Revisiting a geneticist, Helpful Facebook groups

I belong to several Facebook groups, and some Yahoo email subscription groups. They are groups created by parents of children with special needs. You do not have to be "friends" with people in the group. You just have to request to join the group and wait to be added. They are very helpful, especially when parents have questions about behaviors their children are exhibiting.

Upon reading some comments from parents about their children and Microcephaly, I came across a girl with a genetic mutation that sounds like what Andy has. It is called a FOXG1 mutation. The syndrome is similar to Rett's syndrome, but is unique and has become it's own syndrome. The children who have this syndrome have never had a period of normal development. Symptoms that Andy exhibits are:

Microcephaly
Agenesis of Corpus Callosum, or Hypoplastic/thin CC
Inconsolable crying
Severe developmental delays
Hand washing motions
Vision impairment
Facial abnormalities-according to doctors
Non verbal
Non walking until between age 8 and 9

I have contacted his geneticist, which he hasn't seen for two years. I've been told it is good to keep a once a year relationship with geneticists, in case any new testing comes about. Andy has had several genetic tests in the past, but none have totally seemed to fit him. He was tested for:

Angelman's syndrome
Factor X
Prader-Willi
CGH micro array to test for duplications and multiplications of genes

If I can convince the genetic counselor, Andy will get tested for mutations in the FOXq region, which would include any of the FOX syndromes. The FOXG1 syndrome causes a truncation of a gene that makes important proteins for the brain. When the brain is deprived of these essential proteins, severe delays in cognitive and physical development occur.

The blog that lead me to this syndrome can be found here: http://meredithannelewis.blogspot.com

Weaning off Abilify

I have weaned Andy off the Abilify. At one point, he was taking 5ml a day. It didn't seem to help much. He still has outbursts, whether he is on it or not, so I am taking him off.

I decreased him by .5ml each week. It took ten weeks. He had constipation several times during the weaning process. The main change I've noticed is that he is not as sleepy. Some days he does not want to take naps, but he will lay in bed for a quiet period though. The first night he was totally off Abilify, he did not go to bed until 1am. He did take a late nap on this day though. His body is slowly adjusting back to his regular sleep schedule.

I believe he is just getting older, and this is the main reason he isn't napping as much anymore. My feeling was to see how Andy's behavior is without Abilify, because I think he is just irritable Andy no matter what we do. He has happy times, and outburst times. During the outbursts, he is put in his bed, which he can't get out of, until he calms down. He cannot get out of his bed, because he still cannot sit up on his own. He can only roll around, and pull himself with his arms, like army crawling.

I have started up the orange flavored fish oil again. Once a day, he gets it with yogurt or ice cream. He's been getting it for about a week. I use the Omega-3 squeeze packs for him. Since the medication has been removed he seems a bit more alert. He is still on Trileptal for a "calming effect". I am going to start weaning this as well, after I talk to his nurse practitioner.

Just feeling upset today

Just feeling upset today about Andy not having all the opportunities that other children get to have at this age of almost three. He can roll around, but cannot get into a sitting or crawling position on his own. It makes me so angry sometimes, I just have to let it go, so that I don't go crazy. It's also very hard to be around people, especially family members with normal kids, when all they want to do is complain about their kids.

I don't know what the future holds for Andy, so I can't get too upset for what I don't know of yet. I just try to have joy with the things he loves right now.

Like listening to music.

And going to school.

This is just such a difficult path, I feel that I have to think differently than other parents, in order to keep my sanity. And just have faith that everything will be okay.

We are trying supplements for developmental delays

The last few months, I've been lost again. Down about Andy, and feeling hopeless. He is now 30 months old, and no sitting up yet, or crawling, or pulling to stand. He does roll around. After a lot of prayer, not only for Andy, but for myself, I feel compelled to try supplements for Andy. I've been asking for strength to keep leading Andy in the right direction, and find him the help he needs. PT, OT, I've lost faith. After a year and some change, we've really seen no results. We just have the school therapists visiting right now, I don't feel the "extra" therapy visits done in a private office are benefiting us at all. Just more of the same.

Now on to the supplements. We, as a family, have all started taking fish oil/ omega 3 gummy vitamins. The kids are taking lil' critters omega 3 vitamins. They contain DHA, which the brain loves, so I love it. I also got adult ones for myself and husband. After visiting the Vitamin Shoppe, I am now trying an orange flavored fish oil "squeeze pack", which has 2000mg of fish oil in it. Nearly 300% of what you need. The kids are getting a small amount on top of their gummy vitamins, which only contain around 200mg of fish oil. The squeeze pack can go right into your mouth, or into a small cup of juice, smoothie, or in food.

I am seeing a difference after 2-3 weeks in myself, and in Andy. My memory is very sharp. I've always had a good memory, but now it's real good. No more mom brain, the haze has lifted. With Andy, I'm seeing him progress slightly faster than usual. His usual progression is pretty non-existent. He's been at a 9 month level for a year and a half. Now he's clapping his hands, pointing more, trying to push up on his hands, and just seems more awakened. He gets his omega 3 vitamins every morning after breakfast, they are right on the kitchen counter so that they are easily accessible. He can chew them up on his own, which is a blessing for Andy. They taste like a fruit snack.

I have also pursued L-carnitine supplements. I spoke to Andy's Physical and Rehabilitative doctor about it first. She says it is a common part of the treatment regimen for kids with Mitochondrial disease. But since Andy hasn't officially been diagnosed with anything, besides brain underdevelopment and hypotonia, she didn't suggest it for him. I have discovered that it is also used for kids with autism and ADHD, and has gotten results of a better attention span, increased focus, and reduced hyperactivity. Fragile X kids also get the benefit of reduced aggressive behavior from it. So, what can it hurt to try?

The main reason I want to give it to him is to increase his endurance. Kids with low muscle tone tend to fatigue quickly. I want him to be able to work with me for longer periods of time before getting tired and cranky at home doing PT stuff. I read that too much L-carnitine can cause stomach upset, so I am proceeding with caution and starting out with a low dose.


The L-carnitine is a liquid, also from the Vitamin Shoppe. It is raspberry flavored and tastes really good, like a raspberry freeze pop. I draw up one teaspoon into a medicine dispensing plunger from the drug store and squirt it right into his mouth. The treatment regimen for someone with autism or ADHD is 500 to 1000 mg a day. I am giving Andy 1 teaspoon after lunch, and 1 teaspoon after dinner, or breakfast and dinner. This amounts to about 700 mg a day. The first day, I only gave 350 mg (about one tsp), and watched for stomach upset, but didn't see any. A much higher dose l-carnitine can be purchased, but I started out with the lowest dose one.

I like what I'm seeing with just a few days of L-carnitine. Much more movement, he has more energy to pursue movement. He is more rambunctious, and I can push him further in his gait trainer, and in four point. He is trying harder to sit up from the floor. I think he simply has more energy and endurance. I've been amazed at what I'm seeing with first, three weeks of the omega-3, then introducing the L-carnitine just over the past week. I researched the internet for answers about developmental disabilities and supplements, and found scholarly articles showing positive results from both supplements. It was good enough for me. I am still waiting to see if this supplement will have a negative effect on his naps. If so, I'll have to cut it back, or cut it out.

If this works, it could be the beginning of Andrew catching up to his age. I'm thinking if he can catch up a few days every week, maybe he can make up a few months soon. The DHA bath his brain is getting, has to be good for catching him up to speed. I am doing it for myself as well. I figure I am not actively trying to learn anything right now, so I thought maybe I'd try to start learning a language or studying something to see how well I can pick it up. We learn what we need in college, then stop pursuing learning when we're done. Maybe, if I pursue learning something new, I can start to pick up some new skills just like I'd like Andy to.

I'm excited for both of us to give these supplements a good trial, for at least 6 months. So, I'll see where we are both at by Andy's third birthday in May.