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Living with GSID Jessica

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Living with GSID Jessica Living with GSID Jessica Jessica, a 4-month-old baby girl, was admitted to the hospital through the ER after experiencing chronic diarrhea and continual weight loss over the past month. essica was a full-term revealed distention and facial to a buildup of luminal fluid healthy baby grimacing when pressure and bacteria, which causes a weighing 7 pounds. was administered to her fermentation process and Initially Jessica abdominal region. at 4 generation of gasses. the Jbreastfed, and did not months old Jessica’s weight digestive symptoms include: display any bouts with fell below normal for her age abdominal cramps, bloating, diarrhea or weight loss. and her skin was dry and excess gas production, Jessica’s mother switched to pallor. Blood test levels were vomiting and chronic formula after weeks of within normal limits, and diarrhea. as a result of this breastfeeding. once beginning stool cultures for bacteria deficiency, patients affected formula, Jessica started and parasites were negative. have difficulty gaining weight experiencing “watery” results from an endoscopy, and may become malnourished. diarrhea 4 to 5 times a day colonoscopy and histology the diagnosis of genetic with occasional solid stools. were unremarkable. sucrase-isomaltase even after experimenting deficiency can be challenging with lactose-free formulas Diagnosis because many of the and amino-based formula, Jessica’s symptoms led symptoms are non-specific. there was no relief from physicians to believe she Patients are more likely to be Jessica’s chronic diarrhea. was suffering from a diagnosed with more common Upon physical exam, the genetic sucrase-isomaltase causes of diarrhea such as doctors noted that all deficiency. Symptoms for toddler’s diarrhea, lactose Jessica’s developmental this genetic deficiency intolerance or celiac disease. milestones had been met. typically reveal themselves Jessica continues She was alert and crying after weaning a baby to be treated for genetic and still had a healthy and beginning formula sucrase-isomaltase deficiency appetite of 4 to 5 bottles per consumption. and is on the road to day. an abdominal exam a sucrase deficiency leads recovery. GSID 2 • Patient Profiles Knowledge is Power the first thing to realize is that knowledge is power. Just as you, the parent or caregiver, will feel better equipped to handle the diagnosis as you learn more, so will your child. the more information you and your child can learn, the better you and your child will feel about your family’s ability to deal with GSID. Life with GSID • 3 One Mother’s Story “at first my daughter was vomiting a couple times per week, then it got progressively worse over the next nine months to the point of her vomiting 5-10 times per day, 10-15 bowel movements (ranging from clay-like, fatty, or liquid diarrhea) per day, severe abdominal distention, pain to the point of her being unable to sleep for periods longer than 30 minutes at a time without waking up screaming and clutching her stomach…and an extremely decreased appetite (not eating for 2-3 days at a time) with gastroparesis. She was emaciated (her weight was down to 16lbs. at 2 years of age) with noted muscle wasting, and she was scheduled for a PeG tube insertion until we found out about GSID. She tested positive and we immediately began taking the necessary steps toward treatment. She is now up to 22lbs. and no longer has any of her previous symptoms!” –Mother of child diagnosed with GSID 4 • Patient Profiles Michael After 7 months of chronic explosive diarrhea, 19-month-old Michael was referred to a gastroenterologist. Adopted at 1 month old, Michael’s medical history was unknown. ichael has treated with antibiotics, a Diagnosis experienced probiotic supplement, and Doctors suggested that “watery” and pancreatic enzymes. these Michael receive an brown treatments have provided no esophagogastroduo- Mdiarrhea 4 to 20 times a day. relief or improvements for denoscopy (eGD) with a He has also suffered from him. He is currently not disaccharidase assay. weight loss, dehydration taking any medication. Blood this procedure confirmed and excoriated buttocks (red, test levels were within a diagnosis of genetic raw, broken down skin). normal limits, abdominal sucrase-isomaltase deficiency. two months ago he was diag- x-rays and ultrasound were Since being correctly diagnosed, nosed with gastroesophageal unremarkable. Stool study Michael and his family are reflux disease (GerD) and 2 revealed low pH, but no realizing great improvements weeks ago with toddler’s parasites. and Michae l has in his symptoms. Michael is diarrhea. Michael has been no history of prior surgeries. smiling again. GSID Life with GSID • 5 Sarah Sarah, a 9-year-old little girl, was brought to the doctor with abdominal pain, bloating, and excessive flatulence. She has been plagued with these symptoms for the past 4 years. arah described her noted that Sarah’s abdomen Diagnosis abdominal pain as was distended, and she after the examination, intermittent with the experienced tenderness in her Sarah’s doctor believed she pain increasing from abdominal regions when had been suffering from a Sdull to very sharp. She also pressed. Based on Sarah’s genetic sucrase-isomaltase experienced occasional age, her weight was just deficiency. Sarah was vomiting and foul smelling above the 25th percentile and given a sucrose intolerance diarrhea. after each meal, her height was just below the hydrogen breath test that her abdominal pain would 50th percentile. all her vital further aligned with the worsen and the pain lasted signs were all within normal doctor’s diagnosis. Sarah for several hours. as the day limits. Sarah’s mother said then underwent an upper progressed Sarah’s abdomen there is a family history of endoscopy with disacchari- would become more chronic abdominal pain on dase analysis to definitively distended, reaching a point both sides. they have tried confirm she had been suffering where she looked “pregnant” implementing a gluten free from genetic sucrase- in the evening. She often diet, a low foDMaP diet, and isomaltase deficiency. missed school because of her a lactose free diet. Unfortunately Sarah was treated by her health problem. these diets didn’t resolve any doctor and her symptoms are Upon examination, it was of Sarah’s symptoms. now dissipating. GSID 6 • Patient Profiles Problem-solve with Your Child Inevitably, your child will feel “different.” this disorder deprives your child of the privacy of blending in for most social situations. If he/she is feeling frustrated, angry, or sad, help him/her express those emotions. ask how he/she is feeling and always be available to offer a listening ear or a shoulder to cry on. Problem-solve with your child. Life with GSID • 7 Lifetime Battle rebecca, “I cannot remember the last time I didn’t have symptoms.” 8 • My Life with GSID Rebecca Rebecca, 36, has been plagued with chronic intermittent diarrhea, abdominal pain, and bloating since childhood. She cannot remember the last time she didn’t have symptoms. ebecca is a 36- such as: von Willebrand’s maternal grandmother both year-old white factor disease, esophagitis, have Crohn’s disease. female patient gastritis, food allergies (soy, She had a C-section for one who is married avocado, milk protein), of her births and gallbladder Rwith 2 children. Since the gastroesophageal reflux disease, surgery last year. age of 5, rebecca has chronic diarrhea, irritable suffered with “stomach bowel syndrome, lactose Diagnosis problems.” these problems intolerance, and hypertension. With her chronic diarrhea, have included chronic Unfortunately, no therapy abdominal pain, and bloating, intermittent diarrhea, prescribed for these conditions physicians performed an abdominal pain, and has provided any substantial abdominal exam. abdominal bloating. as a child, rebecca benefit. rebecca has noted bloating and increased would miss school and these that a strict vegetarian diet bowel sounds were noted absences continued into her including fish does reduce her during the exam. at 5 foot 4 adulthood with missed days symptoms. She is currently inches rebecca and weighing of work. over the years, taking hydrochlorothiazide, 94 lbs with a BMI of 16.23, rebecca has been hospitalized omeprazole, and a digestive rebecca is medically for dehydration and enzyme supplement. underweight. Her vitals are malnutrition. She noted that Providing a medical unremarkable and her blood when she is exhausted her history prior to her work and urine analysis symptoms are more severe. examination, rebecca stated were all with in normal rebecca has searched for a that she never experienced limits. an abdominal X-ray definitive diagnosis for her fevers, nausea, vomiting, and abdominal ultrasound “stomach problems.” She has or bloody, black, or pale revealed no structural visited a multitude of special- stools. When noting her abnormalities. ists who have diagnosed her family history, rebecca rebecca has been with a plethora of conditions revealed that her mother and diagnosed with GSID. GSID My Life with GSID • 9 Vince Vince is a 73-year-old male patient with early-stage Alzheimer’s. He lives in a nursing home where he is cared for by his daughter and nursing staff. Vince has chronic non-specific GI symptoms including diarrhea, constipation, excessive flatulence, and bloating. ince is a 73- Vince does not have overweight with blood year-old male symptoms like abdominal pressure 143/89 , a heart patient with pain, fever, nausea, vomiting, rate of 49, and BMI at 28. early-stage or bloody, black, pale, or the physician noted that Valzheimer’s. He is a widow mucous stools. He has been Vince suffers from an and has lived in a nursing diagnosed with colitis, excessive outward curvature home for the past 3 years irritable bowel syndrome, of the spine, he also slouches where he is cared for by his and gastroesophageal reflux and appears uncomfortable, daughter and nursing disease.
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