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

 

 

 

Exceptionally Heavy Rains - When Your TSC Spikes out of control!

By   

Alexis Minnaar  

Written: 05/04/2021  

Updated: 26/11/2021  

  

Hey, friends and family!  

 

Full disclosure? I drafted this article in April. However, honestly, I have not had the energy to post it. So, here is an update, (along with the original piece).  

Recently, a friend of mine pointed out that I have been absent for a while. He casually remarked, “Hey Alex, when are you writing again? I haven’t received any notifications recently.” At this point, I explained to him, when living with TSC and epilepsy, you do not have control all the time. Sometimes, epilepsy spikes and spirals out of control. When experiencing between 10 and 15 seizures a day, you lose control over your own mind. You lose control over your own thoughts. You lose control over your own body. This sensation is frightening as well as frustrating, rendering you helpless - trapped within your own vessel: body, mind, soul. Over the past month and a half (in April) ten months to date, this is where I am. 

  

In February, I was hospitalised for three days; seeing doctors, undergoing scans trying to figure out what has been causing my epilepsy to suddenly relapse. Before this, my epilepsy had been under control for three years. Thus, the tidal wave of seizures took me by surprise. While in Sunning Hill Hospital, I underwent a 24h video EEG (electroencephalogram) including two strobe EEGs and two hyperventilation EEGs. Along with this, I also went for an MRI scan (Magnetic Resonance Imaging).  Although I was having seizures, the EEGs did not pick up ANY readings supporting the events but instead, it returned normal. The MRI results, however, were surprising to say the least. According to the newest results, the doctors may have discovered an apparently “new” nodule deeper within my brain tissue. This “new” nodule is situated in the white matter. I say “new” because the odds are, it has always been there; the older machines just never picked it up due to its depth. Dr T Aduc (my Paediatric neurologist) and Dr J Pearl (my adult neurologist), then agreed to change my medication dosages. The Tegoratol has now increased from 200mg to 500mg (morning and night). This has been done in an attempt, to stabilize the seizures. So far, this has been unsuccessful. 

 

I adamantly continued seeking professional help during this time. Dr Peal subsequently has referred me to Dr Bulter, an epileptologist. He specializes in (you have guessed it) - epilepsy. At the end of November, I am travelling to Constantia Berg, Cape Town to meet him. This stay is scheduled to be a long one. Dr Butler has more advanced technology than the hospitals here in Joburg, therefore, I will be hospitalised in Cape Town for three weeks of investigatory tests. During this time, we will be doing scans and research to determine WHY my seizures are acting the way they are. I honestly, just hope we gain some insights this time.  

  

In the meantime, it has been important for my mental health that I return to the land of the living. After my hospital visit (in February), I returned to work, I had to continue to take care of my family, I had to return to my studies. The one thing I have learned, repeatedly, is that the world does not end, even during times we feel like it might. I am a wife, I am an educator, my life cannot simply stop because I am struggling. There are others in my care, classes continue, life moves on. This means, adjusting my lifestyle to promote balance and getting enough sleep and nutrients to function optimally. 

  

Sometimes, (but not always) we bring these types of situations on ourselves. Things like, sleep deprivation - because we have SO MUCH work to do or fun things to experience, bad diet – because it is easier to order Uber Eats and drink one more coffee than make our own lunches, or like staying in a toxic relationship or toxic friendships because you are afraid to be alone, (or people have told you, you will not survive without them). Sometimes, our health relapses due to circumstances outside of our control; stress, trauma we have suffered, emotions we suppress because we are afraid of being “weak.” 

 

In all this though, how we deal with, and work through uncontrollable epileptic episodes is what matters most. We cannot allow ourselves to stay in a position which causes us more harm than good. 

  

So far, all the tests I have done, have frustratingly returned normal. There is certainly an imbalance somewhere, in either my lifestyle and/or my epilepsy that needs to be identified. The doctors and I are looking at a few theories which will explain the relapses in my condition. I will keep you all updated as we discover more. 

  

I hope you are all staying healthy. 

 

Live without being defined by your condition. 

 

Power through whatever you are currently going through. Remember, to talk with professionals, as well as doing your own research. Eventually, a solution will be found. Difficulties such as these, help to build character within us. Take courage and stay strong.  

 

P.s If you are looking for encouragement, look to the Hibiscus flower. The one in my mother’s garden, only blooms after exceptionally heavy rains.                              

My Mother's Hibiscus

Back to School?

Dear parents,  

 

Are you concerned about sending your child back to school?  

Covid 19 has thrown many of us into a somewhat negative slump. We have begun to question the safety and certainty of our lives, as well as the lives of our children. We don’t know if our spouses will have work in the near future. We don’t even know when schools will reopen (if schools will reopen at all). However, instead of panicking, why not turn this uncertainty into a positive? Why not take your child’s learning into your own hands? Why not start home-schooling?

I suppose you are wondering what home-schooling is. According to the Policy on Home Education 2018; “The character of Home Education represents and honours the parents’ wish to personally facilitate the education of her or his child in the family home.” Therefore, as a homeschooling parent you take full responsibility for your child’s education. You will therefore be permitted to teach your child anything, in any way as long as it is not inferior to the standard of education in public schools. You can either teach your child personally, or you could hire a tutor to do so.  

          

Sounds appealing right? The next question would then be, “Where do you start?”. You as the parent or guardian, must apply to the Head of your Provincial Department of Education to register. This can be done by filling in a form online at- www.education.gov.za. As a homeschooler you may want to make use of a curriculum provider such as Edu-Croft. https://www.educroft.com/  

What advantages does homeschooling give me? 

As a homeschooler my whole life, I have many stories I could share with you. Many experiences and techniques which one could say, have given me an advantage in my adult life. For instance, Homeschooling allowed me to learn about the world through literature. Reading, writing and arithmetic were the three most important things we focused on while I was growing up. We would read novels such as ‘Hans Brinker and the Sliver Skates’, after which we would study the history and geography of Holland. Following this, we would then write summaries of what we had read or diary entries about what we had learned throughout the day.  

 

My mother taught us routine and organisational skills by helping create and stick to daily schedules. These would include household chores, general hygiene and neatness, before beginning school at 08h00 each morning. Having a designated study area outside of our bedrooms, programmed our minds to focus while sitting at our desks. In contrast relaxing would take place in our rooms; therefore, concentration was not a problem.  

 

All this time together helped contribute to the close relationship my brothers, mother and I now share. We were and still are, a close family. Having good communication with my family allowed my mother to keep an eye on my health. Hospital visits became field trips (of which there were many). Doctors’ appointments became Doctors’ interviews: we would ask them questions about their procedures, motivations, and inspirations. Trips like these prevented anxiety because the focus was on understanding the science. 

 

 Homeschooling has made me who I am today. I value learning and education and I have worked in Early Childhood Development as a Directress and as a Highschool tutor. These are some of the best decisions I ever made. Studying will always be a lifelong pursuit for me. My brothers and I have powerful levels of self-discipline which influences our own work ethics – motivating us to perform to the best of our ability; intellectually, emotionally and physically.  

 

Are these not life skills and qualities you would hope to instil in your children? Homeschooling is an effective vehicle to accomplish this.