So, it seems that a day doesn't go by that I don't talk to a doctor or nurse, about tests, scheduling, billing, etc. But today was a little different, because you see today I talked with the contact person at Engle Laboratory. Engle Laboratory is an HHMI molecular genetics and developmental
neuroscience research lab at the Children's Hospital Boston and
affiliated with Harvard Medical School.
I had originally contacted her back in October because in my fabulous googling abilities I was able to find a lot of information on their site that defined Duane Syndrome. Currently they are working on a research study for clinical and genetic studies of complex eye movement syndromes called the Congenital Cranial Dysinnervation Disorders (CCDDs). In case you were wondering, Duane Syndrome is a CCDD. Okay, so now that you have a background that doesn't mean that much to you except probably some key words like research and Harvard.
Our family is enrolling in their study. How is awesome is that!! We have been invited to be a part of this great study to try and identify the genetic mapping of Duane Syndrome and their related Syndromes. Yes, you heard me right, they are very familiar with the related syndromes and are testing those as well. After coming home from seeing the genetics specialists on Tuesday, I made the final decision to enroll. When you read the consent form it can spook you on the ramifications of enrolling in such a research program. I know that they have to disclose as much as possible to you, but I truly believe this will be more of a benefit to us and possibly to many others than harmful to us.
I sent the contact person a message about enrolling and then inquired about if their team would be able to help us confirm the syndrome that we suspect Thomas carries. I thought we as much knowledge as they have acquired they could at least point me in the right direction or help confirm what we find genetically. She promptly answered me with several questions, which I was able to answer immediately. She then proceeded to talk with Dr. Engle about Thomas' case and discuss a plan for us. I couldn't believe she went and talked directly to Dr. Engle the head of the laboratory in which it is named. Dr. Engle
recommends that we go ahead and participate in the research study first as they are
about to target a few other families that they have enrolled (in which there is a
family member affected with the same suspected syndrome) for exome
sequencing-basically, they can look at all the genes that make up Thomas' DNA
and look at possible shared mutations with other individuals who have the same
clinical findings. Then when they have a finding Dr. Engle would recommend I
be contacted and have Thomas travel to Boston for a detailed
evaluation at which time they could also offer confirmatory testing such that our
testing result could be reported back to our genetic counselor, as
required.
I was elated!!! To think that they could take the DNA from Thomas and create a map of it and then compare is side by side with other maps with similar symptoms. As rare as Duanes is, the suspected syndrome is even rarer. This would by far be the closest type of testing that we can do to confirm in a more black or white setting the syndrome Thomas has. This would allow us to be more informed on his current condition, his prognosis and best way to plan out his care throughout the duration of his life. Not to mention the continued research information we would be providing to the program. A program that has already identified several genes linked to Duane Syndrome. Its funny how the things that make you happy change as circumstances and life around you changes.
When I shared this information with my husband, I think all he heard was go to Boston because he started to share his concern about costs. I realize this is the typical male response as he is the breadwinner for our home and finances have gotten a bit tight with the medical bills coming non stop. However, enrolling in the research study is free to us. As for the flight and the actual clinical visit, I am not sure but we have a lot of people who are really stepping up and are wanting to help us beyond the prayers. This brings me to another exciting event I must share with you.
I hope you all can pull up this link as it is an event sent up through Facebook, if not you can try to cut and paste. I am still new at this blog stuff. But we have some sweet friends who are offering discounted golf rounds with a portion going to a medical fund for us to continue to help pay for Thomas medical bills. They are also accepting new or used golf equipment to sell.
Tee Time 4 Thomas
My hope is that once the discovery phase is complete the maintenance will not costs as much, but I may be naive on that point. We have also started looking into applying for the Medcaid/Katie Beckett program, but its a long stressful process and there are no guarantees.
We have such an amazing support system it brings tears to my eyes!! Again, I say this is all Father God's plan and he is going to take care of us!! Every note, every card, and every hug touches my soul and on the harder days that is what lifts me up. I just can't thank you enough.
Next up. . . eye doctor on Monday.
“The Lord will give grace and glory; no good thing will He withhold from those who walk uprightly.” Psalms 84:11
Thomas at school with mommy today! 19 months old and 1 day
