 mg twice daily, rifampin, and Plaquenil. This was associated with a modest improvement that faded over time. She has been off antibiotics for 4 years.
Current function and prognosis:
On a complex regimen, without which she would be worse overall, Daffodil still reports profound fatigue every day, much worse on some days, and worse with prolonged standing. Her chronic fatigue is present despite sleeping 10-11 hours nightly and napping or reclining daily at 2PM for 1-2 hours. Sleep remains unrefreshing.
Her stamina is markedly reduced compared to her peers. She has persistent post-exertional worsening of her main symptoms after relatively modest exertion that is tolerated by healthy individuals. For example, she gets at least 2-3 days of increased fatigue following medical appointments. Minimal physical activity such as standing still for 10 minutes or walking for 10 minutes can make her symptoms worse. She has to pace herself on family vacations. Heat continues to provoke orthostatic symptoms.
On a good day, she can get up, get dressed, and go shopping for 30 minutes, but this will trigger worse symptoms for 48 hours. On a bad day, she is fatigued, nauseated, and generally feels unwell. She spends these days primarily reclining in the house, and is unable to help with child care activities with the adopted younger sister Ellie and her nephew Max on bad days.
She notes that her neck will start to hurt when she reaches her limit of fatigue. Hip pain bilaterally is present 2 times weekly, along with lower back pain, and knee pain, without swelling. Headaches are variable, in variable locations (bitemporal, entire head), but are usually present on at least 2 days weekly. She continues to avoid arms overhead postures. She gets some arm fatigue and arm heaviness with shampooing her hair, with associated general fatigue and lightheadedness. Lightheadedness is occurring every day to some extent. She has to plan her showering due to the amount of symptom provocation afterwards. Stools alternate between diarrhea and constipation, even within a 6 hour period, without apparent triggers. She has persistent reflux symptoms and heartburn despite treatment. There are no obvious triggers to the reflux.
She has persistent and pervasive mental fogginess and sub-optimal cognitive function. Due to her fatigue and cognitive symptoms, she had required homebound schooling in high school, and has been unable to advance to college education. She clearly does not have the energy or ability to read that would allow her to either attend college classes or to work on a full-time or part-time basis. I would estimate her general wellness score as 20-30/100 (with 100 meaning full health) over the last 5 years. Despite these symptoms, she maintains a mature attitude towards the challenges posed by her illness. She maintains positive social interactions with family and friends, and is not isolated or depressed.
Her longer-term prognosis is difficult to predict, as it is for many with chronic fatigue and POTS, let alone for someone with Daffodil’s multiple co-morbid conditions. She has had most of her symptoms continuously for 10 years. The factors that perpetuate CFS and POTS are not well understood, and she remains at risk for post-infectious deteriorations in function, and for worse function when allergic symptoms are more prominent. Despite thorough evaluation by specialists, she has a poorly understood carnitine deficiency, hypogammaglobulinemia, thoracic outlet syndrome, disordered gastrointestinal motility, and migraines. I have no doubt that her health status would deteriorate promptly if her current treatments were unavailable or no longer covered by her insurance company.
Daffodil has a level of disability equivalent to that in an analogous medical condition, mixed connective tissue disorder as described in Listing 14.06. That is, she has involvement of the cardiovascular, gastrointestinal, and musculoskeletal organ systems, two of the described constitutional symptoms (namely severe fatigue and malaise), as well as both marked limitations in activities of daily living and marked limitation in completing tasks in a timely manner due to deficiencies in concentration, persistence, or pace. She meets the ADA criteria for disability at this time, and will remain disabled for at least the next year, barring a major improvement or a dramatic response to a new medication. She has tried every therapy we have recommended, and would like nothing better than to be free of these symptoms and able to get on with her education and the rest of her life. I would hope to respond with as much poise and integrity if I were in a similar situation.
Peter C. Rowe, MD
Professor of Pediatrics
Director, Chronic Fatigue Clinic
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