I feel inspired to write today after a nearly six month hiatus. This last year, plus some, has been such a whirlwind of emotion and growing, educating and gaining knowledge.
(Wouldn't you know that inspiration is short-lived as B interrupted it only two sentences in to ask for a sandwich...sigh)
So...as I was saying...
This last year has been trying, to say the least, but I have pressed forward with a million and one doctor appointments for M, along with a million and one blood draws and other tests, in an effort to gain more knowledge of 'The Thing' that has robbed my sweet boy of words, skills, and his once happy disposition.
It all began with the awful constipation he began experiencing in April of 2011. Why was a child who was regular each and every day all of sudden experiencing low motility and horrid, horrid bouts of pain? We still don't have an answer to that question, unfortunately, but by going to the ER during that, we did get ourselves on the right path. As those of you who have followed our story know, M was then diagnosed with a rare endocrine disorder called hypoparathyroid disease. We have to monitor his calcium and phosphorous levels fairly frequently (we've never quite gotten the phosphorous levels down to a normal level for some reason) and M will need to take elemental calcium supplements (3x/day) along with a synthetic form of vitamin D (2x/day) for the rest of his life. From there we decided it was a good time to revisit a geneticist as our previous encounter when M was four and living in Austin provided us with absolutely zilch. In fact, the doctor at that time told us to not waste our time even doing a blood draw as she knew we wouldn't find anything 'for at least a few years until they develop a blood test for autism.' Funny that a.) no such test yet exists, and b.) she didn't know what the fuck she was talking about since his issues seem to go well beyond that of a traditional autistic person.
Our genetics team at Stanford (as well as all of our specialists there) have been terrific thus far despite not coming up with the golden egg to help M. Frankly speaking, they've given validation to this Mom and my dogged search for answers, and that's very valuable to me as I don't even always have the support of the other half in this regard. Everyone seems to agree that there is some type of mitochondrial myopathy at work...but which one? We've tested negative on so, so many things. Fortunately, we've ruled out the most frightening of the metabolic disorders, so I suppose having to wait is a good thing.
Two years ago an EEG was performed on M. The results showed that he had a rare brain spike in his right temporal lobe. The neurologist at the time said that he'd likely never have seizures even though this 'spike' put him at a greater risk. He told us he'd write us a prescription for ability (an antipsychotic we politely declined) and basically washed his hands of us without even the tiniest inclination to think outside the box.
Our new neurologist (another great validator--thanks, doc!!) told me that said neurologist is highly regarded, HOWEVER, our M belongs in a teaching hospital where the whole picture is taken into consideration. She also made a statement that none have made prior to this: She's not entirely comfortable just calling M autistic. More reason to search...
A second EEG was performed two months ago. The staff was amazing with my extraordinarily fearful and sensory defensive boy. We had (as we always do) several strong hands, including mine, to hold him down as we wrapped him tightly like a mummy in two sheets. We had to do this in order to get the probes on his head, and then during the 30-minute test, I sat closely to him on the examination bed with his iPad in view and a hand ready to hold him when he tried to wrestle free of the sheets. The test showed constant activity similar to the test two years ago, though this time in both the left and right temporal lobes. This neurologist described these as 'discharges' rather than spikes, a term that makes so much more sense to me given that ever since M was about six months old we've described these frequent episodes of sound and movement that seem as though a shock of electricity is going through his body. Though no actual seizures were found, the doctor wants to talk with us (next week, actually) about possibly trying anti-seizure medications. She feels that they may help him improve, though cautioned that we would have to be very careful in our dosage and monitoring of their efficacy. I'll report back if we choose to go this route. I have a niece who has epilepsy and has had quite a bit of difficulty with anti-seizure meds, so I am nervous but also excited about the possibility of improvement.
Last week we had an anesthetized MRI performed with dyes (a brain spectroscopy), as well as a skin biopsy taken for genetics and blood work drawn for a whole new slew of mitochondrial disorders. The MRI showed no lesions or tumors, thankfully, and we should hear back on the biopsy and blood tests in the coming weeks and possibly months.
On top of all of this, we've gotten another whammy on M's diagnostic checklist: precocious puberty. I've been concerned that this was happening for nearly nine months and had remarked to our endocrinologist that I didn't think it was quite 'normal' for an eight-year-old boy to need his hair washed nightly, to have strong body odor, and to already be getting pimples on his nose and sometimes forehead. She wasn't all that concerned, but mentioned that I should be looking out for pubic hair and penile growth. Sorry for the TMI, but I definitely called her about a month ago with those very things in check. Off we went for yet another blood draw and sure enough, Mama was right! Now for the tricky part...do we begin injections every three months to pause puberty until a more acceptable time? This appears to be a question of ethics to many people, though I'd like to think it's yet another one of those bits of business that people should keep their noses out of unless they've walked a mile in the other person's shoes. I had no idea how controversial this idea was until I spoke to a few parents who have chosen to pause puberty. Both asked that I speak to them privately rather than on a semi-private special needs board. How sad that these parents, when faced with such a tough situation for a child already experiencing so much difficulty, had to worry that others would judge them for their decision?
We have not yet decided what we will do, but I am most definitely leaning toward pausing puberty for many reasons, not the least of which is that I don't want my child to possibly start getting facial hair when he's 10 years old. (We have difficulty cutting his hair--I can't imagine he'd ever let us touch his face to shave him) I've also become very afraid of the chance of him having a grand mal seizure. The risk for these greatly increases in kids like M when they go through puberty.
If anyone reading this has been faced with this same dilemma, I invite you to email me with your experiences if you are willing to share them at firstname.lastname@example.org
Please know that anyone who chooses to flame me will immediately be blocked. (Doesn't it suck that we bloggers have to put that sort of disclaimer in a post??)
Today--Mother's Day--is bittersweet for me, as nearly all of them, save the blissfully ignorant first one, seem to be. I find myself even more grateful for the 'normalness' that is my sweet B on days like this. He's been so excited about my 'special day' all week long, and he has done an amazing job of making sure I know how great I am and how much I am loved. He roused the other half from bed early this morning to jointly create an amazing breakfast that they brought to me in bed. It made me a bit sad to feel happy that M remained asleep while B and the other half worked upstairs in the kitchen together. But I knew that if M had been awake, I would have had to get out of bed and Daddy and B wouldn't have gotten the quality time together that they wanted. M woke up screaming with belly pain and my immediate thought was, 'here we go again.' But I'm pleased to report that the screaming was short lived and my boy surprised me by coming into my bed without even being asked and laid quietly with his brother and I for nearly an hour as we snuggled and watched Sponge Bob. I appreciated that moment along with the kisses I was able to easily receive from him today.
I'm not the same person I was when I started this blog nearly four years ago. But like the title of my blog says, this is my new normal. It's going to always evolve with peaks and valleys...I know that now. I'm not going to always feel like I can or need to be funny. I've still got my edge and my honesty...I know no other way, but there's a solemn sort of maturity that has crept into my being over the past four years as well. I miss the old me at times, but I know that the new me is the one that keeps forging forward to find ways to help and protect my son. The new me has also lost hold of my patience more than I care to admit, and that part of me I do hope to one day regain.
I know that most mother's, of special needs children or not, feel the guilt that they are not good enough. I hope that of all the gifts you may receive on your special day, the one you cherish the most is the knowledge that you are doing a good job even at your seemingly worst moments. Be kind to yourself today and always. And I'll try to do the same, okay?
Happy Mother's Day!!