This is an open letter from a mother of a beautiful little boy that has Mowat-Wilson syndrome. We hope that his story will touch you and maybe the Holy Spirit will lead you to get involved with this beautiful and very strong family.
We as parents were very delighted to find out that we were expecting in July 2015. At the 16 week mark, the routine blood works were done and the results were not what any family would have expected.
The possibility was there that Stefan would have Down syndrome. The Doctor referred us to a fetal assessment center in Pretoria for an amniocenteses. When we arrived we were told what to expect and how the procedure would be done, the three week waiting period was dreadful.
After three weeks we were contacted and to our surprise our baby boy did not have Down syndrome. They did mention that there is a bit of a problem with his heart that they could see when we went through the procedure and therefore they would recommend that our unborn child should be delivered via C-section.
Stefan was born on the 26th January 2016 at 06:50 and was a healthy 3.4 kg and 51 cm long. He was diagnosed with hypospadias (a congenital condition in males in which the opening of the urethra is on the underside of the penis) right after birth.
Stefan was then taken away for evaluation and was only brought to me in the afternoon where we tried breastfeeding him. One of the nurses then noticed that Stefan’s abdomen is extended and he did not pass any meconium.
She immediately contacted the Doctor. The Doctor ordered her to take Stefan to the NICU. His blood sugar levels were extremely low. I could not visit Stefan in the NICU until the next morning. When I finally had the strength to see my little champ, he looked very weak and dehydrated. Stefan still did not pass any meconium.
The doctor came to see Stefan and advised us that Stefan will have to go for an MRI Brain scan on Friday the 29th January 2016. I was discharged on the Thursday and had to leave my precious little boy at the hospital. I thought to myself what have I done wrong? Why am I being the one that has to suffer like this?
Stefan was scheduled for the MRI Brain scan on Friday and as we waited I recall the nurse telling me that they are just waiting for the ambulance to transfer Stefan to a Hospital in Pretoria. My husband did not want to break the news to me like that, I just could not believe it and tears were running down my face.
The test results came back and the Doctor confirmed that the corpus callosum (a broad band of nerve fibers joining the two hemispheres of the brain) has not developed. We as parents were shocked and did not know what the future might hold for us.
When Stefan was transported to Pretoria, it felt like the longest ride of my life. Every noise of the monitors made me anxious and I kept on asking the paramedic if everything is fine with him.
After arriving in Pretoria we met a whole new team of experts, and were welcomed with a smile. Within 30 minutes we saw a Professor and test were done on Stefan. Buy this time his little body was blue from all the needles pricking him. Every time they had to do more blood tests and he started crying, we also started crying. Stefan was scheduled for a biopsy on the Saturday morning. They said it would take about three hours and then he would be out of theatre. After one and a half hours, Stefan was out and we were told by the Professor that he might only have a blockage but he will only be able to tell us after he receives the results. Stefan being dehydrated because he hasn’t had milk from Tuesday afternoon concerned us a lot.
We had to wait the whole weekend without knowing what is wrong with our son. First they thought that Stefan’s intestines was a bit narrow, but then he was diagnosed with Hirschprung’s disease ( Hirschsprung’s (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction.)
Stefan was yet again scheduled to go to theatre on the Monday afternoon. The family waited in the theatre waiting room for three hours. When Stefan came out he had a colostomy bag (A colostomy is a surgical procedure that brings one end of the large intestine out through the abdominal wall. During this procedure, one end of the colon is diverted through an incision in the abdominal wall to create a stoma. A stoma is the opening in the skin where a pouch for collecting feces is attached. People with temporary or long-term colostomies have pouches attached to their sides where feces collect and can be easily disposed of.) Colostomies aren’t always permanent, especially in children with birth defects. We were then referred to a Genetic Pediatrician who came to see Stefan and sat us down and were advised that a heritable or chromosomal anomaly is suspected.
Further testing was done and it was confirmed that Stefan has a Syndrome called Mowat Wilson Syndrome ((MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. MWS is caused by a mutation in the ZEB2 gene. It typically occurs for the first time in a person with MWS and is not inherited from a parent. Vary rarely, more than one child in a family will have MWS. Treatment depends on the symptoms present and focuses on the specific needs of each person.)
Stefan had to go through number of operations such as:
– an incision in the abdominal wall to create a stoma
– anal pull through (Pull-through with colo-anal sleeve anastomosis may be used as a last resort to avoid permanent diversion in patients with complex rectal conditions. This procedure allows the preservation of intestinal continuity by minimizing the hazards of deep dissection in an inflamed and fibrosed pelvis.)
– colostomy closure
– mal rotation (Intestinal malrotation is a congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen). As a result: the small bowel is found predominantly on the right side of the abdomen)
– hypospadias repair (is surgery to correct a defect in the opening of the penis that is present at birth. The urethra (the tube that carries urine from the bladder to outside the body) does not end at the tip of the penis. Instead, it ends on the underside of the penis.)
– grommets (When the middle ear is filled with fluid, the ear structures become less mobile and less capable of carrying sound vibrations to the inner ear. The type of hearing loss this causes is referred to as conductive because the sound is prevented from being properly ‘conducted’ through the middle ear to the hearing nerves in the inner ear.)
Stefan then started getting Salaam attacks (1. a sudden involuntary contraction of a muscle or group of muscles. 2. a sudden, transitory constriction of a passage, canal, or orifice; spasms usually occur when the nerves supplying muscles are irritated, and are often accompanied by pain. A vasospasm is a rare type that occurs in a blood vessel. Spasms vary from mild twitches to severe convulsions and may be the symptoms of any number of disorders. Usually, they will cease when the cause is corrected, but sometimes the only treatment is to suppress the symptoms, as in epilepsy.)
Although both of us were working Stefan had a caregiver looking after him, but Stefan suffers from a low immune system disorders cause abnormally low activity or over activity of the immune system. In cases of immune system over activity, the body attacks and damages its own tissues (autoimmune diseases). Immune deficiency diseases decrease the body’s ability to fight invaders, causing vulnerability to infections)
Stefan was more in Hospital than he was at home, which made it impossible for me to work, as the work did not always understand the circumstances when he was admitted. They however did support us and let me start working earlier to leave in time to take Stefan to all his therapy sessions (Occupational, Physio and Speech).
At the end of April 2017, going into May 2017 Stefan was admitted to hospital four times and had to receive numerous antibiotics as his immune system was very low. The Doctor had to write a motivation letter to receive expensive medication to help to boost his immune system. This however only worked for a while and soon after that Stefan was admitted to hospital in August 2017 again. With Stefan being ill most of the time, we as family has decided for me to stay at home and look after Stefan. Even though I was at home, Stefan would still become ill and was admitted to hospital more than seven times after August 2017 as he struggles with his immune system.
Stefan recently started eating high fiber cereals as he struggles with constipation. He still struggles with some tastes and textures of some foods and will make himself nauseas. This is all because of the sensory issues that are part of the syndrome. It has also been confirmed that Stefan is allergic to cow’s milk and cow’s milk products and cow’s milk protein. The Doctor advised that should Stefan not start eating well and gain weight there would be a possibility that they will have to insert a feeding tube.
My husband being the only breadwinner now has to pay for everything and it leaves us with no money to pay extra medical bills that the Medical aid either won’t pay or short paid.
Should anyone be able to assist please contact his mother Lynette Du Toit. (For safety reasons we did not include personal contact information. Should you wish to contact Lynette please email us at firstname.lastname@example.org)
Stefan has a Facebook page (Baba Stefan Du Toit) that was created by one of my mom’s friends. We always give people updates on this page, share our difficulties and rejoice in the good times. You are more than welcome to join his Facebook page. Even if Stefan goes through a lot he is always happy and always smiles.
Thank you for taking the time to read through the letter.
– By Lynette Du Toit (Stefan’s mother)