Ellie just had a 3 month follow-up appointment with neurosurgery so it seems as good of time as any to give an update on here.
Since Ellie's last hospitalization, we got her back on her seizure medication and after about a week the eye blinking stopped and she didn't have any more episodes like the one that sent her to the hospital. The past couple of weeks she's been battling a lot of nasal congestion that's resulted in her not eating and having trouble tolerating her tube feeds. During this time she started having these short episodes where her eyes rolled up into her head. It's scary for me but she returns to normal immediately after and having been through these type of issues before, I could reassure myself that she's okay. Her neurosurgeon said when a child is sick they are more likely to have break through seizures and that may be what she's experiencing. Ellie has a followup with her neurologist scheduled for next week and since this is really her specialty, I will also let her know about it. Ellie's been feeling better the past few days and we haven't noticed the eye rolling anymore.
But otherwise she's been doing really well lately. Her neurosurgeon is happy to hear that Ellie continues to slowly progress in her physical and mental abilities Things like her speech continue to progress. While she still usually says "Mama" when she wants her daddy's attention, she now has the ability to say "Dada". She regularly says "Baby" which she calls all dolls, stuffed animals, and of course her baby sister. When you tell her to say "Ellie" she says "EEE". The only person in our house that she doesn't have a word for is Payton. If you ask her to say "Payton" she either remains silent or makes a random sound like "Ahh" or "Mama". In addition to these names, she has a handful of other words that generally either start with a "B", "M", or "D". In a recent speech therapy evaluation she scored at 1 year 9 months in her expressive language and 2 years 6 months in her auditory comprehension. So she understands a lot more than what she can express.
Ellie has been having more and more episodes lately of getting really blue/purple colored lips and so I expressed that concern with her neurosurgeon this morning. While we've been aware that Raynaud's Phenomenon is associated with Ellie' genetic mutation, I guess I just needed the reassurance of her neurosurgeon that that's the cause and not an indication of anything more serious. Basically because of Ellie's genetic mutation, her body is lacking the chemical needed to relax her blood vessels throughout her body. This constriction of her blood vessels is what caused the blood vessels in her brain to close themselves off (causing Moyamoya disease) and is the reason she lives with high blood pressure (which we can't treat at this time because it would put her at a risk of having a stroke). Which also leads to Raynaud's Phenomenon which is the constriction of blood vessels in the hands, feet, and lips due to cold or stress and causes them to appear blue or purple in color. The blue lips were something we've been noticing with Ellie since she was 1 year old, before we knew anything about her genetic disposition. It can cause pain in a person's hands and feet but it's not usually considered a serious condition.
Ellie's neurosurgeon and I discussed the plan forward from here. Basically her neurosurgeon doesn't see a reason to put her under anesthesia for an MRI/MRA until a year after her last one (so in November). Last fall Ellie's cardiologist wanted to get some chest images to look at her aortic dilation/aneurysm the next time she was due for a cerebral MRI. But since in November the MRI was done in an emergency situation, no chest images were taken. So we are unsure of her cardiologist's timeline and if waiting until November for those chest images will be considered acceptable. Ellie's neurosurgeon is going to make contact with her cardiologist to discuss the timeline of when she thinks it would be best to get those pictures done.
Ellie has what's called aortic dilation which is also known as an aortic aneurysm. It is a condition that is extremely rare in children and is usually found in older people caused by years of high blood pressure. Aortic aneurysms in adults can cause a tear in the aorta which is usually fatal. The good news is that in children they usually do not tear and are not usually fast progressing. But with some types of conditions in children they can be more quickly progressing that others and since there's no information on the link between Ellie's genetic condition and aortic aneurysms, we can't be sure how hers will progress. Her cardiologist said her best guess is that around the age of 30 she may need to have heart surgery to repair that area to ensure that a tear doesn't occur. But it's something we need to monitor right now because we just don't know. Better yet, let's all just pray that God will take this from her so that she never has to go through open heart surgery.
Thank you all for the continued support and love. Go Ellie Go!
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