Scarlett's Diagnoses

As promised, here is a simple (as I can possibly get it) description of Scarlett's diagnoses. I'm sure my facebook friends are going crazy by now hearing these words. When I first found out about all of this, I was scared. Terrified. I searched the internet, looking for more information. Multiple times I stumbled upon blogs of mothers just like me. Some showed me a better idea of what to expect, even if they WERE a little scary. Some showed me that you can still have a (somewhat) normal life. And that was helpful. ALL of Scarlett's condition are pretty rare. So to meet or read about stories just like hers makes me feel....not so alone.
I hope that maybe someday, my blog will do the same for someone else.

*big breath*
Here we go!
*cracks knuckles*

1. Septo-Optic Dysplasia:
This condition includes:
        > An absent Septum Pellucidum. That is a part of your brain, midline (in the center.) This can cause problems with vision, coordination, and intelligence.
        > Hypoplasia of the Corpus Callosum (which means it is underdeveloped,) also a part of    your brain, midline. Some children/people with SOD have an absent one. Luckily, hers is there - just very, very thin. The Corpus Callosum connects your left and right hemispheres of the brain. It transfers motor, sensory, and cognitive information between the hemispheres.
        > Optic Nerve Hypoplasia. Remember, hypoplasia means underdeveloped. So, her optic nerves are very, very tiny. About 1/4 of the regular size. 

See how her eyes sometimes do this?: 

 Or this?

 And this?

That is why.



Scarlett is expected to have leaning, mental, and physical disabilities. However, it is too early to tell how severe, if any (which would be awesome, but probably unlikely.)
Scarlett is also blind. Right now, it is hard to say how much she can actually see (because she can't tell us,) however - because of her Nystagmus, small optic nerves, and the fact that her eyes and pupils do not react (move, dilate, or contract) to light, we, her ophthalmologist, and doctors, are all fairly certain that she cannot see. If she can, or if her brain ever figures out a way TO see, the best it will ever be is shadows or blurred colors. 

Side view of the brain.

2. Central Diabetes Insipidus: No, not Diabetes Mellitus (aka, Type 1 or Type 2 Diabetes.) In your Pituitary Gland, there is a hormone called Vasopressin, an anti-diuretic hormone. Scarlett does not produce enough of this hormone. So, her brain cannot tell her kidneys what to do with water. Instead of holding onto water and distributing it, water goes straight through her. This causes her to have high sodium levels ALL the time (which is dangerous - too high or too low sodium in anyone can cause seizures or comas,) and dehydration. When Scarlett has Hypernatremia, she is very fussy, lethargic, she refuses to eat, and she does not have bowel movements. Normal sodium levels are between 136-145. Scarlett is usually above that, the highest being 166. She has recently started DDAVP, or Desmopressin, a hormone that helps her hold onto water. Since then, her sodium levels have dropped and are normal (thank God!) People who have D.I. and are not treated usually pee 16-21 LITERS a DAY!!!! Yes, you read that right!

3. Hypopituitarism: Your pituitary gland controls soooo many things! Scarlett's pituitary gland does not produce enough Vasopressin (see above,) sex hormone, or growth hormone. She produces about 5% (out of 100%) of sex hormone, and not even enough growth hormone to register on the tests (so, less than 1 percent.) This means that she will be of small height and weight (to name the main symptoms) and that she will have a hard time going through puberty, developing, and will most likely be infertile. However, once she is old enough, she will be started on growth and sex hormones, which will hopefully help her. She will be on the sex hormones her whole life, and the growth hormones throughout puberty at least.

4. G-Tube Placement: A G-Tube is a feeding tube that is surgically placed through your stomach. Because of Scarlett's conditions and GERD, it is hard for her to coordinate, eat, or feel up to eating. She is a failure to thrive baby, so she's been tiny for so long! However, even though we hate her having it, we really are grateful for it, because it has kept her alive and fed and growing!

Scarlett's G-Tube (and her umbilical hernia! It has since gone away, haha!)

Here is her set up with her pump:

5. Unilateral closed lip Schizencephaly: You know cleft lips? Scarlett has a cleft brain. It is in the right hemisphere. She is expected to have seizures her whole life because of this (we haven't experienced one yet,) and her chances of developing Epilepsy later in life are very high. 

These aren't Scarlett's scans, but an example. See how there are those huge, gaping holes in the middle of these brains? Scarlett's is like that - only not nearly as big, on one side (not in the middle) and it is closed, like the top images and the bottom left.

Annnnnd she is anemic. WHEW! I think I'm done!!! Are you absolutely TIRED of reading yet?!?! 

If you have any questions, feel free to ask! If you have any comments, I'd love to hear them! Thank you for reading! And I promise, not ALL of my blog posts will be all medical-y ;)

-Cait