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Family walk out their faith after rare diagnosis

This is a story about hope and a family walking out their faith. Mom Penine shares her story about her son, Wian, who was diagnosed with a rare illness called Fanconi anaemia (FA). This is a rare genetic disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells.

The first miracle

We got married in 2006 and started thinking about a family near the end of 2007.

I fell pregnant easily and we were very excited to find out if it was a boy or a girl. We had a 16 week scan especially to find out the gender. At the appointment, the doctor grew very quiet and kept measuring the scan. Eventually he said that the baby’s head was enlarged, he had hydrocephalus and “by the way, it is a boy”. We saw the specialist that evening and he confirmed hydrocephalus and also saw a large opening in the spine, spina bifida. Both doctors spoke about the severity of this and that we should consider abortion.

That evening we named our son Wian because it means abundant life. We spoke to our parents and told them that this is what the doctors are saying but we are praying and believing that our son is healthy. We went to our cell leaders house at 9pm that same night and they prayed with us.

The next day I went for a blood test as they thought that his bone marrow would be leaking and will be present in my blood. We asked everyone we knew to pray. I cried for 2 days, then went and bought my son’s coming home outfit, it was a fluffy bright blue baby grow.

The blood tests came back and to the doctor’s surprise, it was clean. The specialist did another scan and there was no sign of the spina bifida but he still had enough water on the brain to cause serious complications. The specialist gave us three free scans because he could not believe that the spine was healthy.

Our doctor, however, felt that the baby would not make it in anyway, so we should abort. He pushed so hard. I remember walking out holding my stomach, not knowing how to protect my baby.

Our cell group blessed us with an envelope of money to help with the medical expenses. Lots of people sent messages and scripture but one that has always stayed with me was Jeremiah 29:11 and that has been the scripture I hold onto until this day.

We decided to change doctors. I phoned the doctor most people recommended but his secretary told me the next available appointment would be after the baby was due, and so I went in and told her my story. She gave us an appointment after 6pm in the evening. The new gynae agreed that the baby had hydrocephalus but said that he would not push for an abortion.

Everybody continued to pray  and with every doctor’s visit the water was less, until two weeks before my due date, when the doctor said he couldn’t see water but there could be brain damage and scar tissue and we would have to do a brain scan after the birth.

Wian was born 24 July 2008, perfectly healthy and weighing 2.89kg. There was no sign of anything wrong on his brain scan.

Life goes on

Wian’s little sister, Amelia, was born almost two years later. We ran into financial trouble, I started working again and later studied to be a teacher. In 2013, my husband Herklaas took a job at Anglo Gold Ashanti and we moved from Port Elizabeth to Klerksdorp. Moving, was a very big decision for us. We did not have family in PE but had such close friends and was worried about leaving our church but we had such surety that this was part of God’s plan.

Diagnoses

In PE we did not have a medical aid. Wian was often sick, but never had to be hospitalised. I remember thinking that he had a lot of bruises when he was still a toddler, but as time went by, you just assume he is rough. A teacher noticed that his thumbs did not work as they should and we saw a doctor, who recommended a plastic surgeon who recommended an occupational therapist.

In Dec 2013, I mentioned to our GP that I am concerned that it takes too long for a cut to form a scab and he suggested that we do tests just to make sure he is not a bleeder. Well, test results came back and all his blood counts (red blood cells, platelets and white blood cells) were very low.

We were called in and he explained that more tests would have to be done. He googled the symptoms in front of us and said that it might be a very rare disorder called Fanconi. He referred us to a paediatrician who sent us to an oncologist in Bloemfontein.

There they took bone marrow and by the middle of Jan 2014 we knew it was Fanconi Anemia.

Fanconi Anemia

Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Thus the body struggles to regenerate, this puts them at high risk for cancer and bone marrow failure. The bone marrow makes the blood cells that we need to survive, oxygen-carrying red blood cells, disease-fighting white blood cells, and blood-clotting platelets.

Classic features include abnormal thumbs, short stature, skin hyperpigmentation,abnormal facial features (triangular face, microcephaly), abnormal kidneys, and decreased fertility. We have found that there are a large number of FA kids also struggling with hearing.

If you have FA, your chances of developing certain cancers, including a blood cancer called acute myeloid leukemia (AML), go up. And FA can make you weak and lower your ability to fight disease. The effects of FA can even make your organs shut down.

Regardless of age, nearly everyone affected with FA will experience bone marrow failure, although its progression can vary from person to person. The disease also leaves most adult males and half of females infertile. People with FA are more likely to get hydrocephalus, or fluid on the brain.

Because FA is an inherited disease, there is no way to totally prevent it. However, genetic screening tests can determine whether you and your partner are carriers of a damaged FA gene. That way you can be fully informed before you decide to have children. Because of this a lot of FA kids are only children, we are blessed that we only found out after Amelia was born, otherwise Wian would also have been an only child.

For a child to have Fanconi both parents have to have the affected gene and the child have to inhered these genes from both parents. FA occurs in about one per 130,000 births, with a higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa. It has never shown up in any of our families before. Amelia was never tested because she does not have the facial features, problems with her thumbs or low blood counts, but she might be a carrier.

Treatment

There is no cure for Fanconi Anemia. One of the most common complications is bone marrow failure. Wian (aged 5) was put onto anabolic steroids. This has a number of side effects, such as early onset of puberty and organ damage but it helps the body produce the much needed red blood cells. Wian went for monthly blood tests, his blood counts were low and we learned how to read the numbers printed on the blood results.

Most Fanconi patients need a bone marrow transplant so we started looking for a donor. The most common match is a sibling so Amelia was tested. The doctor also suggested that Herklaas and myself get tested. Parents are very seldom a good match, but in some cases a 50% match is better than nothing. Again lots of praying! Amelia and Herklaas weren’t matches and fell out after the first round of tests, after another two rounds of tests, I was a 100% match. That means he got 50% of my DNA and then another 50% from Herklaas that matched 100% with my DNA. How amazing is that!

The bone marrow transplant is very dangerous especially for FA patients, so it is not done unless there are no other options.

Moving on

The first year (2014) went by in a stressful blur, Wian screamed every time they took blood. The school had to be informed that he was a bleeder and he was not allowed to do any contact sport. The medical aid was exhausted by January and we had to make arrangements to pay of all these DNA tests and the monthly blood tests.

By 2015 we were coping a bit better.

Wian got pneumonia and bronchitis and was in hospital. In hospital he got a nose bleed, the nurses tried to stop it with a wet cloth but soon he had a bucket in front of him with blood streaming out of his mouth and nose. I have never seen so much blood, it was everywhere.

His Red blood cells started dropping more and the steroids were increased, he got sick more frequently and needed blood transfusions every time he was admitted to hospital.

At the end of 2015 the doctor in Bloemfontein told Herklaas that if Wian’s blood counts continue dropping at this rate and he does not receive the transplant, it might be Wian’s last Christmas.

Transplant

We thought it would just happen but the doctor could not get hold of the doctors in Pretoria who would do the transplant and by April nothing had happened. We knew another family with a fanconi child, they saw a doctor in Pretoria and we made an appointment with her hoping that she would be able to get Wian in with the transplant doctors, which she did. She also doubled the steroids Wian was using.

Reach for a dream did an interview with Wian. This was so special. Hearing the lady talk to him about his favourite things was amazing. I was in tears almost the entire time. There are no words to explain how much that interview meant to me. He was in hospital and it was this break from thinking about all the bad things, to just remembering the child he is. After the transplant they did a day for him. We were supposed to go to a farm but it had rained a lot and the roads were closed so we played in a game room at a mall, had pizza and they gave him a toy Pegero ride on car.

The transplant went very well. I am a teacher and had to be of work for the fourth term. The principal was very understanding and I received my full pay throughout this time.

We had so much support, people I had not spoken to in years sent gifts, Wian’s friends made cards and a mom laminated them for him so that they can be cleaned and taken into isolation. The hospital gave him crafts to keep him busy.

15 Sept Wian’s port was inserted and Amelia flew to Knysna to live with my parents for a time. Wian stopped going to school and stayed during the week with his best friend’s mother.

Wian started chemo on 28 Sept 2016, this would kill all his bone marrow to make space for the new bone marrow. Bone marrow was extracted from me early the morning of 5 October and given to him that afternoon. They took it from my hips and the doctors were very pleased with the amount of bone marrow they got.

Herklaas was there for the transplant, staying with his aunt for the weekend, while I slept on the pull out couch in the isolation room. Wian’s blood pressure shot up very high from the transplant and I was vomiting and completely out of it. Herklaas was taking care of both of us in a small room with no room to move and nurses that just came in when it was absolutely necessary.

After the transplant, Wian started getting a runny tummy, he was sick, got sores in his mouth from the chemo and had a bit of a rash. He was on cortisone and morphine which caused a lot of swelling. So much that he has stretch marks on his legs from that. All this was hard but it was better than what was expected. I flew to Knysna for a couple of days while Herklaas took a turn on the sleeper couch.

The new bone marrow started growing and although there were some host versus graft issues, nothing too serious happened. After a couple of weeks in isolation, Wian and myself was allowed to sit outside in the sun for an hour a day, this was such an amazing  feeling sitting in the sun reading to my boy.

In November we got out of hospital, but still needed to see the doctor every 3 days. Originally we thought we would have to stay in Pretoria but decided to go home and then just drive the 2 hrs there and back. Wian had to wear a mask in the car and the house had to be sanitised.

Wian got a bladder infection and was weeing blood every couple of minutes and we had to drive with bottles in the car for him to wee in. Seeing the doctor every 3 days went to every 4 days to once a week to every second week. Amelia came back in December and I had to go work for a couple of days. Wian’s best friend’s big brother, Michael, who just finished matric, looked after Wian.

2017

Michael continued to  look after Wian at home, helped him with school work and started to play ball with him. Wian had lost a lot of weight and had very little muscle tone. He got tired easily and had to get medicine at certain times. Wian also had to get injections in his legs to promote bone marrow growth.

Wian went back to school at the beginning of the 3rd term. Having missed an entire year of school we decided to put him back in grade 2 rather than moving him to grade 3. We moved schools because we did not want him to be known as the sick child.

Today

Today he is 10 years old. We see the doctor every 4 months in Pretoria for blood tests and a check-up.

The bone marrow is growing well and his blood counts are normal. He is no longer a bleeder and is even dong Ju-Jitso to help with his muscle tone which is still not what it should be.

It has taken some work to change the way we treat him, from stressing about a simple bump (is he bleeding too much under the skin?) to letting him try and climb a tree.

Wian will always have to live healthy, his risk for cancer is very high. This means no cancer causing foods and sun protection. He will continue going for check-ups but is on NO medication.

God has been with us this entire time. It has been a rough ride. My sister died of cancer at 24 and lots of Wian’s treatments brought back memories. Amelia was sent to grandparent just like I was left with mine, but God was there. Amelia started praying in tongues before she went to Knysna (age 6) and knew she would be going there before we told her. God even prepared her and gave us peace of mind that she would be okay.

People like saying things like “you are so strong” or “God knew you could handle it, that’s why He gave you a sick child” I do not believe this. God does not punish us or teach us by making our children sick, He is a good God. He prepared us, helped us and sent the right people at the right time.

Dad Herklaas’s story:

After the initial scare of spinal bifida and the miracle that took place, it was hard for me to deal with the new sickness. As I did more research on Fanconi Anemia, I realised that all the medical problems at his birth were all symptoms of Fanconi, and God healed him of them. This made me even more confused and a bit angry. Why would God only heal Wian half way? But I decided to stand on complete healing.

God continued to provide, my position at the mine forced me to take a higher medical aid plan, which we would not have done if I did not have to. We were allowed to pay off the blood tests, which were very expensive.

My touch rugby group raised R25,000 and about R10,000 from people in the community. One gentleman gave around R8,000 and said to me he felt he needed to bless us.

I was still standing on complete healing, but time was starting to run out. As Penine mentioned, Amelia was already in Knysna and Penine and Wian in hospital and chemo was about to start.  I tried to understand why God only healed him halfway. In one of my conversations (arguments) with God I felt Him ask me what am I scared of. I said my son could die, and immediately I felt God asked me if He would not be a better father to Wian then I would ever be.  Well I still did not know what that meant, but the fear of losing Wian was gone.

In hospital, Wian was in good spirits most of the time, even when I had to cut off his hair because it was starting to fall out. Even one of the specialists came in to the room a day or two before Wian went home and shook Wian’s hand, pointed up and told me what happened was from God, they are not that good.

Well today Wian is back at school and off all meds. And we as a family live knowing God is for us and not against us.

 

 

 

 

1 comment

  1. What an amazing testimony and we praise God for what He has done in Wian’s life. He will be a history maker in our land.

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