Diagnosed on October
4th 2005
"Variant Late Infantile
Neuronal Ceroid Lipofuscinosis"
This is considered
part of the Batten Disease Family.
http://www.bdsra.org/
Medical
Story
BIRTH:
- Normal
unrelated parents of Indian descent & normal sibling sister,
age 9. Pregnancy/delivery normal/vaginal (4 hour labor,
mother age 34). He was fine at birth but was a bit gurgly
when he breathed. Also had severe reflex & slept for long
periods of time.
5 MONTHS:
- Admitted
to INOVA Fairfax Hospital for respiratory distress
associated w/ RSV. Was intubated w/ O2 at max setting, was
given 3 heart medications & other meds via central line-IV
(dopamine, epinephrine, norephrine). Initially they had to
give him his IV through his bone, because they couldn’t find
a vein. His heart slowed down to the point where he required
chest compressions. This happened twice in a 1 hour period.
He was given a 30% chance of survival by the PICU. He was
then flown to Children’s National Medical Center for
possible Extra-Corporal Membrane Oxygenation (ECMO), but
when he reached there, they took new x-rays & compared them
w/ the ones from before his 20 minute helicopter journey &
there was less white-out in the lungs, so they held off. He
never had to have this procedure, but remained intubated for
approximately 3 days. He developed hypertension due to
micro-embolization of the renal arteries. His brain CT scan
was unremarkable & after a total of 3 weeks, he was released
from the hospital on GI meds (Zantac, Reglan) & High Blood
Pressure meds (Captopril, Clonidine).
- He
continued breast feeding & later started eating solids. He
was also started on weekly Physical Therapy due to his
hospitalization & was slightly delayed on his milestones,
but his sister was also slightly delayed w/ her milestones
as a baby & it didn’t seem to be a problem.
7 MONTHS:
- He was
again hospitalized at Fairfax for retching & refluxing a
small amount of coffee ground emesis. It was determined
during this 5 day stay via endoscopy that he had a duodenal
ulcer & esophigitus & was treated w/ Carafate. He was also
weaned off of his Clonidine. A brain MRI was also done at
this time, due to delayed milestones & hypotonia, & it was
fine.
8 MONTHS:
- He was
diagnosed w/ Asthma.
11 MONTHS:
- He was
hospitalized at Fairfax for 3 weeks w/ double pneumonia.
After being given a PH probe test, it was determined that he
was silently refluxing (no longer visible) 157 times per
day. He was also given a swallow study & it was determined
that he had delayed swallowing & tended to pool. He also had
developed slight ptosis, so was given a Tinsilon test for
Myasthenia Gravis but tested negative. He was then operated
on & given Nissen Fundoplication surgery, as well as a
Gastrostomy tube (G-tube) & NPO from this point. At this
time, a rectus abdominus muscle was removed & sent to CNMC &
Buffalo, NY to be tested for mitochondrial disorder, but
came back negative. Another brain MRI was done, as well as
an EEG which were unremarkable.
15 MONTHS:
- He learned
to get into a sitting position from a lying position on his
own. One day, we found him in bed grey & unresponsive w/
mucous on his face. We suctioned out the mucous w/ a bulb
syringe & administered CPR. Although he was still
unconscious, he started slight breathing again. The
paramedics took him to Fairfax hospital & he had pulmonary
edema & was intubated. He was flown to Johns Hopkins
Hospital & after a sleep study & bronchoscopy, it was
determined that he had tracheo/laryngo malacia & obstructive
sleep apnea. He was extubated after a few days but remained
there for 3 weeks. He was sent home w/ a Bi-PAP machine w/
mask. During this hospitalization he was weaned off of his
Captopril & no longer had hypertension. He was also given an
EMG test that was also negative. He was mistakenly
administered a dose of Respiridol instead of Robinol & was
unresponsive for 48 hours. An EEG was given & it was normal.
17 MONTHS:
- I walked
away from him for a few minutes & when I came back I found
him unconscious. I performed CPR on him & although he was
still unconscious he started breathing again. The paramedics
took him to the hospital it was determined that he needed a
tracheostomy. The surgery was performed & he was sent home
after 3 weeks.
18 MONTHS:
- He started
pulling to stand & saying some words. He again went into a
quick respiratory arrest & was resuscitated at home. This
time when the paramedics took him to the hospital, a
bronchoscopy was done which revealed bronchmalacia as well,
therefore it was determined that he should be put on CPAP w/
Oxygen 24 hours a day. A Holter monitor was also done & was
fine (an EKG was done previously which was also fine).
28 MONTHS:
- He passed
a swallow study, which he had every 6 months until he was 3
& he was Okayed to have 1 Tablespoon of thickened purees
while on CPAP. Later, he was allowed to use a Passey Muir
Speaking Valve several times a day & weaned off of oxygen
after several months. He was on CPAP, pressure 7 (down from
10) when asleep w/ no O2, unless sick. He was evaluated by
NIH & they could not find anything. He has had an MR
Spectroscopy, CSF spinal tap, bone age, & many DNA
(mitochondrial, Rhett’s, Angelman's), metabolic, & genetic
blood (Ataxia Telangtasia, Acanthocytosis) & urine tests
which were negative. Dr. Kelley at Kennedy Krieger found him
to have Neutropenia, based on his lab reports.
3 YEARS:
- His EEG
showed brainwaves consistent w/ that of a 12 to 14 month
old, but they were trying to organize. No seizures were
detected. Also, his TIBC & UIBC were elevated. A sleep study
was done for Periodic Limb Myoclonus of Sleep, which was
negative. Around this age, he went to the ER for pneumonia.
3 ½ YEARS:
- He started
having apneic incidents. After ambu-bagging him, he regains
consciousness & has seizures in which his whole body shakes
for about a minute. Sometimes, he has large stools during
these episodes. The Neurologist isn’t concerned about the
seizures, as his previous EEGs were negative, the first
seizure was before he started Sinemet (for dystonia), & they
are always related to hypoxia.
4 YEARS:
- He
suddenly stopped breathing when he was awake. He did not
become conscious immediately after ambu-bagging as usual,
but he did start breathing after 1 hour. EMS/ER was not able
to get him to take his own breaths though he regained
consciousness, he didn’t take his own breaths until 2 hours
later, so he was put on a respirator. They concluded it was
brain-related. He is now mostly on a ventilator w/ 1-2
liters of O2. He does get off of it & stays on 2-3 liters of
O2 for up to 3 hour periods. Since then, he has continued to
have apneas, sometimes while on the vent – but these days he
comes back after ambu-bagging. He sometimes has a seizure
afterwards. He has turned both grey & blue.
- He started
retching. He had a swallow study, upper-GI, & PH-probe test.
He aspirated on the swallow study & therefore is NPO & the
upper-GI & PH probe were negative. The doctors are assuming
his Nissen surgery is loose, but not loose enough to warrant
surgery again. Meanwhile, he is on Prevacid.
5 YEARS/CURRENT:
- He is
severely globally developmentally delayed (more like a 6
month old). He started posturing 2 years ago & can no longer
get into a sitting position on his own nor pull to standing.
He also used to point to my face parts when I asked him, but
no longer does this. He no longer picks up toys nor holds
toys on his own. He is average in height & weight but 5th
percentile on head size (which has dropped). He also has
Broncheictisis. His developmental/neurological health seemed
to have started regressing gradually at age 2, but his
physical health & immunity improved at this time. His
hearing & eyesight had been evaluated & were normal, except
for intermittent exophoria in the right eye.
- In March
of 2005, we took him to Florida, courtesy of Make-a-Wish
Foundation, where he must have gotten a mucous plug & went
apneaic. He was hospitalized at Arnold Palmer Children’s &
then got tracheitus & pneumonia w/ fever. He was transferred
to INOVA Fairfax Hospital PICU (his regular hospital) via
air-ambulance & discharged after a total of 10 days (both
hospitals). At this time, he was seen at Fairfax by Dr.
Virginia Elgin’s (his Neurologist) new partner, Dr. William
Young for the first time. He asked me if he had ever had a
skin biopsy for Batten Disease. I said no. Dr. Elgin & Dr.
Amy Lewanda (his Geneticist) found out that there was a new
blood test to test for this at Massachusetts General
Hospital. In July we sent his sample there & in October we
were told he was positive for CLN6 mutation (Variant Late
Infantile Neuronal Ceroid Lipofuscinosis).
- In April
2005, he was taken to the ER for stomach distension & fever
that wouldn’t go down. He was discharged after 3 days w/ a
diagnosis of pneumonia & perhaps some stomach or respiratory
virus associated w/ diarrhea.
Written by Suneeta Rana,
mother (updated 10/20/05)
Contact: Suneeta mom
to Shiv at
suneeta@long&foster.com
Any
troubles with e-mails send to
amy76jo@yahoo.com
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