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

 

 

 

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