Pediatric Rare Disease Program | MediPocket USA
Pediatric Rare Disease Program — MediPocket USA

Your Child Deserves
the World's Best
Specialist. We Find Them.

Most children with rare or undiagnosed conditions spend years being passed between specialists who have never seen their condition before. The right pediatric expert — at the right US hospital — can change everything. MediPocket navigates that path for your family. From anywhere in the world. Free to start.

Boston Children's CHOP St. Jude Cincinnati NIH UDN
21+
Countries Served
Top 10
US Pediatric Hospitals
300M+
Children with Rare Disease
48h
Case Review Turnaround
0–8 yrs
Average Diagnostic DelayFor a child with a rare disease
0%
Begin in ChildhoodOf all rare diseases
0+
Identified Rare ConditionsMost pediatric specialists have never seen most of them
0%
Receive Wrong Diagnosis FirstTime on the wrong path is time lost
The Reality Most Families Already Know

What Parents of Children with
Rare Conditions Already Know

You have already heard "we don't know."
You have already heard "there is nothing more we can do."
You have already heard "this condition is too rare for us to have experience with."

You have not yet heard: "Let us connect you to the physician in the United States who has seen 200 children with exactly your child's condition."

That is what MediPocket does.
4–8
Years Average Diagnostic Delay
Every year matters. Early intervention determines outcomes for most pediatric rare diseases.
50%
Rare Diseases Begin in Childhood
The window for early intervention is narrow. Action taken now changes what is possible later.
7,000+
Identified Rare Conditions
Most pediatric specialists have never seen most of them. The right specialist sees your child's condition daily.
30%
Receive Wrong Diagnosis First
Time spent on the wrong diagnosis and the wrong treatment is time lost. We help find the right path.
Moment 01

"Our child has no diagnosis after years of testing. No one knows what this is."

Undiagnosed cases are one of our most important services. We connect directly to NIH Undiagnosed Diseases Network, whole genome sequencing programs, and multidisciplinary diagnostic teams with the highest solve rates in the world.

Moment 02

"We have a diagnosis. But our doctors say there is no treatment available here."

FDA-approved gene therapies now exist for SMA, sickle cell, hemophilia A and B, SCID, and more. Active clinical trials are open for DMD, Rett syndrome, Angelman, and dozens of other conditions. The answer may already exist.

Moment 03

"We know there are specialists and trials in the US. We don't know how to reach them."

That is exactly what MediPocket does. We identify the right specialist, navigate the records, coordinate the consultation, and if needed — the travel, visa, housing, and interpreter. Everything.

If you are in any of these moments — submit your child's case. Free. Today.

Submit Your Child's Case — Free
Conditions We Navigate

Pediatric Conditions We Specialise In

Every condition below has a US pediatric specialist who focuses on it. We connect your family to them — not to whoever is available, but to the physician who has seen your child's exact condition hundreds of times.

Neuromuscular Conditions
Duchenne Muscular Dystrophy (DMD)
X-linked progressive muscle wasting. Exon-skipping therapy, gene therapy, and steroid protocols active at CHOP and Cincinnati. MediPocket has directly matched DMD patients to US clinical trials.
Trials Active
Spinal Muscular Atrophy (SMA)
Motor neuron loss. Zolgensma (gene therapy) FDA-approved. Spinraza (ASO therapy) and Risdiplam oral therapy available. Among the most successfully treated rare pediatric conditions.
FDA Approved Therapy
Rett Syndrome
MECP2 gene mutation. Regression in girls. Active gene therapy trials at top US centers. Trofinetide (Daybue) FDA approved for Rett. Specialist behavioral and medical management available.
Gene Therapy Trials
Dravet Syndrome
Severe SCN1A genetic epilepsy. Specific drug protocols (Epidiolex, Fenfluramine, Stiripentol) and specialist trials at Boston Children's. Not manageable by general neurology.
Specialist Care Required
Friedreich's Ataxia
Progressive nerve and heart damage. Omaveloxolone (Skyclarys) now FDA approved. Gene therapy and cardiac management at top US centers. Specialist monitoring critical for cardiac outcomes.
FDA Approved
Becker Muscular Dystrophy
Slower-progressing dystrophin mutation. Active clinical trials for gene therapy. Specialist care and cardiac monitoring essential. Significant new therapy pipeline at CHOP and Cincinnati.
Trials Active
Metabolic & Enzyme Disorders
Gaucher Disease
Lysosomal storage disorder. Enzyme replacement therapy (ERT) and gene therapy now available. Excellent treatment outcomes when diagnosed and treated early at specialist centers.
ERT + Gene Therapy
Pompe Disease
Glycogen storage disorder. Enzyme replacement therapy — early treatment dramatically improves outcome and survival. Cipaglucosidase alfa (Pombiliti) available. Center selection critical.
ERT Available
Fabry Disease
Lysosomal storage, multi-organ involvement. Gene therapy now in advanced trials. ERT established treatment. Multi-organ monitoring essential — kidney, cardiac, neurological.
Gene Therapy Available
MPS (Mucopolysaccharidoses) I/II/III
Enzyme and gene therapy protocols rapidly advancing at Boston Children's and CHOP. Hematopoietic stem cell transplant for MPS-I. Intrathecal enzyme replacement for MPS-II.
Trials Active
Niemann-Pick Disease
Lipid metabolism disorder with brain and organ involvement. Specialist care and emerging therapies. Arimoclomol trials active. Specialist center essential for prognosis and management.
Specialist Care
Phenylketonuria (PKU)
Amino acid metabolism disorder. Pegvaliase (Palynziq) enzyme therapy available. BioMarin gene therapy in trials. Dietary management combined with enzyme therapy for optimal outcomes.
Managed Care Available
Chromosomal & Genetic Syndromes
Down Syndrome (Trisomy 21)
Multisystem — cardiac, cognitive, thyroid, gastrointestinal involvement. Multidisciplinary specialist team essential. Clinical trials for cognitive intervention active at specialized US centers.
Multidisciplinary
Angelman Syndrome
UBE3A gene. Seizures, intellectual disability, movement disorder. Gene therapy trials in active recruitment. Specialist behavioral and epilepsy management critical. Exciting trial pipeline.
Gene Therapy Trials
Fragile X Syndrome
Most common inherited intellectual disability. Specialist behavioral, pharmaceutical, and educational intervention. Research programs at Cincinnati Children's and Boston Children's.
Specialist Care
Prader-Willi Syndrome
Complex genomic imprinting syndrome. Multidisciplinary team essential — endocrinology, behavioral, nutritional, pulmonary. Growth hormone therapy standard of care.
MDT Care
Turner Syndrome
Chromosome X monosomy. Cardiac, hormonal, developmental, fertility management. Long-term specialist monitoring essential. Multidisciplinary care at specialized US centers.
Specialist Care
Williams Syndrome
7q11.23 deletion. Cardiac (supravalvular aortic stenosis), cognitive, developmental. Multidisciplinary pediatric care at specialist centers — cardiac intervention may be required.
MDT Care
Pediatric Rare Cancers & Tumor Conditions
Pediatric Brain Tumors (DIPG, Medulloblastoma, Ependymoma)
Highly specialized care at St. Jude and Boston Children's. ONC201 for H3K27M DIPG showing unprecedented results in trials. Specialist surgical and oncologic teams essential.
Active Trials
Neuroblastoma
Rare childhood cancer of the sympathetic nervous system. Immunotherapy (dinutuximab), targeted therapy, and MIBG therapy active at St. Jude. Staging and risk stratification critical.
Trials Active
Pediatric Leukemia (ALL / AML)
Most common childhood cancer. CAR-T cell therapy (Kymriah) FDA approved for relapsed ALL. Advanced protocols at St. Jude and CHOP achieve 90%+ cure rates for standard risk ALL.
CAR-T Available
Immune & Blood Disorders with Gene Therapy
SCID (Severe Combined Immune Deficiency)
Gene therapy (ADA-SCID — Strimvelis) now FDA approved. Curative potential when treated early. Hematopoietic stem cell transplant also available. Center selection critical for outcomes.
FDA Approved Curative
Sickle Cell Disease
Casgevy (Casgevy/Lyfgenia) gene therapy — FDA approved December 2023. Curative potential. Bone marrow transplant also available. Among the most transformative approvals in pediatric medicine.
FDA Approved 2023
Hemophilia A & B
Gene therapy for Hemophilia A (Roctavian) and Hemophilia B (Hemgenix) now FDA approved. One-time treatment with potential for curative outcomes. Specialist hemophilia center required.
Gene Therapy FDA Approved

Your Child Has No Diagnosis.

This is one of the situations we are most experienced with. Undiagnosed children are not turned away — they are our specialty. We connect directly to the programs with the highest solve rates in the world.

NIH Undiagnosed Diseases Network (UDN)
Whole genome and exome sequencing programs
Boston Children's Undiagnosed Disease Program
Multidisciplinary diagnostic tumor boards
Cincinnati Children's Undiagnosed Rare Disease program
40%
Of previously undiagnosed cases are solved when whole genome sequencing is interpreted by the right multidisciplinary team at a specialist center
"We have helped children who had been undiagnosed for years receive a confirmed diagnosis within weeks of connecting to the right US pediatric team."
— Dr. Priyanka, MediPocket
The Hospital Network

America's Finest
Pediatric Hospitals

Children travel from 21+ countries to reach these institutions. MediPocket gives your family direct, coordinated access — from your home, in days.

03 — Cincinnati, Ohio
Cincinnati Children's Hospital
Top-Ranked in 10+ Pediatric Specialties

Rare disease program sees undiagnosed patients from across the US and internationally. Leader in neuromuscular, metabolic, and inflammatory conditions. World-class research integration.

Rare + Undiagnosed Neuromuscular
04 — Houston, Texas
Texas Children's Hospital
Largest Children's Hospital in the US

Rare disease program serves families from 50+ countries. Strong Middle East and South Asia patient base. Internationally recognized rare and genetic disease programs.

International Leader Rare Disease
05 — Memphis, Tennessee
St. Jude Children's Research Hospital
World's Premier Pediatric Cancer Center

Unmatched in pediatric rare cancers and genetic tumor syndromes. Accepts international patients from 78 countries. Free treatment programs available. No child is turned away for inability to pay.

Pediatric Cancer CAR-T Brain Tumors
06 — Bethesda, Maryland
NIH Undiagnosed Diseases Network
Federal Research Program — Most Complex Cases

The gold standard for cases that have defeated every other center. Federal research program for the most complex undiagnosed cases in medicine. MediPocket navigates the referral pathway.

Undiagnosed Specialty Federal Research
07 — Columbus, Ohio
Nationwide Children's Hospital
One of the Largest Pediatric Research Centers

Genomics, rare disease and neuromuscular conditions leader. Extensive gene therapy research and clinical trial portfolio. Strong international referral pathway.

Genomics Neuromuscular
08 — Los Angeles, California
Children's Hospital Los Angeles
NCI-Designated · West Coast Leader

Pediatric oncology and rare disease leader on the West Coast. NCI-designated comprehensive cancer center. Strong rare disease and hematology programs.

Pediatric Oncology NCI-Designated
Every referral is matched to your child's exact condition — not generic. Not whoever is available. The physician who specialises in what your child has.
Find My Child's Expert
What We Do

What MediPocket Does
for Your Family

Five services. All coordinated. All built around your child.

We review your child's complete medical history, prior test results, and symptom history — then identify the right US pediatric specialist or diagnostic program with the best chance of finding the answer.

Medical record review and organization
Specialist matching by condition, not just specialty
NIH Undiagnosed Diseases Network referral
Whole genome sequencing program access
Multidisciplinary diagnostic team coordination
Plain language report of all recommended next steps
We have helped children who had been undiagnosed for years receive a confirmed diagnosis within weeks of connecting to the right US pediatric team.

Second opinions change the diagnosis or treatment plan in 1 in 3 complex pediatric cases. Before your child starts a major treatment — know it is the right one.

Matched to the specific US specialist for your child's exact condition
Medical records translated and formatted
Video consultation — from your home, in 48–72 hours
Written expert report — yours to keep and share
Post-consult navigation call from MediPocket team

The US runs more pediatric clinical trials than any country in the world. Many of the most promising gene therapies and targeted treatments exist only within trials. MediPocket has directly matched children with DMD and other genetic conditions to active US clinical trials.

Search across all NCI-registered and industry-sponsored pediatric trials
Match against your child's exact condition, mutation, and treatment history
Eligibility pre-screening coordination
Trial site contact and record submission
Travel coordination if trial requires in-person visits
MediPocket has directly matched children with Duchenne Muscular Dystrophy to active US clinical trials closed to international patients through standard channels.

Gene therapy has transformed outcomes for children with SMA, SCID, hemophilia, sickle cell, and more. Accessing these treatments — especially from outside the US — requires specialist navigation that most families cannot do alone.

FDA-Approved Therapies We Navigate
Zolgensma — SMA Casgevy — Sickle Cell Roctavian — Hemophilia A Hemgenix — Hemophilia B Luxturna — Rare Blindness ADA-SCID Therapy
Center selection for your child's specific gene therapy
Insurance and prior authorization support
Travel and accommodation coordination
Medical visa coordination for international families
Ongoing monitoring support after treatment

Traveling internationally with a sick child is one of the most demanding journeys a family can undertake. MediPocket manages every logistical detail — so you can focus entirely on your child.

Hospital appointment secured before travel begins
Medical visa letter coordinated from US hospital
Medical records translated and submitted
Family accommodation near the hospital arranged
On-the-ground support throughout the treatment stay
Interpreter coordination throughout
Ongoing case management after return home
US specialist follow-up via telehealth from home
The Difference

Navigating Alone vs.
With MediPocket

Navigating Alone
With MediPocket
Searching online for pediatric specialists — no way to know who is right for your child's specific condition
We identify the specific US pediatric specialist whose entire focus is your child's exact condition
Wait months for an appointment at a top US children's hospital — if they accept international referrals at all
Second opinion via video consultation within 48–72 hours of record submission
Medical records in your language — rejected or delayed by US hospital teams unfamiliar with your format
Records translated, formatted, and submitted correctly before your consultation
ClinicalTrials.gov is designed for researchers — impossible for parents to navigate correctly for their child's profile
We search every registered pediatric trial and match your child's exact condition, mutation, and treatment history
Traveling to the US with a sick child — visas, logistics, accommodation, interpreters — all on you
Visa letter, family housing, travel, interpreter, on-the-ground coordinator — all arranged before you land
Treatment ends at discharge — no continuity of care or specialist follow-up back home
Ongoing case management and US specialist telehealth follow-up after you return home
The Process

From Your First Message to
Your Child's Specialist

Four steps. One coordinator. Nothing left to you.

1
Free · No Commitment

Submit Your Child's Case

Tell us your child's diagnosis or symptoms, country, medical history. Free to submit. No commitment to anything. Takes 3 minutes.

2
24–48 Hours

Case Review & Navigation Report

Dr. Priyanka's team reviews your case and produces a personalized navigation report — matched centers, specialists, trials, and gene therapy options ranked in order.

3
48–72 Hours

Specialist Connection & Care Plan

We connect your family to the right specialist, hospital, or trial. Records prepared and submitted. You just show up — we have handled everything else.

4
Ongoing

Coordination & Ongoing Support

Travel, visa, accommodation, records, billing, trial support, and ongoing US specialist telehealth follow-up from home. We stay with your family.

Dr. Priyanka — Founder, MediPocket USA
Dr. Priyanka
Founder, MediPocket USA  ·  Physician  ·  Healthcare Navigator  ·  Patient Advocate
Physician-reviewed navigation report for every case
Children from 21+ countries navigated to US care
Gene therapy access — SMA, DMD, Sickle Cell
Clinical trial matching — all registered US pediatric trials
No generic referrals — every recommendation is specific

"Every child who comes through MediPocket's Pediatric Rare Disease Program receives a personal case review from our physician team. We do not send generic referrals. We read every record, review every test, and identify the specific physician, hospital, or trial that gives your child the best possible next step.

We have helped children from 21+ countries reach America's top pediatric hospitals — for second opinions, clinical trials, and treatments including gene therapy. Every one of those families deserved exactly this. So does yours."

Dr. Priyanka, Founder, MediPocket USA
Global Reach

Families We Have Helped
— 21+ Countries

Every family below was navigating a system that was not built for their child's condition. Until they found MediPocket.

Middle East & Gulf
Saudi Arabia
United Arab Emirates
Qatar
Kuwait
Bahrain
Jordan
South & Southeast Asia
India
Pakistan
Bangladesh
Philippines
Sri Lanka
Africa
Nigeria
Kenya
Ghana
Egypt
South Africa
Europe
United Kingdom
Germany
France
Netherlands
Italy
Americas & Other
Canada
Brazil
Colombia
Australia
New Zealand
Don't see your country? We navigate cases from anywhere in the world. Submit your child's case — we will tell you exactly what we can do.
Submit Your Case →
Submit Your Child's Case

Submit Your Child's Case.
Free. No Commitment.

Our physician team responds within 24 hours. We review every case personally and produce a navigation report specific to your child.

No diagnosis after years of testing — undiagnosed cases are our specialty and our most important service
Told there is no treatment available — gene therapies for SMA, sickle cell, hemophilia, and SCID are now FDA approved
Have a diagnosis but unsure it is correct — second opinions change plans in 1 in 3 complex pediatric cases
Seeking a clinical trial — we search all registered US pediatric trials and match against your child's exact profile
Cannot access US pediatric trials from your home country — MediPocket has navigated this for DMD families and others
Our Promise to Every Family
We never leave a family without a next step. Every case is reviewed by our physician team. Every family receives a response within 24 hours.
Submit Your Child's Case
Free case review. No commitment. Physician team responds within 24 hours.
HIPAA protected. Fully confidential. Your information is never shared. Physician team responds within 24 hours.
All rare conditions
Undiagnosed welcome
21+ countries served
Free initial review
Family Stories

Children Who Found Their Path.
Families Who Found Their Answer.

★★★★★

"Our Son Had DMD. We Were Told No Trials Were Open to International Patients. MediPocket Found One."

After three years of watching our son's condition progress, we had been told repeatedly that the US gene therapy trials were not accepting international patients. MediPocket reviewed our case and identified a CHOP trial that our son's mutation profile qualified him for. The coordinator navigated the records, pre-screening, and visa in three weeks. Our son is now enrolled. There are no words for what that means.

FK
Faisal K.
Father of DMD child · Riyadh, Saudi Arabia
★★★★★

"6 Years. No Diagnosis. Boston Children's Named It in 3 Weeks."

Six years of testing, six years of specialists telling us they didn't know. MediPocket reviewed all our records and identified Boston Children's Undiagnosed Disease Program as the right match. Three weeks after submission, our daughter had her first confirmed diagnosis. The relief of finally knowing — after six years of not knowing — is something I cannot put into words. We are now in treatment planning.

AS
Amira S.
Mother of 7-year-old undiagnosed patient · Riyadh, Saudi Arabia
★★★★★

"They Said Gene Therapy Wasn't Available in India. MediPocket Got Us to CHOP."

Our son was diagnosed with SMA Type 1. Every doctor we saw in India told us Zolgensma was not available to us. MediPocket contacted us within a day of our submission. They explained exactly what we needed, helped us with the records and visa letter, and coordinated with CHOP directly. Our son received Zolgensma at 8 months old. He is now 2 years old and hitting developmental milestones we were told he would never reach.

PK
Prashant K.
Father of SMA child · Mumbai, India
FAQ

What Parents
Ask Us Most

Yes. Undiagnosed cases are one of our most frequent and most important services. We connect directly to NIH Undiagnosed Diseases Network and whole genome sequencing programs that solve up to 40% of cases that have defeated every prior test. We have helped children who had been undiagnosed for years receive their first confirmed diagnosis within weeks of connecting to the right team.

Yes. Boston Children's sees children from 100+ countries. Texas Children's from 50+. St. Jude from 78 nations. We coordinate every step — visa letter from the US hospital, travel, housing near the hospital, translation, and medical records — so you arrive with everything already in place.

Not always. Gene therapies for SMA (Zolgensma), sickle cell (Casgevy/Lyfgenia), hemophilia A (Roctavian), hemophilia B (Hemgenix), SCID, and rare inherited blindness (Luxturna) are now FDA approved. Many more are in active trials for DMD, Rett syndrome, Angelman syndrome, and others. We check what applies to your child specifically — their condition, their mutation profile, their age, and their prior treatment history.

Most video consultations are scheduled within 48–72 hours of record submission. Urgent cases can often be prioritized. We tell you exact timing before you commit to anything — no surprises.

The initial case review is completely free. Navigation and coordination services are priced depending on the scope of services needed. We provide full cost transparency before any commitment — no hidden fees, no surprises. You always know exactly what you are paying for before you pay for anything.

We will tell you honestly and immediately — at no charge. We will also direct you to the best alternative resource we know of. We never leave a family without a next step. If we cannot be that next step, we will make sure you know exactly where else to turn.

Your Child's Path Starts Here

Your Child Deserves
the World's Best Answer.
We Help You Find It.

Submit your child's case today. Free. No commitment. Physician team responds within 24 hours. We review every case personally.

Because we know rare disease does not follow office hours.

All rare and genetic pediatric conditions
Undiagnosed cases welcome — our specialty
21+ countries served
Clinical trial matching included
Gene therapy access navigation
Free initial review — no payment to start