OTHERS

Isaacs Pierre Robin Sequence Journey

Rare Disease & Syndrome

Sonia Patricia Heslop

What is Pierre Robin Sequence?

Pierre Robin Sequence (Pierre Robin Syndrome) is a very rare genetic condition that around only 50 babies a year statistically are born with. This is where their chin is underdeveloped (micrognathia) and the tongue is placed further back (glossoptosis) and there is a blockage (obstruction) of their airway. In tow with this is also a cleft palate (roof of your mouth).

Our Journey With Isaac

Isaac was born late by 5 days with a spontaneous labour starting in the KFC drive thru. After two hours of labour, Isaac was born with his dad, nana and grandma waiting for him in the delivery room. But we had a problem before he even exited the birthing canal. The umbilical cord was stuck around Isaacs neck, tightening as he descended. The emergency button was pulled, Isaac was whisked to the side while we watched, which felt like hours. He was given pediatric resuscitation and rescue breathes and then placed on my chest.   A few hours after birth, Isaac wouldn't latch to the breast or a bottle. Every midwife we saw during the night blamed this on his tongue being tied. His tongue kept falling back. You could see his face didn't look like a normal baby's face.   Eleven hours later a peaditrican did his newborn check. She used a metal and what I say speculum and pried my son's jaw open and told me he had an incomplete cleft palate of the hard and soft. He received a nasogastric feeding tube immediately.    We were transferred to the birthing ward and all the midwives were amazing to us. The next day a cleft nurse tried to feed Isaac who noticed he couldn't coordinate and was turning blue. We were then informed he had Pierre Robin Sequence.

Our Hospital Stay

Isaac never went into the neonatal unit, as they had no room for him and couldn't transfer him to another hospital as was too risky. We were placed on the normal cleft ward, shown how to tube feed and position him for his breathing. After a short eight days we went home. Life was great, we had a new baby and our daughter was a big sister. It was wonderful, but scary. We couldn't do much as Isaac could only manage 10-15 minutes in a car seat before his oxygen levels decreased.   Our bubble ended after six days. We went back to the hospital due to constant vomiting and blue spells, and from then, I begged for him to have a tracheostomy and a g-tube. He wasn't able to breathe properly, even upright in your arms he was turning blue and struggling to breathe. He was struggling massively to gain weight, but they all refused.   We spent another four months in the hospital trying different techniques to keep my son alive. He would stop breathing, his heart stopped on occasions, he would have up to 38 apnea attacks a night, he would lose consciousness, he would just deteriorate in any way he could.   At five weeks old he was taken for his first emergency operation as his airways kept closing. This procedure required Isaac to have dilation of the nasal passage for his nasopharyngeal airway. After that I learned how to change and make the NPA (nasopharyngeal airway) and pass the NG feeding tube so that my baby could come home, which he eventually did.

Cleft Palate Repair

Isaac had his cleft palate repaired on 19th April 2017, exactly one year after his first birthday and that by far was one of the scariest moments of my life. The repair didn't go to plan for him. During the operation he struggled to breathe and required going into the pediatric intensive care unit with a new NPA fitted, on oxygen and linked to lots of machines. It had been seven months since he lost the NPA and six for the NG. At one point in the hospital, the nurses had been breathing for him for two hours and they were ready to incubate him. Isaac being the joker he was, sat up and looked around, so they reduced his morphine. It took him four more days or so to wake up and then his big sister came to see him, which was the best moment of that crazy time.

Two Years Down The Line.

Isaac is now two and a half years old and one year post cleft palate surgery. He still struggles to gain weight, struggles to grow, has chronic otitis media effusion, moderate hearing loss in both ears, he's non-verbal, has a form of rickets, social autism, global development delay, lose and weakened joints suspected to break at anytime, chronic heart defects (atrial septal defect, patent ductus arteriosus, patent foramen ovale), persistent left sided superior vena cava (SVC), post traumatic stress syndrome and is a SWAN (syndrome without a name). He still sees his cleft surgeon, cleft nurse, speech and language therapist, pediatric psychologist, health visitor, general practitioner, genetics and orthotics doctors.   He just had his third operation and booked in for his fourth operation to have multiple teeth removed of what we know, but this one will  be his riskiest one.

Our Now Life.

Isaac is in pre-school, he knows makaton, has such a big personality, does everything nearly what we were told he would never do and biggest of all, he has been a big brother for nearly a year.   No matter what gets chucked in his stride, he takes it on his chin and gets up and goes about his life, being the best, amazing, loving, handful of a little boy. And if someone had told me this two years ago when I was in a place I never thought I would be, with a child I didn't know was going to live or not within that same day, I wouldn't have believed it.   Life has a funny way of throwing things at you, but I have realized, we only get dealt what we can handle. And if you're a new PRS, cleft, CHD mama, then believe me when I say, you can do this. You are amazing and all your worries will sure as hell be worth it.   Love to you all! Isaacs mum,  Sonia  x

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