CONTINUITY CLINIC

INTERESTING CASES PRESENTATION

June 2, 2015

Table of Contents

I. Ilocos Training and Regional Medical Center.............................................................................. 2

II. Cagayan Valley Medical Center .................................................................................................... 4
III. Baguio General Hospital and Medical Center .............................................................................. 7
IV. Jose B. Lingad Memorial Regional Hospital............................................................................... 14
V. General Emilio Aguinaldo Memorial Hospital ........................................................................... 16

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 Republic of the Philippines
DEPARTMENT OF HEALTH
FIELD OPERATIONS
CENTER FOR HEALTH DEVELOPMENT NO. 1
ILOCOS TRAINING AND REGIONAL MEDICAL CENTER
City of San Fernando, La Union

PHIC Accredited Healthcare Provider Mother-Baby Friendly Hospital A No Smoking Facility

Tel: (072) 607-6418/6422 Telefax: (072) 607-6419 itrmc2010@yahoo.com

CERTIFIED ISO 9001:2008 September 2013

I. Ilocos Training and Regional Medical Center

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Continuity Clinic Case Presentation
Newborn Screening Continuity Clinic
II. Cagayan Valley Medical Center
June 2015

I. Introduction:

The case we will be presenting for Region 2 (Cagayan Valley Medical Center) is a case of Congenital
Adreneal Hyperplasia and was born prematurely at 35-36 weeks. We have chosen the case for
presentation because we currently have 2 premature patients who are with Congenital Adrenal
Hyperplasia seen in the clinic and we are interested regarding management of such.

II. Case Presentation

Patient Data:

Name: Liam Rueme Ramirez

B-date: 06/15/2013
Address: Brgy Quiling Roxas Isabela
Age of Gestation 36 weeks
Birth Weight: 2000 grams
Hospital of Birth: Cagayan Valley Medical Center
Name of Specialist: Dr. Wilson Cua
Diagnosis: Congenital Adrenal Hyperplasia- Simple Virilizing
Date of Diagnosis: 08/05/2013
Date of Treatment: 08/05/2013

The patient was born on June 15, 2013 at Cagayan Valley Medical Center and confirmed positive of
Congenital Adrenal Hyperplasia- Simple Virilizing upon confirmatory testing. The initial sample was
collected on June 17, 2013 and was received at NSC on June 20, 2013. Initial blood sample result was
released on June 22, 2013 and was relayed to Nurse Meriley Languian of Region 2. The patients case
was referred to Dr. Wilson Cua through phone by the attending physician.

Initial sample collection result

Test Date of Laboratory Result Normal Range Remarks
Collection
17- OHP 06/20/2013 Manila 87.80 nmol/L <50 High
(initial) Endocrine
Laboratory
Confirmatory Results
Test Date of Laboratory Result Normal Range Remarks
Collection
17-OHP Manila 14.00 nmol/L <9.1 High
Endocrine
06/24/13 Laboratory
Na Cagayan 146.00 137- 145 Slightly
Valley Medical mmol/L Elevated
K Center 4.8 mmol/L 3.5-5.1 Normal
RBS 5.16 mmol/L 4.1-5.90 Normal

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Laboratory Monitoring

Test Date of Laboratory Result Normal Range Remarks

Collection
17- OHP 07/31/2013 Manila 42.00 nmol/L <9.1 High
Endocrine
Laboratory

Diagnosis

Based on the results of confirmatory tests and upon telephone referral with Dr. Wilson Cua, the
patient was diagnosed with Congenital Adrenal Hyperplasia- Simple Virilizing. Treatment was started
on August 5, 2013 with Prednisone 2 ml TID. Patient had monthly check up at CVMC OPD and was
referred to Dr. Cua by the resident physician. Last check-up was November 25, 2013.

Recall history

Upon recall of the NSC, it was found out that the father had stopped medicating the patient since 6
months of age. The father was advised regarding importance of laboratory test, medication intake
and consultation with specialist.

The patient was endorsed to NBS Continuity Clinic on July 10, 2014. Upon recall, father believes that
his child is already well, had stopped medicating and does not want to bring back child for check up.
The father was consistently reminded of importance of follow-up, helped to seek financial assistance
from DOH and was able to be seen at the clinic October 16, 2014. Laboratory tests were done and
management are as follows

III. Management and Outcome:

Patient was recalled 10/16/2014 1 year and 4 mos old with the following anthropometrics and
laboratories:

Wt: 7.6 kg
Ht: 73 cm
HC: 43 cm
CC: 45 cm
BMI: 14.26
BSA: 0.392

Test Date of Laboratory Result Normal Range Remarks

Collection
17-OHP Manila 5.0 nmol/L <9.1 Normal
Endocrine
10/16/2014 Laboratory
Na Cagayan 136.9 mmol/L 137- 145 Slightly Low
K Valley Medical 4.85 mmol/L 3.5-5.1 Normal
RBS Center 2.57 mmol/L 4.1-5.90 Normal

Patient was advised to take Prednisone 10mg/5m at 1ml TID and to come back after 6 mos.

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Patient visited the NBS clinic after 6 mos May 2, 2015: he is already 1 year and 10 mos old. Patient
had stopped medication for 2 mos.

Anthropometrics:

Wt: 9.1 kg
Ht: 83 cm
HC: 46 cm
CC: 48 cm
BMI: 13.2
BSA: 0.4580

Test Date of Laboratory Result Normal Range Remarks

Collection
17-OHP Manila 3.0 nmol/L <9.1 Normal
Endocrine
05/02/2015 Laboratory
Na Cagayan 139.8 mmol/L 137- 145 Normal
K Valley Medical 4.70 mmol/L 3.5-5.1 Normal
RBS Center 7.83 mmol/L 4.1-5.90 High

Patient was given Prednisone 0.6ml BID and for repeat 17-OHP, Na, K & RBS after 6 mos.

IV. Discussion

Patient has been noted to have poor compliance to medication regimen however despite of this;
laboratory tests such as 17-OHP, Na, K, and RBS have revealed normal results. Patient also had no
complains of diarrhea, vomiting or any signs of adrenal crisis even withholding medication for a span
of time. Does this child still need to continue medicating?

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 III. Baguio General Hospital and Medical Center
Newborn Screening Continuity Clinic
Cordillera Administrative Region

Quarterly Case Presentation

June 2, 2015

I. Introduction

G6PD Deficiency is the most common metabolic disorder in the Philippines. Although
prevalence of this disorder is high, it is considered the least severe of all the metabolic
disorders in the newborn screening. The most common problem associated with G6PD
Deficiency is hemolytic anemia and prevention of hemolytic crisis is the priority.

We will be presenting to you the case of mother Gen, who is a mother of two confirmed
G6PD Deficient babies. Her first baby died due to suspected hemolytic crisis/kernicterus.
This is interesting and a good example of how important the Newborn Screening
Continuity Clinic in the long term care and counseling of confirmed positive patients in
the Newborn Screening.

II. Case Presentation

Gen is from Davao who is bound to many beliefs.

Gen finished a vocational course and is now a full time housekeeper.

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Got married to Jessie and gave birth to Xyrille on November 1, 2012.

Xyrille was normal at birth and NBS was done after 24 hours.

NBS result was received after 1 month and was screened positive with G6PD Deficiency.

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Confirmatory test was done after 2 months in AUFMC and was confirmed positive with
G6PD Deficiency. Counseling was done.

Mother gen believes bitter gourd/ampalaya is good even though she was told to avoid
ampalaya during counseling. She extracts ampalaya leaves and gives 5 ml of ampalaya
juice daily for 3 months to baby Xyrille.

At 5 months old, baby Xyrille had yellowish skin, yellowish sclera, tea-colored urine and
enlarged abdomen with ultrasound result of hepatomegaly and splenomegaly so was
admitted. Blood transfusion was done.

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Baby Xyrille was again admitted at 7 months due to the same complaints and diagnosis.
After recurrent hospitalizations with the same diagnosis, Xyrille eventually died.

On July 23, 2014, mother Gen gave birth to a healthy baby girl named Jessica. NBS was
done immediately after 24 hours. After 3 weeks, the NBS result was released by NBS
Continuity Clinic (releasing of NBS results in BGHMC is done by Continuity Clinic as
agreed upon by the Dept. of Pediatrics) and was found out to be screened positive with
G6PD Deficiency. Upon releasing, counseling was done. This is where the story of Xyrille
came out. It was found out that mother Gen is again giving ampalaya juice to Jessica. As
part of daily counseling to the parents of screened positive G6PD Deficient babies, the
NBS Continuity Clinic team ordered to stop giving ampalaya juice immediately.

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 Confirmatory test was done on November 19, 2014 and Jessica was confirmed positive
with G6PD Deficiency.

III. Management and Outcome

Jessica is currently having her monthly check up at Under Five Clinic, Baguio General
Hospital. She is healthy and growing well with no signs of Hemolytic anemia/crisis.

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Gen participated in the recently concluded G6PD Deficiency Parent Forum conducted by
DOH-CAR Office on May 12-13, 2015 at Chalet Hotel, Baguio City and is one of the
trained mothers who will do voluntary activities in the different barangay health stations
to perform Newborn Screening advocacy and peer education.

Mother Gen is now the leader of G6PD Deficiency Support Group composed of 18
members/parents with G6PD Deficient babies from Baguio City and La Trinidad,
Benguet.

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IV. Discussion

Newborn screening saves babies from mental retardation and death. In the case of Gen,
it shows how important the newborn screening and the role of continuity clinic in saving
Jessicas life. Traditionally, Filipinos give ampalaya juice to newborn babies and that this
belief is dangerous to babies with G6PD Deficiency. It is now part of counseling in
continuity clinic and support group to emphasize the danger of giving ampalaya juice to
the babies confirmed positive with G6PD deficiency.

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 Jose B. Lingad Memorial Regional Hospital
Newborn Screening Continuity Clinic - Region III
City of San Fernando, Pampanga

IV. Jose B. Lingad Memorial Regional Hospital

Introduction

The NSCC3 would like to present a case of Congenital Adrenal Hyperplasia salt wasting type. The
case is of interest because he is a good candidate for weaning off of hydrocortisone; hence could be
a false positive case of CAH.

Case

Patient JS was born pre-term, 28 weeks AOG (04/12/2014) via CS secondary to maternal pre-
eclampsia in labor to a 39 y/o G5P0 (0040). Initial sample was collected at 11 days of life
(4/23/2014) and the filter card was received at NSC-CL on the 13th day of life (4/25/2014). The result
of initial blood sample was (17HP 77.0 nmol/L NV 50). Confirmatory test was done at Manila
Endocrine Laboratory on 18th day of life (4/30/2014) which yielded a result of 90nmol (<9.1), Na
145.20 (134- 148), K 4.25 (3.40-5.30) and RBS 90.38 (65-105. The baby was admitted at NICU due to
prematurity and episode of cyanosis few hours after birth. He was being managed as a case of
neonatal sepsis and eventually referred to Pediatric Endocrinologist due to the positive screening.
Upon repeat testing of Na on 5/1/2014, NA levels was low at 129 mmol/L. He was then diagnosed
with CAH salt wasting type and treatment was started on 5/1/2014 with Hydrocortisone IV, stress
dose (50mg/BSA/day). He showed marked improvement clinically since the start of treatment.
Repeat test after 2 weeks of treatment still revealed elevated 17-ohp (65nmol/L). The patient was
discharged 05/26/2014 with take home medications of HAA tab 15mg/BSA/day BID, NACL tab
500mg/pptab, 1 pptab BID and florinef 0.1mg/tab OD once available.

Management and outcome

The patient was first seen at the continuity clinic at 6 weeks of life on 05/31/2014. Patient also
presented Retinopathy of Prematurity and underwent corrective surgery at PGH last august 2014.

The patient was lost to follow-up for about 3 months, hence the hydrocortisone was not adjusted
.Upon follow-up at 5 months of age, his 17 OHP (0.34 mmol/L) level was noted to be decreased
despite underdosage of hydrocortisone.

The plan then was to gradually taper-off hydrocortisone with close monitoring of 17-ohp
level and close follow-up to watch out for symptoms of adrenal suppression/crisis. The patient did
follow-up monthly but failed to have the 17-ohp done. There was an instance when the mother
advertently discontinued hydrocortisone, but the patient had symptoms of vomiting, hence
medication was resumed. Until recently (5/2/15), 17 ohp wa still noted to be decreased (at
hydrocortisone 3.5mg/bsa/day), with normal level of Na, K, & cortisol. Patient is currently being

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tapered off with hydrocortisone, the latest dose at 1 mg OD (2.5mg/nbsa/day) while NACL tablet
was discontinued. The patient is for follow up on June 02 2015 with request for Na and K.

At present the patient is already one year old and one month was last seen on May 19 2015
at the clinic with the following anthropometrics: weight 8.9 kgs, Head circumference 42 cm, Length
73 cm and BSA of .4. The patient is noted to be underweight with growth stunting. He also has
developmental delays such as: Unable to sit/stand without support; rolls over but doesnt crawl;
language wise- he babbles & cannot utter a word yet.

The mother was also advised to seek consult with a developmental pediatrician.

Points of Discusion:

1. Why false positive?

The patient was pre-term with neonatal sepsis, hence was high risk to have elevated
level of 17-ohp upon screening.

2. Why was the patient treated with hydrocortisone if he was false positive?
The decision to treat was upon the judgment of the subspecialist (pediatric
endocrinologist). He presented with increased 17 ohp via NBS, which futher
increased upon confirmatory testing. He also presented with hyponatremia which
eventually resolved upon treatment of hydrocortisone. Another consideration was
the age of the patient upon diagnosis (3rd week), at which time true CAH patients
would present with adrenal crisis.
3. Is there a confirmatory test for false positive patients?

Among patients, who are not symptomatic & not yet treated with hydrocortisone, we
can do ACTH stimulation test. There is a certain level which will tell us if the patient is
CAH (clasiccal or nonclassical) or not.

For this patient, he was symptomatic at the time of NBS & confirmatory testing,
hencewas treat at once. For now we can closely monitor the patient while tapering off
hydrocortisone.

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V. General Emilio Aguinaldo Memorial Hospital

NEWBORN SCREENING CONTINUITY CLINIC -CALABARZON

Gen. Emilio Aguinaldo Memorial Hospital
Ground Floor Korea Philippines Friendship Project Hospital Building
Brgy. Luciano Trece Martires City Cavite
Email Add: geamh@newbornscreening.ph
Contact number: 09989647684

CONTINUITY CLINIC PRESENTATION OF INTERESTING CASES

INTRODUCTION:

The clinic chose to present Baby Boy Dollete, a confirmed case of Galactosemia.

We choose to present to this case not because of the medical condition of the baby
but due to following reasons:

1. To share with the NBSCC team our challenges during our recall of this patient
2. To create uniform/ legal actions/plans and strategies for future scenarios.
3. To gather opinions/ critiques/ suggestions regarding the actions we have taken in
dealing with the case.

CASE

Baby Boy Dollete, was born last June 06, 2014 in Laguna. Upon consultation with Dr.
Jayne De Vera (PGH Metabollic Fellow) last July 11, 2014 the patient was diagnosed with
Galactosemia. Patient was started on soy feeding last June 26, 2014 upon initial screening.
Patient was advised to continue Lactose free diet. The baby was then on regular monthly
GAL monitoring and follow up consultation with UP- PGH OPD Metabolic Clinic.

Last Sept. 01, 2015 the metabolic team informed the clinic thru NSC-SL follow up
Nurse that the parents requested the Metabolic Fellows if they can have monthly
consultation in Laguna due to proximity. Request was granted by the metabolic team
provided that they will have the consultation with them every three months and will continue
monthly laboratory monitoring.

They were able consult with a pediatrician in Laguna last Sept 15, 2014 and October
28, 2015. And was again able to have consultation with the UP Metabolic Fellows last
November 14, 2015 advised to continue monthly laboratory monitoring and follow up on Feb
13, 2015.

Monthly lab monitoring for December and January was not done due to personal
reasons of the parents. During that time we explained to them the importance of the said
monitoring but they failed to comply even if laboratory test was already free of charge c/o
NSC-SL.

The baby was not able to have consultation with the metabolic team last February
13, 2015 because the baby was admitted in Laguna due to UTI. It was then coordinated with
the metabolic team and was rescheduled March 13, 2015. Gal monitoring was facilitated.

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 Last March 03, 2015 we reminded the parents regarding the next follow up schedule
in PGH. According to them they will have the consultation on March 07, 2015 with
Dra Aragon, an endocrinologist in Laguna. They were apparently referred by Dr.
Tapia a Pediatrician in Laguna. We explained to them that endo and metabolic are
two different specializations and strongly advised them to continue follow-up with the
UP-PGH Metabolic team.

Last March 5, 2015 the parents informed us via sms that they already have
consultation with Dra. Aragon and according to them Dra Aragon allowed them to have their
consultation with her and was requesting for the laboratory results.

The events were relayed with the NSC-SL and UP Metabolic team. The metabolic
fellows said thru Dr. Rodriguez of NSC-SL that the patient must be seen first in the clinic on
March 13, 2015. At first, the parents agreed that they will have consultation on March 13 in
PGH but they were not able to do so because of time/schedule constraint.

Consistent follow up was done until March 18, 2015, the following series of text
messages was received from the mother of the baby revealing their true reasons for not
following up in UP Metabolic Clinic:

Kc mam kapag nagpupunta din po kmi dun sa pgh paulit ulit lang nmn po ang
cnsabi cmula nung una naming punta at last iisa lang po cnsabi nila
ang mga tumitingin naman po din ung mga ojt po nila
ok din nmn po ngaun condition ni erwel kaya kung pupunta din po kmi dun di din po
mga doctor mkakausap nmin ung mga ojt lng po saka monthly naman po kame
magpapacheck up kay dra aragon. Pasencia npo.

Our dilemma was relayed with NSC-SL and Metabolic team. The metabolic team
gave the following options: 1.) Asian Hospital under Dr. Estrada, a nearby facility under a
private pediatrician (the genetics fellow will coordinate with the pediatrician the needed
medical plan and 2). PGH OPD Metabolic clinic.

Details of clinic / clinic schedule were provided to the parents and instructions given
to secure appointment with Dr. Estrada. The parents are now considering having
consultation with Dr. Estrada.

Consistent follow up was done emphasizing importance of consultation and lab

monitoring. Last April 30, 2015, the parents requested our clinic to set an appointment with
Dra. Estrada. We were able to converse with Dra. Estradas secretary and the patient was
scheduled for consultation on May 15, 2015 3pm. Details given to parents as well as the
expected professional fee of Dra. Estrada which costs Php **00.00. We also informed them
that Dr. Estrada is willing to give them discounted PF (Accdg. To metabolic fellows).

Everything was already set until May 11, 2015 when the parents informed the clinic
regarding the cancellation of appointment with Dra. Estrada because of financial constraint.

Again health teaching was done and they were also advised that they can have the
consultation in PGH if financial matters was a problem but still they insisted to have
consultation with Dra. Aragon.

The parents are now not responding to our calls and inquiry.

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Summary of Gal Levels

DATE GAL METABOLITE GALT ENZYME

June 9, 2014 1.6 2+
June 17, 2014 2.1 1+
July 01, 2014 0.5 2+
August 11, 2014 0.1 2+
September 11, 2014 0.2 2+
October 11, 2014 0.2 1+
November 11, 2014 0.1 1+
February 28, 2015 0.1 3+
March 21, 2015 0.1 1+
April 30, 2015 0.20 1+

MANAGEMENT AND OUTCOME

Continuous follow up/ health teaching provided.

Once communication is again established, we will continue to convince them to have

the consultation with metabolic specialists.

Will continue to remind them of the gal monitoring and will assist them with their
needs and concerns. As of now, their monthly lab monitoring is free of charge c/o NSC-SL.

We will refer the patient to DOH-RO for home visit if still without communication and
confirmation of follow up consultation.

DISCUSSION

1. Is metabolic patient allowed to have consultation with endocrinologists?

2. If still they will insist to have consultation with endocrinologists, what further
action needs to be done on our end?
3. May we have the script of explanation for the parents?

Thank you very much.

JHONALYN BANTIGUE, RN
Follow up Nurse

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