It's been a year since I last updated and with it just being Glycogen Storage Disease Awareness Week, I thought it would be a good time to give an update on Blake. 

In short - he's thriving and doing incredibly well! He is 17 months old and is the absolute sweetest!

If you'd like a more detailed update, keep reading. Because Blake has so many different things going on, I thought it would be easier to write a little bit for each doctor that he sees.

• GENETICS/NEUROLOGY - Dr. Dobyns is the geneticist and neurologist that we started seeing while I was pregnant with Blake. He is the only doctor Blake sees that has seen other patients with Blake's brain abnormalities. We saw him in May, when Blake had just turned 1 year old. He has always thought the abnormalities in Blake's brain were caused by an injury (probably a stroke) in utero rather than a genetic issue. He continues to think this and therefore we have not done any genetic testing for this issue. The left side of Blake's brain did not form normally. As he's grown we see evidence of this in his right hand. His left hand does all the fine motor tasks and he uses his right hand to hold things. We are working to help his right hand be functional for him, but we realize it will never work as well as his left. In the last month, we have seen him use his right hand a lot more and it's really encouraging.  Dr. Dobyns was very pleased with Blake's development and is encouraged that the right side of Blake's brain has compensated so much. We will see Dr. Dobyns again when Blake is 2 years old.
• NEUROSURGERY - Dr. Sandoval is the neurosurgeon that put in Blake's brain shunt and follows him to watch how the shunt works and is managing the fluid filled cysts that are in the left front part of his brain. Since his shunt infection, he has had a checkup with her every 3-6 months. He had a Quick MRI and check up at the end of September and everything looks good. His brain looks basically the same as it has been in past MRIs which means the shunt continues to work. Pending no issues, Blake can wait 1 year until his next neurosurgery check.
  • Speaking of issues...On a recent visit to the ER (no problems - just a virus) we found out through x-ray and MRI that Blake's shunt was on the wrong setting. It should be set at a 3 and it was a 1. (1 is the fastest drainage rate - 5 is the slowest) The setting was checked at his visit in September so it somehow changed sometime during the month. The neurosurgery nurse practitioner changed it back to a 3, but was pretty baffled as to how it had changed. She said there is really nothing out there that can change the setting on his type of shunt. We are hopeful this was just a fluke, but we will go back in a month to get the setting checked. If it has moved again, it means there is a malfunction of the shunt and it would most likely need to be replaced. We are praying hard that is not the case. Your prayers on this topic are much appreciated.
• POMPE DISEASE - Dr. Pillai is the geneticist that follows Blake for his Pompe Disease. Every 3 months Blake gets blood drawn and a urine sample taken. One is sent to Mayo, one is sent to Duke, and the rest are processed at the Fairview labs. We are watching for elevated numbers, especially if numbers are trending upward consistently over time. For the most part, Blake's numbers have remained in the normal range but have reached the high end of the normal range the last couple checks. Normally with Pompe Disease, doctors use these labs along with reaching milestones and Physical Therapy evaluations. Because Blake's brain abnormalities could contribute to him being delayed in gross motor, we really rely on the numbers from his labs as the guide to when he should start enzyme replacement therapy. He had a check up with Dr. Pillai a couple weeks ago and she is happy with his labs and his development. She does not think Blake will need to start treatment in the near future, but we will continue to get labs every 3 months to watch his trends.
• NEUROLOGY - Dr. Goldstein is a neurologist that follows Blake's seizures - or lack thereof! He has not had a seizure since being in the hospital with his shunt infection over a year ago. He started on 2 anti-seizure meds (Keppra & Vimpat) in the hospital in September 2022. His dose for both of those meds have never been changed. Therefore, his dose has actually been decreasing as he is growing. In August, we decided to wean him off of the Vimpat. We slowly decreased his dose each week for a month until he was not longer taking it. He has been off of it for over a month now and has not had any issues. He continues to take Keppra. He will continue to see Dr. Goldstein every 6 months.
• PHYSICAL THERAPY - Blake has physical therapy once a week. A physical therapist and occupational therapist come to our house every other week through the Help Me Grow (early intervention) program with Forest Lake Public Schools Special Education. On the opposite weeks he goes to physical therapy at a Fairview clinic in Maple Grove. The only area Blake is behind in is gross motor. He had worked hard in PT to gain head control, learned to roll over, and can sit stably. He is currently working on sitting up from laying down independently, crawling, and standing. Just about a month ago, he finally crawled by himself and we celebrated! He doesn't get his head off the ground, but he's able to move on his own. He has been using a harness type stander at Fairview and is able to "walk" around. The school district provided us with a stander that we can use at our house so he can stand while playing. He has made so much growth in weight bearing through his legs. Now that he is more comfortable standing with these assistive devices, the PT at Fairview recommended he get fitted for AFOs (ankle/foot orthosis) to help with ankle stability when standing. We are so proud of Blake for all his hard work and love seeing him learn new skills.
• OTHER - Blake had a helmet to help correct the flatness of his head. He had it for about 4-5 months and it helped his head shape. Blake is also followed by neonatologists and a neuropsychologist just because he was in the NICU after birth and has so many issues going on. They are very pleased with his development and their assessments show the same findings as all the others - the only developmental delay Blake has is in gross motor. He will see them again in 1 year.

Blake is so much fun! He is smiley and loving. He loves his big brothers who play with him and make him laugh all the time. We will continue to celebrate his successes and give him all the support and extra help/resources that he needs. We are so fortunate that my parents come to our house and give Blake full time care while Brian and I are at work. They are there for all his PT appointments and work hard on PT exercises with him throughout the day. He is so lucky (and so spoiled) to get all the attention when his brothers are at school. 

If you are the praying type, some specific prayers could be:

• keeping his numbers down and delaying enzyme replacement therapy for Pompe as long as possible
• his current shunt working properly and no revisions needed for the near future
• continued success and growth in all areas of development, but especially gross motor

We appreciate all the love, the questions about how Blake is doing, the prayers, and the support we continue to receive. Blake is such a blessing and we look forward to watching him grow!