GI - gastroenterologist update

This was the first GI appointment that did not result in any blood draw recommendations.  He is on  the charts for height and weight and BMI, although in the low 10th percentile.  All good things considering where he's been. We're just going to keep doing what we're doing - he still drinks special formula from a bottle but the doctor says not to challenge him since he could easily get dehydrated.  So, even though he is four now we will let him have his morning and evening bottles while he gets better at drinking from a straw cup.  He is still on periactin (cyproheptadine) 1 mg three times a day about 1 hour before meals to stimulate his appetite.  It works really great for him.

Opthalmology appointment shows no strabismus

You've probably heard it before if you are reading this blog - "is there something wrong with his eyes? Could it be strabismus?"  I' had been hearing  this question for months from therapists, teachers, etc. Granted my son has uniquely shaped eyes but it didn't even occur to me that there could be anything medically wrong with them.  A visit to a Stanford opthalmologist ruled out strabismus and any other conditions AND his vision is age appropriate. Yay!

Whole Exome Sequencing

It's been a while since I last posted, but really we still have no answers.  What's new is that we are new pursuing the genetics route.  More and more tests are becoming available and we are going to be doing a whole exome sequencing.  The blood test looks at the genes that interact with the protein in the body. Don't ask me how it works, it's complicated. According to the geneticist it is a broad test but it can tell us a lot.  So, now we wait for authorization - apparently the test costs in the thousands. The blood is drawn from my son, me and my husband and sent overnight on ice to Texas - Baylor School of Medicine. 

Low Platelet Count - Abdominal Ultrasound

My sons platelets were low for several months and then the last test showed them in the normal range, low, but normal.  He also had an abdominal ultrasound to check his spleen since an abnormal spleen can cause low platelets.  His doctors were also a little concerned about all his bruises on his legs, but luckily they were just the result of being an active 3 year old and not a blood clotting problem.  When you hear the word platelet you just can't help but assume the worst - leukemia.  Luckily, the sleepless nights were short lived and he now seems to be doing much better.

Yet another specialist??

18 months after the feeding tube came out, we're still looking for answers as to why it ever had to go in.  Auggie still struggles with food and often gags on his own saliva.  Our doctor has recommended seeing an endocrinologist next.  He is still not on the CDC growth curve for weight and is about 15th percentile for height, a drop since we last had him measured.  Could we be looking at a hormonal imblance or a thyroid problem?  My gut tells me, no....Adding another doctor to our list means more bloodwork and other work-ups.  I'm on the fence. Update: His wrist x-ray showed his bone age to be at 3 years of age when it should have been 3 and 7 months. The doctor determined that he was not lagging enough behind in growth to necessitate seeing an endocrinologist.  Usually a lag of 12 months warrants seeing an endo doctor. 

Audiology assessment

I guess we weren't done with seeing specialists just yet.  After three visits, the audiologist determined that Auggie's left ear is fully functioning, but not so sure about the right ear.  Let me tell you, it's not easy to perform a hearing test on a 2 year old - near impossible!   Yes, they have toys and distractions, but as the mother, I had to constantly pull new tricks in order to persuade him to cooperate.  Although I'm reasonably sure that his hearing his fine, until he is older we won't know for sure. The good news is that his speech and learning should not be affected even if he has some sort of hearing difficulties with his right ear.

Speech therapy - just another one to add to the list

Auggie started speech therapy in March when an assessment showed that although his receptive skills were above average his expressive language was behind by over 40%.  We are lucky that our speech therapist was his feeding therapist and that she knows him very well and she comes to our house twice a week!!  Very lucky!  Since she started working with him we discovered that he may have speech dispraxia (speech motor planning difficulties) which makes it difficult for him to speak clearly.  His speech has improved so much in the months since he started therapy...of course, it could just be that he is developing, but therapy has given him a clear idea that we are working with him to improve his speech and he is given tools so that he can help himself when he has difficulties - I would highly recommend it if you are in the same boat!!