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FYI...copy and pasted from an email. I hate typing out long things twice...
I wanted to take a minute and update you on what has been going on with Danny.
His GI ordered another blood test on Feb 10 that was suggested by the Children's Hospital in Toronto, the hospital in the lead of SDS genetic and diagnostic research. His GI had told me at our last visit, Feb. 10, that if this test came back further indicating SDS, if Danny had more neutropenia (low white blood cell counts) or if his genetic test came back positive then he would diagnose Danny officially with SDS. We went in this morning for the test results and the levels gave further indication that Danny has SDS. However, Danny's doctor has now flipped and wants more testing and results or more symptoms before diagnosing Danny 100% with SDS. I tried asking several questions this morning but the doctor was frazzled so I eventually stopped asking for clarification on what the course of action is going to be. I called the office later this afternoon and the nurse said he will likely not be able to call me back until Monday but that he will discuss the details of what he plans to do then. Please pray that he has a solid plan and sticks to it, because this back and forth is really weighing on me.
Danny is still not growing even with raising his enzyme supplementation. The doctor has added an amino acid based, higher calorie pediasure-type drink to hopefully boost his calories and as a result help him gain weight. The doctor dismissed my concern about him not gaining because it is a symptom of SDS even though he won't officially diagnose Danny with SDS. Most children with SDS, even with enzyme supplementation and a high calorie diet will rarely stay on the growth charts, and Danny is once again falling off the growth charts (weight-wise only which is why he is thin and tall). It seems at this point that we will be going to Cincinnati Children's Hospital eventually but his doctor also has a personal bias against that hospital due to the only other patient he sent to CCH. Please also pray that he will overcome this bias so that Danny can have the best possible care. There are around 600 cases of SDS in the US and around 80 of these cases are treated at CCH.
Danny has an appointment with a Geneticist at UT on April 19th at 9:15 It seems like the GI is really weighing his decision on what to do based on the results of genetics test which will take an additional 2-6 weeks after the test is ordered just to have the results, let alone get an appointment to have them discussed (right now they are scheduling out 6 months). Please pray that God's hand will move in this situation and put the things into motion as he sees fit. Pray that I will have peace and acceptance of these circumstances and that God will continue to bless Danny with a strong and loving spirit that has brought him through so much already.
I also want to reiterate that if Danny has a fever, I need to know as soon as possible. If he becomes lethargic or just acts sick I also need to know as soon as possible. Anytime he is ill he has to have a CBC and if the infection is bacterial he needs high dose antibiotics as soon as possible. I know this sounds odd but even when his white blood cell counts are where they should be he isn't fighting infections as well which is also a sign of SDS. His white blood cells are "slow to respond" to the impulses that they are needed. The white blood cells get to the infection late and don't work as hard to fight it. It is like having a fire alarm go off at a fire department but the firemen's alarm system isn't working right. They get the message after the fire has engulfed the house then they decide to use a garden hose to put out the burning house. I hope the analogy makes a bit more sense than the actual description does.
end copy and paste.
I am so sick of someone saying one thing and then changing their mind. It is sooooo frustrating when someone tells you if x happens y will happen and then just throws z at you with no warning. I just want the answer at this point. Danny has nothing that doesn't fit with SDS. He has poor/no weight gain, pancreatic insufficiency, abnormal blood enzyme levels, frequent respiratory illness, doesn't respond well to enzyme replacement therapy, diffictulty fighting infection, frequent infections, cyclic neutropenia (2 out of 5 CBC's he has had done since 2/2/09 with the GI), and anemia. What more does he want to see before he diagnosis Danny? I am just getting so tired of feeling pushed around. I asked several questions with percentages that HE TOLD ME last visit and he said that my information wasn't accurate. Talk about one unhappy mama... I would just go to another GI but the other two in knoxville are NIGHTMARES and the next closest one that I have had recommended is over an hour away. That isn't much except that I am a full time student and due to Danny's illnesses and doctor's visits I have already exceded my number of allowed absences for the entire semester...actually I had done that by the end of February. I have to appeal them already but the more class I miss, the more lost I am. I just wish people would screw thier heads on straight.
Again, please don't mention any of this on FB because until we know 100% that he has SDS and he has the official diagnosis we don't want to worry about explaining everything to family members...
I'm sorry you're not getting clear answers or a clear plan. I'd be upset too. I think a genetics Dr is a good way to go. I have to say I don't care for your GI Dr, he keeps stringing you along. I'd make an appt at CCHMC for a consult. If anything, they can work with your UT Dr and advise. kwim? Have they done any imaging yet?
As far as CBCs go, Ava had a running order to get them weekly for months. It sucks.
I'm so surprised how lax everyone you deal with is about this. It's so different that how everything was handled here.
Thank you, tasha_mae, for my siggy!
Last edited by Ditzzy; March 11th, 2011 at 10:07 AM.
The problem is that I have to have a very compicted referral to get to an out of state Dr as Danny has Tenncare. I can't see anyone at Cinci Childrens until the GI, his allergist/asthma dr, and his ped submit referrals but this all hinges on the GI. I think I will push him more monday when he calls and find a way to get him at least scheduled for a consult in cinci which I am assuming will take a while to get in for anyway. I don't like the ped GI but the other two here in knoxville that accept ped patients said he was fine all along. Vomiting 12-15 times per day, diarrhea at 2.5 years...that had never gone away... and losing weight with recorded intake of 3000+calories per day was "just how he will likely be." This is the last GI in knoxville and the only one that recognized that something was wrong. I really don't see what he is waiting for on this though. I am hoping that if I push for a referral to cinci that he will start the process for me. If he won't then I will let him know that I will have to start looking around for other GI's that will be an hour or more away that WILL get the ball rolling on this.
The only imaging he has had done is a bone age test done when he was 18 months old. It showed a 12 month bone age but the endo said as long as it is a 6 month time frame it was fine. I thought that was quite rediculous because they never repeated it even though he was on the 6 month edge. I mentioned the pancreatic and liver enlargement issues and he said that he had no signs of pancreatic inflamation and felt to make sure his liver wasn't enlarged. He knew about the fatty issues that are possible with liver and pancreas tissues but didn't mention anything beyond he doesn't see that as an issue based on his symptoms. I am really getting more and more irritated the more I think about everything that has happened over the last three and a half years. I just want him to go to cinci for at least a consultation and then based on what they find we can go from there. I will keep the GI here but want an expert with SDS which is what I will get in Cinci. Maybe once I graduate I can just move to Cinci area if I can find a teaching job there so that we don't have these issues with out of state type things... I have family there so if Danny got sick I am sure it wouldn't be an issue for them to help me out. I am just so over everything that is happening here doctor wise...
wow that is SO frustrating. I feel for you with the drs and all the tests. I wish you had more answers. What he's doing is NOT norml. I HATE it when drs just push you off and act like it's you and you're crazy. Ugh! I sure hope something cracks and you find out once and for all.