“Take him home and try to give him as normal of a life as possible.”
What is normal? For one extremely amazing four-year old little boy named Cohen, normal, means absolutely nothing can enter his body to nourish him. He survives solely on nutritional life support. It means being hospitalized for low grade fevers, extremely aggressive medications to combat infections, and being confined to an IV pole everyday.
Normal, means his time outdoors is limited, no swimming, or rough little boy games. It means, leaving the house with a heavy backpack which contains a large volume of infusing fluids. This is Cohen’s reality and he deserves a better normal. This brave little boy’s entire life has been full of invasive procedures and hospitalizations.
All attempts to feed and medicate him through his digestive system have failed, ending with violent vomiting and internal bleeding. His body can only tolerate ice chips, which must be vented back out of his stomach through a gastric tube. Due to lack of motility, even small amounts of water can cause hours of painful episodes where he screams, begging for help. An extremely large colon and intestines are another source of his stomach aches, requiring continuous venting of air pressure from his belly to reduce discomfort.
Two years ago, Cohen’s growth and development reached a critical point and his doctor placed a central line (permanent IV) in his chest. It is through this line that Cohen receives TPN (total parental nutrition). His daily caloric intake is measured through blood draws which ensure all of his nutritional needs are being met. This medical nutrition is administered through a daily 20 hour infusion. Without this life sustaining medication, Cohen could not survive. Cohen’s body is in a constant state of inflammation and any illness can send his immune system into extreme overdrive, shutting down organs in its path.
In 2016, he went into acute liver failure from an infection that progressed quickly, wreaking havoc on his little body. Therefore, even low grade fevers must be met with aggressive medications to prevent extreme inflammatory responses and sepsis. Since he becomes ill so quickly he must be transported by air, over 300 miles, to our treating hospital where he receives all of his medical care. Severe food/medicine allergies and intestinal failure are just a facet of Cohen’s illness.
His list of symptoms and diagnosis cross over into every system in his body. He suffers from pancytopenia (all blood systems low), indicating that something is destroying his cells, making blood transfusions and iron infusions necessary. Genetic sequencing revealed two additional diseases, Familial Mediterranean Fever (FMF) and Factor V Deficiency (bleeding disorder). Another diagnosis includes dysautonomia, which is an umbrella term used to describe a lack of communication in the autonomic nervous system. For Cohen, this means he has fatigue and issues with temperature regulation, making it challenging for him to be outside. It means he screams in pain when touching snow or sweats profusely in warm temperatures.
Other symptoms consist of cysts and nodules on his throat and vocal cords as well as malacia in his upper and lower airway, often requiring breathing treatments. Evasive health issues include, antibodies in his platelets, hands a feet turning blue, and despite continuous flow of intravenous nutrition his glucose levels drop to critical levels. Normal for Cohen means not having a plan for lack of a diagnosis. Our team of care givers includes gastroenterology, hematology, pulmonology, immunology, ENT and rheumatology.
Although, this is an amazing team of physicians, at one of the top children’s hospitals in the world, they don’t have a name for Cohen’s illness. His care is coordinated between all of these services and their resources, but they are limited by the boundaries of modern medicine. Without a diagnosis, we have no prognosis and no plan of care. Our best hope is to keep him as well as possible. For now we simply pray that the extreme measures used to nourish him, do not eventually destroy the same organs they are currently keeping alive.
Physicians have no more medical intervention to offer him. No more treatments. No better plan. We find ourselves with an unclear picture of Cohen’s future. Currently, our entire care team agrees that Cohen’s illness has yet to be identified by science. What does all of this mean for Cohen? We wait, hoping and praying that the science of tomorrow will arrive today. Unfortunately, until that day comes he will continue to be a member of the undiagnosed world, and remain on a journey for a diagnosis.