A journey for real answers

I wanted to update everyone on something I mentioned in the last post about us going to Philadelphia. I feel like we get asked a lot….“So what’s next for Henley?” Honestly, I am not even sure we know the answer for that at this moment. We are just trying to take everything one day at a time. Every time I sit down at my computer, I have a daunting feeling come over me. I sometimes just avoid the computer all together for days at a time because every time I open it up, I think of things I need to research. 

During our most recent appointment with Henley’s geneticist, she basically said that we have this information about Henley, but the research is not at the same place as the technology. We have the technology to test for all kinds of things and to such a small molecular level…however, because we are some of the first people utilizing these extensive genetic tests, we keep finding stuff that “has never been seen before”…yet. We get the fact that Henley’s genetics and internal issues are rare and that, for the most part, you would never be able to look at her and tell there is anything wrong with her. However, that still doesn’t stop us from looking for answers for what these things mean for her and how that will affect her life. Here are the things that we know for sure:

1Henley has Chiari (Kee-are-ee) Malformation Type 1. This is what she had brain surgery for at age 2 and has the potential for facing another surgery at some point in the future. Our neurologist said recently that he feels certain that at some point Henley will need to undergo another more extensive surgery to create more space for her brain due to the amount of crowding and continued “crowding” and pressure on her brainstem. We are currently taking that one day at a time and are having the “We’ll cross that bridge when we get to it” mentality.

2.  Henley has a very rare genetic condition in which she is missing part of her 16th Chromosome. This is so rare that it does not even have a name, rather it is just referred to as 16p11.2 Micro-deletion. Several of the kids who have this micro deletion also suffer from Autism or are “on the spectrum”. There is very little information out there on how this could affect her life, and because there are not a lot of people out there with this problem, it’s hard to research. Currently, Henley is 1 out of only 307 documented cases of this in the world.

3.  Henley was also diagnosed with Ehlers Danlos Syndrome which affects her joints and makes her have hyper-mobility….just like her momma. Yep, I have this one too. I never knew it was a “thing” I just always thought I was cool because I could do crazy tricks with my joints. However, as I am aging myself, I am learning that I am having some early onset osteoarthritis and other problems with my joints that are complications from Ehlers Danlos Syndrome.  This will be something Henley inevitably deals with as well.

4.  After Henley’s WES (Whole Exome Sequencing) test we were able to look further in depth to her DNA. This test allows us to identify specific genes in Henley’s DNA that have problems or malformations that might be causing some of the clinical issues she still suffers from. In this study, we found that three of her genes have problems: one dominant gene and two recessive genes. However, we are not positive about what any of that means because those had “never been seen before” in the genetics worldwide database. In my opinion, I think it’s just because people don’t get this type of testing done all the time. The testing alone is a rare step to take, so I am certain there has to be SOMEONE else out there with these issues…. and maybe they just think they are “different”.

After our counseling session with the geneticist, her response to us was basically this, “I am so sorry that I don’t have answers for you, but we will know more over time and we will hopefully and most likely have answers to these issues before Henley decides to start her own family.” She said that if she were us, that she would be significantly more concerned with the fact that she is missing part of her 16th Chromosome and not dwell on those other genes until we know more. As we left the office, we both felt like we had hit a dead end.

In the fall of 2013, I found an organization that links families together with very rare genetic conditions so that the organization can partner with researchers and doctors who are specializing in this one thing and collect information from the families who are dealing with these specific conditions. We found out this spring that every year the organization puts on a small “family meeting”. This August, the meeting is being held in Philadelphia. Attending would allow us to meet other families like us face-to-face and also speak directly to the researchers and doctors who will be able to give us the absolute most up-to-date information regarding what it means to be missing part of your 16th chromosome and what that will mean for Henley in life, education, and as she grows. We are excited to see what might come of this trip to Philadelphia.