I recently received an email from a fellow mom with a 18 month old daughter who may have Fragile X Syndrome. She had found our blog and wrote me with many questions about the various interventions we have tried with Holly in particular her speech, and shared her story.
I wanted to thank her for sharing her story with us. I compiled a list of several things we have done with Holly over the past year and though it might be helpful for other parent’s too, so I wanted to share it here. I love knowing that other’s read my blog and find information here they think is useful or helpful. I remember when I was pregnant with Holly is was so hard to find anything about Fragile X girls, so please always feel free to email or write me, I am always happy to talk.
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Holly is now 31 months old, and she has been talking for the last 2 months or so. It is amazing for us, and we are so relieved. Her typical friends are still talking circles around her, and she still has about a 40% delay in her speech production, but to hear her finally repeat words and answer questions is amazing. So yes there is hope. Holly has the Full Fragile X Mutation, with over 1000 repeats. I have no idea what her future will bring, but as her third birthday approaches I fear she will not qualify for a special needs classroom, which is a mixed blessing. It means she is not delayed enough to qualify, but I know she would benefit from it and maybe fall behind without it, but let me back up a little bit.
Thinking back to when Holly was around 18 months we did several things, let me try and cover a few of them here for you and give you my opinions. We started Speech Therapy at around 14 months, and Holly did pick up on signs, she had about ten of them at around 18 months: More (meaning I want), milk, all done, bath, eat, Mom, Dad, cat (also her aunt's name) and a few other ones. She was only saying single syllable babbles like mamamam, and gagaga, and bababa. And today words where she has to move her tongue from the front to back or vice versa are an issue.
1) Mouth, tongue and lip Muscles: At 14 months we requested a feeding therapist, we saw her for three months. Holly was not a good eater, she over stuffed and she did not really chew her food. It is typical for kids with Fragile X to have low tone, or weak muscles. And although Holly presented with High tone in most of her body and had very stiff and rigid movement in her arms and poor rotation in her hips, Holly’s mouth and ears seemed to have low tone. As a result she had several ear infections, but I will get back to that later. If your child is a good eater the chewing exercises there mouth making it much easier to even form sounds. So aside from whether or not the child cognitively understands your words or knows what she wants to say to you, she has to have the muscle strength in her mouth to form the sounds. Working on feeding and chewing will help to strengthen these muscles allowing for more sophisticated sound production which is the building blocks for words.
2) Signing: Holly has really good visual processing skills, but at that age did not really have good imitation skills, so when the therapist would try to teach her signs she struggled If I recall she was not yet pointing or waving good bye, also her fine motor skills were delayed, and the act of forming the sign with her hands was also difficult. We showed her some videos, first was the Baby Einstein's Baby's First Signs, and later another episode “Around the Neighborhood”. Later we showed her the Baby Signing Time Video's, and eventually the entire “Signing Time Series, she especially likes Leah’s Farm and knows all of the animal signs. We practiced these while doing animal puzzles. Holly watched these like crazy, over the next year she learned more than 100 signs, ones I don't even know because she saw them on the video, and it engaged her. Most of these video's she watched first on my iPhone and later when she turned two on an iPod touch she got for her Birthday. So I didn't really see many of the video's as she watched them, and she learned signs I didn't know. This put me at a disadvantage when she would use a sign and I didn’t realize it. However, this only took her so far, because her way of signing (with poor coordination and articulation) several words looked the same, and only in context could I figure out what she meant, she also could not really communicate with her friends, or other parent’s in this way as they didn’t know the signs either. But it helped us get through that year, and allowed her to talk with Mommy and Daddy and removed a lot of her communication frustration allowing her to be more persistent with actual speech production, as she had a fall back method for communication. We later added some new tools to help her communicate more when her lack of fine motor skills stood in the way, I will elaborate later. I cannot recommend these video's more highly. She still watches them, now signing and talking along. I also feel like this has provided some of the benefits one see’s in young bilingual children, she has learned the concept that there are different ways to say a word, and her brain thinks in a different way than someone with only one language.
3) Medications: We visited the UC Davis Mind Institute and saw Dr. Hagerman. At around 18 months we were already giving Holly a High Dose of Folic Acid, one of the medicinal recommendations that Dr. Hagerman often makes. We felt like we had seen some improvement in her development on this medication, she was signing, when before at 12 months she was not, But at the time the differences were hard to discern. So Dr. Hagerman recommended Sertraline (Liquid Zoloft) there had been some studies that show in Fragile X the serotonin levels needed for language receptors were uneven and that this medication could promote a language boost. This was right around 19 months. We decided to give it a try, her dose was 2.5 Mg which is extremely small, when the minimum adult dose is around 25-50 mg. Well, we did not see a language boost, or explosion as some kids did, in Fact she stagnated and regressed. What we did see however was a huge increase in focus, attention, and a decrease in Anxiety. Due to these factors she made several other developmental leaps during this time, most likely through her work with her Infant Development Specialist (IDS, from the regional Center) But aided by the fact that the medication was allowing her to attend to the therapy sessions and learn. Only in hind sight when she turned 25 months and we went back to Dr. Hagerman did we realize that her regression in language could have been attributed to the fact that when we started the Sertraline we stopped the Folic Acid. Several things happened that Fall, We traveled to Florida for 4 weeks over Christmas (Missing a month of therapy) we stopped the Folic Acid while we were traveling and then due to her taking the new medication we didn’t want to give her too much at once, and we started a new Speech therapist in January. It took her about 3 months to connect to and respond to the new therapist. But upon our return to UC Davis 6 months after starting Sertraline, she was still not talking. We did know however that the Sertraline had amazing effects. In the Mullins and other developmental tests we completed, almost all of her skills increased more than the expected 6 months, many improved by 9-10 months and in some area’s she was presenting above age range where before she was delayed in all testing areas. So we are still continuing her on the Sertraline today. (We also did the Minocycline trial when Holly was 6 months old - see blog posts on this for more details - and will perhaps do so again at three. We also give her melatonin at night, as she only sleeps with it, for about 9 hours and without it takes 2-3 hours to fall asleep - as it is her bedtime is 10:30 and she is up at 7:30)
4) Ear Infections, Ear tubes : Over that Spring, Holly also had 6 ear infections and we discovered she was allergic to Amoxicillian. Due to her low Muscle tone in her ears, and as is very common with Fragile X kids, fluid would get trapped in her ears, so even when she wasn't infected she had this fluid, it was recommended that she had Ear tubes placed. This is the most common surgery for kids under 5, but was still scary. The doctors said the fluid was the equivalent to a 30% hearing loss, and that if she was not hearing words she would not be able to express them in any understandable way as she could not replicate the sounds properly. We ended up not being able to do the surgery until she was 27 months. However within weeks she started to talk. It was single syllable words only, but it made a huge difference, and we are ever so grateful we did this.
5) Picture Book – At around 21 months when we started with the new therapist we were not making a lot of progress with her actual Speech Production her Speech therapist worked with us on creating a picture book. This was icon cards, actual photos of things that she could give us to make requests. This was also huge. In combination of having the picture book and some signs, her receptive language tested at 29 months when she was only 25 months old using these tools her expressive language was at around 18 months even though her actual speech was still only at the 9 month level. Having the pictures however let us know she wanted to communicate, and allowed her to. We would have a page with all of her snacks or foods (Eggs, Apple, Strawberry, Cheese, Toast, Yogurt), one with pictures from the various TV Shows she watched Yo Gabba Gabba, Signing Times, and Ni Hao Ki Lan, Little Bear) Another with her favorite toys, (Playdough, Crayons, Paint, Stacking Blocks, Lego's, Puzzles, Trampoline, Ball Pit) and over time her book grew to about 75 cards. She had a page with her friends on it and her family members, so she could ask for people, and towards the end (after several months of working on this) she had action and descriptive words, like big, small, go, stop, want, give. Now this was a double edged sword. At the time I was not a fan of the book, I was frustrated that she was not talking, I didn't feel that it was practical to have this big book with me everywhere we went, I also felt that at some point she wasn't trying to talk or make words because she was just giving me the pictures, so this only took us so far. But in hind sight I now see how this helped her develop a huge language foundation to later build on. Here are a few notes from her Speech Therapist that I didn't know at the time. By using this book, Holly was learning to make a direct request, she was also learning how to initiate a communication, she would go get her book, find the icon and bring it to me, and then as we built up she was learning sentence structure. At first she would simply present the picture of yogurt, then we had a sentence strip and she would put a picture of Holly and Yogurt, and I would say, Holly Yogurt and give it to her, then later she would put Holly, the icon for Want, and then the picture of Yogurt. So even though she had little spoken language she was making three word sentences. Also, I think for a while the speech therapist was afraid she might not talk for a long time, and felt she needed to give her this communication tool, so when she was in school she could communicate with her care givers without words. These communication books are very common. But I still was not very strict with it, and didn't want to carry it everywhere, so I picked her favorite 30 or so pictures and the photos were in a folder on her iPod Touch, so when we were out she could look through the icons and find the pictures for me. I won't get into it here, but If you search my blog for the post about the ipod Touch, it is an amazing tool and we have about 200 apps for her; games, flash cards, many of them were free, all of the ABA (Autism) flashcards I was able to download, and these I think totally have helped her to increase her receptive language, she would spend hours flipping through the pictures and see the photo and hear what it was called. Obviously not hours instead of playing, but every time we were in the car, or while she was lying in bed winding down from a nap, or gearing up for the day (she likes to wake up slow), if I was shopping and she was cranky, at a restaurant when Mommy and Daddy were still eating. During our speech therapy sessions the therapist also has these cards, and her book must have thousands. So every game used them. If we played Mr. Potato Head, she would make Holly request each Item, so she would use the Holly, the Potato, the Eyes, and present that to the therapist and then she would get the toy eyes to put into Mr. Potato Head and so forth. Later we built on this and Mommy would get a Potato, so she would have to say Mommy eyes, or Holly Eyes, or sometimes she would have to pick a color, and ask for the Pink Eyes or the Blue eyes. Now Holly is a visual learner, so she picked up on this system rather quickly and at some point the sessions transformed from getting her to use the right cards and learning the system and use them properly to trying to get her to also say the words along with showing us the card. So still today she will sometimes hand me a card for Juice, be signing Juice, and also saying Juice all three at the same time (She wants me to know how badly she wants juice)
6) Apraxia - So at around 27 months we discussed whether or not Holly may have Apraxia. It is typical for kids with Fragile X to have Executive Functioning issues, and in her case Motor Planning issues. Since her receptive language was scoring so High, but her expressive was much lower (This is a common sign of apraxia), we felt that she could have an issue with Motor Planning. This is another reason the picture book helped so much. In order to talk, you must first hear what someone says or asks, then you have to process it, then you have to come up with a response, but then you have to tell you mouth how to form the sounds you need to say the words, and somewhere during that part there is a slow down or delay, so her response is slow and her ability to get her mouth to move the right way to form the sound is impaired, and especially with low tone and weak mouth muscles it is really hard and a lot of work to form the sounds at all, so often you get frustrated and give up. However in Holly’s case, and in most common cases, the act of using your hand to pick a picture and give it to someone takes less cognitive effort. So you focus on the communication task rather than the Motor Planning part. Now you do have to focus on the motor planning but that comes later after you have a better understanding of the communication process, and with Apraxia, when you are trying really hard to do something, that's when it doesn't work. It’s when something happens automatically that it comes out right. So because she didn't even have the foundation sounds or the know how to put them together yet, we were not focusing on that part at all, until after her ear tube surgery. When we started to hear more sounds then we worked on the motor planning to form words. We do not know yet if Holly has this, as it is hard to diagnose, but it is something you could look up and learn more about.
7) School - So in May of this year when Holly was 26 months we started her in a program called Small Voices. This is not day care or preschool, this was provided by the Regional Center and it replaced our infant development specialist. It is a program with 10 kids that is parent participation 2 hours a day 3 days a week. The "teachers" were an Infant Development Specialist, a Speech Therapist and an Occupational Therapist. I highly recommend that you ask your case worker if you have a program like this in your area, I think it has made a huge difference for Holly. Now she started it much older than 18 months, but there are other kids in her class who started at around 18 months. The program promotes sitting in a circle, singing songs, they use signs, attending to activities, interacting with other kids, and other adults, sensory activities, rice table, play dough, painting, snack time where they try new foods. She qualifies for this program until she turns three and ages out of the Regional Center. When she turned 30 months we worked on parent child separation, and I would leave her for the last 15 minutes, then 30 minutes, and progressively more until now I drop her off and pick her up 2 hours later, But I miss being in the class with her, so every other Wednesday I join in to see her progress and how she is doing. Upon my recent separation two things emerged, One was that she was highly dependent on me to help her focus on and attend to an activity. Without Mommy there, the teachers could see how much work she needed to stay focused. She is not a child who picks up on how to play things, she needs to be showed how to play with things, and she needs to have someone play with her, she doesn't play on her own. So now that the teacher's see how much she is bouncing around the room they can work with her on focus and keeping to the task at hand, finishing things she has started, ect. The second thing was that her communication and Speech has blossomed. I am not there to interpret for her, or to help her so she is forced to ask the teachers for help or even to talk to the other kids to get them to play with her, so even in he last few weeks her speech has made huge leaps due to these 6 hours a week, because she is interacting with , Not Mommy. Our life had no routine what so ever, we eat whenever, we napped at different times each day, so the case worker thought this program would help her learn routine, and socialization, it has done that and much more. Now I totally hear what you are saying about regular daycare/preschool, and agree that your child doesn't need this, but I feel like if you had access (for free) to a program like this one where you could go with her until she was old enough, or confident enough to stay on her own, for a few hours each week, I think it would make a big difference. It really is like a group therapy setting since the teachers are therapist. I also think that because they are the teacher and not the parent, they push the kids more then I would. I assume Holly can’t do a lot of things that she is now doing because her teachers let her try. She wasn't drinking from a cup, I am sure in part to me not wanting to clean up the mess when she dumped it out, because she likes water so much, but in just two weeks she is completely drinking from a cup on her own, because her teacher's let her. That’s just one example of many things.
OK, so I think I covered most of what you asked, and addressed most of the various interventions we have tried with Holly so far. The thing is though, Fragile X, Especially in girls is such a spectrum, you really don't know which if any or all of these things might work.
Holly currently sees a PT, OT, ST, and has Small Voices. We are beginning the transition to the school system and her IEP Process, and so I am afraid she will lose these services, she is fairly high functioning, but because she has such good therapists. She is a good learner, when she has someone to teach her, so my greatest fear is that without her therapists she will start to fall behind, so I hope she continues to qualify for services, at least for the time being.
Here are a few pictures from our last visit to the Mind Institute. We actually went up twice on a Wednesday and a Thursday. The first day we did several assessments related to a new study using computer software to improve working memory. Holly had such bad attention skills she barely got through all the assessments, and although it would be totally awesome for her to participate in the program, with the theory that an increase in working memory will improve attention and impulsively we have thus far not been very successful. She has to play the game for 15 minutes every day. Mommy is having trouble working it into our daily routine, especially since most days we aren't home until 7:00 PM and she is really tired by then, and on the days we did try and play Holly has a really hard time playing for the full 15ish minutes. She has to complete three of the "games" each time.
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