Treatment Goals

TREATMENT WE ARE SEEKING FUNDING FOR IS “ASO THERAPY” ANTISENSE OLIGONUCLEOTIDE THERAPY Through N. Lorem.

Frances has a variant that is only reported in 6 others in the world. (1 in a billion+) Cases vary in age and most present with very severe symptoms. 25-30 cases total under the generalized term DHDDS that has 22 Variants listed.This Genetic Mutation was only studied in recent years, and in 2023 was listed as pathogenic in databases. Most of these cases are considered Denovo, (not inherited) This is correct in our case.

(THE FDA has so far approved ASO treatment for 10 genetic disorders) If not N. Lorem, we will have to seek out the place to do it. It is not considered gene therapy. It is a small string of DNA or RNA that can stick to mRNA decreasing a specific disease gene expression.

Meaning the goal of regular treatment for Frances is that she hopefully NOT decline and lose skills - the ability to talk, the ability to move, brain/body connection.

Whilst we hope for extreme shifts in Gene Therapy and advancements in that field.With an unknown time frame of this disease and the need to treat it as early as possible (Harder if it has progressed considerably) we are scrambling and most likely cannot make that in the next 1-2 years. Though we are compiling everything we do have to part with, when needed.

TREATMENT COST

Estimated $2 -5 Million

Biggest cost is actually administering and monitoring the treatment in a hospital. Once created the drug is actually hers for life, for free. The goal of the campaign is to support the research and development of these types of treatment for Frances but also to help the next person with this that seeks treatment.

Frances disease progression so far at almost 12 years old:

  • Hyperactivity

  • Ataxia

  • Hypotonia

  • Tremor

  • Migraines / Nausea.

  • Global Developmental delay

  • Speech Delay

  • Oppositional behavior

  • Gastrointestinal issues

  • Mild Scoliosis.

  • Myoclonic / Atopic Epilepsy at 9years and 9 months.

  • Photosensitivity.

  • Diagnosed Intellectual Disability 2022/23.

  • Diagnosed ADHD from 5 years.

Other aspects that are likely to develop over next 5-20 years

  • Parkinsonism

  • Psychiatric Disturbances

  • Hypokinetic/Hyperkinetic Movement Disorders

  • Cortical Tremor

  • Cognitive decline

  • Dementia

  • Progressive myoclonic epilepsy / Developmental Epileptic encephalopathy.