Introduction

The goal of our website is to help others be in touch and informed. We are sharing information regarding our experiences with two mysterious disorders that have profoundly effected our two youngest children. Autism is rising to epidemic proportions, more children are regressing–losing skills and language–and more children are now being diagnosed with Mitochondrial disorders. These are complex disorders of energy production and can severely effect neurological development, cause regressions and cause dysfunction in many other systems in the body. Our boys, Neil and Tyler, are both diagnosed with forms of these disorders. Both boys developed normally and experienced neurological regression and the onset of mitochondrial disease.

Mitochondrial Disease and Regressive Autism

Autism is a complex brain disorder that often inhibits a person's ability to communicate, respond to surroundings or form relationships. Few disorders are as devastating to a child and his or her family. One in 150 children are now being diagnosed with autism. Mitochondrial disease is a progressive and life threatening condition. There is no cure. One in 4,000 people are diagnosed with mito. Most forms of mito are genetic disorders.

Important Links:
www.umdf.org
www.mitoaction.org
www.autismspeaks.org
www.disabilityinfo.org

Neil’s Diagnosis

Oxidative Phosphoralization Disorder (Partial Uncoupling)
This is a disorder of energy metabolism that causes some of his cells to decombust before they can produce ATP, the energy needed for life! Neil takes a mitochondrial cocktail, made of high dose vitamins and antioxidants as well as L-carnitine to help increase the functioning of his mitochondria.

Progressive Mitochondrial Encephalopathy
With Landau-Kleffner Syndrome Variant
For these conditions, Neil is on anti-seizure medication and participated in a trial of high dose steroids. The steroids caused him high blood pressure and sugar regulation problems.

Neil’s EEG is abnormal and is progressively worsening–he fights back everyday by working hard in therapy!

Neil has Grade II Savory miller Esophagitis (his esophagus is burnt and twisted) and Eosinophilia Colitis. He also has terrible cycles of dysmotility. These conditions are huge sources of pain for Neil and he battles them everyday. For these conditions Neil takes a proton pump inhibitor, daily milk-of-magnesia and singular to help his colon deal with food allergens. He also takes some holistic and alternatives medications such as primrose oil and omega 3s, creatine and glutathione.

Neil has sensory integration issues and sleep troubles. He also has trouble with autonomic nervous system regulation; dilating his eyes and sweating are problems for him.

Neil is non-verbal and has trouble with communication through signing due to motor problems. Neil uses pictures and gestures, crying, pulling and flirting to get what he wants.

Tyler’s diagnosis

Succinate Dehydrogenase Deficiency and Ubinquinone Cytochrome Reductase Deficiency (Mitochondrial Disease Complex II and partial Complex III)
Although there are no cures for Mitochondrial disorders, Tyler takes a mitochondrial cocktail to help his cells function better and to prevent further damage.

Tyler also has a variant form of Landau-Kleffner Syndrome. He takes anti-convulsants and responded well to high dose steroids.

Tyler has had Gastro-esophageal Reflux disorder since birth and none of his medications have been able to stop the acid from refluxing at night while he tries to sleep. Tyler has never had a full nights rest.

Tyler has Lipodystrophy (muscle wasting); he takes creatine to help keep his muscle healthy. He also has trouble healing infections.

He is also non-verbal but has learned to use many signs to communicate. He is starting to produce some vocalizations!

Neil, Tyler, and Gillian

The boys have complex conditions, frequent emergencies, need cross country travel for expert care, multiple-medication management, hyper vigilance regarding fluids, food intake, germs and rest. They tend to decompensate with slight illness and need hospitalization with infection/fever. We have many uncovered medical and therapy expenses along with many other challenges.

Although Neil and Tyler share the diagnosis of Mitochondrial disease and Autism, they are very different little boys. Both are happy and silly most of the time but Neil is very flirtatious and loves attention. Neil loves to jump on his trampoline and look at his books. His favorite people are his sister Gillian and his grandmother Mimi. Tyler is interested in many different toys, people, animals and TV. He is most interested in Mommy’s attention and loves to be held.

We are blessed to have three beautiful children. Gillian is the amazing big sister who would do anything for her brothers. She is an extraordinarily patient and empathetic with the biggest heart. We are so proud of all our children!