Questionnaire for Tuberous Sclerosis Complex

Hi All, 

 

On the 5^th of November 2022, there will be a TSC conference in Stellenbosch. Attending are roughly 20 TSC professionals. Thus, in preparation for this I am kindly asking you to participate in some research.

  

This questionnaire is a tool I’m using to understand your needs and concerns. Please take the time to answer the following questions. 

 

Your insight is greatly appreciated.  

 

Surname Name: ___________________________________Anonymous 

 

South African Province: _________________________________________

 

Do you or your child have TSC? __________________________________

 

1.     Has it be easy to find medical professionals with sufficient knowledge of this disorder? _________________________________________________________________________________________________________________

2.     How did you find your current medical professional? _________________________________________________________________________________________________________________

 

3.     Do medical professionals openly give you explanations concerning: 

a.     Medications (use and side effects): _____________________________________________________________________________________________________

b.     Research: 

____________________________________________________________________________________________________

c.     Testing techniques: ____________________________________________________________________________________________________

 

d.     Is Information on TSC easily and freely available to you? ___________________________________________________________________________________________________

 

 

4.     What TSC Symptoms are you dealing with? 

 

a.     Skin:

                                                 i.     Hypomelanic Macules (white patches) 

                                                ii.     Angiofibromas (a facial rash)                

                                              iii.     Shagreen Patches (a thick skin patch) 

                                              iv.     Ungual Fibromas (growths on/under finger/ toe nails) 

 

b.     Organ Growths

                                                 i.     Cardiac Rhabdomyomas (growths on the heart)      

                                                ii.     Cartical tubers and/or Subependymal nodules on the brain                                                                     

                                              iii.     Angiomyolipomas on the kidneys                             

                                              iv.     Lymphangioleiomyomatosis (growths on the lungs) 

 

c.     Epilepsy                                        Yes  No 

 

                                                i.     Type: ___________________________________________

 

                                              ii.     How do you record the severity frequency your child’s seizures? ________________________________________________________________________________________

 

d.     Autism:                                           Yes  No 

 

                                                i.     Type: ____________________________________________

 

                                              ii.     Do you keep a log of autistic episodes; of type and frequency? _________________________________________________________________________________________

 

5.     What is your TSC budget (per month)? ______________________

 

a.     Doctors and Therapists ____________________________

b.     Scans __________________________________________

c.     Medication  ______________________________________

d.     Medical Aid: _____________________________________

 

6.     What is your greatest concern what it comes to TSC? ___________________________________________________________________________________________________________________________________________________________________________________________________________________________________

 

7.     Which scans do you tend to do most often? ­­

 

a.     Medical Resonance Imaging (MRI)                       

b.     Computed Tomography Scans (CT/ CAT)             

c.     Electroencephalogram (EEGs)                              

d.     Optic scans _____________________________ 

e.     Audio Scans _____________ _______________ 

f.      Allergies ­­­­__________________ _____________ 

 

8.     Do you have a strong support system around you?           Yes  No 

 

a.     Professionals ­__________________________________

b.     Therapists ____________________________________

c.     Friends ______________________________________

d.     Family______________________________________

 

9.     Have you found there is discrimination toward you or your child?          Yes  No 

 

a.     Explain the type: _____________________________________

 

                                                i.     Social ________________________________

                                              ii.     Emotional _____________________________

                                             iii.     Educational____________________________

                                             iv.     Environmental __________________________

 

b.     Which of the above causes the most strain for the TSC individual?

_____________________________________________________________________________________________________

 

                                                i.     Give further details. ______________________________________________________________________________________________________________________________________

 

10.  Elaborate on the education for your children.

 

a.     Was it simple to find a school for them?                  Yes  No 

b.     Do they have Developmental Delay?                 Yes  No 

c.     Do they struggle with Behavioural Difficulties? Yes  No 

d.     Is the school suited to deal with medical disorders? Yes  No 

 

Thank you for participating in this survey. We aim to answer many of these questions in the conference, in the hopes of providing a more supportive and inclusive service to TSC families in South Africa. 

 

Kindest Thanks. 

Alexis Minnaar

Founder of:

Living With TSC; Never a Dull Moment 

Cell Phone: 078 339 2325

Email: alexisbilyard7@gmail.com

 

 

 

A Discussion On TAND

Hi All

Recently I was invited to sit in on a Podcast with Jill Woodworth and Prof. Petrus De Vries. Now it has finally arrived!  

In this conversation Prof. De Vries shares his insights on the future of TSC and TSC management. As well as what TAND and TANDem are, and how this umbrella term could benefit you and your family in the future. I hope you enjoy it. 

Thanks a lot to TSC Talks for hosting this podcast! Your support in creating awareness for TSC has been truly appreciated.   

Kindly leave a comment on what you enjoyed the most, and what you would like to see in the future with TSC.

https://www.spreaker.com/show/1666046

My New Logo!!

TSC Indaba 2018!

On the 17th of November, I was scrolling through Face-book when something caught my eye; "TSC Indaba UCT 24th November 2018". What particularly excited me were the words; "We invite you to join...families and individuals who live with Tuberous Sclerosis Complex (TSC)". Now please understand, I'm 24-years-old, throughout my childhood (and brief adulthood), I have met many people with epilepsy and other genetic disorders, however, I have only met one other person with TSC. So to be offered the opportunity to meet "families" truly excited me. Not to mention the world renowned Prof. Petrus de Vries was going to be there! The last time I read about a conference that he attended, it was in Washington D.C, therefore, I was not planning to miss this Indaba. My mind was made up.

The Indaba was amazing! It is a kind of informal meeting, there were seven families, myself along with three speakers; who updated us on the latest and greatest new in the field of TSC. Everybody shared their journeys thus far. It was fascinating to here everybody's experiences, especially how different a father's experience is to a mother's experience in all cases. 

As we spoke, Prof. de Vries took note of questions, concerns and expectations. The ones I can recall are the following;

• What can parents expect in there child's future? (in terms of development, schooling, medicine, adapting into society and so on)
• Requesting more parental support, such as; availability of information and meetings. 
• To build a TSC family or community.
• To work towards better support systems for adults with TSC. 
• How to make the transition from adolescence to adulthood in terms of doctors more simple.
• How to integrate adults with TSC into society, in terms of finding accommodating jobs and in some cases educated and willing care takers.

I found these points interesting, some had not even crossed my mind before. I hope that in some way, I may help in some of these areas. Prof. de Vries as well as the other speakers seemed excited at the progress of the Indaba and were excited to begin innovating some ideas to accommodate future generations concerning these points. I am truly excited for what the future holds. 

I would like to extend a huge thank you to:

• Professor Petrus de Vries 
• Professor Regan Solomons 
• Dr. Birgit Schlegel 
• Max de Vries     

 Looking forward to the next gathering. If anybody in the audience is in the Gauteng area, who would like to have a similar gathering, please leave a comment below, so that arrangements may be made. Kind Regards Alexis Minnaar.
             

Tuberous Sclerosis South Africa

TSC is a Mountain.

I have a friend who is a mountain climber, a dangerous sounding sport right? However when I asked him about it, he confidently stated; “It’s not the sport that is dangerous it’s gear fear.” Gear fear is when you don’t believe that the equipment you are using will keep you safe. It is the same reason skydivers’ release their parachutes too early, ending up tangled, as the parachute malfunctions. This got me thinking… I have been in and out of hospitals for 23 years, and yet I am still sceptical of the usual set of scans and new medications. Why??

What triggers these internal concerns?? Theoretically it is gear fear. What if the medication does not work? What if the MRI or EEG machines malfunction? My worst has always been what if I have a seizure, because of the medication, and never wake up?

Yes children have these thoughts too. Ever since I was old enough to understand, I have had these worries. Parents tend to forget that children (regardless of age) do understand. It is natural for parent to try and hide their fear, but children pick up on it, and it becomes their fear. That is most dangerous part of climbing this mountain.

However if we just trusted that the mechanics who built the machines knew what they were doing, and that the doctors who use them, know what they are doing, our stress levels would be halved. Furthermore medication technology is being developed each and every day. So if one medication does not work, you need to move to the next one until, you find one that does. Eventually, balance is found, and results or solutions are established.

 

Christiaan Minnaar: 

My Husband

Mountains are not easy to climb; a lot of strength and discipline is required. Even so, being afraid of the equipment, (used to get you to the top) or giving up completely is not an option. TSC is a mountain. We have to keep climbing. Perhaps one day we will reach the top. Perhaps one day, a cure will be discovered.           

Spectacular Bonding Moments.

Then you get those moments... moments when you are seizure free, and you forget all about the 'what ifs'. Moments when you feel like climbing a mountain, only to yell at the top of your lungs; "Come on world! I've got this!" Moments of pure bliss. 

Recently my husband and I, (along with the rest of the family), took a little trip to Mtwalume KZN. For the first time, in a long time, I was not calculating the distance to the nearest hospital, I was not worried about the amount of medication I had, or when I should take it, I was just... present. Some of you may be asking; "So what?" or "How is this relevant to me?" Well the thing is... I am want you would call a 'happy worrier'. I don't usually feel as though I have thought something through thoroughly, if I have not worried about it for at least 24 hours!! Silly I know... but to some extent this vacation was somewhat a small accomplishment for me.

Along with this, I feel as though some of you could relate to this. Whether you are an adult, a parent, or a child with TSC, we have all to some extent allowed it to hold us back. Our worrying hinders us from experiencing the world around us; because we have so many 'what ifs' trudging through our brains, in super slow motion. So in a way, this story is relevant. 

During this holiday, I was hoping to cautiously challenge myself, aiming to engage all my senses in feeling my surroundings. I began, (naturally) with the ocean. Swimming in the sea, has not been at the top of my 'to do list' for about ten years. Usually, I sit on the shore observing people, while reading or writing. However, not this time. "Come in..." my husband requested coaxingly, while gently wading into the water. Hesitatingly I paused as the water reached my knees. My husband, father, and brothers on the other hand, waded in with a Body board, up to just before the breakers.Standing there, watching them, I embraced the ocean with all of its power. Initially the waves surged forward, forcing my knees to lock, before suddenly retreating as if to intentionally trip me. Over and over this happened. Tasting the salt. Hearing the crash, sizzle, of the waves. Smelling the wet sand. Seeing the horizon go on for kilometers before me. It was breath taking! 

Eventually, wading to the shore where my mother sat, she appeared slightly concerned. As she peered up at me, I couldn't help but giggle. "You see the waves ma?" I inquired rhetorically. "That is what my brain feels like when I have a seizure. As the waves build up, I feel the seizure approaching. Once the wave crash, the seizure has landed. As the race to the shore once again, I feel the after effects." I smiled. "I was worried about you, so far in." she responded gazing out at my father and brothers. It was relieving to finally give her a physical visual, after all these years, of clumsy explanation. 

Mtwalume Beach

Our vacation ended up being a spectacular bonding moment for us all. No one worried, no one calculated distances to or from medical services. Joy and splendor reigned supreme, and for a split second it was as if all of Life's bliss radiated from the ocean itself.                  

TSC Day is Here!!

Dear Friends and Family
Tuberous Sclerosis Complex (TSC) is a rare genetic disease that causes tumors to form in vital organs, like the brain, kidneys, heart, lungs, eyes and skin. TSC is also the leading genetic cause of both epilepsy and autism.
South Africa has a total of 54 million people... Among these people we have only two Major Researchers, who have dedicated their lives work to finding the cure to the Tuberous Sclerosis Complex.
Therefore, please post a photograph of yourself in the following picture frame on Facebook or any other social media, in order to help mark TSC Global Awareness Day on May 15.
Help us increase awareness by Clicking on the link below..

Support TSC Global Awareness Day!

May 15 is TSC Global Awareness Day. More than 1 million people world wide have tuberous sclerosis complex (TSC). You can help support TSC Global Awareness Day with a custom…

TSCGLOBALDAY.ORG

Patience, Guidance, and Time...

As a parent, is the education of your child important?
If so, then wouldn't the education of a child with learning difficulties be even more so?
There is a distinct difference between learning DIFFICULTIES, and learning DISABILITIES.

Learning Difficulties; [noun] Difficulties in acquiring knowledge and skills to the normal level expected of those of the same age.

Learning Disabilities; [noun] Learning Disabilities refer to a number of disorders which may affect the acquisition, organization, retention, understanding or use of verbal or nonverbal information.

Learning Barriers; [noun] A barrier to learning is anything that stands in the way of a child being able to learn effectively. A learner may experience one or more barriers to learning throughout his or her education. ... For example extreme poverty, abuse or neglect will all act as barriers to a child's learning.

At the age of twenty, I was working at a Montessori school; when a mother walked in with her toddler. The young child was between the ages of two and three years old. As she toured the school, the mom pleaded for the acceptance of admission for her child... her request was declined. My supervisor at the time had his reasons, however the fact that the little one had epilepsy was at the top of his list. This decision upset me greatly, unfortunately as the twenty year old student teacher, with less then six months experience, my opinion did not matter.

The fact that a school, who boasted in a theory; designed to aid in the education of children with learning difficulties and barriers, would refuse an epileptic child puzzled me. As a toddler, I myself was welcomed into a Montessori school. It as the greatest act of kindness, bestowed on my family at the time. The teachers were kind and patient, making exceptions when needed; for instance my father popping in every now and then to give me my medicine. The hands on learning aided me in over coming my learning barriers; by allowing me to repeat the work as many times as needed. Personally I feel as though, this was proof that the theory worked. (I have been "obsessed" with it ever since).

As time progressed a Montessori school was no longer optional. We needed to find another school. This was not an easy task however, as no one would accept me. Eventually my parents agreed that home schooling would be best. Adopting many different theories my mom would teach us from roughly 08:00 am-14:30 pm each day. It was a success; (besides the two year gap between the ages of 10 - 12 years old) as discussed in my previous post). This method of education aided my mom, in keeping track of my health, and abilities. For instance, unfortunately I do not grasp the concept of mathematics very well, therefore I had to exchange Math core, for Math literacy in GR 10. However besides no longer being able to become an archaeologist, I still passed matric. I have decided to challenge myself further by studying through UNISA (the University of South Africa).

I understand many people, and children like myself have learning difficulties. However learning is not impossible. With patience, guidance, and time we are capable of understanding the world around us. It is with this hope, I am driven to encourage you. It is with this hope, I am driven to share the rest of my story with you.

Hope is on the Horizon

When I was a young girl, I would sit for hours when the world overwhelmed me, colouring in, building puzzles and reading. Isolating myself, it would just be me and my thoughts. My imagination would run wild, as I pondered stories. Stories, songs, scenes, and settings of the pictures, would occupy my mind. As time passed, as I got older, these stories became alive within me. I had created a new world in which I could hide. Isolated from reality. When I was eleven years old I took it to the extreme... I lived there. I lived in a fantasy world, and so to stay there, I would go to bed early (18:00 instead of 20:00) and wake up early, (03:00am instead of 07:00am) hiding from my family. As my epilepsy rapidly got out of hand, I then tried to justify my behaviour to my doctor, Dr T Aduc. Dr Aduc did not approve of my new sleeping arrangements, neither did my parents, however I did not care... So for two years I lived like this.

For two years I isolated myself, avoiding the truth of my circumstances, and situation. Fighting with anyone and everyone who prevented me from entering my hiding place. In my world I was the heroine, could do anything, be anyone, be loved by everyone, with no health restraints. I was myself,(with no health issues), I was Veronica Baily (a runaway from home), I was Nikita Grouban (a genius accomplishing qualifications beyond her years), I was Angel, (a overprotected middle child of twelve), and lastly but not least, I was Nadine Douglas (a technology genius). All these characters had three things in common; firstly they were skilled fighters, both physically as  well as mentally. Secondly they only fought to protect the people them loved, as well as those who could not protect themselves. And thirdly none of them allowed their circumstances to hold them back, or prevent them from accomplishing anything... Hypocritical right? coming from a girl hiding in the safety of her own mind?

My Parents suffered... the fact of the matter is that in reality; I had gone through puberty early, but neglected my hygiene. Education had to stop for the two years, while this was taking place. Many of our friends and family neglected us during this time. Communication was challenging, my parents tried and tried, but their words would fly over my head unreachable. It was a living hell for us all, my sanctuary had consumed me Until one day, as I hugged my father my father goodnight he gently stated that he loved me... And I heard him... It was at that moment, after hearing my father's voice and trying multiple medications that I finally came out of my "trans".

I'm not saying that it wrong to colour in pictures or build puzzles. I still do, I still colour, and even enter my imaginary world from time to time. However it is no longer a coping strategy... It is where my creativity now lies. As I sit here reflecting on the past I realize it was a communication problem. I did not have the courage to explain to my parents that I was struggling with harsh emotional cruelties. I thought that because I was the eldest, I  had to put on a brave face, solving these difficulties myself. Now that I am older I realize communication is key. In situations like this, open, honest, sensitive, and loving conversation is important. Please remember that whether a person has autism or epilepsy, whether they are in a "trans for two years or twenty years, we can still hear, see, and process things around us. It is communication alone that we struggle with. Yet hope is on the horizon, as courage soon reveals itself (as in my case) we soon recover, returning to our normal selves.Farther advances in medical research are arising for those with more severe cases. It is our job to never give up, keeping hope and courage close to our hearts as we continue along our individual journeys. Stay in touch, stay in communication.