Cerebral Folate deficiency and toilet water

We have a few new things going on this month. First, Jonah will be getting new leg braces. We met with CHOA to have Jonah’s legs casted for braces that will hopefully give him more support and stability. This is a sort of gamble on whether it will work or not but it’s the last option orthopedic has. If we can teach him to use a reverse walker he would benefit greatly but we are still waiting for CHOA to find one for us and once we do can he learn to use it? We shall see. 
Second, we are adding in a heavy dose increase of Folinic Acid. We received the results of his Folate Receptor Antibody Test or FRAT test. This test showed us a positive result for Cerebral Folate deficiency. Folate is a B vitamin that plays a critical role in brain development and function. Your body uses it to make DNA, produce red blood cells, and support the nervous system. In most people, folate travels from the bloodstream into the brain through a transport system called the folate receptor alpha (FRα).

In children with CFD, this transport system is disrupted. Folate can’t get into the brain the way it normally would, so even though blood folate levels may look fine on standard lab work, the brain is starving for it.

Cerebral folate deficiency (CFD) is a condition where the brain doesn’t get enough folate, even when folate levels in the rest of the body are normal. It can cause developmental delays, speech problems, seizures, extreme fatigue, and more.

Jonah started taking a pure folinic acid a year ago and within 24 hrs of taking it he began using a straw for the first time and took his first unassisted steps. We were in shock. The walking didn’t last but a few days but he continued to use a sippy cup from that point. We know he benefits from it. He has been on a low dose until we knew for sure what the status of his Folate was. With this new information we are told to DOUBLE his dose. This has posed an issue. When we increase it, he cannot tolerate it and becomes agitated, irritable and not himself. We have tried to do this slowly, but we are still struggling to increase the dose even slightly and we are nowhere near where we need to be. We have been told we may need to take it very slowly and hold the dose for a week to allow him time to adjust. (if he will) So with that said please be in prayer that Jonah will be able to start tolerating the increase of the folinic acid so that we can get this vital nutrient to the brain that he so desperately needs. 

Lastly, we will have our first follow up with Dr. Stewarts Office in Texas. This will be a virtual appointment. I’m looking forward to telling them all the progress he has made and how this peptide has changed his daily life and see if there is any changes they want to make. 

Another small change we have noticed is that Jonah is intentionally seeking out music. Jonah has never liked music and has always screamed at any noise, singing, music etc. This week for some reason he has decided to start pressing all the buttons on the toys that make noise, sing or play music. He likes to press them over and over at the same time for hours. So that been fun. Haha The fact that he is pressing all the buttons and effectively working the toys is also a huge milestone. 
Earlier this week Jonah crawled to the bathroom and investigated the toilet. He has never moved about much in his environment nor has he ever been curious or explored. When I found him splashing in the toilet water and unrolling the toilet paper I was overcome with joy. That sounds funny but, I was seeing my boy getting into dirty boy things and it's something we don't get to experience. I snapped a pic to send to dad and we got all washed up! 
These simple abilities are overlooked to the average person. For us they are major improvements. Do not take for granted your child's ability to do small things like press a button on a toy to hear it sing, or finding them making messes and getting into stuff. It's a blessing in disguise. 

Thank you all for the support and love!

-The Mabes