Probable Diagnosis

I'm trying to wrap my mind around how quickly our "probable diagnosis" came. It was about 5 minutes after I wrote my last post about how fun it is NOT, to see your kids go through hard stuff like being knocked out for an MRI. We have a "probable diagnosis" of something called Septo-Optic Dysplasia. I've waited to post or really talk about it because I needed a few days to get some basic research done. It's not life-threatening or anything, so we're really happy about that, but we're sad about some of the "not so fun" parts. Kalea has 2 of the 3 markers confirmed, and has been referred to Endocrinology to be tested for the 3rd, hopefully in the next few months. 1 in 10,000 births are affected by this disorder, so it's not super rare, but rare enough that scientists don't know much about the how/why it occurs, because it's almost completely sporadic, not hereditary, the mutated genes are recessive and in most cases both parents have to be carriers of a recessive gene in order for it to present, but there are almost no incidences of it occurring twice in the same family. That's crazy weird! If you hadn't noticed, this is all really fun for my inner science nerd, so if you're annoyed with all the biology of it, scientific terms and explanations, probably skip this post :) Also, I am 1,000,000% thankful for my Bio30 teacher, who 10yrs ago gave me my first glimpses of how amazing the human body is, and explained things so well that a lot of this stuff isn't foreign to me. All those diagrams that she made us learn and flashcards she gave us to help us study have all stuck with me and are making this all a lot less traumatic, I need to write her a thank you note.
Okay, here's kind of a brief summary of the markers we have and the one we're looking for,
1. Optic Nerve Hypoplasia: We've learned that the optic nerve in Kalea's left eye is underdeveloped ie. much narrower than her right, this means that instead of having over a million nerves/connections happening she has far less. This also means that the optic disc of that eye is much smaller than if it had developed normally, therefore it has a harder time processing images/focusing and that's why her eye wiggles or sometimes is very turned. Our next eye appointment will be all about what we can do to straighten/help that eye out. We know for sure that it is somewhat functional so we're confident that we have a great team to help us manage that part of things.

2. Missing Structure in the Brain: From what we understand from our phone meeting with the doctor, her brain looks great, but it is missing the septum pellucidum which is a membrane that separates the fluid filled ventricles of the brain. A lot of people are actually missing this structure and don't even know it, although it can be a contributing factor to certain behavioral disorders ie. ADD/ADHD- which if you know Kalea at all, we were already pretty sure we might end up dealing with anyway. Our job now will be really focusing our time and energy on figuring out which learning methods work best for her, keeping her focused when she needs to be and putting in some extra effort to reinforce the things that she does learn- like any parent does. This will hopefully speed up our referral to the Neurologist so that they can do some on-going testing to make sure that we're on pace with where Kalea needs to be, and so we can figure out what resources are out there for her if she needs them. In the picture below you can see the septum pellucidum- the dangly yellow part in the middle of the mint green- that's the part that Kalea doesn't have, so interesting.

3. Pituitary Hypoplasia: This is kind of the "big deal" of everything, and the thing we're worried most about figuring out how to manage, if she happens to have this marker. The pituitary gland works hand in hand with the hypothalamus and the thyroid to produce hormones that help the body grow, reproduce and create energy aka metabolize. If it's underdeveloped, Kalea will need hormone replacement therapy for the rest of her life, in order for her body to function normally. She'll be tested on a very regular basis for the growth hormones because they are the ones produced in the pituitary, and although at this point in her life she is pretty ahead of most kids her age growth wise, that could slow down at any time, so they monitor it really closely, and when it slows, we'll get to play doctor 6nts a week giving her at home injections. I can only imagine how fun that will be for us since I'm severely nervous around needles and Steve is not home for bedtime on a regular basis. Oy! In many cases, they can get a person to just a few inches shorter than what they would have predictably been, so that's exciting, since we've had nurses at immunizations tell us Kalea could end up being over 6ft tall, we'd be happy with 5'9 or 5'10, then I won't look so short next to at least one of my kids!
Anyways, that's kind of the disorder in a nutshell. Now we have a good idea of what we're dealing with and how to manage it, and we just wait to start the slew of specialist appointments that are sure to follow.
On a kind of related note, the Kinsmen Lotto is selling tickets throughout the summer, to raise funds to purchase a Next Generation DNA Short Sequencer, for the Alberta Children's Hospital. The sequencer helps doctor's identify genes that are responsible for pediatric disorders and can help doctor's tailor treatment specifically to the patient, it helps ease fears for families dealing with these disorders and gets the ball rolling faster on treatment plans. If you're able, it's a great cause to donate to, and you could win some awesome prizes! We love the Alberta Children's Hospital and know that Kalea, and many others are benefiting from awesome donations that have already made it possible for them to get access to amazing medical staff, and state of the art diagnostic equipment, in our case, an MRI that she otherwise might have had to wait much longer for. We are so SO grateful and feel so blessed to know exactly what we're dealing with and how to treat it and there are so many other families who don't, so we're going to try to be as proactive as possible for them too. We have some really fun ideas so stay tuned!
Cutest smoothie mustache I have EVER seen!


Megan said...

I've been thinking about you guys the past couple of days. I'm so glad you are being BLESSED with answers. Let me know if I can help in any way.

The Staheli's said...

I am SO surprised with how quickly this has all happened. I know you were concerned about a possible delay with the MRI and appointments and I'm just so impressed! You guys are so great, and Kalea is very blessed to have so many people who love and support her. We will continue to pray for her and your family as you move forward with this diagnosis. Love you! ♥

Sheri said...

What a true answer to prayers with how fast things have been coming together for you.
Keep us posted on how things progress. You are one amazing Momma!