Ruch had the nissen funduplication and gastro tube operation at a year and three months due to a massive acid reflux.
She is now almost thirteen years old.
She does gag sometimes and we then open her gastro tube to release the pressure, but has never manage to actually vomit since the operation.
We have had to give her two medications to relieve the acid. She gets both Zantac and Lanton twice a day.
Karen (Ruch's mother)
Ruch i now almost 13 yeas old and she does eat by mouth now. She did not really eat anything through her mouth except to occasionally taste food until she was three years old. From age three until age eight she got part of her calories through her mouth and the rest through her gastro tube. Suddenly she began to like eating food at around age eight. She started gaining weight so nicely that we only give her extra fluids and medication in the gastro. (We occasionally have to go back to gastro feeding when her biting gets out of control.) Ruch has been on a dose of 45mg of Zantac syrup twice a day for years. I am not sure how much she weighed when she started getting that dose but it has been YEARS. She has also been getting 15 mg of Lanton twice a day. That we have to give on a spoon of yogurt or she has to swallow the capsule but she dose not mind and usual takes it nicely. The doctor said it was a problem making Lanton into a syrup or giving it in the gastro.
We do not live in the USA. we live in Israel. as far as we know we are the only case of LNS in the country. Ruch is treated at the Shaare Zedek Medical Center in Jerusalem Israel.She has a fantastic group of doctors who take wonderful care of her. Thankfully she has had very few gastro problems since she has been on the medication. Her only problems are reoccurring infections around the gastro tube. So we have not seen her gastro doctor in over a year.
I would definitely try medication first before considering surgery again.
Let me know what happens and I am willing to answer any questions you may have.
I forgot to mention since age 9 month she has been on a medication to prevent her from vomiting. It is very expensive and we had to get special permission for our health insurance to cover it but the hospital helped us with it. It is called Granisetron. She gets a small maintenance dose twice a day. 200 mcg in the morning and 120 mcg in the evening since she has less of a tendency to gag at night. It is not available in Israel in syrup only in IV. So we have a pharmacist mix it every two weeks and give it through the gastro.
Children with LNS should not take other medication to prevent vomiting like dramamin it can cause neurological complications!! That is why our health insurance covers the cost.
Hope this is helpful
I know how frustrating it can be. We have been dealing with all the complications for years. I always feel I have no good choices. It is not choosing between what is good and what is bad, only what is a little less terrible. These meds have really helped our Ruch. I hope they will be available to Gabriel and that they will help. We have been very fortunate with our doctors. Even though there is no one with experience here with treating LNS they have really managed to help us. Are there any doctors in your area who have treated a LNS case before. They may have more experience and know of more options.
If you have any other questions just ask and I will do my best to reply.
Ruch has been taking the anti nausea medication since she was 9 months old. We did not stop giving it to her even after the surgery because she has always had a tendency to gag and vomit. As she got older she would tell us she was nausea and we would increase the medication a little. But She is now on the same dosage she has taken for years.
We did stop the Zantac and Lanton for a few years after the surgery but a few years after the surgery she was crying of stomach pain and they took a sample of her stomach fluids from her gastro tube and it tested very acidic. Even though she could not vomit and the esophagus was protected she was in terrible pain. For a while Zantac was enough but after a year or so she was again in pain and even with the Zantac her stomach fluids were very acidic so they added Lanton. At one point we tried to take her off Zantac and leave her with just Lanton but she was in pain and her pH was very low in her stomach so her doctors came to the conclusion that she is one of the few cases in the world that really needs both Zantac and Lanton even after having the surgery and still not being able to vomit through her mouth.
The operation is to protect the esophagus from being damaged from the acid reflux and to prevent vomiting. But it does not stop the stomach from being acidic. Ruch is not only missing HPRT but because of her specific mutation she has no enzymes that break down acids in her body. Because of this she went into total renal failure at age two months old because her kidneys were clogged up with uric acid. Something extremely rare even with LNS.
As I mentioned with all three of the medications she has been stable for years with her gastro problems. She has learned to enjoy eating though her mouth. She only sees the gastro doctor when she gets a serious infection around the gastro tube.
She still has very serious renal failure and all the complications that go with long term renal failure. She is in the nephrology day hospital one day every four weeks for tests and treatments. She also has all the neurological issues that LNS children have.
But despite all that she is mainstreamed in a regular Junior High and has made a lot of new friends this year. She is a happy social young lady when she is not trying to hurt herself.
Hope you find some good solutions for Gabriel.
Another ideas to help feeding. We were always told to open the Gtube and release the pressure in the stomach before hooking her up to the feeding pump or giving her medication in the gastro. If she was a little nauseous this would let her"throw up " through the tube and would take the pressure off the esophagus and also relieve the nausea before the feeding.
When ever she would shows signs of needing to vomit we would immediately open the tube into a paper cup or something and release the pressure that was building up in the stomach. The doctors told us that this was very important, not to let the pressure build up and tear the esophagus or the fundu operation.
Hugs to Gabriel and to You!! hang in there!!
Wish we could meet to but it is so far away