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

We had a good Christmas

We had a pretty good Christmas. Andy didn't have too many outbursts. He enjoyed new musical toys like pianos and trucks. I was worried I would have a really hard time with him out of school for two weeks. He has been manageable. When he has outbursts, he usually just needs time alone in his room, and often falls asleep.

Three weeks off of Abilify

Andy has been off Abilify since November 30th. It's been almost three weeks. I've been looking for signs of withdrawal, but don't really see any. He is still on Trileptal, which is a mood stabilizer. When he is having an angry outburst, and he receives 3 ml of it, he calms down within 20 minutes. He is getting it twice a day now. I am not interested in weaning him from the Trileptal just yet, but my husband would like to in the future. He is still having constipation issues. So, I keep a diary of how often he is having bowel movements and the size. I was told by a nurse to continue to give him a stool softener daily. Also, if his bowel movements have only been very small for several days he gets stool softener more than once a day, or something else to make him have a stool. This usually helps his behavior, and a low appetite to get better. The iPad is working again, so he really enjoys his interactive musical games, such as the Itsy Bitsy spider, by Duck Duck Moose.

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.

Time for some changes

I hit another breaking point on Friday, and canceled all my son's physical therapy appointments. My son has gotten to know our therapy routine, and when its time to drive there, he cries the whole drive there. He knows where we're going, and he protests it. He often has to be calmed during the therapy visit, and it starts to feel like a waste of time to me.

I feel that my son can only handle 8-12 weeks of therapy at a time, and then he needs a break. This has also been noted in research articles that sometimes short bursts of therapy are more effective. My son seems as though he's had enough for a while, it's just a gut feeling I have.

On top of all of this, I have been feeling sad and depressed again about my son's lack of progress. I see other children in his class progressing, and they seemed to be able to do less than Andy in the beginning. This was true when he was in the 0-3 group as well. All the other kids would be advancing so much, but not my Andy.

I'm going to finally seek out a counselor now. Before my sadness completely overtakes me. My doctor gave me a recommendation, I just have to call them. I know what it feels like to be so far in the hole that it's hard to get out, and I'm halfway there. I can just be at the grocery store and start crying in the aisles because of my son. Or driving in the car, and start crying due to sadness about Andy. It's starting to affect my normal functioning. So, it's time.

The caseworker came today

I called our county mental health department to ask for help with my son's constant crying last week. The caseworker came today and met me and Andy. I cried a bit when asked how I'm dealing with all this. Andy cried a bit too, in spurts. He watched Dora the Explorer, and Yo Gabba Gabba to keep calm. It worked a little.

The visit took two hours. I had to hand over copies of financial documents, and medical documents and tell of my struggles with Andy. I think the caseworker could see that I was struggling to hold it all together. I was genuinely having a hard time, and it came across.

They are supposed to provide a respite coordinator within 14 days. Then we should be able to start receiving weekly help with Andy. We will have to pay for the help, but that's okay for now, I just need the help.

I've hit my limit

I was finally pushed over the edge with constant crying and contacted the local health department to ask for help obtaining respite care. It isn't something that's easy to find online. Respite care, would be having a government worker come to my house once or twice a week, to help look after Andy.

Andy's doctor and social worker kept asking me if I had contacted them yet. I just wasn't compelled to pull the trigger yet. I kept thinking I would do it someday, and the day finally came. I just let Andy lie there and cry on the floor, while I made the call. The woman could hear his blood curdling screams, and she said they could come to the house in a week to "screen him".

They have to meet Andy in person to see how much work he really is. How bad off am I? How stressed does Andy make me? I've got to show them and state our case. Then we can pay a worker to come over for a couple hours here and there to help entertain him.

I just can't bear the full brunt of Andy's needs right now. It's worn me too thin. My fuse is gone. I'm calling my mom and mother-in-law as soon as he's been nonstop crying, and asking them to take him. I drop him off and take off myself. I have to right now. I'm just trying to stay sane.

Differences between a Lactose-free diet and Casein-free diet

Andrew's Rehabilitative doctor, who only sees children with special needs, had some information for me about Andy's diet. She suggested a month ago that I should remove dairy from Andy's diet. Telling me that for a lot of children, DAIRY in general can cause irritability. I agreed to remove dairy.

When I spoke to Andy's GI doctor a week later, I asked him if I could use lactose-free products for Andy, he told me yes. Andy has been using lactose-free milk, cheese and ice-cream for a month. When I next saw the rehab doctor, she further informed me about maybe trying to take Andrew casein-free, instead of just lactose-free.

She explained that lactose is the milk protein, and casein is a milk sugar. She said sometimes, the milk sugar is the problem, not necessarily the lactose. She said the only way to remove casein from Andy's diet is to remove all dairy products- completely. Lactose-free items still have casein in them, the milk sugar. She said often times if you are trying to remove lactose from your diet, you can safely do this by removing all casein, because where there is milk sugar, there is usually lactose.

I added that Andy doesn't get diarrhea when he has lactose, so I don't feel he absolutely has to be off lactose. However, he has been less fussy, but possibly due to his new anti-seizure meds. They have a side effect of helping curb irritability. I will continue to limit Andy's dairy, and see how he responds when he has a piece of cheese pizza or ice cream. If he becomes very fussy right afterwards, we may need to eliminate all dairy.

Luckily, Andy isn't a big yogurt kid, or milk-drinking kid. But it is when we have pizza, that lactose-free cheese may not be enough to keep the fussiness away. He does get a bit of gas after having dairy, so it could be making him irritable at these times. I need to observe further to know for sure what his diet needs to be.

The main take-away message I got from the doctor was, "When Andy gets REALLY fussy, what did he just eat?". And keep in mind a list of these foods to avoid.

Crying out of control tonight

Andy's crying is out of control tonight. I've given him Tylenol, and Orajel on a gum that feels broken in the molar area. We've turned up the air conditioning, dressed him in lighter clothing, talked to him soothingly. I walked him around and showed him that everyone is going "night-night". We told him that he gets to go to school tomorrow and take the bus. He seemed excited. But then when he lays down he is angry.

It could be the broccoli we had for dinner, or a tooth coming through. I just don't know. He has been crying for over three hours now. I am in my room with fans running and a white noise app running on my phone, because his constant whaling is driving me bonkers. I have to just not hear it for a while.

This is just what sometimes happens, and he has no way of telling us what is wrong.

Getting out of the house

I took Andy to my nephew's glow bowling party, and he did well there. He enjoyed when the black lights switched on and we were all glowing. I myself was invited to join a bowling league, and am excited to start it once a week. I will most definitely enjoy getting out without the kids, and not just to run errands, but to have some fun.