Well, had my infusion yesterday and saw the immunologist's FNP who is a very nice gal. She went through all my ailments etc and then she told me something she had been thinking about for a long time. She said that everytime I come for infusions she and the other 2 docs talk about my case.Yesterday was my care conference day and she was going to present to the 2 docs the theory that she has been pondering over concerning me.
She wants to do genetic testing on me for DiGeorge Syndrome which involves chromosone 22.11 -- the simplest way to explain it. She said that there are so many shapes and forms of the disease but considering all my problems plus the fact that my 3 sons all have issues she thinks it is worth while checking it out. I am hoping this is not the case as some of the symptoms are mild to severe heart issues. Our youngest son wants one more child and that will muddy the waters for them.
I will just let you google this if you want to. I am just going to go with the flow and not worry until I find out the answer to the testing. I just can't imagine how much this will cost and am wondering if insurance and medicare will pay for it---didn't think of it while I was at the office.
Also, I went to my pulmonologist on Tuesday up in the cities and I will be getting a CPAP. I didn't have a lot of stuff show up but I do have hypopnea during REM sleep and I have 02 sats(oxygen levels) that went down to 87%. It was labeled as obstructive and that makes sense as I have the relaxed muscles in my soft palate. I can even see the relaxation in the muscles when I look in a mirror with a flashlight. This will make 3 appliances that plug in that I have to haul with me when I go anyplace. My Vest, Nebulizers and CPAP. Hubby told me if he unplugged me he thinks I will die. That was a little joke, doncha know!!!!!
I also think that Medicare and insurance are paying for the Vest as I got one of those invoices that show what is being paid for medical services and it looks like the Vest showed up as a monthly payment.
In spite of all the ups and downs I have the FNP said that I am doing well. Still have infections but they seem to not get so bad. I told her about starting the Neti pot and the horrible smell in sinuses, etc. She said that is why the docs refer to the sinuses under the eyes as the "sinus toilet". I imagine all the rotten stuff settles there and doesn't drain out very well. I am really sold on the neti pot. Wish I had gotten one sooner. Hope everyone is doing better now that the weather has cooled off. It is such a blesses relief. Irish ;D
Irish, I'm not sure whether you think of this as good news or not! It's good that your doctor is thinking outside the box, and checking for something that doesn't jump out at you...of course there's the down side of the effect of a positive result will have on you and your family. You've never mentioned any of your children or grand children having congenital heart problems or cleft lip or palate issues, so, at least from that aspect it sounds like your family has avoided those DiGeorge problems, but the autoimmune, gastric, emotional and parathyroid issues are naturally concerns too.
Di George (aka Strong or Velocardiofacial Syndrome) has so many possible effects on so many varied systems (depending on which chromosomal material is deleted), it's very difficult to classify. I would imagine that your doctor's are mostly concerned right now with the cause of your problems, but is there a plan in place to test your children if you do test positive? There's always the chance that you haven't passed the gene with the deletion on, especially if your husband has normal genes at the 22 sequence.
Is there any offer of ongoing research projects or foundations who will assist financially if your insurance balks? Please keep us informed, it would be so great for you to finally have an answer to the cause of your many health problems.
Aww Irish my friend, my prayers are with you. I sure hope those doctor's appreciate all your time and effort to educate them. :D You have challenged them from the very beginning.
Take care dear and keep us posted on the testing.
Hugs and God Bless,
Pooh
Hi honey,
I am thinking of you and loving you and wishing all this to turn out well.
Janna
Irish, Take care of yourself. I hope that you do better with the CPAP than I do. I also hope that your health starts to turn around for the better.
Irish,
You are in my thoughts and prayers. Hope all goes well for you!!
Barbara
aka
Solmom
Hi Irish :)
You'll let us know how it all goes - won't you? I think genetic testing is the way forward and will help docs to better understand a load of stuff which will improve medicine for future generations. See yourself as a pioneer!!
Good luck with it all and take care - Scottie :)
Irish
My thoughts ans prayers are with you too.
Kathyx
Dear Irish, I wish you well on yet another journey in your quest to find answers to all your problems...
we will be with you all the way, God Bless and Good Luck be with you too..
Your a Star! Big hug, Dolly.
THanks for all the kind thoughts. I do not consider myself to be near as ill as a lot of people on this site. The fact that I don't have a lot of pain is certainly something that sets me apart from many of you. I do have aches and pains, etc and a type of pain that is hard to explain. I am sure many of you know the drill. Feel crappy and uneasy and just can't settle down to much of anything in life much of the time. It is like living on the edge in the recliner. ::)
I think the reason the docs wanted to do this testing was because of my kids. There are so many allergies and unstable thyroid issues in one son, another son has small jaw and has grown a beard since he has gotten older and gained weight. The jaw is less noticeable now. He also had asthma, eczema and lots of URI and was very frail as a child. Still has a lot of URI''s. His son takes after him plus had the bad reflux as a baby. This son also has the bad reflux as an adult and that is part of the sequence also. The relaxation of the pharynx muscles etc.
I have a cousin who had a son with both the cleft palate and hole in heart and both needed surgery. My sister has a small jaw and as an adult is missing 6 teeth which never came in. There are enough issues that it is worth investigating. Also, all three boys have lots of sinus problems and mucus issues. Soooo, will wait and see. Obviously I would be very happy to have the test be negative. If the test is positive I plan on having a good talk with the docs concerning a plan. I feel that the most important thing to be concerned about is grandchildren's ongoing health status, possible genetic testing of grandkids prior to having children and medical assessment and ongoing treatment of health issues for my sons. We have one son who plans on having one more child. That is what concerns me the most.
Also, the information talks about speech pathology in children and I have 2 grandsons who have speech issues. One will be starting 3 years of speech therapy next week. Life is sure interesting. Thankfully, we have not had any big time issues. Will let you know as this progresses. Irish ;D
Hi Irish,
Wow, girl, are you trying to come up with the oddest diagnosis's? ;) I'm just teasing, but I am concerned about you. How are you handling this? I'd be like a cat on a hot tin roof; whew, I can't imagine what you must be going through!
Please my friend, do be careful, and let me know if I can do anything for you.
Take care -
Patze
Irish,
Don't fall off that recliner ! Ms living on the edge. ;D
I believe as Scottie, so very well put it , you are a pioneer. So we will all circle our wagons around you in prayer. :)
kimbo
You gals are the best!!!! Plus you have such a great sense of humor----circle the wagons around me----that is a hoot. Do you know how many miles you would go just to get around me???? I am loading on weight lately and can't stop eating. Darn me!! and Darn the prednisone. Last dose of the extra 5 mgm every other day tomorrow. Yippee!!!
I have to admit that this stuff is crossing my mind now and again but I am just choosing to ignore it as much as I can. It would be such an enormous waste of energy if everything comes back negative---I don't want to send me into another flare as I just got over one. I'm wound up tonight. I think my TSH is too low(in other words I am on too high a dose of thyroid med) and I had TSH done today. It will not be accurate though because I have been skipping a dose every week lately til I get to see the doc on the 22nd.
These doctors just don't get it when you tell them that you can't tolerate the higher doses of thyroid. My son has gotten so that he goes and gets his TSH done and then changes his dose on his own and calls the doc. He is always right about what his thyroid is doing and his doc is finally starting to listen to him. Take care all. Irish ;D
Irish,
I would drive a million miles to circle wagons around you! Your hips have nothing to do with it....your heart is the big part of you dearest friend!
Irish, keep us posted on your genetic test.
We have VERY strong history of breast cancer in my immediate family. My Mom, sister Joyce and JOanne have already died. My twin sister got it and survived. I had my breasts removed but I still got the breast cancer. But, here I am 10 yrs. later.
We have many allergies and autoimmune issues in our family. LOTS of them. My two kids are both affected as well as my twin sisters's daughter and her 2 kids. Asthma, fibro, thyroid, eczema, SS, psoriatic arthritis, and RA.....probably more I can't think of.
I'm interested in your genetic test. Keep us posted cause I may ask for the same thing. Thank you and blessings to you, my friend.
Circling wagons for ya! ;)
Irish
I am thinking of you, and hope you find out some things to help.
susanep :)