Lots and Lots of Appointments

Jake's had quite a few appointments over the past two weeks, but we're happy to report that things are looking good!

• Swallow Evaluation -After several months of following up with his physicians offices, insurance approval, and scheduling difficulties with Children's Hospital we were finally able to get Jacob's swallow study completed. The test included an evaluation by an occupational therapist combined with X-rays in the Diagnostic Imaging Department taken by a Radiologist that evaluates food/liquids as they are ingested and swallowed. Jake tends to cough and choke fairly regularly when eating his solid foods, so his doctors wanted to get a baseline assessment and more detailed look to see what difficulties he is/may be having. Our little trooper had to drink the nasty barium concoction again (yucky) and was also given a cookie with barium baked into it, which he surprisingly seemed to like...go figure! The test revealed a mild swallow delay, but other than that everything looked normal! The occupational therapist was actually impressed that he's been eating such a variety of more solid textured food (e.g. grilled cheese sandwiches, chicken, goldfish crackers).
• Head Ultrasound (U/S)- When we went to New York his doctor noticed that Jacob's fontanel (a.k.a. soft spot) on his head still remains fairly open. Typically the soft spot is much smaller and/or closed by 18 months of age, but it can take longer. She requested that we have a follow-up head ultrasound to ensure there was no signs of hydrocephalus, which has been seen in children with Niemann-Pick. We received the results of Jake's head U/S back about a week ago and he does have some excess cerebral spinal fluid in his head , but  the fluid is not on his brain and his body is getting rid of the excess fluid so we do not have to be concerned about hydrocephalus. As a result, his soft spot may take a little while longer to close completely.
• Neurology Appointment - Jacob had his regularly scheduled appointment with his neurologist and he gained more weight! We filled her in on our trip to New York to see Dr. Wasserstein and gave her some information about Niemann-Pick disease. Again, Niemann-Pick is a very rare disease and very few physicians have seen patients with this disease, so Jacob is her first. That said, she remains in close contact with Jacob's metabolic/genetic physician at Stanford and his gastroenterolgist so in a sense she is Jacob's primary care specialist. It will be important for her to closely follow Jacob as she will be able to keep an eye on the neurological symptoms he may experience as the disease progresses. For now, he appears to be making some headway in his communication skills and is being more assertive on queuing us for when he wants things (e.g. reaching for his sippy cup, making noises to get our attention) -- good signs that he's still learning some new skills.
• Physical Therapy Evaluation - After speaking to Jacob's infant development specialist and case manager at the Regional Center for the East Bay, we decided that it might be beneficial to bring in a physical therapist once a month to join us for Jake's therapy sessions. Mainly, we want to get some different ideas and approaches to continue his motor skill development. It was a great session and we learned some new things to try in order to keep Jake engaged and supported in sitting and weight bearing positions. Our emphasis has been to focus on stronger sitting positions since he still can't sit independently and seems to be having more difficulty with sitting lately. We're currently working on some of the new therapy ideas, so stay tuned...

As you can imagine, running around to all of these appointments and partaking in all the therapy can make you quite tired. Here's a super cute pic that I caught of Josh and Jake one morning as I was leaving for work...

Like father, like son...