Five months ago our family made a 600 mile move in hopes of better medical care, knowing the potential and hoping for the best. It took sacrifice & a lot of work, but we did it for the boys. Here we are, 700 miles from any blood relative or anyone we have known more than a few moths! To say it’s been hard would be an understatement. To say it’s been fruitful is so easy. After being here a few weeks we made the appointments for the pediatrician and neurologist. We left the pediatrician with referrals for the cardiologist, eye specialist, OT, PT, ST, orthopedics, geneticist, and neurologist. We will see orthopedics soon but have already made more progress and have more answers than we have had in the years combined in three states down South. We only had one visit with the new neuro and she contacted a geneticist and got the ball rolling for our answers. Some of the answers have been really hard, some we already knew but didn’t fully understand. I was not aware of the complexity of their disability and certainly seeing it in black and white has been a shock of reality for me. Brynn is 17 years old with the mentality of an 8-year-old. Brett 12, with the mentality of a 6-year-old. Both of them have the fine motor control of 4-6-year-olds, which explains their handwriting and drawing being much poorer than Abigail’s who is six now. The disability is permanent and it’s definitely genetic. We have completed whole-exome genetic testing for Brian, Brynn, Brett and I and hope to get further answers in a few months. Brett has low GAA and low Creatine in his urine and Brynn and Brett will have more testing to try to lock down the cause for this. There are some signs in Brett physically that he has more going on than Brynn does and his epilepsy/intellectual disability has been more severe than Brynn. The geneticist feels that they have at least two syndromes/diseases and upon examining them feels that it’s very likely at least in part a metabolic disease.
Seizure wise, Brynn is still, for the most part staying on his great baseline average of just one seizure a week. He does still have the myoclonic hand/arm “twitches” but he doesn’t notice them and he doesn’t seem to be bothered by them at all. Some weeks he has no Complex Partials and some as many as four, but he has definitely leveled out cognitively and he appears to be at his max level in Homeschool. I feel it’s best to work with him for at least another year or two to make sure that he retains what he knows now. Brynn did spend some time in the hospital here to have an unknown growth on his colon removed. He may have some kind of vascular disease, it’s unknown at this point, but he was bleeding from the rectum. He had his last Tonic Clonic seizure when the third bout of bleeding happened. Not sure if it was fear or loss of blood.
Brett has some big seizure free days now, the newest drug Aptiom has had a great impact on reducing his seizure load, he commonly now averages 6 Complex Partial seizures a week. The VNS magnet is working for him most of the time and will stop a seizure as long as he is swiped pretty quick after seizure onset. This has reduced his need for rescue drugs dramatically. He still spends a good amount of time sleeping and has pain/weakness in his body. I believe that being further North has also helped him have less seizures and helped his asthma as well.
Both boys have adapted really well to the move and living here. Brynn has had some social communication therapy that has been a great help to him. Brett is on a wait list for Physical and Occupational Therapy. Brynn being older, they do not feel that he will benefit from Occupational therapy. His lack of fine motor control has been an issue so long, that he has formed the habit of writing that way. Instead, it is recommended that he use a program that will change his speech to text for written communication instead of occupational therapy and a recumbent bike for his lower body weakness will benefit him more than any physical therapy will. We have wanted to get the recumbent bikes for the boys for a few years now, but finances have not allowed it. Hopefully, we will be able to do that once things settle down a bit.
Brett and I will be going to a 2-week training program to receive his service dog in June. He is looking forward to finally having a real service dog after the heartbreak of the failed service dog Blue. The new program is a bit different and we will not know the dog breed or name until the second day of training camp, Brett is really excited to see his buddy!