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Ages 0-4 (age at diagnosis)

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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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