Issues we've seen are constipation, dysphagia, feeding difficulties, reflux. These are the most common. Hard stools and cramping are common. Treating early and properly can take care of almost all the issues that patients suffer.
In 1p36 Deletion patients that suffer Chronic Constipation sometimes don't want to have a BM and they pull their anal sphincter shut. This is a behavioral issue. This is where the pain begins. Often, laxative is enough to help this. Laxatives are very safe treatment even for small children. Don't stop treatment when the child gets regular, because you're helping overcome the behavior aspect of the problem.
Miralax is a very safe laxative that can be used without fear of addiction or electrolyte imbalance. Helps to balance the system and lead to greater comfort all the time. Mineral oil is another treatment that must be used with more care. It can have some other effects.
Prolonged use of Miralax may indicate a bigger problem that may stem from connections of the nervous system and the colon. Miralax can be safely mixed with about anything. It's tougher to get it dissolved in milk.
PEG 3350 is a fiber replacement that can help. It adds dietary fiber to assist in keeping kids regular. Adding fiber only helps about half the patients. Benefiber has soluble and insoluble fiber to help keep stool soft but also have bulk to allow it to pass.
Pyloric Stenosis occurs in some 1p36 patients. It's also a nerve connection issue. Can lead o failure to thrive.
Swallowing is the most challenging neurological thing we do. It's tougher than walking or talking. Learning to swallow can be difficult, but it's essential. Typical children learn to such and swallow in the womb. 1p36 children have to learn to swallow with assistance. Sometimes, 2 to 4 month olds actually develop swallowing issues because of the growth of the throat and change in voice box position.
Reflux is another common problem. Some spit up and some don't, but either way, stomach fluid leaks into the esophagus. The stomach is always moving and neurologically the valve at the top of the stomach may open when it's not supposed to. This may be a neurological problem too. Prevacid is a good way to handle pain from reflux and tastes pretty good for children. Some recent studies show that Prevacid doesn't change the amount of reflux, but it does help with the pain and discomfort associated with reflux.
If a child is eating enough, has gurgly burps and isn't growing. The child may be aspirating and the energy is going to fighting inflammation in the lungs. Don't give up in working on your case. Make sure things get addressed so the child can grow and be as comfortable as possible.
A note about Gastrostomy tubes for feeding. This is very sensitive, but one thing is certain, it's better than having a nasalgastric tube in the back of the throat for more than a month or two. If it's going to be a longer amount of time, a G Tube may be very helpful.