Samantha was born with bilateral hip dysplasia and placed in a Pavlik Harness by her ortho who had treated her older sister’s club feet as an infant. As an infant she developed Failure to thrive by 6 months old and had GI issues which were not understood. When Sammi was 29 months old and struggling with worsening failure to thrive she was found to have Gastro esophageal (silent) reflux disease after night time aspiration with a collapsed right lung middle lobe. She also was found about the same time to have Vesicuoureteral kidney reflux with recurrent UTI’s. By 32 months old she had a nasal gastric feeding tube inserted due to her worsening GI issues and poor weight gain. The tests left her doctors confused and unsure of what her underlying disorder was and this has been a persistent frustration for all of us over the years.
She continued to have difficulty tolerating NG feeds and was receiving feeding therapy who suggested G-J tube due to ongoing micro aspirations of reflux at night and suggested possible intestinal dysmotility. Sammi began to have fractures of her left arm (three) and leg just before she turned 3 years old and had a dexa scan which found she is osteoporotic and also has hyper mobile joints (she shares this with her brother and sister as well). She and her brother M. and sister, A., are now diagnosed as having an unknown syndrome which has caused an Ehlers Danlos like metabolic disorder as well as immune and autoimmune issues and a variety of other health problems.
Over time Samantha was found to have Asthma as well as recurrent mild aspirations due to her reflux and several episodes of pneumonia as well. In 2002 she had a severe setback with a GI virus and was diagnosed with a Neurogenic bowel and we were told she has chronic intestinal pseudo obstruction as well as small bowel dysmotility, colonic dysmotility in 2002.
Over the next four years she was found repeatedly to have inflammatory bowel disease of an unknown type and finally in 2006 she was found to have a large portion of her colon non functional without motility. In 2006 she was also found to have immune deficiency as well as autoimmune disease with a very high anti nuclear antibody and was suspected of possibly having Systemic Lupus. Her poor intestinal motility led to over growth infections in her small intestine which further caused her systemic autoimmune disease to flare and worsen with fevers, oral and nasal ulcers, headaches, back and joint pain and worsening intestinal function.
History of multiple fractures, Fx left forearm and left tibia and fibula 5/2000, Fx left forearm 10/2000, Fx left forearm 4/2004, born with bilateral hip dysphasia, subluxed left hip.
In August, of 2000 Sammi had a permanent feeding G-J PEG inserted. She continued over the years to have issues tolerating feedings with persisting vomiting, reflux, small bowel bacterial overgrowth and feeding issues.
In January 2002 she became acutely ill , with what we thought was “24hour” GI virus. However, she was unable to tolerate feeds or fluids via her G-J feeding tube. She was hospitalized 10 times that year and spent 56 difficult days in the hospital. In March 2002 Sammi had surgery to have a central IV catheter, port a cath was placed to feed her intravenously on a feeding called TPN or total Parenteral nutrition- IV food. She was eventually weaned after that very difficult year of nausea and vomiting and feeling awful back onto full strength tube feeds over course of several months by late January, 2003.
In June 2003 she again began experiencing increasing vomiting and complaints of pain, nausea, x-ray revealed dilated ascending colon. For the next two years we struggled to continue to tube feed and fight persisting small intestine infections and by late 2005 she began to have new problems with oral ulcers and a rash, headaches and joint pains as well as extreme fatigue and ill feeling.
She was found by a new wonderful immunologist in 2006 to have immune deficiency and autoimmune disease. Sammi was started on IVIG every three weeks by an IV started at home. IVIG is blood immune factors generously donated by thousands of blood donors to help people like Sammi who cannot fight infection themselves. In August 2007 Samantha’s small intestine infections were worsening out of control, her intestinal motility too poor and autoimmune disease flaring . She was taken off tube feedings and all food by mouth as eating food makes her intestine worse and stop moving. She was once again put on IV feeds of TPN through a central IV catheter, she was also started on daily IV antibiotics and fluids to help control her illness.
In June of 2008 Sammi had an ileostomy surgery to divert her small intestine to a pouch on her tummy and not use the colon in an attempt to help her worsening intestinal motility and decrease the intestinal infections. Unfortunately Sammi’s autoimmune disease and body under the stress of surgery has progressively worsened since then. She has been in the hospital four times over the last year at one point for over a month with complications of her now life threatening autoimmune disease.
Her illness is being further explored by some of the finest immunologists in the world who are working very hard to keep her as medically stable as possible until we can determine the best medical course of action. We expect to have final genetic tests for Hemophagocytic Lymphohistiocytosis and Immunodysregulation Polyendocrinopathy, Enteropathy X linked like syndrome within the next 6 weeks. We know her disease is either a primary or a secondary form of HLH from recent bone marrow biopsy she went through on June 2 at our Children’s Hospital. What we don’t know is if this is the root of her problem or a complication of an IPEX like disease.
Her primary immunologist feels Sammi desperately needs a life saving Bone Marrow transplant. We are waiting and praying and hoping for God’s divine guidance to help her physicians choose the best path for our precious girl. Sammi’s medications and illness cause her to have multiple unpleasant symptoms (moon face, tremors, and fatigue for starters from the IV steroids she depends on). Sammi lives with daily pain, has a hard time walking due to the arthritic like issues in her back and legs and misses being able to eat food. She is a very brave, loving and courageous young lady who loves her sibs and friends deeply. She is home tutored by our community school due to her severe illness.
Thank you for your thoughts and prayers for our precious girl.
