Adele Medical Update

Anne has started to journal or search for answers on Adele. It continues to be a confusing and unclear experience, but her doctors are narrowing it down. She continues to make slow progress with her physical and occupational therapies. Speech is still the most challenging for her. Its hard to explain to people that it is more than just being a little behind, but as she gets older this is becoming more apparent. Her big brother Sam has been so great with her as he tries to engage her into play, he even chooses age appropriate toys for her. I am thinking it might be a good idea to post some video of her too, to keep a visual record.


Neurology Visit 7/2/09
Dr Van Dyke

Dr. asked a variety of questions, does she have:
• Jiggly eyes? (no)
• Sharp jerking arm movements with clenched fists? (no)
• Diarrhea? (yes long bout recently, but not constantly)
• Sleeping through the night? (mostly but not really?)
• Any family members with metabolic problems? (celiac disease)
• Feeding problems (yes)
• Food intolerances (not sure)
• Startling (yes)
• Move her eyes upward, look up (not really)
He also asked about:
• Whether I had found out any more about circumstances of pregnancy, i.e. cyst they saw in Adele’s brain on the ultrasound, early threatened miscarriage or state of placenta (I said not really)
• Results from ophthalmology visit with Dr. Liu (I tried to remember anything beyond pseudostrabismus, but it was difficult to remember if they dilated eyes or not)
I mentioned:
• Arm movements that she can’t control, fists to face, head shaking
• More progress with gross motor than fine, not able to feed self/put things in mouth, not pick up items with hands, esp. pincher grip, little to no progress with speech
• Interested in other people, enjoys smiling at others she recognizes
• Cannot mirror other behaviors, sounds, movements, language
I forgot to mention:
• Night terrors (they have subsided somewhat)
• Feet twisting together when upset (to the point of minor cut from other toenail)

Dr. stated that she still shows weakness on the right side of her body, with both foot and hand. This indicates her left side of brain is not working properly. He explained that the MRI was normal, so there is no visible damage to brain. He did say that her language delays were consistent with the side of her brain that doesn’t seem to be functioning well. If she were older, say 2 to 2 ½, he might consider diagnosing her with mild cerebral palsy – however he doesn’t like to put that on a child so young because sometimes those things resolve. He said that she was ‘interesting’, and that he ‘wanted to follow her closely’. He wants us to go to Dr. Liu, then see if it would be appropriate to take her to Dr. there who is neuro-opthalmology at MSU. He wanted to know what Dr. Reynolds (pediatrician) thought might be going on with her.
He stated that he wants to do a few more tests to rule out some metabolic disorders that aren’t screened routinely. He said they are rare, but he wants to check. He ordered “Urine Catecholamines” and “Niemann-Pick C” tests, which at least one of them has to be sent out to the Mayo Clinic. The diagnoses he ordered them under was 315.9 (Unspecified Delay in Development), and to rule out “Neuroblastoma”. [I googled these, neuroblastoma is a type of cancer usually on the adrenal glands, what the catecholamines is testing for. It’s a common cause of cancer in infants, but very rare. The Niemann-Pick disease C is a genetic disease caused by a mutation that interferes with the working of the lysosomes (organelle in part of cells that is used for breaking down stuff). Wikipedia says “large amounts of free or unesterfied cholesterol accumulates in lysosomes, and leads to relative deficiency of this molecule in multiple membranes and for steroid synthesis.” It also incredibly rare.]

Pediatrician Visit 7/2/09
Dr. Reynolds

Discussed her visit to Dr. Van Dyke (neurologist) that same day. She explained why he asked some of the questions he was asking. Discussed getting her additional speech therapy in addition to her OT and PT. She asked whether Dr. Van Dyke had discussed with us that if these tests come back negative, the possibility of autism. I said that he didn’t discuss it, he remarks on her social interest, although I have been reading about it, especially pervasive developmental disorder. Dr. Reynolds said that they often don’t like to diagnose so early, they like to use something more general until they can make a definitive diagnosis.
She made referrals to Sparrow Pediatric Rehabilitation, for all three services. She stated that BCBS may reject paying claims for things if they are developmentally related. She indicated that she would put the therapies under Dx that they would be more likely to pay for. Here are the diagnoses and the therapy they applied to.

Speech Therapy:
750.19 Tongue-tied, (sip frenul cc tongue)
728.87 Muscle weakness
299.9 Pervasive Developmental Disorder
Physical Therapy
728.87 Muscle weakness
299.9 Pervasive Developmental Disorder
783.42 Delayed Milestones of Childhood
315.4 Developmental Coordination Disorder (this is also known as Dyspraxia)
Occupational Therapy
728.87 Muscle weakness
299.9 Pervasive Developmental Disorder
783.42 Delayed Acquisition of fine motor and social skills
315.9 Developmental, delayed milestones