Good day to all you caring wonderful people out there
Our son Sammy was born with a condition called Pierre Robyn Sequence which is a condition that occurs in a sequence. The sequence of events starts with the jaw that stops growing and then there is a displacement of the tongue and tongue base which causes a cleft pallet. Little Sammy has all of these with severe glossoptosis (upper airway obstruction) due to his tongue and jaw. Therefore he constantly has a challenge breathing and feeding. Our two year journey have been a difficult and trying time.
Sammy was not pre diagnosed therefore we were unaware of his condition up until he was born. Sammy was immediately rushed to Neonatal ICU once he was born as he had severe glossoptosis which caused that he couldn't breath he was suffocating. He was put on a ventilator via a pipe through his nose to his lungs which functioned as a airway. His APGAR score was very bad and the doctors did not have much hope for him as he was critical. A Naso-gastric tube was inserted to his stomach so that he could start with fluids unfortunately that didn't go very well as he had bad reflux and they had to stop with the feeding for a while. An Umbilical Venous tube and Arterial lines were also inserted and he was placed on strong antibiotics and was also kept sedated. Range of tests and scans was done to exclude any further complications. Now it was only a sit and wait next to his bed and wait for him to get stronger. They tried extubating him a few times and everytime he didn't cope and they had to intubate him again. We were introduced to the cranio facial team at Pretoria Academic Hospital which started working with him to get a solution or a manner for him to cope. They wanted to do a glosopexy but that was ruled out due to certain medical factors. After weeks in the ICU he managed to cope on his tummy without the support of the ventilator and that was removed. he still couldnt cope when on his back so he was nursed on his tummy all the time. A feeding plate was made for him to close the cleft and help him to feed. Feeding was the next big thing as he was at that time only weighing 2 kg and we had to get him to gain some weight. I was introduced to the haberman feeder which worked great for him. the feeds was little and frequent as he had a challenge and got really tired when feeding trying to balance feeding and breathing at the same time. Shortly we were sent home with our follow up appointments at the clinic.
Sammy went for his soft cleft palate repair in September 2014. A few weeks later we ended up going for quite a few casualty visits as little Sammy would just stop breathing and then they have to support him with oxygen. We were then referred to our ENT doctor to evaluate him. Because he had collapsing episodes where he doesn't breath he was referred to Cardiology and Neurology as well. Our Cardio evaluation was good but there was signs that the heart isn't getting enough oxygen for it to function properly as the Cardiologist informed us after a 3D scan and ecg that he has some "atrial flutter" that can worsen and cause serious implications if the oxygen shortage is not resolved. Neurology went well an EEG, CT Scan and Sleepstudy was done. EEG cleared epilepsy and seizures that was amazing news. The sleepstudy revealed that he has severe obstructive sleep apnea which wasn't so good. The ENT evaluation concluded that his palate repair caused scaring therefore he is also now obstructed above his palate which is not good at all as this was the place that he relied on to breath. Our doctors are busy discussing possible solutions as they explained to us he is a "medical mystery" as they carefully have to decide on a procedure that will not further cause any problems. ENT is going to do a tracheostomy to cut off the obstructed areas and give him enough oxygen.
We are without a medical aid at the moment as I had to stop working as little Sammy needs 24 hour care and supervision due to his collapses. Our medical bills are pilling up and we need some funds to buy a suctioning machine and a oximeter as well as other medical supplies he needs. We have to this point used up all monies to our dispense therefore need some help urgently
We want to thank each one of you taking the time to support helping little Sammy and may God bless all of you as he blessed us each and every day by giving us such a special child and sparing our little miracle. No matter how tough times get we just look at our angel and the smile on his face makes us realise that there is bigger things out there we should just keep faith and keep on fighting as God have not forsaken us he is only making us stronger.
If you would like to contact us you can mail us at [email protected]