Jeren and Jaxon Journey-The Scheff boys deal with many medical issues with the main effects of three missing genes on the X chromosome: pyriform aperture stenosis, laryngomalacia, ocular albinism,apnea, seizures. Jeren JeromeLee was born to Justin and Jen (Wiebersick) Scheff and big brother Jaxon. When Jeren was born he was placed in the Sanford NICU for the first month of his life for abnormal and difficulty breathing. Fighting for his life, his momma and daddy refused to give up. After many airway scopes, surgeries, and genetic testing, Jeren was diagnosed with a congenital airway disorder called nasal pyriform aperture stenosis. It is an unusual disorder that causes nasal airway obstructions in newborns. The nasal pyriform aperture is narrowed due to bony overgrowth of the nasal process of the maxilla. Patients with PAS often present shortly after birth with difficulty moving air through their nose. Since infants breathe only through their nose until they are about 4 months old, they are unable to compensate by breathing through their mouths and need surgery to open up the airway. Along with the small airway in his nasal cavity, Jeren was also found to have another airway disorder, called laryngmalacia. At birth, Jeren was also diagnosed with ocular albinism in his eyes. His vision is 20/1000 which is considered blind. Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision and causes blindness. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Before birth, Jeren was diagnosed with an enlarge L kidney and ureter. Time and observation is the treatment for this. Each time an ultrasound has been done, the results show the enlargement lessening. Nothing will be done unless the progress stops. During his journey, the stress of not being able to breathe caused a seizure disorder. MRI showed abnormal brain activity in the L temporal lobe. The seizures would only happen when he was on the verge of falling asleep and if he was sucking on a bottle or paci. He took Keppra for almost nine months and has since been weaned off with the diagnosis being called a myoclonic episode due to breathing stress. He has recently started medical night terrors in his sleep. The Dr. feels they are caused by stress from all the medical interventions and struggles in Jeren’s medical past. One of the treatments for nasal stenosis is the use of steroids. Since Jeren has constantly used them since birth his body will no longer produce the cortisol steroid on its own. This deficiency can be fixed by remaining off of prednisone for a big time period. When Jeren has a surgery or runs a high fever, we have to give him a dose of cortisol to help his body produce. The longest Jeren has been off of prednisone in the last year is three months. He currently has to take it again to keep the tissues in his nose from swelling. Recently, his pediatrician became concerned about the formation of the roof of his mouth. It is angled, almost like a triangle, and is pushing up on the floor of the nasal cavity. She is concerned that his teeth will not continue to come in the right place. We will be referred to an orthodontist who specializes in cleft palates to see if there is help. After 7 airway surgeries, in out of the hospital about every three weeks since birth and many other procedures (stents, trumpets), our family was hopeful that Jeren would be able to breathe on his own. Unfortunately, this has not happened. We have a medical nursery set up at home: oxygen, oxcipitor, and nasal suctioning machine. Jeren cannot go to daycare because of germs and the time it takes to care for him. We have a full time day nurse and a full time night nurse is just starting. He receives physical and occupational therapy twice weekly to help develop fine motor and large motor skills that the lack of vision may cause developmental delays. Our goal is to give Jeren the best breathing life possible. We strive to learn everything we can about this genetic disorder by reading research and contacting others for out of the box thinking to help him. At this point, a research article has been writing about our family and published in the American Journal of Medical Genetics. Our family has spoken about our struggles and shared the genetic testing with Mary Elizabeth Parker, PT, PhD, NCS, PCS who is a Medical Liaison with U.R. She is helping make contacts for us that could possibly open more breathing avenues. Nothing is out of the question. We have traveled to Mayo in Rochester, Minnesota for another opinion. Jeren was placed in the digestive airway clinic. Unfortunately, the team did not feel they could do anything to help Jeren. The sleep study data shows 13 sleep disturbances during the six hours we were there. The concern isn’t oxygen dropping but Jeren not getting enough deep sleep during the night. The ENT surgeon did not feel his airway can be fixed any more than it already has been. Their recommendation was the placement of a trach. This would ensure safety and breathing. After consulting with our local ENT, he does not agree with the recommendation. A trach would be an open pathway to the lungs. Jeren’s lungs are strong and healthy. By-passing the nose to breathe would begin infections in the lungs and not fix his nose. He feels like we need to keep stenting until Jeren can breathe on his own and only looking at a trach in the event of a life threatening emergency. Because of Jeren’s continuous struggles to breathe, we felt like we needed to look wider for help. A researcher and ENT from Ann Arbor, Michigan has read his file and feels like Jeren should have a bigger surgery to remove more bone and tissues to open up his airway. He feels like stenting can be counterproductive because it forms scar tissue that eventually will take up room in the nasal cavity. A major surgery would help meet our goal of life long breathing. He also feels like this is not pyriform aperture stenosis but a midline stenosis. The difference being, Jeren’s airway is small from the opening of his nostril all the way to the back of his throat. Looking at all three of these opinions have us very confused to say the least. Jeren’s records have now been sent to CHOP, one of the leading children’s hospitals specializing in stenosis to see what the team of ENT thinks. We are in the process of waiting for their opinion. We are looking for someone’s opinion to match so we know what to do to help our baby. It’s heart retching to watch your little one struggle. This is exactly what we have been doing from January 11, 2013 to now, March 3, 2014. The guilt at times is enough to eat you alive. The only thing keeping us moving forward is our Faith- knowing that God must have a huge plan for Jeren. If the decision is made to travel out of Sioux Falls to give Jeren the possibility of the breath of life….then, we will do whatever we need to do to get there. It’s tough raising two little boys with medical needs and working fulltime too. When the sick time runs out and you become unpaid, you have no choice but to ask others for support. Each time, something big has happened our village steps in and surrounds our family with love. We are so lucky. Jeren’s Journey puts life into perspective for us. We are constantly reminded of what is really important in life. Thank you for being part of our journey! We will never give up searching for the right procedure to give Jeren the healthy breathing life he deserves. We know as parents and advocates for our children- this has become part of journey. We also know that a Journey is not ending but taking little Jeren baby steps towards a healthy breathing life. Thank you in advance for your prayers and support. Financial contributions can be made to: Jeren’s Journey Montrose Security State Bank 107 W Main St. Montrose, SD 57048
(605) 363-5104 Or Jeren’s Journey on Gofundme.com
We are currently living in Philadelphia while Jeren is in outpatient care at CHOP. Our mailing address: Jennifer and Justin Scheff
3925 Chestnut Street #13
Philadelphia, PA 19104
