Sometimes, I’m just amazed how random strangers understand what I’m going through and dealing with, more than people who have even known me for years.
I got an email from the immunology researcher at CHOP, that brings tears to my eyes.
Humanity at its finest.
Begin forwarded message:
Date: February 21, 2012 7:54:15 PM PST
Subject: Re: Netherlands testing options
Thanks RG Your email brings tears to my eyes. You’re right–I am the only person who truly understands what David is going through. And what’s part funny, part heartbreaking, is that David already, intuitively understands me too.
When he was only 5 years old, I had an attack of stomach pain so bad while I was driving, I had to pull off the side of the road and half crawled into a 7-11. Due to necessity, I’ve learned to become my own best doctor (marginally successful, as I was an English major),
but I knew enough to know the pain was most likely only severe gas, even though it was crippling nevertheless.
So I crawled into the store “do you need me to call 911??”, I swallowed a bunch of malox, waited for the pain to subside enough so I could drive again, and then pulled myself together enough to get us home.
Once home, I collapsed for a few hours. Once the attack had passed, I came out to the living room, where David was sitting quietly watching television.
Awkwardly, I apologized for what happened…”I’m sorry about that David. Mommy wasn’t feeling good, but I’m ok now.” I always try to keep the worst of it away from him.
And little five year old David, looked me straight into the eyes, and said,
“No I’m sorry. You’re sick Mommy. You’re just sick.”
WTF? Here I spend most of my time beating my head against the wall to get any kind of dribble of help from doctors, and my *five* year old son gets that I’m just really sick?
I’ve always known my son is very smart, but I learned that day how intuitive and compassionate he is too.
You’re right. I have to stay strong, as long as I can, for David. That’s the reason I’ve even made it this far. It would have been a lot easier (and probably 2 million dollars cheaper) to have died awhile ago….
I’m sorry to hear about your friend. As I’ve heard from a number of immunologists on the east coast, Los Angeles isn’t the greatest place for unusual cases. Maybe the sunshine here breeds a little too much superficiality.
I understand there’s only so much you can do, but I just want you to know how much I appreciate everything from deep down in my heart.
On Feb 21, 2012, at 6:55 PM, RG wrote:
I promise you we will do everything we can. As soon as we get the blood, I will push it through.
I had a friend in LA who passed away a few years ago. The doctors were never able to determine why. She was only 27. You and David have a different case. There is a clear genetic link. I feel very confident we can track it down.
Stay strong. You are the only person that understands what David is going through. Stay strong for him.
On Tue, Feb 21, 2012 at 9:36 PM, Teddy wrote:
I agree *completely*–let’s wait and see what you’re able to find–
Thank you for taking the time to explain this to me…so much of the description of these tests are beyond my comprehension–It’s made it very difficult to try and figure out what the best approach is for David and I (and a lot of doctors don’t understand immunology tests either).
It sounds like, what you’re doing is the best in the world–if medicine is able to find it, your experiment is the one, because it’s the most thorough I’ve ever read about. If it can’t be found right now, then we’ll have to try again in a few years….I’m optimistic though 🙂
I will definitely send your contact information to the people closest to me, in the event something happens to me while you are in the process, so they can contact you about final blood samples, if it’s needed–
(I’m now even in worse shape…years of IV antibiotics are taking their toll. I’m a fighter (being Scottish descent can come in handy sometimes :), and Dr. Sh is always joking I’ll pull through for a long time, but this time something feels different (I’m having strange stomach swelling)—that’s why I apologize if I sound manic–I just want to at least get the ball rolling, so when I do finally pass on, it will be easy for people who care about David to keep finding the answer going until its solved–
Being ill for years, and surgeries, etc, just wears on you…I’m hoping I’ll get IVIG regularly, which will definitely help extend my life expectancy, it’s just frustrating dealing with insurance companies…especially since my case doesn’t fit an established profile.
I know you have children who are in even more dire straits, but I really appreciate what you’re doing for David and I.
I really want to spare David what I’ve been through.
Thanks for being you. I’m very grateful you went into immunology research.
On Feb 21, 2012, at 6:08 PM, RG wrote:
Yes, they are going to test a few genes to see if they functioning properly or not. The lab wants information because they need to narrow down which genes they should test based on your clinical information. Its essentially a shot in the dark with a bit of an educated guess.
The approach we are talking is to look at all the known genes (including what they are looking at) and determine which ones are functional and which ones are not or may not be due to a mutation or set of mutations. Let’s say we discover a 3 or 4 genes, that together, cause your immune system to not respond properly. We will then test those specific genes using a functional test to validate our findings. Our approach is more guided, in that we will know up front what genes to test. We are doing this currently with multiple families with rare genetic diseases.
Lisette mentions at the very end they will be able to do something like what we are doing at the beginning of 2012. It may not hurt for you to pursue it, but it is almost exaclty what we are doing. It really depends on how many times you want have blood drawn.
Why don’t we see what comes out of our test first and hopefully that will give some guidance on how to proceed?
On Tue, Feb 21, 2012 at 7:16 PM, Teddy wrote:
Here is the attachment of the tests they offer–any thoughts on what would be the best ‘shot in the dark’ would be very much appreciated 🙂
(I’m also forwarding you a little of the correspondence forwarded to me–the lab asked questions to dr Sh that he needed me to take to my other doctors to answer–)
Thanks again for your help. If you think any of these tests might shed any light, please let me know–