KosAbility is a community diary series posted at 5 PM ET every Sunday and Wednesday by volunteer diarists. This is a gathering place for people who are living with disabilities, who love someone with a disability, or who want to know more about the issues surrounding this topic. There are two parts to each diary. First, a volunteer diarist will offer their specific knowledge and insight about a topic they know intimately. Then, readers are invited to comment on what they've read and or ask general questions about disabilities, share something they've learned, tell bad jokes, post photos, or rage about the unfairness of their situation. Our only rule is to be kind; trolls will be spayed or neutered.
Hello all,
My name is Shawn Younkin and I have a genetic condition known as Tuberous Sclerosis, or Tuberous Sclerosis Complex (TCS). It is a genetic condition that can affect many areas of the body such as kidneys, brain, eyes, nervous system, finger tips, heart, lungs and skin (finger tips? really? Yes, really), in the end- it’s easier to list the organs that have not been affected by TSC.
TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.
"Tuberous Sclerosis Fact Sheet". NINDS. 2006-04-11. http://www.ninds.nih.gov/...
What TSC does in many cases is cause benign tumors to grow in the affected areas I just listed. These tumors themselves are rarely harmful and only present issues later in life if the tumor calcifies and continues to grow as the person gets older. But there are other physiological aspects of TSC that I will get into in a bit.
I was diagnosed with TSC back in 1996 while I was stationed at Lackland Air Force Base, Texas. I was following a suggestion by a Navy corpsman that I get the bumps on my face checked out; he remarked that I could most likely have them removed by laser surgery. I have had these bumps on my face for as long as I can remember and have always related them to the acne issues I had at puberty. I honestly thought I was stuck with them for life so I was happy to hear I might be able to get rid of them. I went and saw a dermatologist and he immediately knew it wasn’t left over acne or whatever I thought it was. He removed one of the bumps and had it biopsied and the test came back for TSC. I was 24 when the diagnosis was made and in my case it was so late in my life that there wasn’t much concern over the condition, if something bad was going to happen to me over this there was a good chance it would have happened already. To say I am lucky to have such a mild case of TSC is an understatement. But what it did was give an explanation to some issues I had growing up.
The doctor who diagnosed me set up a series of Candela laser surgery treatments to zap the facial lesions on my face and I was able to make small progress but unfortunately I was only in Texas for a brief time and wasn’t able to complete the series to finish the job. I still have growths around the nose chin, I might look into having the series finished or not, in the end though it doesn’t bother me too much. The laser surgery itself was interesting- it felt like a pin prick on my face and then of course the smell of lasered skin is always enjoyable. Heh.
That is me. You can see the little bumps and tumors around my nose and nostrils. Those are basic physical signs of TSC- 94% of people with TSC will have those physical characteristics. In some cases the tumors will be worse or more prevelant- in other cases they will better, almost non-existent.
Since my diagnosis I have had ultra sounds of my kidneys where they found a few fatty deposits, and a CT and MRI where they found some calcium deposits in my brain but neither of these issues causes me any great concern. My fingertips have always been in rough shape but I think it's cause I bite my nails and pick at the skin constantly which causes the peeling and not the TSC. I'm not going to link to pics of TSC finger tips because they are kinda not nice to look at.
While the physical aspects of TSC are easily seen there are other physiological aspects as well. The mental issues associated from having TSC are wide ranging- about 50% of people who have TSC have mental issues, ADHD, OCD, anger management issues to name a few , and of those 25% to 61% of people fall in the autistic spectrum. (Numbers taken from Tuberous Schlerosis wikipedia page) TSC causes tumors to grow and again while these tumors are rarely cancerous it can affect the brain which may cause the affected person to have seizures as well. (I have never had a seizure, to my knowledge). TSC is usually inherited but can occur spontaneously- if a person has TSC there is a 50% chance for this to be passed on to any offspring they have, and this lead me and my former wife to look into fostering and adopting children, since we had decided we wanted to have kids one way or another.
With our first foster child my wife went to all sorts of medical conferences (she is a nurse to boot) to try and get hints or clues to anything that might be wrong with him (side note- you have to get almost everything checked out with foster kids because this will enable you set up services for them if needed later on). My wife went to a medical conference on ADHD and upon hearing the personality issues of people with ADHD she recognized she wasn’t hearing about conditions with our foster son but she was hearing about me! She literally said to herself "this isn’t my son, this is my husband!" So more tests were done and I was indeed diagnosed with ADD (I always suspected but never knew how to follow up in finding out) which again I am lucky, it's mild and it's easily treatable with medication. Of course growing up with ADD wasn’t fun- it’s a learning disability (or a "learning differently") and unfortunately affected me in school- (repeated second grade and had a session of summer school) I am 37 now and 25-30 years ago ADD was unheard of, kids just needed to pay attention more.
I remember seeing a doctor before I was discharged from the navy and she related on seeing some kids who had "ADD times a thousand" from their TSC. Again as I said before I am very lucky.
What’s so distinct about TSC is that it affects some people severely, and others, so mildly that it often goes undiagnosed. Some people with TSC, for example, are sentenced to a lifetime of seizures, intellectual disabilities and autism. Other people with TSC, meanwhile, are able to live healthy, totally independent lives. It is this not knowing when, how and to what extent the disease will manifest that is so onerous for so many.
Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. At least two children born each day in the United States will have tuberous sclerosis complex. While many cases go undiagnosed due to the obscurity of the disease and the mild form symptoms may take in some people, TSC is more common than ALS (Lou Gehrig’s Disease) or cystic fibrosis.
http://www.tsalliance.org/...
All in all, the TSC hasn’t really affected my life that negatively. My former wife and I had to make some choices about children and maybe someday if I win the lottery I might get the tumors on my face completely removed. But for now I am okay with it. I hope you found this diary informative if even enjoyable. Thanx for reading!!