Daniel and A-T : Rare Disease Day 2016

Well it has been a while since I posted, and with Rare Disease Day almost here I thought A-T would make a good topic. Most people know that Daniel has A-T but very few people actually know, or maybe don’t want to know, exactly what it is. I find that sometimes the people who know you are either too afraid to ask the details, or too afraid of knowing the answers. I believe that everyone who knows Daniel should take the time to read this. Answers lead to understanding.

A brief summary of A-T

It is a rare inherited childhood disorder involving progressive degeneration of the nervous system. Ataxia-Telangiectasia (A-T) is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. Average prevalence is estimated at 1/100,000 children. The onset of ataxia marks the beginning of progressive degeneration of a part of the brain, known as the cerebellum, that gradually leads to a general lack of muscle control, and eventually confines the patient to a wheelchair. Because of the worsening ataxia, children with A-T lose their ability to write, and speech also becomes slowed and slurred. Even reading eventually becomes impossible as eye movements become difficult to control.

Children with A-T tend to develop malignancies of the blood system almost 1,000 times more frequently than the general population. Lymphoma and leukemia are particularly common types of cancer, although the frequencies of most cancers are elevated. Ironically, another facet of the disease is an extreme sensitivity to radiation, which means that A-T patients cannot tolerate the standard levels of therapeutic radiation or radiomimetic drugs (chemotherapy drugs that work in a way that is similar to radiation therapy) usually given to cancer patients.

A-T is presently incurable and unrelenting. If they are lucky enough not to develop cancer, most A-T children are dependent on wheelchairs by the age of ten, not because their muscles are too weak, but because they cannot control them. Later, A-T patients usually die from respiratory failure or cancer by their early or mid-twenties. A few A-T patients live into their forties, but they are extremely rare. There is no cure for A-T, and there is currently no way to slow the progression of the disease.

For full information please visit: https://brashat.org.au/about/about-a-t/ where you can also make a tax deductible donation to assist with research.

Daniel’s Story

I still remember the day Daniel’s diagnosis was confirmed with terrifying clarity, though not the specific date. It was 2009 and I had been working night shift. I remember waking up in the afternoon to get ready for work. The children were not here and Judy was very somber. She sat me down and told me the results of Daniel’s genetic testing had come back and it was positive for A-T. At first I hardly reacted. A-T had been only a wild possibility up until this point so I had not really learned much about it. I did a quick google search and started reading. What I read hit me like a hammer. It was un-treatable. It was incurable. Our son had just been given a death sentence with an unknown and unpredictable expiration date. We were told to just make the most of whatever time we had. Once this had sunk in I put my head in Judy’s lap and wept like a child. I somehow managed to head off to work, thinking it may help me; boy was I wrong. I pulled over on the way to work to call my mother to give her the news. The minute I heard her voice I was gone again. It was five minutes before I could talk but she calmed me down as mother’s tend to do. When I finally made it to work I was a total zombie, not there at all. I told my workmate was had happened and his reaction was basically “what the fuck are you doing here? Go home and be with your family.” I decided he was right and left after less than an hour. And that was day one.

Now here we are over 7 years later. Over that time we, along with all of Daniel’s friends, have watched him go from a little boy running around the playground, to being in a wheelchair and watching his friends do what he no longer can. In this time he learned and lost the ability to write, though he still tries to do his own name. He now has trouble reading more than a sentence at a time due to the sporadic eye movement. His speech has deteriorated to where he can get frustrated at having to repeat himself. He requires help with feeding, getting dressed, going to the toilet; all the little things we all take for granted. Walking unaided is not possible, though we have managed to get his balance improved lately by introducing something new. He can now walk short distance(the length of the house) on his own but needs someone there to catch if he falls. And it goes on…..

Fortunately there now seems to be a ray of light in the future due to a couple of promising research programs around the world, one here in Australia, but it is too early to tell if it will be successful or will arrive in time to benefit Daniel.

Only time will tell. For now we can do nothing but cling to HOPE!

Comments

  1. Connie

    No matter what, that cheeky grin, fabulous sense of humour and bubbly personality shines through.
    To know him is to love him.
    Connie

  2. Louise Reynolds

    I Know a lot about this Illness my Special Son Ian > What sense of humour do these children have, personality , What a Inspiration to all such a horrible Illness this is my heart is with you and all who have this as we call it A_T Keep Strong Louise x

Leave a Reply

Your email address will not be published. Required fields are marked *

19 − 4 =