Genetics Journey at Children's St. Paul

This past weekend Jason and I took the boys up to St. Paul MN for a visit with a geneticist, Dr. Mendelsohn, who was referred to us by our neurologist, Dr. Doescher. We left on Sunday, and our appointment was on Tuesday.

I want to start by saying the appointment went GREAT! Even prior to the appointment, I had a lot of contact with Dr. Mendelsohn's genetic counselor, Janice. They really did their research and background check before we got there! They wanted to make sure we got a lot out of our visit because we had traveled so far. So going in to the appointment, we were already all on the same page.

Just like the doctors here at Sanford, they listened very intently to us and really took their time getting to know the boys. Some AWESOME things came out of this initial appointment!

1. Back when Aidan was first born, he did the Full Lissencephaly panel through the University of Chicago. Well, since then, two more genes have been added to that panel. Aidan was never tested for these genes. Aidan had more blood drawn and will be tested for these two genes! The genes are TUBA1A and ARX. These also happen to be two of the genes that Dr. Weimer suggested the boys be tested for. (Dr. Weimer is the woman who is here in Sioux Falls, SD studying lissencephaly) Progress! It will take 4-6 weeks to hear back on these results.

2. Dr. Mendelsohn is pretty confident, just as our doctors here in Sanford are, that their condition is autosomal recessive inherited or x-related. One of the genes Aidan was tested for, ARX, is an x-related gene...meaning this would be a condition that would only occur in our MALE children. Therefore giving us a 50/50 chance of having an affected child. The autosomal recessive inheritance would mean we had a 25% chance of having an affected child. So Why? Why would this happen back-to-back for us? 100% of the time? Well, no matter what the gene - it was just pure coincidence/luck. I like to call it luck because we are LUCKY to have our baby boys.

3. Like I mentioned above, Dr. Weimer listed about 10 other tests she thinks the boys would benefit from doing. In order to help us 'rule out' looking into some of the other genes, Dr. Mendelsohn tested the boys' thyroid levels and their CK levels. Increased CK levels in their blood would suggest they have something muscle related. We are trying to rule out having to test for some of the genes that cause eye, muscle, & brain related syndromes (such as Walker-Warburg Syndrome). We are pretty sure the boys do not have an eye, muscle, brain syndrome based on what we know...but this will help us be sure. I was told today that the thyroid test came back normal. The CK test results should be in soon.

So, we feel great about our appointment up north! We never felt like Sanford wasn't helping us enough, we have just always felt like the more eyes/ears that are involved in our boys' life, the better. So we are happy that Dr. Mendelsohn and Janice have joined us on our journey for answers. They said they are very committed to helping us get answers, and to helping us to someday have a healthy baby.

Now to backtrack a little.

Christopher Walsh Lab (Harvard) Boston:

I mentioned before that Dr. Weimer has been in contact with the Walsh Lab. They were interested in looking at the boys' records. I have spent the past month gathering records to send to Dr. Dobyns. However, things have moved very quickly with the Harvard lab. I have been in contact with Dr. Weimer, and a researcher from the Walsh Lab assigned to the boys. They have been extremely helpful in getting this process rolling, and answering all my questions. Instead of sending the boys' records off to Dobyns, I sent the stuff to Boston. The people at the Walsh Lab seemed SO VERY open and willing to talk to me and to help us. That type of reception has made us want to work with them even more. We hear over and over that Dr. Dobyns is the expert (no one denies this) but he is a VERY busy man. So I feel much better sending their stuff to Harvard/Walsh Lab, where they seem to have more time for us. Here's what is going on with the Walsh Lab:

1. I sent their records off 2 weeks ago. The researchers have reviews every few weeks or so. They will review the boys' MRI and then decide if they are good candidates for their research program. If they are accepted, THEN we send them the boys' blood.

2. The researchers at the Walsh Lab are only working on finding genes that have YET to be discovered. Based on all the normal tests results we have been getting back thus far, this would mean our boys are great candidates!

3. The researchers at the Walsh Lab will not be in direct contact with us, and if they find something they will not contact us directly. However, they can contact our team of doctors that are working with us. Also, Dr. Weimer asked them if she can stay in direct involvement with the boys' case. So, if all else fails, I can contact her. But I am sure I can continue working directly with our genetic counselor, Quinn, for the most part. He is great at answering our questions and keeping in touch with us!

4. For now, we are waiting for them to review the boys' MRI's and to hear if they will be enrolled into the program. Still, even if they are enrolled, it may take a long time to hear results (if ever).

LOTS GOING ON! TONS OF PROGRESS!

I just have to say how thankful we are for all the AMAZING people who are working with us. Sanford Genetics Team, Palliative Care at Sanford, Birth to 3, Local Family Support, Children's of MN (Epilepsy Specialty Center AND Genetics Team), the Christopher Walsh Lab...everyone is so good to us and the boys! I could almost cry thinking about how blessed we are to have found these people and that they are willing to work with us!

We are also thankful that we were able to have some quality family time while in the Twin Cities! We don't get to see Jason's family often, so when we do get up there we try to see them as much as possible. We just want to say thanks to all our family for coming to US at the hotel to see us! <3


The boys outside for a walk.
Ty 6 months old - Aidan 20 months old
Swimming in the whirlpool at their grandparents house! Aidan 20 months old - Ty 7 months old