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

Treasured and Enjoyed

Often when I meet parents with young children or people who live with epilepsy, (or any other genetic conditions) the first question they ask me is, “What medication are you on?” These days I have a general response as my TSC has stabilized, I have therefore found medication that works for me. However, this has not always been the case; when I was two years old, I was officially diagnosed with TSC. My paediatrician at the time, (Dr Greef) put me on Tegratol in the hopes of keeping me alive, (while my mother found a paediatric neurologist). It worked.

My mother and father struggled greatly to get me to drink the syrup. Each evening my father would hold be down, while my mother forced a syringe into my mouth. It was a difficult process for both of them. Eventually, my mother tried tasting the medicine; it tasted like battery acid! She finally understood why I disliked it so much. Regardless, it kept me alive and functional, thus I just had to suck it up.

As time past, all was bliss. We met Dr Aduc for the first time when I was nine; she was the best doctor I had ever encountered at that point. She monitored everything and anything, adjusting the Tegratol as my body changed. This worked, until I hit puberty.

Puberty is already strange and difficult for normal teenagers. For kids with genetic conditions, puberty is ten times more challenging. My body completely rejected the Tegoral. I went from having 3 seizures a week, to having 140 seizures a week; or 20 seizures a day. Dr Aduc and my parents tried everything, from Epival to Epilim. A to Z down the medication list we went; my body rejected all of them. Eventually, due to all the seizures I went into a trance like state. Everything slowed down, my schooling stopped, it felt as though the world had stopped. I would go to bed not knowing whether I was going to wake up the next morning. Life was a blur. Just a side note to the parent reading this – I have no memory of those two years, I rely a ton on my mother to feel in the blanks for me.

Finally, after two years of non-stop research, Dr Aduc found a medication called Keppra. New on the market, only tested on adults in the USA; I was the first child to use Keppra in South Africa. It was risky, as I was young, regardless of this, my weight allowed me the opportunity to try the medication. The Keppra worked. My seizures were reduced immensely, and I came out of my trance. My parents were grateful, as was I.

My seizures have been stable ever since. As time has passed, I have experienced other complications which, have affected my medication; for example: weight, diet and other hormonal changes. The most challenging “complication” however, is taking my medication on time. Therefore, since I started the Keppra all those years ago, I set two alarms on my cell-phone. These help me to take my meds exactly 12 hours apart, which has help tremendously to keep my body balanced. What I have learnt from the whole journey is; it takes some experimenting in order to find balance. Once found, balance should not be taken for granted, it should be treasured and enjoyed. 

Medication Alarms 

Medication From Dischem

Orange pills - Tegratol. Yellow and Blue Pills - Keppra

Irony, like Karma is a B...

I love Irony, it’s humorous and yet truthful. As an adult with TSC there is little to worry about – when your epilepsy is stable. Besides the occasional seizure due to a vitamin deficiency, or slight hormonal changes. Times when you are seizure free, tend to occur less often, compared to when you are a child. The Irony is, during these times I tend to “forget” (for just a moment) about my condition. Life becomes an open door and I feel unstoppable.

Recently my Hubby and I put together an exercising regime, which includes climbing, hiking and cycling. We started last month. It was awesome! Until the day I decide to start a new project – “Climbing with TSC”; the Irony is that was the day gravity overpowered me. While doing a bouldering route at City Rock; I attempted an 6A. Upon jumping for the second, hand hold or “Jug” on a 45˚ overhang, I uncontrollably swung out… falling suddenly to the mat, severely spraining my ankle.

Now I’m held up for SIX WEEKS! With crutches and a moonboot, as a new way of manoeuvring. This is a strange and tiresome way of getting around. However, I now have a new- found respect for people with physical disabilities.

 I look forward to climbing again. So, keep a look out for “Climbing with TSC”. I’m seriously considering giving the bouldering a break though, until such time as I learn to fall properly. When I come back, I may just stick to the large walls, with a harness and belayer to catch me if I fall. In the mean- time I’m going to focus my energy, on resting this foot. Hopefully Irony doesn’t decide to pay me another visit.   

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

Embrace the Rhythm Within Your DNA.

Recently my younger brother shared some news with me, he said; "Alex, I have been studying brain waves, epilepsy and seizures. I finally understand what you have been going through." This small interaction got me thinking... My brother has grown up with me, not fully understanding; so how can we expect other people to understand what we go through? Therefore I decided to do a general, broad study of brain waves myself.

The brain consists of continuous electrical activity, sending messages from one neuron to another. If one looks at a neuron under a microscope, one will notice the signals  (made up of ions,) are sent through protein channels. These are known as neurotransmitters. Neurotransmitters consist of two types of receptors; excitatory receptors and inhibitory receptors. Excitatory receptors, open pathways in the brain allowing messages through, while inhibitory receptors close pathways, blocking messages coming through. The flow of electrical activity creates a rhythm, which is then recorded as waves.

You  get four types of brain waves; alpha, beta, theta and delta. These waves are measured in hertz and / or cycles per second. Alpha waves are calm rhythmical waves, which occur at 8-13 cycles per second. They are moderate in speed or frequency and therefore occur during reflection or quietly flowing thoughts. Beta waves replace alpha waves when you focus on a specific cognitive activity. These waves flow at between 14-80 cycles per second, making the frequency faster then that of an alpha wave. Beta waves dominate your mind during waking hours, they are used during processes such as; problem solving, judgement and decision making. You get three different bands of beta waves, all of which vary in frequency based on the level of, intensity or concentration of the person doing the activity. Thirdly you get theta waves. Theta waves move at a slow frequency, between 4-7 cycles per second. They occur during emotional stress such as; disappointment and frustration. Theta waves have also been found to be highly active in people with brain abnormalities such as epilepsy and autism. Most active during the waking up from and the drifting into sleep, theta waves are the gateway to learning and memory. Intuition and the senses are focused within  the mind and body, rather than expressed outwardly. Last but not least you get delta waves, which have the lowest detectable frequency of less than 3.5 cycles per second. Waves of this speed are often only detected during cycles of deep sleep, in infancy, or in people who have brain disorders. The subtleness of these waves is what biologically give us a sense of awareness and empathy. Thus, are the four types of rhythmical brain waves. 

Patterns of  Brain Waves

As previously mentioned; in a normal brain, these waves have normal and consistent patterns. Patterns which keep time, synchronising the different parts of the brain. However, in epileptic like ours, things are different; we have abnormal brain waves. This means we either have too many excitatory receptors; allowing a sudden surge of messages to uncontrollably overwhelm our minds. This is what my brain does. Or we have a lack of inhibitory receptors; which prevent messages from coming through, thereby causing our bodies to shut down during a seizure. Either way epileptic seizures are caused. Seizures are often noticed via outward signs such as grandmal and petimal symptoms. But that's a blog for another day...

We all have our own rhythms. The speed at which we walk, the pace at which we think, the beat at which we laugh, it is all unique to us. Whether we are epileptic or autistic, (or suffer from any other disorder for that matter,) remember, you are fearfully and wonderfully made, there is beauty and purpose in you. So follow where your spirit takes you. Embrace the rhythm within your DNA.