Our hope is to help keep Lola as healthy and as happy for as long as we can and to ensure Lola has access to equipment and medical treatment as needed. For Kristi and Josh, the most important thing is that they are able to spend time making precious memories with Lola and their boys, Gerry and Ike.
“We can’t help everyone, but everyone can help someone”. All donations, no matter how big or small will be so graciously appreciated.
The aim of our Go Fund Me page is:
1. Is to allow Lola with the opportunity to participate in a clinical trial where one arises, without delay (most likely overseas).
2. To ensure Lola has access to medical aids and medical treatment as needed.
Lola’s parents, Kristi and Josh, just received medical confirmation from the United States that the two gene mutations responsible for Lola’s mitochondrial disease are so rare there are only two other children recorded on the dataset with the first mutation (SURF1 NM_003172.3 - variant c.351T>Gp.Tyr117*) and presently, Lola is the only child they know of who has the second mutation (NM_003172.3:c.312_321del10insAT). Kristi and Josh hope to access a Mitochondrial Disease clinical trial, most likely overseas to hopefully slow the progression of Lola’s condition until hopefully a cure can be found to save their little princess.
Although predominately her happy little self, Lola has already required numerous stays in hospital due to simple colds and illnesses. Lola has already needed to be medevaced from Canberra to Sydney once due to respiratory issues. Lola is also losing the ability to run around with her big brother Gerry (4) and her little brother Ike (18 months) due to progressive muscle weakness and ataxia. Lola’s younger brother is already bigger and faster than her!
Lola’s mum, a primary school teacher, has put her job on hold indefinitely to provide fulltime care for Lola. As Lola’s specialists are in Sydney, there is the additional stress of travel (with and without the boys), as well as physical and medical treatments
Leigh’s Disease (a type of Mitochondrial Disease) is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. It is characterized on MRI by visible necrotizing (dead or dying tissue) lesions on the brain, particularly in the midbrain and brainstem. The child often appears normal at birth but typically begins displaying symptoms within a few months to two years of age, although the timing may be much earlier or later. Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking. These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. Eventually, the child may also have heart, kidney, vision, and breathing complications.
There is no cure for Leigh’s Disease. Treatments generally involve variations of vitamin and supplement therapies, often in a “cocktail” combination, and are only partially effective. Various resource sites include the possible usage of: thiamine, coenzyme Q10, riboflavin, biotin, creatine, succinate, and idebenone. Experimental drugs, such as dichloroacetate (DCA) are also being tried in some clinics. In some cases, a special diet may be ordered and must be monitored by a dietitian knowledgeable in metabolic disorders.
- Anika Sinha
- Jessica Day
- Annette McGuiness
- sybil busby
- Carolyn Anderssen
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