Amy Malin, Fitperez correspondent, sat down and spoke with Samantha Dzembo, the mother of Connor, who has a very rare disease called Ataxia Telangiectasia.
Amy: Tell us about Connor's rare disease and how it affects him.
Samantha: Ataxia Telangiectasia (A-T) is a rare genetic, progressively neuro-degenerative condition. A-T is multi-systematic causing mis-diagnosis of other more well known conditions such as Cerebral Palsy & Muscular Dystrophy. Children with A-T have low immune systems similar to a child with AIDS, are 1000% more at risk than their friends to develop blood cancers and loose their ability to walk and speak clearly typically by 10 yrs old. Children with A-T have no mental delay, only physical; most children do not make it into their 20's passing from either cancer, respiratory distress or common infections their bodies can-not fight.
Amy: What should people know about Connor's rare disease? What are the misconceptions?
Samantha: There are estimated at only 500 children in the USA diagnosed with this disease. A-T is classified as an orphan disease and receives zero to very limited funding outside of grass roots efforts. There is currently no formal treatment and no cure. A-T children are typically above average intelligence despite their outside perception due to limited mobility and slurred speech. They know and feel exactly what is happening to their bodies and they understand the journey ahead for them. Despite this knowledge they are such a positive and loving group of kids that do not let their disabilty limit their life! They are fighters!!
Amy: How has this rare disease impacted your life and your child’s life?
Samantha: My son spent most of his first 3 years in and out of hospitals, being poked with needles, undergoing multiple tests and being evaluated by every doctor under the sun to try and understand why he was so sick. Some doctors thought my husband and I were crazy and that we were going through this for no benefit to our son, however it was our gut feeling that this was not something he would "grow out of." He was on a slew of medications to help his symptoms, which did not help, until he was finally diagnosed just before his 3rd birthday after a full DNA sequencing. We now understand what we need to do to keep Connor on a healthy track which includes daily physical therapy, occupational therapy, and speech therapy to try and maintain his movement and speech as long as possible along with a regimen of life-long prophilactic anti-biotics and anti-inflammatories. For us, life is "pretty normal" since Connor is only 6yrs old and has just begun to physically progress, though his immune system has always been weak. Most A-T children develop blood cancers and, due to radiosensitivity of the condition, go through extreme means of treatment; they begin use of walkers and wheelchairs (some not covered by insurance) from under 10 years old, they undergo surgeries to receive a G-tube for feeding since aspiration and weight maintenance are huge concerns, and they receive weekly/monthly immune infusions to maintain their immune health. A-T is a life altering condition for every family member, emotionally, physically and mentally.
Amy: Why should people care about rare diseases?
Samantha: Though people may not have ever heard of A-T or have met a family of a child/child with A-T, A-T research can lead to discovery of treatments for other more well known conditions. A-T symptoms, as previously stated, are similar to that of Cerebral Palsy, Muscular Dystrophy, AIDS and blood cancer, however, they can also mimic conditions such as Parkinson's and Alzheimer's. In addition, there is a connection between the mutation of A-T to increase the risk of breast and stomach cancer in genetic carriers. Research being done on the mutations of A-T will impact these conditions.
Amy: How can people help?
Samantha: We have a national charity, the A-T Childrens Project, which has been on the cutting edge of A-T research (founded by parents of two A-T children) for 20+ years. There are now foundations in the UK, Ireland, Japan, Israel, Austrailla and more conducting research and are all connected in communication and support. At both the state and local levels, there are a few groups started by family members to raise funds, including my family's foundation, Wobbly Feet Foundation (www.Wobblyfeet.org). We work closely with the A-T Children's Project and to date have co-funded three medical research projects towards medical advances and treatments. People can visit www.wobblyfeet.org and www.atcp.org for more information on A-T and how to get involved.
A few years ago, Amy Malin of Trueheart Events became aware of a major healthcare issue that affects 30 million Americans (10% of U.S. population, 50% of which are children) and 350 million people worldwide. That’s more than all cancers and AIDS combined. The healthcare issue is “rare disease." There are over 7,000 different types of rare diseases. Fewer than 5 percent of rare diseases have a single approved drug treatment, leaving tens of millions of people without hope.