A lot has happened in the past week or so. First, I can't even begin to explain the overwhelming support that my family has felt since we received the news of Curren's rare genetic syndrome a few weeks back. There are so many awesome people in this world, so thank you to all from the very bottom of my (exhausted) heart! There have been many ups and downs this week, and I want to share with everyone the good, the bad, and the ugly (but especially the good)....
The incredible news is that we have been able to make an appointment at Kennedy Krieger in the Neurogenetic Clinic to see two of the doctors that contributed to the recent medical publication on HIVEP2 mutations. There is a fabulous person that helped us get our foot in the door, and lots of recommendations from people to start there. We are beyond excited to talk to doctors that are familiar with researching HIVEP2 mutations. We are also trying to set up appointments at Johns Hopkins that would coincide with our visit to Baltimore. Fingers crossed....
On the topic of good news - here's a bunch more. Curren had his 6 month re-evaluation this week with Early Steps and he is going to be authorized for an additional session of speech therapy and occupational therapy a week. We are really looking forward to the extra help! Curren also had an appointment this past week to have new orthotic braces made, which is fabulous news because it means his feet are finally growing. We were also assigned a case manager through our insurance company this past week. She seems super fabulous, and I think she will be a great asset to us - as we very frequently have claims denied, and some of Curren's very best therapists and specialists are out of network and currently not covered by insurance. And we also had a initial appointment with the Scott Center for Autism this week. We're hoping that the behavioral therapy they offer will become available to Curren to help with some of his frustrations.
So, on to the not so good - we got a call from the preschool the other week that they were afraid Curren was having a seizure. He was playing in the gym and just fell over. His body went completely limp and he had a staring spell for a few minutes where he wasn't able to focus or look at anyone. On our pediatrician's recommendation, we took Curren to the local ER, where we had some really good, and some really not so good experiences. What we found out was that Curren's blood sugar was at 40 when we arrived. He also had very low CO2 levels, and was diagnosed with acidosis (his metabolic pH level was more acidic than it should have been). They had an awful time getting an IV in his body, and from this point began blood sugar monitoring every 1-2 hours (which was also awful, but necessary). Curren did magnificent in his CAT scan, he laid completely still as a statue, and the results of the scan were normal. The local hospital got in touch with our Neurologist at Nemours, and the verdict was that we needed to be there. Curren was transported by ambulance to Nemours, so that he could be in the best hands at the children's hospital.
It was great that we were in such good hands. What wasn't great was the fact that people kept coming in to our room every 30 minutes or so, usually to poke Curren. And when there weren't people in the room, his alarms were going off every couple minutes or so. I don't think either one of us got more than 15 consecutive minutes of sleep through the night. Curren began an EEG in the morning, to see if any more seizure activity could be recorded. His CO2 and blood sugar slowly stabilized throughout the day, and we saw no seizures. There was, however, a new area of his brain that showed seizure-like activity - this time it was his left temporal area (in addition to his left occipital area). At the end of the day, everyone decided that all the numbers were stable enough and we could go home. This was fabulous news, considering Curren was basically miserable in the hospital - between all the wires and the constant pokes, he was completely skeptical of everything and everyone in the hospital.
So on to more good news - we followed up with our pediatrician after the hospital stay and Curren's blood sugar was perfect. We don't really know if a seizure triggered low CO2/acidosis/low blood sugar, or if low blood sugar triggered a seizure. But either way, things have been much better since the hospital. We have been feeding this guys every 1-2 hours to be on the safe side, and things have been great.
Aside from the hospital encounter, it hasn't been the most wonderful of times. I am still trying to wrap my head around the genetic diagnosis we received a few weeks ago. I have been googling my brain out, and reading some scary things. I wish that life could go on hold for a few hours (or just maybe a couple minutes?) so I could get a chance to catch my breath and focus, but there is a 2 year old and a 6 year old, and a +full time job, and laundry, and a gluten-free/dairy-free diet prep for the week, and homework. I don't know what the future will hold. Will my littlest require 24-hour care for the remainder of his life? Based on the information I have today, it's probable. Do his genetic condition predispose him to some nasties? Seemingly so. But I have a fabulous smiling face, and that's truly all I need. I will go to the ends of the earth to find options to allow him to be his personal best. And that's the next chapter...
I have been living with anxiety off and on over the past year and a half. I am not an "anxious" person, aside from the occasional butterflies in my stomach when I speak to a crowd. And I don't know that anyone that sees me on a regular basis would believe me if I told them that I've got some pretty extreme anxiety right now. This is the keeps-you-from-sleeping, feels-like-you're-hanging-on-by-a thread, body-is-aching-from-being-tense type of anxiety. It has been slowly building and comes and goes, but has pretty much culminated into the perfect storm over the past few weeks. My mind does not really ever rest. As a mother of a young child with undiagnosed medical and developmental complications, I can't stop searching for information in hopes of improving my son's situation, to the point of obsession. This has absolutely nothing to do with anything in my life, other than the helplessness I feel about our lack of medical progress over the past year and a half. It is a pretty awful downward spiral of a place to be.
We are 4 months into our wait for Whole Exome Sequencing genetic test results. The Whole Exome Sequencing is basically the mac daddy of genetic testing - it looks at over 20,000 genes within the human genome, where 85% of mutations known to cause diseases reside. I would be slightly less anxious had Cigna not denied the claim, on the premise that it is not medically necessary (separate rant...) I was told by a very unhappy and pretty uncertain-sounding woman from the genetics lab a few months back that as far as she knew, they were still moving forward with the analysis despite the insurance denial. The original anticipated wait time was 3-4 months, so I have been rather obsessively checking my email hoping to receive some type of news about the results or coverage. My fear is that we are losing months and months of time, under the assumption that the test is moving forward, when in fact is isn't.
We are also recently receiving piece-meal lab results ordered from a new biomedical doctor that saw Curren about 3 weeks ago. Some of the results indicate the possibility of specific abnormal metabolic conditions, which I of coarse googled and shouldn't have, as these specific abnormal metabolic conditions sometimes result in premature death. I know that the remainder of the outstanding lab results were reported to the doctor last Thursday (I called Quest) and so now I am rationalizing in my head the various reasons why the doctor hasn't given us the results yet. This, too, is adding to my anxiety.
And back in July, we had two EEG tests performed, both with abnormal results. Unfortunately Nemours did not give me much information about the results or what they might mean, so I have turned to Dr Google after requesting the written copies of the reports, which describes potential epileptogenic activity, possibility of underlying structural or metabolic abnormality, suggested lowered seizure threshold in left occipital, field spreading into right occipital and left posterior temporal area, careful clinical correlation is recommended, etc. I was hoping last week to gain more insight as to what these reports may mean at our routine follow up with one of Curren's Neourologists who's niche is epilepsy ("Epilepsy Center" is in the practice's name), but unfortunately he didn't offer anything remotely helpful. I have been anxious about what this doctor may say about the EEG reports for weeks now, and him providing no insight has added to my anxiety.
After getting nowhere with the local Neurologist, I called Nemours to schedule another appointment with Neurology so I can talk directly to the doctors who analyzed the EEGs and discuss the things in the reports that were never conveyed to me. It has been 5 days now since I left my message to request an appointment (at which point they reminded me that we weren't due for another appointment until January) and I have nothing. I emailed them asking to expedite the schedule request due to my concerns about my son's recent regressions and I have nothing. This is adding to my anxiety.
As we start to hone in on possible causes of my son's difficulties, I wonder if we really should be pushing so hard for these answers. What if it's not something I want to hear? What if this journey consumes me and I lose sight of the present? I wouldn't be able to live with myself if there were interventions that could make a difference and I didn't push hard enough to find them, but what if the road to get there honestly compromises our quality of life?
My current experience is applicable to all parents, and all life situations. Don't let your fear of the unknown rob you of your joy of the present. Enjoy each beautiful moment of life that you are blessed with, and savor those moments. Soak your babies up and don't let your fears shadow their triumphs.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.