Grrrrr!!!!!

i3ai3ydanny · #1 May 16th, 2011, 09:53 AM

The geneticist called today. The genetic test for SDS was 100% normal. He has no gene mutations in the genes that they know of. I don't know what the GI wants to do next. I called and left a message for the nurse to see if she will at least give me a bit of direction on what the plan is. Danny also saw the nutritionist this morning (in the GI's office) and she said that based on how much he is eating he should be gaining .65 pounds every week. She suggested doing a gluten free diet because she has seen many people come in with no gluten intolerance symptoms other than malabsorbtion (even a normal scope and biopsy) and they will start gaining weight normally after the gluten free diet is followed. The rotten part of that is that it takes at LEAST six months on the diet to guarantee that it is not working. I am hoping that the GI will do other testing to rule out other causes of malabsorbtion before having us do the diet. I really don't feel like waiting 6 months to see if cutting something out will help is a good idea. We have been gluten free before and didn't really have any reason to continue it. It made no difference in Danny's health and growth. She said to look into broad spectrum allergy testing to try to find any other foods that could be causing digestive problems. She said, "You are doing everything right. He should be growing but he isn't."ARRRRGGG!!! I am so tired of hearing that. If I was doing everything right then I would be pushing you harder and harder to find out why he isn't growing even with plenty of food in his belly!

Sorry...I am really irritated over this. I don't know how the negative gene is going to go with the new GI. She told me last time that he has only had one significant episode of neutropenia. That doesn't really matter since that was found by a fluke and we have only been monitoring for it since late Jan, early Feb! Doctor's really don't get the frustration that we have to deal with...

dalyn2731 · #2 May 18th, 2011, 11:36 AM

Sorry , I know how frustrating it is when you just don't know. People always tell me well he doesn't seem unhealthy just small so be happy for that , and I am but if he is eating why isn't he gaining and if he isn't eating why isn't he hungry??? I am going to the GI today so we shall see. My son is almost 6 and weighs less than 40 lbs he is in the 8th percentile he used to be in the 6th but he also used to be in the 13th. I guess as long as he isn't sickly i don't want to poke an prod him too much but like u I would love to know what his deal is .... Hope the GI calls back and has some ideas that will make you feel better

i3ai3ydanny · #3 May 18th, 2011, 11:40 AM

I won't hear back from the GI for a few days because the doc has been swamped and the nurse has had jury duty all week. I did get WONDERFUL news yesterday though!!!! Danny's referral for Cincinnati was APPROVED!! We go in on June 24th to see at least two doctors. I don't know what they will do from there but we are finally going to able to go!!!

dalyn2731 · #4 May 19th, 2011, 05:28 AM

Well thats great!!! What is in Cincinnati ?Colin gained 2 pounds since his last GI visit in March and is finally moving in the right direction he was 36.38 pounds and in the 6th% now he is 38.36 pounds and in the 11% ....he still eats well only sometimes so in a way I know nothing more than I did then but I can't go there, just got to look at the good.

i3ai3ydanny · #5 May 20th, 2011, 10:24 AM

Cincinnati Children's Hospital Medical Center. They are one of the two hospitals in the country that specialize in treating SDS and SDS-like illnesses. Danny at least has the SDS-like illness and possibly SDS.

SDS stands for Shwachman-Diamond Syndrome. At the most basic level...his pancreas and bone marrow don't work, but there are pretty much limitless complications with infinite severity. We have been lucky so far though. He has only had minor to complex issues...no severe ones other than the not gaining weight even with the right level of enzymes.

Ditzzy · #6 May 23rd, 2011, 05:23 AM

Awww.........This sucks! Ava's SDS test was normal too but that doesn't stop her from having all the symptoms, including reoccuring neutrapenia. It was under 500 again last month. She is SDS-like, but they think her bone marrow is effected by her primary disease.

I'm so glad he's going to cincinnati!!I truly am sorry this wasn't your answer 100%. I would wait for any drastic diet changes until after June 24th. What doctors are you seeing? Ava might see them too.

i3ai3ydanny · #7 May 23rd, 2011, 08:48 AM

Mithkie I think is how you spell the GI one and Dr Harris for Hemat/Onc. Mithkie's office has already called to cancel the appointment but Theresa is working on getting it rescheduled. I am not making the diet changes. He didn't do any better with milk 100% out and didn't do any better at all with gluten 100% out for a month last time. I don't see the point in testing for more food allergens because to test for everything would take a few weeks because his back isn't big enough to test for more than 20 at a time. The nutritionist kept contradicting her solid statement of "I don't want to limit his foods anymore than they already are." Really??? 100% cut out milk, gluten and look for more food allergies. Does that not 100% contradict her statement? Gee wiz. I am getting a letter typed up from his local hemat/onc so that when we go to Disney the 27th-4th we will have a protocol to give the ER if he gets sick or anything...