Snow!

I'm so annoyed with myself for not bringing my camera, but we went to the snow yesterday with the boys for the first time to go sledding. AJ had so much fun going down the hills. Dan and I took turns taking him down while someone held the baby. I was too scared to have him go down the hill. It was cold but not unbearable. There were lots of people, too, so parking was a little complicated. This is what it's like when it doesn't snow in your backyard. You have to drive to it. I'm so glad that Dan refused to let me throw his sleds away in one of my "Let's declutter" moments. I believe he actually pulled them from the trash can, but they worked very well. We definitely have to get some better snow clothes, though. Watching me on a sled was hilarious. That's something I don't ever think I have done. I was scared at first but kept wanting to do it again. It was exhilarating. I've never fancied myself as much of an athlete but maybe I could do skiing.

Piano Lessons

Today was AJ's first piano lesson. He was a little less enthusiastic as I thought he'd be, but I guess he's only 3 so it's to be expected. His teacher was so great and very patient. He learned where middle c was and got to explore the keys playing "Echo" with his teacher. His teacher would play out a rhythm and AJ had to echo it as best he could. When he wasn't being stubborn he did well.

Pup was hilarious tonight. Although I haven't heard baba in a while ( so sad...) he IS making a new noise. It reminds me of the sound you make when you prepare to play a trumpet. I can't really explain it. Anyway, he's pushing up on his hands really well now and is sitting up for a lot longer before tipping. I was told he doesn't have the instinct to put his hands out in front of him when he's falling so I have to practice on a ball....pushing him forward to get his hands out in front of him. It's weird as I don't know if AJ could do that....

I got in touch with a cousin from my father's side of the family tonight. We have spread the word about fragile x in our family and I'm not so thrilled to learn that many family members have tested as carriers. Thank goodness for Jules' doc who made the discovery.

OT Evaluation Today

Puppy had an OT evaluation today (Occupational Therapist) for fine motor, etc. So far, she said he's on track with typically developing kids so her recommendation was not to have OT at this time. He was grabbing things, pushing up on his hands, etc. That is, when they weren't in his mouth from all the teething. AJ kept watching saying, "Look, Mom, he's doing well." He and Daddy played with blocks while the therapist was here. She did say she had some concerns about some gross motor things. She felt he should be sitting up better at this point, but she's really not sure and would consult a PT to see if it warrants any physical therapy. So all in all, good news today. He was very smiley and happy. It wore him out so now he's. . .

Yum!

We took Pup to Disneyland for the first time.....an annual holiday adventure. He went on Dumbo, Pirates of the Caribbean, and others. Of course, with the exception of during this picture he wasn't at all fussy. It was a good day.

Here's A.J......He IS his mama's son for sure.

Pup tried carrots tonight. Liked them. His teeth on the top are really coming in. Drool everywhere and lots of hand biting. He's always laughing, especially at his big brother. It makes me happy. I just got the new issue of the Fragile X.org newsletter and there's an article in there by Jayne Weber that completely made me cry. It's all about the good that comes with having a child with FXS. I've been in a rut lately thinking about the future. Then I hear him laugh and I am healed. I'm having a really hard time lately, though, because as a teacher I have a few kids in my class with some special needs. One has autism and the other two don't have diagnoses but their behaviors are challenging, and they have definite learning disabilities. I think about Pup and what he'll be like when he's in school. Other teachers and even parents of other students are sometimes insensitive with comments about certain students, and I'm particularly sensitive to those comments now that I have my own child with special needs. I want to say, "Don't you know who you are talking to?" People don't get it.

OMG! I just turned around and AJ is playing "therapist" with Pup. They're doing "exercises."

Getting Brave

I've decided to start adding pics to the blog, as I love seeing everyone's photos. Here are AJ (aka Peter Pan) and Pup (the scary skeleton) in their Halloween costumes. Pup is now almost 6 1/2 months old. AJ is 3 1/2. They are best buds.

Pup is really enjoying solid foods. He's now eating sweet potatoes, squash, bananas, cereal, and started applesauce. Yum! He's opening his mouth and gets excited when he eats. (Don't we all?)

Top teeth are coming in.

Thanksgiving Therapy

So, as usual I ate my way through two days of Thanksgiving festivities. The 4 pounds on the scale prove so.....Pup had sweet potatoes. He is really getting the hang of eating from a spoon. He will open his mouth, take the spoon, and then put his fingers in his mouth. Sometimes I have to hold down his hands to feed him. Last night at the mother-in-law's Friday Thanksgiving feast, he cried in between spoonfuls. He couldn't get it fast enough.

Pup had Lucia (the infant teacher) come out on Friday. She didn't want to miss a day! He lasted the whole session without getting fussy. He's finally doing better on rolling over from stomach to back although he doesn't really do it unless prompted with a toy, etc. She told us to start massaging his hands open as she feel that's one area is a bit behind in. She feels his palms should be open more. He resisted her massaging them as they were pretty tightly closed. He did, however, sit up for about 5 seconds before falling to the side. She told us to just keep him on the floor as much as possible and gave us a list of things to tell the OT (occupational therapist) for the evaluation on the 10th. I'll take a 1/2 day that day so I know what's going on. It's hard to work with therapists,etc. coming to your house. Lucia said that the OT will come 1 to 2 times a week depending on his/her evaluation on top of the time Lucia comes! I asked her how many times she thought he may need depending on her work with Pup, and she said it'll depend on the OT. She said that it will also depend on how Pup does during the eval. If he's really fussy, etc. and not wanting to do anything he may get 2 times a week. I don't really know which is better? Is more times a week better?

I keep worrying that he can't hear me based on the hearing test. I mean...I know he can hear, but I don't know how well. Dr. K. said it was like he had a finger in one of his ears. I've been putting my own finger in my own ear and it's not pleasant. Maybe I should just stop. haha

So thrilled

I came on here tonight and didn't realize that people were posting comments! I'm so happy you are all reading.....
About the eye contact... I agree with all of you. If he's a comfy distance away he'll stare right at you. At his well baby exam last week (6 months!) the regular pediatrician said he had a slight gaze aversion also. But I think he was looking for it because he had just read Dr. H's report. I'm not discounting the fact that he has FX, but I don't think he would've thought anything if he didn't know Pup had fragile x. What baby stares at your face for 10 minutes! He's doing well and that's what I'm grateful for this Thanksgiving. Considering I prepared myself for a floppy, poor feeding, etc. baby during my pregnancy so far I've been blessed. I hate Fragile X and what it's done to my life. I'm tired of analyzing everything he's doing. I just want to love him and I think that's what I'm going to do.

His ears have to be watched as he didn't do well on the right side on his hearing test. He may need tubes although he hasn't had any ear infections.

Anyway, I think Pup started saying baba tonight....I can't be sure but it sounded like it. Maybe if I believe it it'll be true.

AJ, at school today, said that on Thanksgiving he's going to eat PB and J sandwiches. I thought that was funny.

6 month well baby

Today was Pup's doc appt. He got his first flu shot. You'd never know he got four shots. No fussing at all. Dr. K. said that Pup is having some gaze aversion so I need to be "in his face" and rewarding him with smiles when he looks at me. This makes me so sad as in many ways I'm still in denial. He seems so perfectly normal..............He will also have to watch his ears as the right one is blocked. I'm hoping he doesn't need tubes.

DH and I both got to pick up AJ from preschool yesterday. We watched him through the observation room and saw him in the kitchen area wearing a necklace and bracelet. Then he went to string some beads. He's so funny to watch. The teacher says he loves school and seems very happy. He's still a bit shy, however, and doesn't really know how to approach the other kids when he wants to get into their activities. He'll ask, "What can I do?" to the teacher, and she has to help him join in. I love them both so much.

LAUGHING!

DH was making Puppy really laugh this afternoon. He got real close to his face and kept saying "I see you." Pup was hysterically laughing! It was so cute, and it was a first.

Minocycline Over

So, Puppy did really well on the medication. No reactions at all. I had to keep a weekly journal for the Dr. and did so. I thought about posting it here, but decided not to. When I went back up to the MIND Institute to reevaluate him after the meds, Dr. H. was impressed by his progress. Although I don't really know if his progress was because he was a month older or if it was the meds. Who knows.......as long as something is happening I should be happy. He became a lot more focused and interactive. He's laughing more, smiling, getting really stong. He's doing crunches, like a sit up and is balancing for a second or two in a sitting up position before falling over. He also rolled over from stomach to back (he was already doing back to stomach) a couple of times....but on this he's stubborn.

Pup also got his first two teeth! The bottom two and I don't think they're discolored which I thought might happen because of the meds.

Halloween was fun. Pup was a skeleton and AJ was Peter Pan. It was fun taking him trick-or-treating for the first time. Everyone thought he was Robin Hood. When one man asked him if he was Robin Hood he said, "No I'm Peter Pan." The man replied, "Oh, Peter Pan!" and AJ said back, "Yeah, whatever you want to call it." He's only 3 and the things that come out of his mouth are hilarious.

His preschool had a fall family festival last week. It was fun seeing him in his element. He introduced us to Teacher Tina, showed us his classroom, and of course....went to play in the kitchen area. He's such a crack up. He has access to so many toys but all he wants to do is pretend to cook and BBQ. DH and I will get him a kitchen or bbq for Christmas. I know he'll love it.

Even though he likes what he likes at school, he is venturing out into new things there. He chose to paint for the first time and is attempting to ride the tricycles they have there although he's still a bit timid. I hung his painting in his room where he wanted to look at it everyday.

Today was election day and I took AJ to the polls with me. He said he was going to vote for Aunt Kelly.

Day 1

Yesterday was Puppy's Second Visit to the Mind institute. New research has indicated that a drug called minocycline may have a positive effect on Fragile X. Dr. Hagerman proposed a 1 month trial with Pup.

Basically Puppy had a clinical visit, then met with the baby Research team, for several eye tracking tests. He also performed the Mullins and Vineland Assessments to give us a baseline of development. Puppy would then take the medication for 4 weeks and repeat the tests.

In the Fragile X Knockout Mice, the positive effects were seen over 8 months later. Side effects could include a graying of his teeth, but it was likely that his adult teeth would not begin to calcify until he was 6 months old, so this was the perfect window of opportunity.

Pup is the 2nd baby to try this. The first is a girl and I've been in contact with her mother who helped me in telling me how to administer the drug so Pup will take it. We talked about our concerns and how we were the first moms ever to have to do this. But we realize that whatever we do is out of love. I was very concerned about the fact that minocycline is not given to infants typically, but I was assured that it could only help. Tonight was the first night of administering the med. I fed him at about 7:00ish and then gave him the medication at around 8. I mixed it with apple juice and a bit of sugar and gave it to him with a medicine dropper. I think he got it in his mouth although there was a bit of spitting out. At least he took it. In fact he kind of lapped it up. Perhaps I made it too sweet! I immediately calle d Holly's mom (the other baby) to find out how she stored the rest of the capsule. We had a nice chat.

As part of the study, I was asked to keep a daily journal, which I will be posting here.

Rolling Over

Puppy rolled over today for the first time totally unassisted!!!!! He's only 2 1/2 months old. That's younger than AJ was. He was about 4 months old when he rolled over. So, that's one milestone achieved.

Today we hosted Fragile X Awareness Day for the family. D and I showed a FRAXA DVD, a powerpoint presentation, and everyone got a binder full of FX info. I felt like such an advocate for Harry. Everyone was so great, too. AJ slept through it but that was better.

AJ is learning how to dive in at swimming. He's also crying less. We've asked his teacher about hiring her privately after the session is over.

Next week Pup is going to the UC Davis MIND Institute to see Dr. Randi Hagerman. I'm excited about meeting her and her staff.

Firsts

Puppy has just started smiling! Unfortunately, today he has come down with his first cold. He's a little warm and is sneezing. Poor baby. We saw the pediatric specialist yesterday and he was awesome. He was so nice and actually knew all about FXS. This was such a relief. It was a little sad, though, because he noticed some of the little physical features Pup has related to FX. In my heart I felt maybe there was a chance it could be a false diagnosis. Now it's confirmed. His advice was for now just to love him and treat him like any other baby. We also finally had our first IFSP meeting yesterday. Puppy will start therapy this week. Our first appointment is on Friday to fill out some paperwork.

AJ will not stop crying during swim lessons. He keeps asking for mommy and daddy! At least he's not being disrespectful. And although he's crying, he's still swimming and doing well! He's been dong a lot of planting at Grandma's house. He enjoys this.

At last!

Today, our service coordinator called. Puppy has finally (after a month of waiting) been found to be eligible for services. We have an meeting on Monday morning to talk about his goals and hopefully therapy will begin soon after. He's starting to smile and it just melts my heart. I'm just dying inside because at some point his delays will become noticeable and all of this will be real. At 2 months of age you can't tell. He looks normal, he's acting normal, and sometimes I think to myself that the test was wrong. What if he was misdiagnosed? I know it's not true but my heart wishes it so.

Today my mom and I took the boys to the park. AJ refused to go into the water fountains and wanted to lay on the blanket. His shyness is really bothering me, but I guess if he's content I shouldn't worry. His swimming is coming along although he's been giving his swimming teacher a hard time.

MIND Institute

So, the UC Davis MIND Institute called today! They want to see Pup next month and make him part of their baby study. I'm thrilled to be seeing Dr. Hagerman, one of the renowned doctors in Fragile X research. I'm a little worried because it's possible that AJ could be a premutation carrier. They want me to have him tested. I thought for sure he was spared.

Yesterday was J's baby shower. We had a great time and AJ's swimming is really coming along. Of course, today at swimming lessons he wasn't as brave. At least I know he can do it.

Thrilled!

I'm thrilled about the July 7 Time Magazine. There's an article all about Fragile X Syndrome. Never before had I ever even heard of it. Now, it's in a national magazine. It couldn't just be coincidental. I don't believe in that. Now, maybe if people ask me what Puppy has they'll recall the article they happen to see in Time Magazine when I tell them. At least there may be some awareness. I feel like it's this orphan disease....all alone out there.

Anyway, it's been a good week. We spent the 4th at Pop Pop and Mimi's. AJ swam with his uncles. DH didn't come. He's still not quite ready to socialize. I'm hoping he'll get over that soon. We have his brother's and my sister's baby shower this weekend. He needs to be cheery.

Day at the Park

Today my mother and I took Puppy and his older brother, my 3 year AJ, to the park. AJ had so much fun running through the sprinklers. I'm trying to get him to play with other kids as he's so shy. He kept running up to the water and then right before approaching the other kids he would run back saying he couldn't do it. Eventually he went in. I'm hoping preschool, which starts in August, will make him less afraid and more social! He's my angel. Puppy just chilled out with his Grandma who packed us a nice picnic of sandwiches, drinks, watermelon, and cookies. After, we went back to my mom's house where AJ played with my sister's new dog, a Boston terrier named Scotty. I wish we had a big enough place for a dog.

Doc Visit

Today was my post partum appt. It's been 6 weeks since the baby has been born. My OB says she is going to start screening for Fragile X Syndrome. I am thrilled! Maybe another woman can be spared not knowing this is in her family.

First Evaluation

Today an occupational therapist came from our regional center to evaluate Puppy. She was very sweet and well meaning but I couldn't help but become angry when she left. I have read so much about FX now at this point and have spoken to so many people that I am kind of aware of what to expect as my son develops. She said that she didn't know much about FX, but had looked into it before coming to our house. She said that he may not have any delays and he may be just fine. I asked her how that was possible and she just said it was. Now, I know that's true for girls, but it's not true for boys.....is it? Wouldn't that be great? Anyway, she said the baby should start receiving services (probably 1 time a week) within the next couple of weeks.

Anyway, Puppy, 5 weeks old, was able to track objects and has good muscle tone. He's easy to soothe and has a nice temperament. This is what she told us.

First Meeting

Some background first:

Fragile What? I had never heard of it either. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism. It is second to Downs Syndrome as the leading cause of mental impairment. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control (CDC)). About 1 in 259 women carry fragile X and could pass it to their children as I have. About 1 in 800 men carry fragile X; their daughters will also be carriers. Many carriers also face side effects. It is carried on the X chromosome, so women who are carriers have a 50/50 chance to pass it on to their children. Men only pass it on to their daughters.

There are two mutations of the gene: premutation and full mutation. Carriers have a premutation of the gene -- like I do --where there is no mental impairment but other side effects. My son has a full mutation, which means one gene has shut down causing delay and mental impairment. Every persons X gene has a ‘repeat’ number. Normal people’s repeats are less than 55. Carriers like me, our repeats are 55-200 and once the gene mutates and repeats over 200, there is a full mutation.


We call my son Puppy because he grunts and winces like one. He's adorable. He's five weeks old and he has Fragile X Syndrome. Puppy was diagnosed at 2 weeks old and this is rare as most parents don't receive a diagnosis until their kids are older. He was diagnosed so early because I learned I was a carrier at 28 weeks pregnant. My sister, also pregnant, had an OB who screened for Fragile X Syndrome. She learned she was a carrier and told me I may be one, too. When I got screened for it, sure enough, I, too, was a carrier. I chose not to have an amnio as the baby was coming no matter what. When Puppy was born we had his blood tested. Sure enough, he was diagnosed with a full mutation. The news (still so fresh as it was only three weeks ago) is still very fresh as is the wound. We have been pretty proactive in terms of getting him some early intervention. We even have an OT coming tomorrow for an infant evaluation. I'm hopeful that with early therapies he will be able to reach his full potential.

I guess I am the most concerned about my older son. He's 3 and does not have the fragile x gene. One of the only reasons I had another child was so he could have a friend, someone to be with when my husband and I pass. I feel like this will not be the case now and that maybe I've created a burden for him. I know that Puppy's only 5 weeks old and I shouldn't even go there yet, but it's hard not to let your mind go to the darkest places. Anyway, I need to take it one day at a time.

So anyway, my husband and I went to our first support meeting today. It was so great and I met some fabulous moms. It was nice being around other parents who know what fragile x even is. Fragile what??? is what most people say when I talk about it. This is very disheartening, but it was awesome to be around other parents who have experienced what I will be going through.