Sorry I haven't posted in a couple days, it's been a very busy past couple of days. After KTLA reported Leah's story on their channel and website, we've received a lot of attention from different media outlets. It's been great to see how much it's grown and how many people it's reaching. We have been flooded by emails and messages on facebook everyday with well wishes and prayers for our baby. It's really been amazing to see so many people want to help and be a part of Leah's journey.
Anyway, on to the updates.
So, Leah will have her cataract surgery tomorrow at 7:30 am. The neuro team came by today and told us that they will be doing ANOTHER spinal tap while she's under anesthesia for her surgery. They spoke with 2 specialists in movement disorders, one from Rochester and another from Children's Hospital LA; and they recommended doing another spinal tap since the last one was tainted with some blood, and maybe they can get better results from this new one. They will be looking for mitochondrial DNA markers, fatty acid levels and neurotransmitters again. They specialists also recommended trying the Leva-Dopa Carbi-dopa (Sinumet) again, at a higher dose. They seem to think that because she is so little and there is no previous dosage for someone so small, that maybe they were too conservative and did not give a high enough dose for it really to have any effect. I am a little nervous about that, just because of her reaction to the Sinumet last time, but they told me that it is not long acting, so if it doesn't work, at least it won't be in her system for too long, and we'll have a clear answer.
Neurology is also going to request for the Ophthalmology team to save the cataract that they remove so that they can send it to the lab and the pathologists can study it. Sort of the same thing they did with the muscle biopsy, and see if it gives them any clues as to what this could be. Speaking of the muscle biopsy, can you believe they STILL have not given us any results yet?! It's been well over 2 weeks, and our neuro docs said they are going to hound down the pathologists for answers. We are hoping we can get more information from the more specialized muscle stains they ordered.
The good news is that they officially ruled out Pelizaeus–Merzbacher disease! This is one of the scary fatal diseases we were afraid of, so we're glad that it is off the table. They are also sending out some tests for VERY long chain fatty acids, instead of the previous long chain fatty acids. Or as I call them the super-di-duper-long chain fatty acids, lol
We have gotten some great suggestions from people who saw the reports on the news or online and we are going to bring them up to our doctors, and they are open to ideas. We also got some people who sent us names of doctors as well, so we are passing those along to the team of docs as well.
Leah is now on Clonadine, to help lower her heart rate, as it had been in the 200-220s recently and it seems to be helping a lot. It is also supposed to help with some of the movements, and she has improved, although she still has them pretty frequently. She is also getting Clonapin for extra agitation, so if she is moving a lot and not able to rest, they give some of that and it calms her down. It probably seems like they are giving her so many drugs, but I really think that they help her, because sometimes her movements are so extreme, she can't nap or sleep at all at night or during the day. She gets soooo sweaty and burns so many calories that they give her extra milk per hour, plus extra calories from the formula they add to the breastmilk. She has gone up a tiny bit recently though, thank god. She is now at 5 kilos or 11 pounds, which is in the low range of normal for a baby her age. She is really tall though, so she looks even skinnier, I pray for the day when this kid gets rolls on her arms and legs.
The heart echo results came back and her heart looked normal, so that's another relief. They are ordering an ultrasound of her abdomen to recheck if she doesn't have any metabolic disorders that may be affecting her kidney or liver. As well as another spot EEG of 30 minutes, just to make sure again that she isn't having seizures. She had 2 before and they were both normal, but it's been another month, so maybe she could have developed seizures now that she's a bit older and it doesn't hurt to confirm it, I guess.
They are thinking of trying out Tegretol (Carbamazepine), which is an anti-epileptic drug that could help control some of the "fits" she has. Leah has 3 types of movements. One is the regular baby movements, intentional moves like trying to suck her hand. The other is what we cal her "dance", where her limbs sort of flail and her head bobs and jerks around, which she can't control. Then she has her "fits", this is when she goes into a weird pose, her leg sticks up int he air, she holds her arms to the side, rolls her eyes back and trembles. That's what looks most like a seizure, but EEGs have not revealed seizure activity. So, the Tegretol could potentially help with the fits. By the way, when she was on the Haldol, the "fits" where so bad, that she basically had them non-stop all day. Normally, she does some baby moves, some of her dance and every once in a while, she has a little fit. This past weekend was horrible to see her having them constantly, which is why we're happy they stopped the drug. Coincidentally, the Reglan she was on WAY back in April when all this started, which they gave her because they thought she had acid reflux, is the same type of drug as the Haldol. So, at least the docs know that for some reason she has a bad reaction to whatever those drugs stimulate in her brain.
I'm posting a video of her "dancing" so you can see some of her moves. We try to keep things positive and happy around her so that she can't sense our sadness about everything that's going on, so we sang while she moved and showed off her outfit :)
Here's a video of her when she was on the Haldol, just for comparison.
WARNING: it looks really scary to see her like this, so don't watch it if you can't handle it
Well, I guess I'll be posting again tomorrow to let you all know how the surgery goes, let's hope it goes smoothly without too many issues.
Thanks once again to everyone for supporting us, sending us messages, donations and prayers.
We really appreciate it.
It's become much easier to deal with, now that we know we are not alone in this. I've become much more hopeful than I was even 3 weeks ago. Zev and I are exhausted all the time, and we get asked by so many people "how do you do it?". The truth is, there is NO other option for us, we have no other choice but to be here for our daughter and by her side. All we can do right now is give her all the love, kisses, hugs, squeezes that we can and make her feel less afraid and so loved. She is our whole world and she is all that matters to us right now. We NEED to stay strong for her. But it helps when you have so many people who can hold you up when you feel like you have no strength left, so thank you to all our families, friends and people who are following Leah around the world. You are now part of what helps us stay strong for her and we're going to keep fighting until she gets better and can live a full happy, healthy life.