Acute intermittent porphyria (AIP): how physiotherapy saved mobility during a rare disease

By Leticia Profeta, Physiotherapist

Some stories remind us why we chose physiotherapy: to be present in the most critical moments, when each day can make the difference between recovering or losing a function forever. Today I share the case of a 23-year-old young man who faced a rare disease and how physiotherapy was essential for his complete recovery.

The medical mystery: when everyday is precious

I received a young patient who was progressively losing movement, day after day. Each day was gold - literally - because with every 24 hours that passed, he lost more motor function.

The doctors were in a race against time, trying to discover the diagnosis whilst observing the accelerated neurological deterioration. The situation became so critical that the patient needed to be:

• Subjected to intensive diagnostic investigation

• Admitted to ICU

• Intubated for respiratory support

Hospital physiotherapy: keeping hope alive

Even in ICU, intubated, the patient continued receiving daily hospital physiotherapy. Many question: "Why physiotherapy if we don't even know the diagnosis?"

The answer is simple:

"We cannot wait for the diagnosis to preserve function. Lost time may be irreversible."

During this critical period, we focused on:

• Maintaining joint range of motion

• Preventing contractures

• Passive neurological stimulation

• Therapeutic positioning

• Prevention of pressure ulcers

• Maintaining respiratory capacity

• Maintaining circulatory system

The rare diagnosis: acute intermittent porphyria

Finally they discovered: Acute Intermittent Porphyria (AIP) - a rare disease that affects the nervous system and explains why the diagnosis was so challenging.

Why did it take so long?

• Extremely rare disease - few doctors have experience

• Initially non-specific neurological symptoms

• Lack of knowledge about the condition

The miracle of medication and physiotherapy

A combination of factors saved this young man:

1. Quick Access to Medication

By luck, an NGO supporting Porphyria disease had the specific medication in stock. Normally this medication:

• Comes from abroad

• Is extremely expensive

• Takes months to arrive

2. Continuous Intensive Physiotherapy

We maintained daily physiotherapy even during medication treatment, accelerating neurological recovery.

Extraordinary result: a full life

Today, years later, this patient:

• ✅ Rides motorcycles

• ✅ Drives normally

• ✅ Married his girlfriend from that time

• ✅ They had beautiful twins

• ✅ Recovered 100% of motor function

Differences between neurological cases

This case illustrates the diversity of neurological physiotherapy:

Neuro-Oncological vs. Neuro-Clinical

Neuro-Oncological	Neuro-Clinical
Brain tumours	Metabolic diseases
More reserved prognosis	Potential for total recovery
Focus on quality of life	Focus on complete recovery

Fundamental lessons

1. Time is Neuron

In neurology, every hour counts. Early physiotherapy can be the difference between total recovery and permanent sequelae.

2. Never Give Up Before Diagnosis

Even without knowing the cause, we must preserve function whilst investigating.

3. Rare Diseases Exist

Neurological physiotherapy must be prepared for uncommon conditions.

4. Hope + Science = Surprising Results

The combination of adequate medical treatment and intensive physiotherapy can generate extraordinary results.

When to suspect rare neurological conditions?

Seek specialist help if you observe:

• Progressive loss of movements

• Unexplainable neurological symptoms

• Rapid deterioration of motor function

• Abdominal pain + neurological symptoms

Message of hope

This case teaches us that even in the most desperate situations, with rare diagnoses and uncertain prognoses, neurological physiotherapy can make the difference between a limited life and a full life.

Are you facing unexplainable neurological symptoms? Don't wait - every day counts.

About the Author

Leticia Profeta is a physiotherapist with experience in complex cases and rare diseases. She practises in Ireland, dedicating herself to providing hope and recovery through evidence-based physiotherapy.

Need specialist neurological assessment? Book your consultation today.

This article is based on real clinical experience and is for educational purposes. Always consult qualified professionals for your specific case.