Young, Sick and Invisible

My illness has shaped me,
But it does not define me.

Guest Post: 'Jenny's Story.'

I’m Jenny and I share what life is like with two rare diseases on Life’s a Polyp ( I manage to maintain working full time as a medical social worker. I’ve survived divorce and medical trauma that should have killed me on more than one occasion.

I have two rare diseases - Familial Adenomatous Polyposis (FAP) and Short Bowel Syndrome (SBS). FAP is a rare, hereditary gene mutation that causes an excess of 100s to 1000s of precancerous colon polyps to develop that will turn cancerous if the colon is not removed. There are many complications and additional associated cancers with FAP that require management and monitoring. SBS is a result of colon and/or small intestine removal that results in excessive diarrhea causing malnutrition and malabsorption of necessary nutrients and electrolytes.

I was diagnosed with FAP around the age of 8 and by age 9, my precancerous polyps were turning cancerous. I had my colon removed at 9, suffered complications resulting in part of my small intestine being removed at age 10. This additional intestinal removal resulted in developing SBS. Due to my young age, I don’t recall very much of life prior to diagnosis and as a coping mechanism to the medical trauma I would endure, my mind has blocked out most of my memories from childhood.

I’ve been fortunate to remain able to work full time as a medical social worker. I enjoy being able to help others with illness navigate their adjustment to life with illness. I previously worked with a hospice and was privileged to provide counseling and support to those with terminal illness and their families. Currently, I provide counseling, resources, and education to dialysis patients and their families. My work and employer is very accommodating to my medical needs. I am able to take days off when necessary for my own medical well-being due to flare ups, intestinal blockages, or even hospitalizations. I work hard to maintain my employment and my dedication is acknowledged and appreciated by my supportive employer. I have worked previous jobs such as home health and hospice that require a lot of traveling that caused too much stress on my body. Although I enjoyed these fields, my body won’t allow such physical demands.

Due to FAP being a genetic disease, I lived with awareness of FAP as my mother and grandfather also had this disease but I didn’t live in fear prior to diagnosis – it was just part of our lives, I had no inkling it could directly affect me to such a degree as diagnosis. It wasn’t until I started having regular, severe stomach pains that I was able to obtain a diagnosis of FAP. My parents had an HMO insurance plan that required a referral from a primary care physician in order to be seen by a specialist. The PCP I had viewed me as simply a “whiny child” for complaining of stomach pains and refused to refer me to a GI specialist. Once my parents were finally able to secure a referral, my GI doctor completed a family history and with the discovery of FAP family history immediately scheduled me for a colonoscopy and genetic testing. The stomach pains I had been having were due to a pre-ulcerous condition caused by stress but it led to the FAP diagnosis. My parents switched to a PPO plan as soon as they were able to allow for better medical coverage and the benefit of no longer requiring a PCP referral for specialist care. This would prove to be lifesaving as my polyps were soon turning cancerous requiring colon removal that wouldn’t have been discovered if it hadn’t been for seeing a knowledgeable GI specialist.

As a child, I relied on my parents and doctor for medical information but upon entering college I became more interested in learning more about FAP and would then start my own medical searches online, participating in FAP studies as available, and questioning my doctor for more information. Now, I hungrily read my medical charts for further understanding about my body and health.

When I have a flare, it’s an SBS flare meaning that my usual 15-20 bowel movements a day increases dramatically to using the restroom up to every 2-5 minutes lasting potentially for hours at a time. I manage most days without anti-diarrhea medication as it slows my GI tract down to a bothersome point but I do take medication when I will be particularly active to allow for increased activity with less frequent restroom requirements. Due to my frequent bowel movements of typically watery stool, I utilize skin ointment to help combat raw skin.

This is particularly difficult during a flare when I am unable to stand or walk and even lying down is difficult. I manage best by sitting up with reduced movement until the flare passes. During a flare, my skin becomes extremely raw and painful. There have been times when I am in tears and screaming from the pain when my body forces me to use the restroom once again against my will. A flare for me sometimes has triggers and other times seem completely random. My flares can be triggered by lack of sleep and food intake primarily.

Throughout my illness, I have taken a variety of medications – some that I’m no longer required to take while others will be lifelong. During a particularly difficult time, I was required to take upwards of 30 pills a day just in a failing attempt to maintain my electrolytes. Now, I require lifelong iron and B12 supplements with iron infusions to maintain iron and B12 levels as well as a PPI, such as Prilosec, to manage intestinal ulcers. I am presently experimenting with Vitamin D and Folate due to low levels but it’s currently undetermined if these will be regularly required. Due to risk of macular degeneration, I take a Lutein supplement to decrease my risk. As a result of adhesions from multiple surgeries, I have chronic nausea and pain when eating so I take two anti-nausea medications, anti-spasm medication, and utilize essential oils to manage my nausea and pain. I went through several anti-nausea medications in an attempt to deter my nausea and the present combination of Phenergan, Compazine, and Peppermint Oil doesn’t cure the nausea but best manages it.

When dealing with FAP, just like any rare disease, it is vital to be under the care of knowledgeable and supportive doctors for management and treatment of the disease. Due to the medical trauma I endured, I do best with understanding doctors that truly listen to my needs and fears and will take my mental well-being into account not just my physical well-being. Ongoing monitoring is necessary for proper care of FAP due to the associated complications and cancer risks. With SBS, it is easy to become malnourished and dehydrated requiring additional medical care to maintain electrolytes and nutrients. The patient and doctors need to be on their toes both for symptom management and detection.

My rare diseases have completely shaped my life from my education, career, relationships, and living choices. I chose medical social work so that I could help individuals cope with illness. I have a very close relationship with both of my parents, bonds that have been strengthened not only out of love but also necessity for caregiving and support as well as a shared chronic illness with my mother. I decided where to attend school, find employment, and even my own home based on my illness and the emotional and caregiving support I require from my parents. I decided to forgo children – not because that’s what I wanted but because it was the best decision for my health and I didn’t want to risk a child inheriting my disease.

I wouldn’t say that my disease has stopped me from doing things in my life; it has definitely shaped my decisions and I’m happy with the choices I’ve made. My disease affects every life decision I’ve made and although I could have made different decisions – such as to attend college out of state – my life would have been further complicated due to my health. I believe I’ve made the best life decisions I could with my health to allow for the most stability and comfort. There are times I choose not to attend particular activities or events, sometimes due to inconvenience and others due to discomfort or lack of restroom access.

I’ve been very fortunate to maintain friendships and romantic relationships with others who are understanding of the limitations of my disease and accept me for who I am. I have never been rejected by a friend or romantic partner based on my health or lack thereof.

I focus on taking one day at a time to survive and do my best to manage. My ultimate goal in life is remain as independent as possible and gain the most financial security that is possible. This goal drives me to work and maintain working as long as possible for as many years necessary. My disease has also given me the gift of understanding and relating to others with chronic illness.

My hope for the future is that one day research will lead us to being able to suppress the gene mutation that causes FAP so that the polyps will not develop and thereby prevent not only cancer but also the need for surgery and further cancer treatments.

- Medicines described in this blog are prescribed to this individual by their Doctor. Always consult your Doctor about what is best for your needs before taking any medication -

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