Struggling to piece this all together

It’s very difficult when my father is not very open or honest about his medical history.

It doesn’t mean we can’t solve it, it just makes it a little more difficult….

I’m very grateful that are trying to help, especially for the sake of my son David.

Hopefully, everything I’ve been through will help him lead a normal life.

Begin forwarded message:

From: teddyleigh
Date: May 20, 2013 9:26:41 AM PDT
To: Ryan
Subject: Re: Strange IBD blood test results

Ryan,

Thank you for your kind thoughts, and I’m excited about this new possibility.

Unfortunately, I don’t have a lot of my fathers records…he is not very helpful. His brother (my uncle) was much more open and helpful while he was alive, but I don’t have his records. His physician for 20 years was Dr. Judith Bus 604-681-9022 in Vancouver, B.C. Canada. I met with her personally myself. She was very mystified by my uncle’s case “we don’t know what’s wrong with your uncle”.

What I do know about my father:

* sinus infections
* heart disease
* mental health issues
* cancer (right now, he’s dying of stage 4 throat cancer)

My uncle (Robert MacKay) also had throat cancer at some point, as well as numerous GI diseases and conditions. He had had almost his entire GI track removed by the time he passed away.

I would imagine Dr. Bus would love to talk with you about his case–her husband is involved in research in some capacity, so she might feel the conversation would be of benefit.

I told her years ago I was going to try and find the answer to what was wrong with us…She would not be surprised by your call.

(I only tracked my uncle down in 2006 when my health problems got to the point of being disabiling–my parents divorced when I was 3, and I didn’t grow up knowing my father, and I rarely saw him, so I didn’t know a lot about him or his family side of the tree.

My uncle was so relived to have met me–he understood instantly why I had tracked him down. He gave me a signed copy of Grey’s Anatomy, and told me study it like a bible. He said he had spent many hours in the library trying to piece together what was wrong. He suspected it was something in our spleen.

My father is not a good person. He was violent, a horrible gambler and a pathological liar. That’s why it’s hard to get anything out of him–he knows I want the information, so it gives him satisfaction not to give it to me.

If it hadn’t been for my uncle, it definitely would have taken me longer to realize this was genetic…I asked my uncle once, at which point in his life did he know what was wrong with him was very seriously wrong–and he said “I always knew–because I watched my father go in and out of hospitals as a child, I just knew that I had the same thing too.”

His father (my grandfather) once had the rare bird infection, that normally only people with HIV get…then he died of colon cancer at age 46.

Thank you for continuing to look. I am about to be at the end of my rope…I am exhausted from fighting to stay alive all the time. I really would like to solve this for my son. If you ever email me, and dont hear from me, try l_nelski (this is my son’s father). My silence means my time has come.

Warmly,
Tara

On May 20, 2013, at 8:47 AM, Ryan G. wrote:

Hi Tara – How are you? I hope you are well.
Last I mentioned, we checked other genes are found 1 possible candidate that you and your son share. Based on the family information I have, it was suspected that your father is also affected. We checked this genome and did NOT find the mutation. So we are not sure if your father is truly affected or if the mutation we found is the causal mutation. Has your father gotten his medical records together in the same manner that you have yours? Having this information would help us determine how real this new candidate mutation is.

Ryan

On Fri, May 10, 2013 at 4:54 PM, <teddyleigh> wrote:

Thanks Ryan. Thank you very much for continueing to look at possibilities.

Warmly,
Tara

On May 10, 2013, at 10:39 AM, Ryan Golhar <golharr> wrote:

Hi Tara – We have a new possible candidate mutation that we are looking. I’ll keep you posted on how that turns out.

On Fri, May 10, 2013 at 4:11 AM, <teddyleigh> wrote:

I had this blood panel done (mostly out of curiosity). I do suffer from chronic constipation, but I absolutely have *none* of the symptoms of Crohns.

The lab who did the test, came back with a diagnosis of Crohns (and not ulcercolits).

Given that clinically I dont have Crohn’s, I feel like this panel might be picking up on something going on in my immune system–I’m going to ask to have my son have this blood panel done as well.

What do you think of these results, in absence of any clinical Crohn’s disease? What do the mutations mean? (Why is one you’re supposed to have the mutation, so it’s marked as abnormal that I don’t have it?)

Thanks again for everything 🙂

About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends who’ve supported me and for access to literally millions of dollars worth of medical care. I’m not the bubble child, I’m somewhere in between.
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