We were blessed with the wonderful news of being pregnant six months after I had a miscarriage. We had to take precautions so I was on medication to prevent another miscarriage. After the first four months of being sick I started to feel great until 7months (28weeks) when we were all excited for our 4D scan. But the lady doing the sonar picked up that Björn’s ventricles in his brain measured on the borderline of what it must be.
We then monitored it together with my excellent Gynaecologist where I had to get a #MRIscan while being 30 weeks pregnant for Björn. There after i was admitted 3 times in hospital for monitoring Björn. I had to get steroid injections for Björn’s lungs. After the last admission the doctor said that my amniotic fluid is “non existent” and his growth was 3 weeks behind so we had to do a c-section the next day.
Björn was born on 36weeks on 20 April 2016 weighing 2.55kg. He went straight to the #NICU as his one lung was collapsed and had trouble breathing. He was then diagnosed with #Hydrocephalus and #SilentReflux. He stayed a total of 23 days before being discharged.
We were so happy and nervous to take him home. He was so small and fragile. Almost 2 weeks after being discharged we were at friends and Björn aspirated after having a feed. He was laying still like he was sleeping but he did not respond to touch. I just felt something is not right. Then I said he is not breathing. As soon as I said that he started turning blue going to purple. I just saw how I was going to plan a funeral for my baby boy. My husband started to cry, our friends freaked out and started shouting as no one knew what to actually do. By some miracle (actually just God’s grace I think) I was just calm so I said we must do CPR. Thank goodness that the hospital gave us a paper on CPR when he was discharged and I actually read it. We started CPR and while we rushed to the hospital our friend continued with CPR on Bjorn. That day God showed us that He has plans for us.
Björn started to come by although being pale in colour. He was again admitted in the NICU for a week with #AspirationPneumonia.
All went good as he recovered but again 2 weeks after that he started to turn blue again as he drinks on a bottle. I again just knew something was not right. We then drove to Pretoria from Witbank (where we stay). At the ER rooms they couldn’t find anything wrong and said he was fine. As we were still being kept for monitoring he had a bottle and turned blue again. In a way thank goodness it happened so they can see what I meant cause the staff looked at me like I was just paranoid. They put him on oxygen straight away and admitted him in PICU. Tests indicated that he had 3 viruses. He was very sick. The was sooo pale he literally looked like he is dying. He was intubated and on a ventilator for 5 days and oxygen for another week before being discharged.
There after he was in hospital again for aspiration Pneumonia. In September 2016 he started to vomit a lot and was admitted. The Neurosurgeon did some scans. It showed that he ventricles has enlarged. He decided to try a ETV (Endioscopic Third Ventricolostomy) as the ventricles kept on getting larger and his head was bulging. Unfortunately the operation was not successful.
On 25 November 2016 Björn had to get a VP Shunt (automatic pump inserted into the brain like a straw and catheters placed under the skin into stomach to drain excess fluid). After few days he was discharged. Since then he has had Pneumonia another 5 times & Bronchitis twice up to this day. In June 2016 he had another operation to remove a cyst from his nose that was actually facial cells trapped under the skin while developing as an embryo /fetus according to doctor. He had to get grommets twice (June 2016 & Sep 2018), had a hydrocele which had to be repaired in May 2018, had so many CT Scans, MRI Scans, Chest X-rays, Milk Scan, Barium X-rays, Bronchoscopies, Laryngoscopy, Gastroscopy. In August 2017 he had to get glasses after we took him to an Ophthalmologist as his eyes would go inward.
Out of desperation with Björn being in hospital every month for 6 months I took him to a Pediatric Pulmonologist. After some tests she gave him Asthma Inhalers to take every day which helps a lot. We are not sure if the lung has developed fully by now. We know that his heart is rotated but after 2 consultations the specialist confirmed that all functions are normal.
So long story short we started therapy (Occupational and speech in 2017). He started Physio Therapy as well from this year July. Up to date he can sit independently, turn 360 degrees around and say a few words. He is still very sensitive to certain foods and mostly swallows and does not chew.
After a follow up with the Neurologist in June 2018 Björn was diagnosed with #JoubertSyndrome. Basically his Cerebellum and vermis is mis-formed. We were so shocked but deep down I knew something was not normal as he develops so slow and is so small for this age. The syndrome included #Hypotonia (low muscle tone) (which Björn was born with), #DevelopmentalDelays, some can have eye problems, breathing problems, Intellectual Delays, some facial features.
After we had time to process the news we just took a breath and moved forward. Day by day we take it slow baby steps and help Björn as much as possible. We are looking into Horse riding therapy as well. And for now he is in a normal school with normal kids for as long as possible. Despite everything this small boy has been through he is always happy and smiling and such a sweet boy.
God has a plan for everyone. Never would I have thought that I will have my life changed so much by having a special child but I will never exchange him for a normal/typical child. Now I count my blessings everyday especially when I look at my daughter (Björn’s older sister) and thank God for giving us the strength to get through every day. And for the support we have to get through the tough times when we feel stuck.
To all the moms/dads/sisters/families with a loved one with Hydrocephalus – you know that there is no cure only brain surgeries. We are so blessed and thankful so far that Björn’s shunt has been working for almost 2 years now without a problem. We know that in the future he will need to get new catheter’s and possibly a new shunt but we just keep on pushing forward. So just keep on going. Keep on to your faith and believing. And just pray! Pray for yourself, pray for your loved one, pray for people to come on your path to help and understand.
To all the moms/dads/sisters/families with a loved one with Joubert Syndrome – You are not alone. It gets difficult and tough but you have to keep on going for your loved one. God chose us special angels to look after these kids/loved ones. We are more special than the normal/typical people!
If you read this and you child/loved one has Hydrocephalus or Joubert Syndrome join the Rare Diseases South Africa family where you can get the support you need. We are only human and I believe no one is so strong that they can make it through without support from someone who really understands the circumstances / life challenges. God bless you all xxx
Love Bianca Scheepers