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CHILD'S NAME Nina Christine Barr BIRTHDATE 9/16/96 GENDER Female AGE @ DIAGNOSIS Newborn PARENTS Tom & Kris Barr ADDRESS West Valley City, UT PHONE (801)963-0243 EMAIL Ooops69@aol.com DIAGNOSIS ACM3, occipital encephalocele, seizure disorder, vision & hearing impairment, reflux, and new things pop up all the time! LEVEL/MEASURE OF HERNIATION MAJOR!!!! 1/3 of her brain developed outside of her skull -- type 3 ACM is rare and mostly seen with encephaloceles DOCTORS All are at Primary Children's Medical Center in Salt Lake City, UT (except our Family Dr, who is in West Valley City, UT): Dr Douglas Brockmeyer, Nsg; Dr Joel Thompson, neurologist; Dr Kristin Carroll, Orthopedic; Dr Robert O. Hoffman, Opthomologist; Dr Ralph Garramone, Plastic surgeon; Dr Kathryn Allen, Family (primary care); CLINICS: Dr Daniel Jackson, Follow-up Nutrition Clinic; Dr Thresea Such-Neibar, CP clinic (for rehab) SURGERY DETAILS 9/19/96 dura graft (had no dura on the part of the brain outside the skull); 9/30/96 EVD placed (external ventricular drain) prior to shunting; 10/29/96 shunt placed; 11/4/96 shunt revision; 8/27/97 ACM decompression & cranial expansion, EVD placed; 9/10/97 bone graft over the encephalocele (BIG step!); 9/23/97 shunt placed; 9/25/97 second shunt placed. SYMPTOMS, PRE-SURGERY Swallowing problems (aspiration), vomiting if sitting up too long (longer than 2 minutes), very little activity or vocalization SYMPTOMS, POST-SURGERY She found her voice!!! increased activity level, no longer vomiting from being in upright position, not aspirating anymore MEDICATIONS Phenobarbitol for seizures, Zantac for reflux, Erythromycin for "GI motility" (helps counteract the constipating effect of the phenobarb) OTHER TREATMENTS\ Has early intervention through local service and through Utah School for the Deaf & Blind FAMILY Mom's mother had a stillborn girl in 1961 that also had an occipital encephalocele -- most likely had ACM as well OTHER COMMENTS I feel "fortunate" that because Nina had such an obvious and visible problem that the diagnosis of her Chiari was right there & we didn't have diagnosing problems. Submitted by mother, 3/98 CHILD'S NAME Mark Friedrich BIRTHDATE 6/3/89 GENDER Male AGE @ DIAGNOSIS Birth DIAGNOSIS Neurosurgical-- Myelomeningocele (Spina Bifida); Level approximately L1 (paralyzed below); Hydrocephalus (VP Shunt); ACM2; Hydromyelia (shunted); Tethered cord surgically severed. Gastrointestinal-- tructural defects affecting position & functioning of colon & rectum; Hiatal hernia; Oral hypersensitivity; Most nutrition received via Gastrostomy-tube; Metabolic disorder; unable to metabolize fatty acids; Requires low fat/high carbohydrate liquid diet. (Weight at 8 yrs old: 30-lbs) Orthopedic-- Severe Scoliosis; Both hips dislocated; Left leg contractures (Spasms pre-TC release); Significant paralysis in lower extremities; Wheelchair mobile Bowel & Bladder-- No sensation or control; Catheterize 5x daily Allergy-- Erythromycin (Pediazole); at risk for Latex sensitivity. Cognitive and physical development both delayed. LEVEL/MEASURE OF HERNIATION C4 PARENTS Ron and Georganne Friedrich ADDRESS Dallas, Texas, USA EMAIL r.friedrich@juno.com DOCTORS Children's Medical Center of Dallas (USA): Dr Fred Sklar, ped nsg, (214) 640-6660; nsg team members: Dr Swift, Dr Shapiro, Dr Bruce; Dr David Keljo, ped gastroenterologist, (214) 640-8000; Dr Ted Votteler, general pediatric surgery. Scottish Rite Hospital of Texas (Dallas) (214) 521-3168: Dr Stephen Richards, Ortho Surg; Dr Strand, et.al., urology; Dr Weakley, vision; Dr Adams, pediatrician, General Case Management SURGERY DETAILS 6/3/89 Birth by C-section near full-term, but Intrauterine Growth Retarded; Birth weight: 4-lbs, 4-oz (1.928 Kg) 6/4/89 Neurosurgery: close back; 6/10/89 Neurosurgery: First VP shunt; 7/9/89 Neurosurgery: First shunt revision; 8/10/89 Neurosurgery: Second [current] shunt revision. Effect: Some further loss of bladder function. 10/18/89 - MRI head - Dr Sklar Chiari-II Malformation "not severe"; 1/1/90 Hospitalized: bronchial pneumonia. Begin periodic ventilin treatment, by vapor, as needed (until about age 4). 3/3/90 Hernia repair. 10/23/90 Eye muscle surgery. Mid-90 to mid-91 weight gain: 2-lbs. 6/91 Diagnosed as unable to metabolize fatty acids. Revised diet, vomiting reduced from ten times per day to once a day. Still did not gain weight. Under care of gastroenterologist. Mid-91 to mid-92 weight gain: 1-lb. 5/92 Surgery for gastrostomy tube & nissen. Begin drip feed overnight 60cc/hr. Bolus feed daytime; maximum capacity 120cc. 6/92 G-tube replaced with Fr.24 button. Subsequent weight gain: 1-lb/mo. 9/92 TLSO Scoliosis vest from Scottish. 92-94 Annual CT scans at CMC shows non-shunted ventricle is slightly enlarged, but stable. 1/93 Nissen starting to slip; vomiting about 1/day again. 1/93-6/93 gain 1-lb. 6/93-1/94 lost 1-lb.... net for the year: 0 4/18/94 MRI spine shows hydromyelia (fluid pressure inside lower 2/3 of spinal cord). Symptoms: increasing contractures in lower extremities. 6/10/94 Surgery to shunt the spine. 10/25/94 MRI shows hydromyelia is only slightly reduced. 10/25/95 Urodynamics study at CMC; diag: low volume, low pressure. 1/2/96 Begin catheterizing (5x daily) & ditropen. 2/29/96 Began administering Cisapride (Propulsid) to assist digestion (addressing growth issues), but discontinued it after experience significant complications in bowel stability. 3/27/96 Follow up CT scan. 4/23/96 Follow up MRI. Chiari-II malformation appears to be more severe than we were told in 1989. Dr recommends decompression surgery and tethered cord release. 6/4/96 Discontinue night drip feed. Day feedings 6/day. 30-40% orally, remainder bolus. Stomach capacity increased from 4oz to 8oz during the next four months. 6/26/96 GI PH probe, reflux test. results: normal; discontinue Zantac. Sleep study at Scottish Rite Hospital - O2 normal. 5/20/97 Chiari decompression surgery including Posterior Fossa & laminectomy to C-4. Out of courtesy to ortho, Dr remounted the laminae of C-3 & C-4 on "struts" of bone (discarded laminae) for sake of possible future scoliosis correction while making room for brain tissue. The dura appeared to stretch out on its own, so Dr did not do a dural graft. Recovery was relatively quick; discharge on 5/23 (72 hrs). 5/27/97 Tethered Cord release. Partial laminectomy on first intact vertebra above the myelomeningocele, leaving bone as a courtesy to ortho. The plan was to simply sever the spinal cord, rather than a conventional release, to reduce the risk of retethering and improve drainage of the syrinx. Recovery was very quick. Mark needed no post-op pain relief. Drs required him to be immobile only for 24 hrs. He was discharged in 48 hrs. SYMPTOMS, PRE-SURGERY Oral hypersensitivity. Temperature elevates during the night. SYMPTOMS, POST-SURGERY Note: There was only one week between decompression and tethered cord release. The initial effects of these two surgeries were: Cessation of leg spasms; Increased bladder capacity - dryer diapers; Increased appetite. MEDICATIONS Ditropan 4cc/2xday via G-tube, for bladder function FAMILY No other chiari. Submitted 6/97 by dad, Ron CHILD'S NAME Shea Hammond BIRTHDATE 11/3/89 GENDER Male AGE @ DIAGNOSIS 3 DIAGNOSIS ACM 1 LEVEL/MEASURE OF HERNIATION C2 PARENTS Colleen & Jack Hammond ADDRESS PO Box 1217, Burlington, MA 01803 PHONE (781) 229-6182 EMAIL chalham@aol.com DOCTORS Dr Paul Chapman, nsg, Massachusetts General Hospital, Boston, MA USA; Dr Dan Doody, Dr Dan Ryan, pediatric surgeons, Massachusetts General Hospital, Boston, MA USA; Dr Julie Ingelfinger, Nephrologist, Massachusetts General Hospital, Boston,MA USA; Pediatric Gastoenterologist - Dr Esther Israel, Massachusetts General Hospital, Boston, MA USA; Dr William Gahl, Metabolic Disease Expert, National Institutes of Health, Bethesda, Maryland, USA; Dr Muriel Kaiser, Opthalmologist, National Institutes of Health, Bethesda, Maryland, USA SURGERY DETAILS 1/13/93 Surgery was very successul with no complications. SYMPTOMS, PRE-SURGERY Shea has a very complicated medical history. Shea was born full term, scheduled c-section, seven pound baby. My pregnancy was perfect. At two hours of age, he developed severe respiratory distress syndrome (RDS). Shea did not respond well to the ventilator. He was placed on an ECMO (extra corporeal membrane oxygenation) Machine for six days. ECMO is similar to a heart lung machine. Shea recuperated well from the ECMO and RDS. Shortly after arriving home after a two-week stay in the NICU, Shea seemed to be a very colicky baby. He developed many ear infections, thrush, and formula intolerances. At eight months old, a virus left him severely dehydrated. After our pediatrician said he was fine that I was just an overprotective mother, I brought him to the Mass. General emergency room begging for help. After being hospitalized for one month, Shea was diagnosed with cystinosis and Fanconi's Syndrome. Cystinosis is a rare genetic metabolic disease that causes cystine (a protein) to accumulate in the cells of the body and cause slow destruction of many of the organs. The kidneys are the first to be affected. Fanconi's Syndrome is part of cystinosis. In Fanconi's Syndrome, the kidney filtrationsystem treats all essential vitamins and minerals as waste causing severe electrolyte imbalance. Shea's gastrointestinal problems were severe at this point. At 10 months, Shea had a g-tube placed because of severe vomiting. We thought it was related to the electrolyte imbalance. At 13 months, he was still vomiting all of his meds and nutrition. He had a central intravenous line placed so we could bypass his GI tract. He was now being fed and medicated (he takes 13 medications 4 times a day for cystinosis) thru the intravenous line that was placed in his chest. Between age eight months and three years Shea had many ups and downs. Initially most were GI related. But by the time he was almost three, he started to complain of severe headaches and started to become very weak on his right side. Initially the doctors said it was behaviorally related to his cystinosis complications -- that he was tired of taking medicines, so he was rebelling. I knew that this was so untrue. Shea has always showed a love of life greater than any other human being I know, even when he is very ill in the hospital. He is a fighter! I knew his symptoms were not behavioral. I begged his doctors to do a CT scan. The CT scan was negative. I begged for an MRI because, by this time, Shea was slipping away. He was in constant pain, couldn't walk because of the dizziness, muscle weakness and nausea. I think I became a raving lunatic and ordered them to do an MRI. To pacify me and because it was two days before Christmas, they did the MRI. Well, the MRI showed the ACM. The neurosurgeon did not feel that Shea's symptoms were caused by the ACM. I spent hours in the medical library researching and showed him the many articles I found stating the various symptoms that were so similar to Shea's. The neurosurgeon was not receptive because he said my son was too young to have the ACM symptoms. I knew something had to be done. I knew the pain and horrible quality of life would cause Shea to give up his will to live. The neurosurgeon agreed to do the surgery. SYMPTOMS, POST-SURGERY Shea's symptoms post surgery were right-sided weakness and some speech delays and physical weakness. His primary symptom was severe GI problems. After about a year of PT and OT, Shea was able to walk again without problems, his headaches disappeared, the dizziness disappeared. However, his severe GI problems remain. He has been diagnosed with neuropathic intestinal pseudo-obstruction. At times, Shea has no GI motility and vomits constantly. However, lately his GI situation is improving. He is tolerating J-tube feedings. And has just started drinking formula by mouth. Socially, Shea is a wonderfully precocious eight-year old boy. He is in second grade in our local elementary school and is cognitively perfect. His learning skills are appropriate for his age. He is weaker than his peers, but this is probably due to his cystinosis. He plays little league, wants to be a professional basketball player when he grows up (Michael Jordan is his hero) and loves to play pool and bowl. MEDICATIONS Shea is on many medications for his cystinosis and GI problems; total parenteral nutrition 1200 cc day in central line; IV Cysteamine; IV Iron; IV Zantac; Epogen IV Push; prilosec rocaltrol; fluconazol; penicillin; cysteamine eye drops; IV potassium, magnesium, calcium, phosphorus, and other electrolyte supplements OTHER TREATMENTS Orthotics in his shoes for very flat feet FAMILY No other chiari. OTHER COMMENTS I consider Shea an ACM success story in many ways. The excruciating pain, dizziness and severe muscle weakness have all resolved since he was decompressed. Becuase Shea was just three or younger during most of this nightmare, he says he does not remember any of this time. He is very proud of his zipper scar on the back of is head. He thinks it is very cool. Submitted by mother, 3/98
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