Parents
Benita Penfold

Profession:
Founder of the 22q11.2 Deletion Syndrome Foundation South Africa and stay at home mom.
I gave up my corporate career two years ago to spend more time with Tessa and to create the foundation.

Age of parents:
45

Child’s name:
Tessa Coetsee

Age: 14 Years

Is this your only child?
Yes, only child.

Diagnosis of child:
Tessa has 22q11.2 Deletion Syndrome (“22q11”) which is a genetic disorder that is also referred to as Velo-Cardio-Facial Syndrome (VCFS), Shprintzen syndrome, and /or DiGeorge syndrome. The syndrome is identified when genetic tests confirm that a small part of a patient’s chromosome 22 at the q11 region is missing.

22q11 is one of the most common genetic disorders and occurs in approximately 1 in 1000 births worldwide. More than 180 anomalies have been reported in people with 22q11, but expression of the syndrome is highly variable from person to person and no person has all the anomalies. There is no cure for 22q11, but there are ways to treat the various problems associated with the syndrome.

The most common problems associated with the syndrome are:
Cardiac Abnormalities, Feeding Problems During Infancy, Developmental Delays, Learning Difficulties, Palate Abnormalities, Speech & Language Developmental Delays, Hypernasal Speech, Chronic Upper Respiratory & Middle Ear Infections, Immunity Problems.

Tessa did not have the cardiac abnormalities, but she did / still has all the other issues listed above. 

She had pharyngeal flap surgery at age 4 and now speaks beautifully (after years of intensive speech therapy). We recently discovered her one vocal cord is smaller, paralysed and sits lower than the other one.
A recent sleep study also confirmed that Tessa has sleep apnea, so we have new challenges to deal with.

A diagnosis of 22q11 should not be made unless the deletion is confirmed by genetic testing.
For more information on 22q11, see www.22q11sa.org.za or our Facebook page: 22q11.2 SA Deletion Syndrome Foundation

What are the biggest challenges facing your child on a daily basis?
Tessa has very high levels of anxiety and can easy become depressed. She gets very impatient with herself when she struggles with something. She will also always battle with socialisation – especially amongst her peer group. She does not cope well between other children and it is an effort to hold things together when in a social environment between other children or teenagers.

She needs a lot of reassurance about everything and does not cope well if her routine changes. But, she enjoys going out with us (her parents) to shows and restaurants and we do take her with on overseas holidays. The travelling days are very stressful for all of us, but once we reach our destination or back home, everything runs smoothly. We really prepare her well for holidays and take her through everything that she can expect to happen step by step. Even travelling with her we ensure there is structure and routine in every day and we plan and predict every day – so she knows what to expect.

Tessa has bad scoliosis (lumbar curvature and rotation of the spine, which is 22q11 related) and wears a back brace for about 22 hours a day. She often has pain, but just soldiers on. When we ask if she has discomfort or in pain, she always says “Mommy I’m OK - don’t worry about me. I’ll be fine.” She also has Type 1 diabetes (not related to 22q) and this causes her a lot of anguish.

She often asks hard questions about her body and her condition and why she is different. She is very aware of the fact that she struggles with certain things and that she is different to the teenagers she sees in the malls and we constantly got to work on her self-esteem and remind her how brave and courageous and determined she is and that she is the light and joy in our lives.

At times she still battles with sensory issues, e.g. smells, noise, a lot of people – so visits to the mall, friends or restaurants on different days can turn out very differently, all depending on Tessa’s mood or the space she is in on a particular day.

Due to her learning difficulties, she receives special needs education at home and will always require one-on-one tuition. The good news is that she continues to make good progress and is learning very well. She reads beautifully and is very interested in natural sciences and geography. She loves to learn about other countries, climates and cultures. She loves her home school and her teacher. Tessa has a busy schedule with a lot of stimulation, so she enjoys a bit of downtime every afternoon on the couch with her story books and her iPad.

What are the happiest moments you have with your child on a daily basis?
I notice all the small milestones and achievements and celebrate each one of them. I don’t take anything she does for granted and am so grateful she has got to where she is. She can bath and dress independently.

Yes, sometimes something is on back to front, but I constantly remind myself of the progress she has made and is still making. She takes pride in her appearance and loves her hair done pretty and loves dressing nice with matching colours and always wears her jewellery that gives her so much pleasure.

I love seeing Tessa develop her independence and how she is maturing all the time. She now realises and admits if she has acted wrong or unfair towards someone and she will always apologise for her behaviour.

I am so blessed to now be at home with Tessa full time. I get to have lunch with Tessa every day which gives us both a lot of joy.

Dinner time at the table is very special for the family and then all the cuddles before bed time. Tessa is choosy with who she is affectionate – but I’m the lucky one who gets smothered with hugs and kisses all day long.

Are you married?
Tessa’s father and I got divorced when she was 5 years old and we are both married again to wonderful spouses who also love Tessa unconditionally. We all get on very well and we all agreed Tessa will always be our first priority.

Has your special needs child had an effect on your marriage?
Having a child with special needs will always impact any relationship. All decisions need to be made with her best interest in mind. We always need to plan everything very well in advance so cannot just do things ‘spur of the moment’. Tessa impacts everything – from deciding what’s for dinner on a Friday evening, to choosing restaurants and even friends! She needs a lot of structure and routine.

Are your family and friends supportive?
I have the most amazing husband, mother and sister and could not ask for more support!
Tessa’s stepdad loves her like his own and has given her a lot of structure and security.

For years my mother was Tessa’s primary caregiver while I was working. My sister and Tessa love one another incredibly and that gives me a lot of comfort.

Tessa has had the same teacher for almost five years now and she also provides so much support and is part of the family. If I have to go away for a few days she moves in to take care of things! We have a few very close, selective friends who also accept and love Tessa and understand her differences.

What has your child taught you about yourself, both positively and negatively?
Tessa has taught me a lot of patience and that things happen in their own time. I have also learnt that I cannot always be in control of how things will work out! Over the years I have had to learn to trust others more. At times I am still too hard on myself and will blame myself if we had a bad day or always over analysing that I could have handled something differently. 


Tessa has changed my life. She inspires me and I have founded the 22q11.2 Deletion Syndrome Foundation South Africa to create more awareness and education around 22q11 in South Africa. I do believe she and I were meant to be together as mother and daughter. I look into her eyes and see into her soul. I see what nobody else can see and that makes me so content and happy and fulfilled. I believe that with her I am living the life I was meant to live. This is who we are and who both of us must be.

Do you take time out, if so what do you do to relax?
My husband and I enjoy the theatre every couple of weeks. Because Tessa visits her dad every second weekend and alternate Christmas holidays, it gives my husband and I the opportunity to do something on our own – whether it is a weekend away, holiday alone or just a quiet weekend at home. 

I make time every day for exercise and I love cooking every evening for my family!
I am very fortunate and blessed not to be working full-time anymore so I do have some time for myself and to just enjoy Tessa.

What has made the biggest difference to your child's quality of life?
The fact that we home school her and her ongoing therapies. She functions very well when everything is predictable and there is structure and routine. She loves her activities which include ballet, pilates, art and music therapy and seeing her therapist twice a week to help her cope with her anxiety and teach her coping mechanisms.

What is your dream for your child?
To be happy and develop to her own best potential and to remain the kind hearted, generous beautiful soul she is.  We do hope she will find something that will make her feel fulfilled and keep her occupied as an adult. At this stage we do not know what the future holds and we taking it a day / week / year at a time.