Fionn Smith

Hi my name is Elishia and i am fundraising for our son Fionn 10 who was diagnosed with a terminal muscle wasting disease that only effects boys and has a life expectancy of early twenties or sooner due to infections/ illnesses it’s like waiting on a knifes edge everyday this devastating disease is called Duchenne muscular Dystrophy. Fionn was diagnosed at 3 which was devastating to our whole family as we had just lost my brother Caolan Reilly (DMD) a few years before and now we have to go through the same loss.fionn has a rare mutation that has no treatment.  Here a some information about DMD. DMD is a genetic disease due to the mutation of the dystrophin gene, located on chromosome X. It is inherited as an X- linked recessive trait; however, approximately 30% of cases are due to new mutations.Mutations in the dystrophin gene result in diseases known as dystrophinopathies, which encompass Duchenne muscular dystrophy, Becker muscular dystrophy, and an intermediate form. Mutations result in a limited production of the dystrophin protein, which results in loss of the myofiber membrane integrity with repeated cycles of necrosis and regeneration. Fibrous connective tissue and fat progressively replace muscle leading to clinical features. The dystrophin gene is one of the largest genes in the human genome. Containing 79 exons of a coding sequence and 2.5 Mb of DNA, this gene codes for the protein dystrophin measuring 427 kDa. Most mutations are deletions and duplications, and this accounts for 70% to 80% of the mutations. Point mutations are seen in 20% to 30% of patients. Dystrophin is expressed in the striated and cardiac muscle, as well as the brain and the retina. The distribution in the brain is less than that in the muscle; however, this does explain some of the central nervous system manifestations of this disease. As DMD is inherited as an X-linked recessive manner, boys are more frequently affected than girls. The estimated incidence is 1 in 3600 male live-born infants. Some studies have estimated the prevalence of DMD as 2 per 10,000 in the United States. It is one of the most common and most severe congenital myopathies.children with DMD  Development in the first few years of life is typically normal, with milestones achieved at a slightly delayed if not normal rate. Growth velocity, however, is slower, leading to short stature. Mild hypotonia in an infant may be present, and poor head control in an infant may be an initial sign. Patients do not have atypical facies, but with the onset of facial muscle weakness, a transverse or horizontal sign may be seen in later childhood. Weakness and difficulty in ambulation in typically first noted between 2 and three years of life. This manifests as toe walking, difficulty running, climbing up stairs, and frequently falling. Weakness is more pronounced in proximal than distal muscles and the lower limb more than the upper limb. In ambulatory patients, an increased incidence of fractures is noted as a consequence of the frequent falls. Lumbar lordosis and scoliosis with muscle contractures occur. As a result of scoliosis, pulmonary function may be impaired, which can lead to pulmonary compromise. Contractures of the ankles, knees, hips, and elbows may be seen. Enlargement of the calves with wasting of the thigh muscles results in pseudohypertrophy of the calves, which is a classical feature. Aside from the calves, hypertrophy of the tongue and muscles of the forearm may be seen but are less classical. A waddling or Trendelenburg gait is common, and patients must use a wheelchair by the age of 12. Pharyngeal weakness can result in episodes of aspiration, nasal regurgitation of liquids, and a nasal quality of voice. Incontinence of urine and stools due to urethral and anal sphincter weakness is uncommon and, if present, is a late manifestation. As a family we are trying to raise enough money to purchase a wheelchair accessible vehicle to Make Fionn’s life a lot easier and as he is getting older and he will soon be in his wheelchair permanently he uses his wheelchair now for long distances and as a family of six the vehicle we have now is no long suitable for Fionn’s or our families long term needs. he is now having to be lifted in and out of the car by either myself or his dad which is not safe for him or us and it is impossible to go out as a whole family as there is no space in the boot for wheelchair and push chair. If you can find it in your hearts to give whatever is possible to our family .

Thank you

Elishia xx