Thursday, March 20, 2014

Our Special Needs Journey:Part 11- Seizures, Genetic Testing - and Weight Gain for Julia!!


This has been an interesting couple weeks. I'm adjusting to this exceptional busyness as our new normal. We've always had very full lives but the aggressive volume of paperwork, phone calls, and appointments are not the TYPE of busy I enjoy.  The excessive number of things on my to-do list is a bit overwhelming.  I've become so sleep deprived and exhausted I can hardly zombie-walk through each day.

I know that often my tummy pains (endometriosis and IBS) are food & stress related.  I've been surviving on Energy Drinks (soooo bad for my body) and stress is a very mild word for how I feel. So it is no surprise that I am in SO MUCH pain right now.  Today is 6 days out of the past 13 that the pain is so intense I cannot will myself out of bed.  The fact that I made it to each appointment is due to supernatural strength God has given me to survive.  


Here's a picture of Bruce at Julia's appointment - not sure why he loves the scale so much, but we can't get him OFF of it! I love this new look he makes when he knows the camera is on him - a smile so big his eyes are squeezed shut!

So much GREAT news to update:

GOOD: The PCA details are coming together - we've found some really great people to work with the kids, the background checks are being approved, and the Agency nurse comes tomorrow to create our care plan, enabling people to start very soon! A parent must always be present - so I still have to drive to all the appointments & I'm still in charge of all the housework, but I am SO looking forward to the help!

GOOD: Julia is weighed at each weekly visit to the eating disorder clinic.  On the 7th she had gained THREE pounds! This is tremendous because in well over 4 years she has gained a pound twice, and both times lost it again.  When she returned last week on the 13th she was STILL up 2.8 lbs!

While we were in with the medical doctor (her team also includes a dietitian and psychiatrist) she had an absence seizure. Her eyes rolled back for just a few seconds and she was sheet white in the face. What was scarier was that she had just had very low blood pressure AND had 2 abnormal EKGs (heart).  I was at that very moment the doctor and I were trying to determine why - and did I know what absence seizures were and had she had them before... and then she did it in front of us!

Julia had no idea what had happened but I was shocked. Yes, I recently learned what those were - seizures without convulsions - I told the doctor.  Yes, I believe that in hindsight, Julia has indeed had episodes like this many times.  And yes, we do indeed have a family history since Dean has recently been diagnosed with seizure disorder.  

The earliest we could get in with our Neurologist is June so I had to have her Doctor from Melrose make a physician to physician request to be seen earlier. We were able to have her sleep-deprived EEG scheduled for this Friday morning! I'm a bit terrified what we will find because any brain damage will be my fault.  She is almost 13 and I never knew the seizures were happening. I didn't catch this earlier. I think my patched-together-with-bandaids-heart can take no more.


From that appointment at Eating Disorder Clinic Julia, Bruce, and I rushed to meet Dan, Taylor, and Dean at Children's to see the Geneticist.  We had to have the 4 kids evaluated over 2 different sessions since it requires over an hour per child.

(Monday was Dean and Julia's visit with Genetics - in the biggest exam room I've ever encountered! Thursday it's Taylor and Bruce's turn.)

GOOD: Chromosome testing and Genetics Counseling could provide us with answers, information, and impact our treatment plan.  Knowledge is powerful and the Doctor explained that this testing would be very important for our family.  We have to wait for Insurance approval and then the testing itself takes a month to grow a chromosome sample in the lab. (Technology is amazing!)

She did feel that both Julia and Dean displayed physical characteristics of Fragile X, as well as other symptoms, such as autism, ADHD, seizures, heart murmur, sensory sensitivities, and so on. Taylor and Bruce do not have the physical appearance but only testing will give us certain answers.  

 (Here's Julia and Dean (at ages 4 and almost 12) - they've always looked a lot alike.)

(Taylor had a look all her own till Baby Bruce came along - they sure look like siblings!)

I have very little knowledge on Fragile X and am choosing to wait and not consult Dr. Google so as not to increase my anxiety and fears. We are all fearfully & wonderfully made; God made my children in HIS image. 

The Public Health Nurse & Speech Pathologist came out to evaluate Bruce at the suggestion of our Developmental Pediatrician.  As a result of that assessment, a compete team from the school district will be here next week - AND (at the request of the Genetics Doctor) he needs to see Audiology.

I am not concerned.  My Brucie is a delight. If he qualifies for early intervention for communication I need not be saddened, but grateful to get him the services he can benefit from. Sure, the calendar is already full, but I trust God's timing and purposes.


More GOOD news - Dean's Occupational therapist had both her 9 and 10 am slots open up - so now Dean can be seen right away instead of at 11, after waiting in the room for 2 hours first.

PLUS Taylor was able to snag the 10 o'clock spot and get in 4 therapies for 3 kids in just 2 hours, yay! So now we only need 4 hours over 2 days to get 3 kids all 6 appointments they need each week! I've been given the gift of time!

Hey - there's that adorable I-know-the-camera-is-on-me look Bruce does.


I like to keep the kids occupied while we are waiting by packing their lunches and then doing some learning games together.  I've got Dean putting letter stickers on the Chicka Chicka Boom Boom Coconut Tree.  I also write lower case letters on those colored dot stickers and he places them over the capitals on the paper. Even Bruce loves to play with stickers, so this a great portable activity.

GOOD: Both Bruce and Dean have been seen at the Sleep Clinic and the issues are more behavioral than medical.  They have restless leg syndrome and Dean has night terrors, but the solution is very simple.  Getting Dean to stick to his bedtime routine and have healthier sleep hasn't been too bad.

Helping Bruce, however, has been painful. He has no ability to self-soothe thanks to my co-sleep-anti-CIO-scared-of SIDS stance to sleep training.  At 13 months old, I need to take charge of the poor sleep we are both getting.  He does not sleep if not being held (or strapped in that car seat) - he has NEVER slept in the crib (wait, he did for Dan one time, but he was already asleep, and only stayed there about 15 minutes) and once asleep wakes often to kick, roll, arch his back, and scream.

I'm trying to follow the sleep plan I was given but I was far too ill and in pain last night to follow through. Today, I set the timer and went in every 15 minutes for well over 2 hours before my tears matched his.  I could take it no longer and so here we both sit, me typing while he is fast asleep in my arms.  It took about 8 seconds for him to fall asleep with me. I do so treasure these times and am debating if this is even an issue I really need to be addressing right now, with so much else on my plate.

Taylor's sleep apnea is not well controlled, despite having tonsils and adenoids removed a few years ago.  She will meet with a doctor at the Sleep Clinic in 2 weeks and also do a sleep study.  She could sleep 12 hours and still be tired, cranky, and sluggish all day since the quality of her sleep is so poor since she wakes a lot.

Tomorrow night is going to be REALLY rough.  Bruce's sleep plan requires me to keep him awake until 11 while we work on resetting his sleep chemistry or something like that (but he won't sleep right away because I'm also supposed to use the crib).  Then I have to wake Julia at 4 am for her sleep-deprived EEG and stay up with her to ensure she stays awake.

So if you could be praying that all of our sleep improves, the PCA help brings some sanity (and maybe time for me to clean) into our home, we would find absolutely no damage from Julia's seizures, and that God would comfort us if we find something concerning in the chromosome testing, and that it would enable us to get the best treatment available.

Also, I am running into brick walls getting Dean Behavioral Therapy and ABA Therapy for Taylor and Social Skills Therapy for all 3. Not covered by insurance, not offered, years-long waiting list, etc. I've made so many phone calls, done so much research, and spent hours submerged in paperwork.  I am tired, I am overwhelmed, in pain, and a bit lonely.  Lord, please bring me relief - the help we need, progress, treatment, and sleep.