ryan malaescu

Help us fund treatment and research

for kids with SPG47

Ryan`s story

Ryan was born on September 16th 2021. We had a normal pregnancy and delivery.

His first 6 months were normal then we started to notice that he was missing his milestones and he was diagnosed with hypotonia (low muscle tone). At this point we started to research the possible causes.

After many other tests that came back normal, last year we found out through WES (Whole Exome Sequencing) Geneting testing that Ryan was born with a rare genetic disease called AP4 Hereditary Spastic Paraplegia type 47.

It was devastating to find out that it is a neurodevelopmental and slowly progressive neurological disorder. The small amount of patients that learn to walk, tend to lose that ability within a few months or a few years. Speech development is significantly impaired and many affected individuals remain nonverbal.

We will do anything we can to offer Ryan the best quality of life possible. He is a bundle of joy, we love him so much and we are happy to be his parents.

To save Ryan and other children with the same condition, the only hope is gene therapy. As of now more research and trials are needed in order for children with this disorder to be approved. Due to the degenerative nature of the disease they need to receive treatment as soon as possible.

If you want to help fund treatment and research or you want to donate towards intensive therapy, travel, and other medical expenses please find links below.

Thank you for all your love and support.

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About us

We are a family originally from Romania

that moved to the USA at the end of 2017.

We decided to start a family and in September of 2021 when Ryan was born.

Therapies and treatments

Ryan participates in traditional physical, speech and occupational therapy.

In addition to his other therapies, Ryan goes to swimming lessons once a week.

In January we just finished a DMI Intensive Program for

2 weeks where we could see a lot of improvement

in his mobility and speech. This program stimulates their brain.

We are on the waiting list to start an intensive therapy program at

NAPA Center in Los Angeles.

What is SPG 47 ?

SPG 47 is caused by mutations in the AP4B1. It is an

autosomal recessive disorder, which means that both parents have contributed a defective recessive gene to the child.

The result is that the patient is unable to correctly produce a protein required for proper functioning of the AP-4 Adaptor Complex.

The area of highest expression is central motor neurons

located in the hippocampus region of the brain.

Patients afflicted with any of the AP-4 HSP genetic

disorders generally present with symptoms that

include global developmental delay, microcephaly,

seizures, malformation of the brain,

and hypotonia (low-muscle tone).

Links to more information