Genetics

Since Tessa was first identified as “developmentally delayed” when she was 12 months old, she has been tested for all sorts of things in search of a diagnosis that would explain her difficulties. They often tell us that she has “some features consistent with X”, but not enough for a diagnosis. There were several times over the years that we were sure it was this or that, and then it wasn’t (hearing loss, apraxia, dyspraxia, autism, etc).

Well, it seems that now we actually have an answer.

We did a genetic test called whole exome sequencing back in December, and the results are in. Tessa has a mutation in a gene called SCN8A, which makes a voltage gated sodium ion channel. My understanding is that this particular sodium channel is mostly located on neurons in the cerebellum, and defects in the channel affect the ability of the neurons to effectively pass signals to each other. I am not a neurobiologist, but I am learning all I can about sodium channels now!

It is considered ultra rare to have a mutation in this gene, and there are only about 100-150 people with this diagnosis worldwide so far. Most of them have epilepsy, which Tessa does not, so we will have to take her to neurology to see if she might have seizures that we are unaware of. Tessa’s mutation was de novo, which means that it was not inherited from Jeff or me, but arose spontaneously. Tessa is the only one with this particular mutation so far, so the geneticist said that they are >95% sure that her mutation created her phenotype (based on the type and location of the mutation), but they can't be 100% sure. Because this type of genetic testing is new, they expect that more people will be found to have these mutations as the testing becomes more common, and we will learn more with time.

SCN8A mutation

Our genetics appointment has been moved up to April 19. I asked if there would be anything to actually report to us, since we don’t really need to go in just to hear “this test didn’t come up with anything new”.  She sent me the cover sheet of the test report, which is a little hard for me to interpret (thus I need to go to the appointment!) but it looks like Tessa has a mutation in a gene called SCN8A.

The report says “causative variant in disease gene associated with reported phenotype”. It is autosomal dominant, and she is heterozygous, which means one copy shows the phenotype. The mutation she has is de novo, meaning it happened spontaneously and was not inherited from me or Jeff.  The particular mutation she has (c.2890 G>C) is classified “likely pathogenic variant”, as opposed to “pathogenic” or “variant of unknown significance”. That is how much is on the report. The rest is courtesy of Doctor Google!

This gene makes a sodium channel that is mostly present on neurons in the cerebellum. From what I can tell, if you have a mutation that makes it more active, then you end up with a condition called EIEE13, which is a type of epilepsy, and if you have a mutation that makes it less active, then you end up with a condition called CIAT, which stands for Cognitive Impairment with or without cerebellar ATaxia.  CIAT symptoms include delayed cognitive, delayed motor, ADHD, uncoordinated gait, uncoordinated hands/arms, speech problems. The only symptom she doesn't have for this is crossed eyes.

Most of the stuff I have found online regarding SCN8A mutation relates to the epilepsy type, but even for that it seems pretty rare. Severity of symptoms seems to depend on how each mutation affects the protein function and there is a wide variety of the severity and type of symptoms. I do not see her particular mutation documented previously.  By my research, this mutation is in the middle of the helix of domain 2, subunit 6 of this protein which has 4 repeated domains of 6 subunits each, but I don’t know the significance of that yet.

Since most of this is what I have found on my own with google, this may not be what the doctor actually wants to tell me at all. I will have to find out when we go see her. But this is the latest on what is going on here!

Whole Exome Sequencing Results

My 7 year old daughter was first identified as developmentally delayed when she was 12 months old. Over the years, she has had a lot of testing for various diagnoses, but the tests always come back negative. So we know lots of things that she doesn't have, but have no explanation for her delay. There have been several times that we were just *sure* it was this or that, and then it wasn't. A lot of the tests are sort of subjective, like for apraxia or autism. But some are more conclusive. She's had genetic testing in the past too, but all came back negative.

In December, we went back to genetics for a 3 year follow-up, and they offered us Whole Exome Sequencing, which was not available last time we were there. They did tell us that in our case, with autism-like symptoms, the chances were quite low (about 5%) that they would find anything of interest. And that the test is super expensive if your insurance doesn't pay for it (and a lot don't because they still consider it "experimental"). It turned out that in our case, it would be completely covered (not even a copay!), so we went ahead.

The results just came back (it takes several months), and they do show that my daughter has a mutation in a specific gene which codes for a sodium ion channel which is active on nerves in the cerebellum. My daughter's mutation was not inherited from myself or my husband, but was de novo. Apparently, if a mutation in this gene makes the channel turn on too much, then it causes seizures/epilepsy, and if it makes the channel turn off too much, then it impedes the interaction of the nerves, causing difficulties with motor, speech, attention, and cognitive skills.

After all this time, it is kind of shocking to actually have an explanation and a mechanism for her difficulties. But it is definitely comforting to have a real diagnosis. I have already found a Facebook group for families with mutations in this gene (though most of them seem to have the epilepsy symptoms, which we do not). I also think that when you know a mechanism, there is a possibility of a treatment down the road that might help.

I just wanted to share this experience, in case anyone else is considering Whole Exome Sequencing.

Transition to Kindergarten

We had our IEP meeting for the transition to kindergarten yesterday. I have to say that I think it went very well! I hear so many people complaining about their IEP teams and having a hard time with their meetings, but I feel like things generally go very smoothly for us.

The new team at the elementary school seems very on-the-ball. We don't know her teacher assignment yet, but a representative kindergarten teacher came to the meeting, as well as a representative from the EC classroom (EC= Exceptional Children = what we call special ed here). The speech therapist and OT were there as well. The PT couldn't come, but was available by phone when we had a question for her. All of the players seemed to work well together, and even chimed in on things that weren't necessarily in their own domains. I feel really good about the team.

We were able to get pretty much everything that we wanted from the meeting. We had been asking for them to give her OT for a while, and now they have agreed to that. They added a PT goal that I asked for after calling the PT by phone to ask her about it. They added academic goals that I tried to get at our last meeting 3 months ago, but couldn't get until now. They also approved of our idea to have her go to all 3 days of staggered entry instead of just the typical 1 day, which would basically give her the first day of school 3 times in a row for reinforcement.

They want to start her off with a lot of pull-out time to the EC room, which was not what I expected. I thought they would push someone in instead, but they explained that at least for now they want to see how she will do in a smaller group for that work. So she is going to have 30 minutes each for reading, writing, and math in the EC room 4 days per week. And on top of that she has 1 PT, 1 OT, and 2 speech per week. So while that does seem like a lot of time out of her classroom, I do agree that it is a good plan for now and we can re-assess later.

Kindergarten starts in just 6 weeks for us (year-round school) and we are excited! Not that I think our developmental day preschool experience has been bad, but I think that the level of service she will get in elementary school will be even better, based on this meeting.

Wechsler Results

We got the results back from our Wechsler test:

Verbal Comprehension Composite: 73
Subtest: Information - 6
Subtest: Similarities - 3

Visual Spatial Composite: 58
Subtest: Block Design - 1
Subtest: Object Assembly - 4

Fluid Reasoning Composite: 85
Subtest: Matrix Reasoning - 9
Subtest: Picture Concepts - 6

Working Memory Composite: 67
Subtest: Picture Memory - 1
Subtest: Zoo Locations - 7

Processing Speed Composite: 75
Subtest: Bug Search - 6
Subtest: Cancellation - 5

Full Scale IQ: 69

Two years ago, she had a Stanford-Binet test and scored 73. This time she took a Wechsler test and scored 69, which they say is in the margin of error of the last test, but puts her in a different category (70 cutoff). They are not going to give her a diagnosis of mild intellectual disability, or of borderline intellectual functioning, yet though. They say that we should test her again at age 7 and that by that age IQ should be more stable.

What I find frustrating are two things.

1) That we still have no diagnosis. I feel like they just keep kicking the can down the road, and it just feels so open-ended to me. I want to just *know* what is going on, and it would be nice to have something to call it.

2) Everyone's reactions. Everyone says "I know her and I don't believe that result". I think that they mean well, like they are trying to say that they are sure everything will be fine. But to me it just comes off as dismissive.

Wechsler IV

Yesterday I took Sweets for her Wechsler IQ test (WPPSI-IV). This is in preparation for her upcoming IEP meeting, which will be setting up her fast-approaching kindergarten year.

The first module was Block Design. In this game, the doctor set up 3 blocks side-by-side in a pattern of white, white, red, and asked Sweets to copy the design. Sweets did not accurately copy the design (she did white, red, white). They moved on to other patterns using 3 blocks, and then 2 blocks. Sweets was able to stack the 2 blocks on top of each other just fine.

The next module was Information. Sweets had to chose the correct picture as the response to a question - "These 3 items are things you eat. Which of those items is also something you eat?". Sweets seemed to do fine at this. This was followed by open-ended verbal questions. Some of these she gave amusing answers. Who wears a crown? "People" Who else? "Prince Wednesday." What color is most dirt? "Mulch" What color is it? "Black" Who lays an egg? "Baby Beep Beep" (????)

The next module was Matrix Reasoning. There was a set of 4 pictures, missing one, and she had to select which one was missing from a choice of four responses. She did not do very well on this.

The following module was Picture Concepts, which had two rows of pictures, and she had to choose one picture from each row that go together. She really did not do well on this. I don't think she really understood what she was supposed to be doing for this. She often even picked both pictures from the same row.

The next module was Bug Search. There was a target bug symbol next to a search group, and he had to use a stamper tool to mark the correct match to the target. I think she did okay at this.

Then there was a Picture Memory module. In this, she was shown a picture for a few seconds, and then asked to pick out that picture from a group. She did okay with just one stimulus picture, but had a very hard time when there were two stimulus pictures to remember.

The next module was Similarities. The first one was "Yellow and Red are both ____ ", but Sweets would not even answer. I know that she knows that, but she wouldn't participate in that module at all, so we skipped it.

The next module was Object Assembly - or puzzles. She did okay with the 2 piece puzzles, but was not able to do the 3 piece puzzles. One of the puzzles made a circle (a clock), and she worked really hard on it, but could not figure it out. She ended up making a ~ type shape instead and then gave up. The other puzzle was a car, and she got the first two pieces together, but could not figure out where the 3rd piece went.

There was a Cancellation module, in which there were many pictures on a large paper. Some pictures were of things you wear (shirt, pants, hat, etc) and others were of other kinds of things. She had to use the stamper to mark only the things you wear. I think she did pretty well on this. She may not have marked a lot of things in the time allotted, but I think she was pretty accurate in the things she did mark.

There was also a module that we called the Zoo Locations, where she had a base with two compartments at first, and the examiner would tell her which animals lived in which compartment. Then she was given a card with the animals and asked to put them where they belong. She did pretty well with this, even given 2 animals at a time with up to 4 compartments to choose from. Pictures of some of these subtests (the newest ones that are in the WPPSI-IV but not the WPPSI-III) are in this blog post.

Now we have to wait 2 weeks to get the results back, and then the IEP meeting is a week after that.

The difficulty with having no diagnosis

I've found that I have become friends with a bunch of other families who also have kids with special needs. Some of these, as you would expect, are other families at the developmental day preschool that Sweets attends. Others are people that we've met in other contexts, but maybe we just felt drawn to them due to similar experiences with special needs issues.

In this crowd, there is a lot of talk about doctors and evaluations and IEP's and services. My family has had a pretty positive experience with the IEP team, and we feel like they have given us all of the services that they can for Sweets - even more than we expected. Other families do not necessarily feel the same though, even if they have the exact same IEP team as we do. They are fighting hard for services that are handed to us but denied to them, which I'm sure is frustrating. They want to know what did we do in the meeting that they didn't do - why are we getting the services but not them?

When we first got all of these services from the IEP, we thought there are a few ways we could view this. 1) They think she is a lot worse off than we anticipated and really needs way more services, 2) She is a "good investment" for early intervention, and if they throw a bunch of services at her now then maybe she will get to a point where she doesn't need them anymore soon, or 3) I came in with my big binder and my evals and ready to argue, and they decided it wasn't worth messing with me. Option two feels nicest for Sweets, so we like to think it's that (and maybe a bit of number three as well). Honestly though, I have no idea why it has been so easy for us to get services and it's not that way for others.

Sweets' difficulties are not necessarily as obvious to others as some kids'. Sweets isn't really severely affected in any one area, but is somewhat affected globally. She has gross motor issues, and wears bilateral orthotics, but she can walk and run and her new orthotics are now completely hidden inside her shoes. She can now say all age-appropriate sounds in single word utterances, though she still has trouble when stringing multiple words together. Her language is delayed, but she is now able to carry on a conversation, especially with adult prompting. Her social play has improved a lot, and she does engage in play with other kids now. She is behind on academic skills, but it isn't apparent to others who are watching her in a play situation. We still don't even have a diagnosis other than "developmental delay", though we've been tested and screened for all sorts of things through the years.

So to our friends who are "in the system" with us, Sweets appears pretty "typical" compared to their kids who have "real" diagnoses like cerebral palsy, autism, apraxia, hemiplegia, brain lesions, etc. When we share test scores (in the context of eligibility for services), they even question the validity of her scores because they feel like she should test higher compared with their kids. The fact that she is getting certain services that they aren't feels unfair to them. I know that they really just want more for their own kids, but when they express this to us it feels like they think Sweets doesn't "deserve" all of her services.

In a way it is nice that they think Sweets just seems "typical", because it shows that she is really doing well, though it is also frustrating to have her struggle minimized. I know she isn't profoundly affected like some kids we know, and it's not like I wish for her to be more severely affected, but sometimes I wish we at least had a diagnosis just to be legitimized in the special needs community.

Every time Sweets improves, some people seem to take it as proof that there was never any problem in the first place - that she's "just a late bloomer". I think that they are just trying to be positive, but to me it feels like they are saying that we are over-reacting or something, and she doesn't need the therapies and IEPs and whatnot, only a bit of time. When your kid isn't talking yet, everyone likes to tell you "well, you know Einstein didn't talk 'til he was 6 so I'm sure it will be fine". And maybe it will be fine, and maybe it will always be a struggle, but without a diagnosis, we don't have a prognosis, so there's no way to know, and that is frustrating.

It reminds me of when I was about 5 months pregnant, and people couldn't quite tell if I was pregnant, or just getting fat. People look at the lady who is 9 months pregnant, and they know what the deal is, but they look at you at 5 months and you want to wear your maternity clothes just to be like - hey, I really am pregnant here, there is a reason I look like this!

A Subtype of Apraxia?

We first heard of apraxia as a possible diagnosis when Sweets was less than 2 years old, but they wouldn't test for it until she was at least 2. When reading about it though, we felt like this was probably the answer to what she had. Her first evaluation said she had some characteristics that were consistent with the diagnosis, and other characteristics that were not, so they would rather hold off and re-evaluate her when she's older. We had a second opinion that just said no, they don't think it's apraxia at all. So, we thought apraxia's out, it's something else. Nine months later, we had another evaluation with a new SLP just to measure progress. This one brought up apraxia and said that's what she has, which surprised me since I thought it had been ruled out! We went for a second opinion again, and the second opinion said no it's not apraxia, but it might be phonological processes, but she can't be tested for that until she's 4. We looked up phonological processes and thought that yes, this seems to describe her better than apraxia did. Now, she's 3.5 and we went in for another eval just to measure progress. Again, this clinician says she would diagnose with apraxia. I asked what about the phonological processes possibility, and she said that she agrees with that possibility, but that she considers that to be like a sub-type of apraxia, but other clinicians might consider it a separate diagnosis. So that might explain why some of them want to say it's apraxia and others want to say it's not. Maybe it's more of a categorization issue than a diagnostic issue. However, in my google-searching on the topic, I am not finding others who classify phonological processes as a type of apraxia. Rather, they compare and contrast the two. So that part still feels questionable to me.

Our first IEP

We had our first IEP meeting on Friday, which was to determine eligibility and then develop the plan that the school will provide for Sweets once she turns 3 years old this month. I have to say, it went as well as I could have hoped for!

I was concerned that the school decided not to do their own speech eval on Sweets as they had planned to do. They ended up taking our two recent speech evals instead and determined they didn't need to do their own. However, she scored a 79 on our eval, and the cutoff for services is 78, so she would not qualify just based on that.

They did note in their cognitive and OT reports that she had significant speech delays that were evident for those tests. In the end, all parties agreed that she did require speech services, even though her speech score didn't qualify her.

Her adaptive score was below 70, so she qualified under that measure, as well as for PT (score 74). Her OT score was in the average range, but one of the subtests showed deficits in planning and ideas, which is more of an adaptive skill.

They were able to qualify her based on her adaptive scores, and then give her speech services too anyway!

The team will give her speech 3 times per week - 2 of which will be pull-outs.

But that's not all - they will also give her PT once per week. And special education for one hour per day.

And they are giving her a developmental day placement, which is at the same school she already attends, meaning that the county will pay for her preschool. We still have to pay for after-school hours and summer.

But speaking of summer, they are also giving her extended school year for speech, though it will only be once per week. But still, I hear they hardly ever give that out.

For goals, we got a speech articulation goal, a speech communication goal, a social play goal, an early literacy goal, a basic concepts goal, and a PT goal.

Overall, I was very satisfied with the goals and services we are going to get!

She Said It Was "Vital"

Welcome to the March 2012 Carnival of Natural Parenting: Parenting With Special Needs

This post was written for inclusion in the monthly Carnival of Natural Parenting hosted by Hobo Mama and Code Name: Mama. This month our participants have shared how we parent despite and because of challenges thrown our way. Please read to the end to find a list of links to the other carnival participants.

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Sweets is almost 3 years old now. She has been enrolled in state early intervention since just after she turned 1, and now she is aging out of that program. The next step is an IEP (individualized education program) with the school system.

In preparation for our first IEP meeting, Sweets has been tested for pretty much everything, even though our main concern with her has been her speech and language delay. She has been getting speech therapy twice per week since 18 months, but she used to also get physical therapy (for gross motor delay) and developmental therapy (for cognitive delay). We dropped the other therapies last year, mostly for financial reasons, but also because it seemed like she had improved so much in the other areas that she probably didn’t really need much more therapy there anyway. We felt like speech was her obvious issue, and we should focus on that. If therapy had continued to be free (DT) or cheap (PT), we probably would have just continued, but when the state completely changed the financial structure so that we would have to 100% self-pay for all therapies, we decided she probably didn’t really need all those therapies anymore anyway and we could just focus on speech.

The current round of evaluations has shown that not to be the case after all.

I was surprised that her scores in PT were at the 4th percentile – the same as they were at 13 months when we started early intervention. Once your kid can walk and get around pretty well, I guess you forget that there is more to gross motor than just walking. I was more surprised that her cognitive scores were also at the 4th percentile. But she can do puzzles now! And find hidden objects! Ironically, she scored higher in language ability, at 8th percentile, than she did in PT or cognitive, and that is the area we had been most concerned about!

It is obvious that she is gaining skills, not losing them, but it is harder to see whether she is actually “catching up” or not. To me, it feels like she is doing so many new things, and she is! But that’s not the same thing as catching up. It doesn’t mean that she no longer needs therapy. It took me by surprise to see that she is still at the same percentile as she was two years ago.

So many people have told me that “she’s probably just a ‘late bloomer’” and not to worry, which may have led to some additional complacency. People love to tell you about someone they know who didn’t say a word until they were X age and then suddenly started talking in complete sentences. I’m sure they are just trying to give comfort and reassurance that everything is okay, that your child is “normal”. But that can make you feel like it’s not that important to get therapy, at least not yet. Or that you are overreacting if you do get therapy so soon. Maybe you should just wait and see.

Others seemed to blame her delays on me:
“She doesn’t walk because you wear her too much.”
“You are too easy on her – if you just made her work harder she would do it.”
“She doesn’t talk because you taught her to sign.”
Basically, she doesn’t need therapy, she just needs me to parent differently. Gee, thanks.

It is an odd contrast to the “early intervention is so important” proclamation that you often hear in the disability community. But when your child doesn’t have any diagnosis, just an undiagnosed developmental delay, it is hard to know if that still applies to you. Doctors have tested Sweets for all sorts of diagnoses, but all of the tests have all come back negative, leaving me to perpetually wonder if she really IS “just a late bloomer” and would catch up in her own time. Or, if I have somehow contributed to her delays.

Sweets’ cognitive evaluation report says “it is important to consider that intellectual abilities are less stable and predictive at this young age.” Which means that just because her IQ is 73 now, doesn’t mean that is necessarily predictive for what it will be in the future. She could still “catch up”. The report goes on to say that “it is vital that [she] receive appropriate intervention to address her language and cognitive delays so that she can improve her skills and intellectual disability can be prevented.” Basically, if she gets therapy now, then it is possible that she will improve her cognitive abilities with respect to her age as she gets older. And if she doesn’t, it is possible that in the future she could be classified with “intellectual disability”, previously known as mental retardation. The psychologist is not equivocal in her recommendation – early intervention at this time is vital.

I feel guilty that I voluntarily stopped her other therapies, because it looks like she probably still needed them. We lost about 9 months of therapy there. We will find out this month whether the school system is going to provide these therapies to Sweets through her IEP or not. But even if the school does not provide them, we will be sure to get private therapy for her anyway. At this point, I want to give her all the early intervention that I can get her.

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Visit Hobo Mama and Code Name: Mama to find out how you can participate in the next Carnival of Natural Parenting!

Please take time to read the submissions by the other carnival participants:

(This list will be live and updated by afternoon March 13 with all the carnival links.)

• Parenting A Child With Neutropenia — Jennifer at Hybrid Rasta Mama discusses the challenge of parenting a young child who cannot produce enough neutrophils to fight off bacterial infections.


• How I Love My High Need Baby — Shannon at GrowingSlower was shocked to find she is parenting a high-needs baby, but she's surviving thanks to attachment parenting.


• We're a Lot Like You — kaidera at Our Little Acorn talks about how her family is similar to others, even with all their special needs


• The Emotional Components of Bonding with Preemies — Having a premature baby can bring on many unexpected emotions for parents, but working through those emotions can bring about a wonderful bonding experience. Adrienne at Natural Parents Network shares.


• Raising a babe with IUGR: from birth through the toddler years — Rachel at Lautaret Bohemiet shares the story of how her son’s post-birth IUGR diagnosis affected his first days of life and gave her an unexpected tutorial in advocating for their rights as a family.


• When a grandparent has a disability — Shannon at Pineapples & Artichokes shares how she has approached explaining her mother's disability to her young child.


• Taking The Time To Really See Our Children — Sam at Love Parenting writes about her experiences working with children with various disabilities and how it has affected her parenting style.


• Natural Parenting In An Unnatural Environment — Julie at What I Would Tell You gives us a glimpse into how she improvised to be a natural parent against all odds.


• Getting Through the NICU — Laura at Authentic Parenting gives a few pointers on how to deal with your newborn's stay in the NICU.


• Living With Sensory Processing Disorder — Christy at Adventures in Mommyhood talks about the challenges that can come from living with a child who has SPD.


• Our rules for NICU - March Carnival — Hannabert's Mom shares her family's rules for family and friends of a NICU baby.


• Letter from Mineral's Service Dog — Erika at Cinco de Mommy imagines the letter that accompanies her special needs son's Service Dog.


• Blessings in Unexpected Places — That Mama Gretchen welcomes an inspiring guest post from a dear friend who shares about the blessings that come from a child with Down syndrome.


• Tube Feeding with a Blenderized Diet of Whole Foods — Erica at ChildOrganics shares her experiences with using real food when feeding her daughter who was unable to feed herself and needed a feeding tube.


• Abbey and Evan — Amyables at Toddler In Tow writes about watching her preschooler play with her friend who is autistic and deaf, and wonders how she can explain his special needs better.


• How to Minimise the Chance of a {Genetically Prone} Child Being Diagnosed with ADHD — Christine at African Babies Don’t Cry shares her tips on keeping a child who is genetically prone to ADHD from suffering the effects.


• Tough Decisions: Parenting With Special Needs — Brenna at Almost All The Truth shares what has been keeping her up at night worrying, while spending her days discovering just what her options are for her precocious child.


• Life with my son — For Dr. Sarah at Good Enough Mum, life with an autistic child is just another variation on the parenting experience.


• Dear Special Needs Mama — Sylvia at MaMammalia writes a letter of encouragement to herself and other mamas of special needs children.


• His Voice — Laura at WaldenMommy relives the day her son said his first sentence.


• What is 'wrong' with you' The challenge of raising a spirited child — Tara at MUMmedia discusses the challenges of raising a child who is 'more' intense, stubborn, and strong willed than your average child.


• Tips for Parenting a Child With Special Medical Needs — Jorje of Momma Jorje shares her shortlist of tips she's learned in parenting a newborn with special medical needs in a guest post at Becoming Crunchy.


• Parenting the Perfectionist Child — Mandy at Living Peacefully with Children discusses that as parents of gifted children, we are in the unique position to help them develop the positive aspects of their perfectionism.


• Montessori-Inspired Special Needs Support — Deb Chitwood at Living Montessori Now gives a list of websites and blogs with Montessori-inspired special-needs information and activities.


• Accommodating Others' Food Allergies — Ever wonder how to handle another family's food allergies or whether you should just skip the play date altogether? At Code Name: Mama, Dionna's friend Kellie (whose family has a host of allergies) shares how grateful she is when friends welcome them, as well as a list of easy snacks you can consider.


• Only make promises you can keep — Growing up the child of a parent with a chronic illness left a lasting impact on Laura of A Pug in the Kitchen and what she is willing to promise for the future.


• A Mom and Her Son — Jen at Our Muddy Boots was fortunate to work with a wonderful family for several summers, seeing the mother of this autistic son be his advocate, but not in the ways she thought.


• Guest Post from Maya at Musings of A Marfan Mom — Zoie at TouchstoneZ is honored to share a guest post from Maya, who writes about effective tools she has found as a parent of two very special boys.


• You Don't Have to Be a Rock — Rachael at The Variegated Life finds steadiness in allowing herself to cry.


• When Special Needs Looks "Normal" — Amy at Anktangle writes about her experience with mothering a son who has Sensory Processing Disorder. She offers some tips (for strangers, friends, and loved ones) on how to best support a family dealing with this particular neurological challenge.


• Special Needs: Limitation or Liberation? — Melissa of White Noise describes the beauty in children with special needs.


• How I Learned It'll Be Okay — Ashley at Domestic Chaos reflects on what she learned while nannying for a boy with verbal delays.


• Attachment Parenting and Depression — Shannon at The Artful Mama discusses how attachment parenting has helped her get a clearer image of herself as a parent and of her depression.


• On invisible special needs & compassion — Lauren at Hobo Mama points out that even if we can't see a special need, it doesn't mean it's not there.


• Thoughts on Parenting Twins — Kristin at Intrepid Murmurings shares her approach to parenting twins.


• ABCs of Breastfeeding in the NICU — Jona at Breastfeeding Twins offers tips for establishing breastfeeding in the alphabet soup of the NICU.


• Life With Michael - A Mother's Experience of Life With Aspergers Disorder — At Diary of a First Child, Luschka's sister-in-law Nicky shares her experience as mother to a child on the Autism Spectrum. It is filled with a mother's love and devotion to her child as an individual, not a label.


• Raised by a Special Needs Mom — Momma Jorje shares what it was like growing up as the daughter of a mother with a handicap.


• Becoming a Special Needs Mom — Ellen at These Broken Vases shares about becoming the mother of a child with Down syndrome


• She Said It Was "Vital" — Alicia of Lactation Narration (and My Baby Sweets) discusses the conflict she felt when trying to decide whether therapy was necessary for her daughter.

Stanford Binet

Sweets had her cognitive eval today. An IQ test. In the past, she's had IQ type testing done as subtests for other tests, but they were just quick tests.

Her first testing at 13 months was the Bayley Scales of Infant Development. She scored an 80 for cognitive at that time, though there was a lot of question as to how much of that was due to her communication difficulties as opposed to true cognitive. When she was retested at 24 months with this same test, she scored a 90, which is within the normal range.

More recently, she was tested at 33 months with the DAYC - Developmental Assessment of Young Children. Sweets scored an 84 on the cognitive subtest of this assessment.

Today, Sweets had an in-depth cognitive assessment done, the Stanford Binet Intelligence Scales. Based on her scores in the past, I expected her to score in the 80's on this test. Her actual IQ on this test was 73, which was 4th percentile, so quite a bit lower.

The subtests on this assessment each have a verbal and a nonverbal component. The subtest scores are on a scale where 10 is average and the standard deviation is 3. The composite scores are on a scale where 100 is average and the standard deviation is 15.

Subtest	Nonverbal	Verbal	Composite
FR (Fluid Reasoning)	10	6	88 (21%)
KN (Knowledge)	7	6	80 (9%)
QR (Quantitative Reasoning)	6	4	72 (3%)
VS (Visual Spatial Processing)	7	6	79 (8%)
WM (Working Memory)	9	9	94 (34%)
IQ	73 (4%)	76 (5%)	73 (4%)

Certain subtests were really good, like working memory. The examiner said that this subtest would score low in children with ADHD, and for Sweets it scored in the normal range. Sweets also scored well in reasoning, which measures problem solving, so that's great! She scored most poorly on math skills. She was not able to count to 3, and she did not demonstrate knowledge of the concepts of bigger/smaller, more/fewer.

Overall, she doesn't seem to be held down by her communication skills in this test, because her verbal scores were not significantly lower than her nonverbal skills. If they were, then this might indicate that she should take a test specifically for nonverbal assessment. The examiner considered giving her one anyway, but didn't think Sweets would be engaged with that test.

So, where do we go from here? I don't really know what this means. I think that it makes it more likely that she will qualify for services with an IEP though. I still don't have a great understanding of what the criteria are for qualification, but from what I've read it is something like 2 standard deviations below in one area or 1.5 standard deviations below in two or more areas. One standard deviation is 15, making 1.5 standard deviations below a score of 77.5 and 2 standard deviations below a score of 70.

Sweets now has 73 for cognitive, 74 for PT, and 79 for speech. I find it very odd that she scored the highest from speech out of these, considering I feel like speech is her biggest issue. But she does have two scores below 77.5 now, so at least that means I think she will qualify for services. I really hope that is going to include speech services, since that's what I think she needs most. I wonder if this will qualify her for developmental day as well now, which would mean mostly free daycare. There's got to be a silver lining, right?

Apraxia: Yes, No, Maybe So...

Last month Sweets had a speech eval at NCEENT which diagnosed her with apraxia. Today we had our second opinion on the apraxia diagnosis at Duke.

The Duke examiner said she does NOT think that Sweets has apraxia. She said maybe phonological disorder instead. But she is reluctant to make any call before 4 years old. Of note, this was (by chance) the same examiner we saw last year, who said she didn't think Sweets had apraxia then either. She said she still stands by that opinion today.

She said that Sweets is able to mimic well enough, and she doesn't hear a lot of variability in her mimicked words, specifically in the vowels. She had her say "Bye bye bubbles" as she blew and popped bubbles, which Sweets said. The examiner said that a kid with apraxia would have a really hard time saying that.

The examiner at NCEENT had told me that just because Sweets can mimic, it doesn't mean it's not apraxia. She said that while adults with apraxia can't mimic, kids often can. One reason she thinks it is apraxia is because of the difference between her spontaneous pronunciation and her mimicked pronunciation.

The Duke examiner still thinks that tactile cuing therapy would be useful though, which is the same thing that the NCEENT examiner said. She said she isn't that familiar with PROMPT (which the NCEENT examiner had recommended), but that she knows it is a type of tactile cuing therapy, and would support that on top of play-based therapy. So the general recommendations are the same at least.

She thinks that we should go back to using ASL signs with Sweets again. We had been using them successfully for about a year, but when she started the new daycare in August it dropped off a lot because they don't know the signs and it wasn't reinforced. She also recommended communication/picture boards, which we have had in the past but we didn't get much use out of them because Sweets was signing a lot at the time. She gave me a simple one with "I Want" on it, that you can velcro different things that you want on the board.

This afternoon, the NCEENT examiner just happened to call me to see if I wanted to start Sweets in PROMPT therapy there. I did book a PROMPT session for Monday. I also told her about what the Duke examiner said. She said she wasn't surprised at all that the Duke therapist does not think Sweets has apraxia. But she really thinks it is apraxia.

How confusing.

PT Eval - 33 months

Sweets had a PT eval yesterday. It had been almost a year since the last one, and about 8 months since we quit PT. My main questions were where her current ability levels are and whether she still needs to wear the orthotics.

The outcome is that she will continue with the orthotics, and she scored lower than I expected for her current ability levels.

Stationary skills: standard score of 7, age equivalent 18 months, 16%
Locomotion skills: standard score of 6, age equivalent 23 months, 9%
Object manipulation skills: standard score of 5, age equivalent 20 months, 5%
Overall: gross motor quotient of 74, 4%

Surprisingly, this is about the same percentile that she scored for PT when she was about 13 months old, when she couldn't walk, cruise, or crawl.

At 13 months, she scored age equivalent to 9 months, which was <5th percentile. Now at 33 months, she is scoring 18-23 months age equivalent, which is actually a higher percentage of delay by age.

The main impediments that were noted were that Sweets could not jump up off the floor or the trampoline (she tries, but only her heels get off the ground), and she could not stand on one leg for 3 seconds. She also may have scored lower on ball activities because she isn't really that interested in balls. Though by my observation I felt like she did just fine with all the ball activities they asked her to do (pick it up, throw it, kick it, etc). I guess that's why I'm not a PT though, since she seems fine to me.

Overall, I had felt like Sweets was doing fine with PT and would not qualify for anything, but it turns out she is still pretty delayed. I guess once a kid knows how to walk, we stop worrying about PT. I feel very surprised that she actually scored worse on her PT than she did on speech. I feel like her speech delay is much more obvious and much more of a problem.

The PT eval discussed options for therapy with me. We won't be taking her to the clinic because it is very expensive to go there. We went there 4 times when Sweets was 13 months old, until early intervention kicked in, and it cost us $75 per session, which is ridiculous.

I mentioned that if she qualifies for IEP, that hopefully she could get PT through the school. The evaluator said that even with delay, the school often won't provide PT unless the child can't access all areas of the school and playground. As far as I know though, Sweets can access her school and playground just fine, so she still may not qualify for services.

The other option is for us to find a PT who will see her at school the way her early intervention PT did, and we will just pay it through insurance. The issue here is that we want to make sure we have enough insurance visits for the speech therapy, so that will depend on what the school provides for speech. Even if the school provides speech therapy, our docs are recommending PROMPT therapy once per week, which we would have to provide separately somehow because I don't think the school has access to this kind of therapy. We only have 75 combined therapy visits per year, and we would rather use them for speech than PT if we have to choose.

So I'm still not even sure if we are going to do PT for her at all at this point. Though I feel like we should now that I've seen her low scores.

Grumpy Morning, Happy Morning

I don't know how she does it, but on weekends Sweets is like an alarm clock. She wakes up right at 7am, no matter when she went to bed.

But on weekdays, I often have to wake her up to get her ready for daycare.

This morning, I went to wake her up at 7:15, and she was grumpy!

She didn't want to get dressed, she didn't want to eat breakfast. But she did ask to nurse.

Sweets hasn't been nursing in the morning every day lately. She used to always nurse twice per day: in the morning when we get up and when we got home from work. But lately, she skips one or even both of these some days. She skips the morning nursing more often, and I'd say she only nurses in the morning about 60% of the time lately.

But this morning, she wanted to nurse. And she didn't want to nurse in this seat, it had to be in that seat.

THAT ONE!

I'm telling you, grumpy.

She nursed for maybe 20 minutes and got progressively happier and happier and more giggly and playful as she switched back and forth a few times between sides.

When she was done, she started just looking up at me with the most smiley, happy face! She was just so adorable!

I looked down at her and I said "Oh, I just love you!"

And she looked back at me and said "Yah Yoo Doo."

Love You Too.

And my heart melted.

And then she happily got down and went to the kitchen to eat the waffle that was waiting for her. Then she trotted over to the door, ready to go, and said happily "Ass Doh!" (Let's Go!)

I'm so glad we are still nursing. We can still turn a grumpy morning into a happy morning, just like that!

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This post is cross-posted from my breastfeeding blog, Lactation Narration.

Potty, Day 8

It has now been a week since Sweets just up and decided to start using the potty. She has been almost 100% at home since then (was 0% previously!).

Daycare was another story. She wasn't going at daycare at all all week. I think that she didn't like their potty - they can't use the little plastic potty like we have at home, and they don't even have a seat reducer. It is a child-size potty, but I guess she just didn't like it. I think it was also a problem because at home, when she has to go she just runs over to the potty and does it - she has free access at all times. At daycare, she has to tell the teacher, then they have to take her to the bathroom, then sit her on the potty. It just takes a lot longer, and she has to communicate it to them first.

But on Friday, they reported that she did actually use the potty at daycare, twice! Yay!

Then, this weekend, we took her out and about all sorts of places, and we brought her in unders. She now actively does NOT want to wear a diaper, ever. It was risky, but we packed a few changes of clothes, put a pee pee pad in the carseat, and off we went. And she did great! She told me she had to go several times, and successfully used the toilets in public restrooms and other people's houses all weekend! I did not even need to change her clothes at all!

She was also able to go when I put her on the potty pre-emptively before we left, so she has really mastered some control now! It is amazing how much progress she has made in the past week!

I washed diapers last night for the whole week and only had 7! (We still need them for sleep)

I feel pretty confident that she is going to use the potty all day at daycare now. I guess we'll find out when I pick her up today!

Developmental Ped

We had our first appointment with the developmental ped today. She was very nice, and was assisted by a medical resident.

Sweets wanted to be naked for this visit for some reason, but that didn't seem to phase anyone! I wasn't sure if I should try to make her wear her clothes, or just let her be comfortable so she could get on with the eval. I chose the latter though. It started with just her shirt coming off in the waiting room, and I did put that back on her then. I mean, at least let's get into the private room first! She stripped right down to her underwear, but did keep that on at least... for a good while anyway. At some point she did take off her unders too, and just did the rest of the eval completely naked. I dunno... I didn't fight it... I kept thinking that maybe it had something to do with using the potty (we had brought her little potty with us), but she didn't use the potty at all the entire time.

Anyway, the doc did a cognitive eval on her, which she scored 84 on. I thought that was about what she had scored in the past, but the doc pointed out that she had actually scored a 90 at 24 months. I don't know how I had forgotten that, given that a 90 puts her in "normal" range! At 84, she is just over 1 standard deviation below the mean. Which means it is significant, but not significant to qualify for services... (that requires 1.5 standard deviations). The doc said that her test was more of a "quick and dirty" eval, and that she will refer us for a full eval with a psychologist for a better eval.

The doc also did a neurological eval, which included checking her muscle tone. This was because we had mentioned that Sweets is still wearing orthotics, but we didn't know if she really needed them anymore. The doc said that she can feel that she is still hypotonic, so she thinks that yes, we should continue with the orthotics. But, again, she referred us to get a more complete PT eval as well.

So, the plan is that we will get these two evals, and all of the school evals, and then come back in April with all of the results and regroup at that time. All in all, I think it went pretty well. And maybe next time my kid can keep her clothes on!

"I want to go downstairs, Mommy"

My child said this sentence. My husband and I looked at each other, shocked, and then counted the words on our fingers. I.. want... to... go... downstairs... Mommy... 6 words! Wow! For a child who usually only uses 2 words together, but increasingly 3, six words is a lot!

I have noticed that in the past week, Sweets has been saying more things and putting more words together. The same week that she also decided she was going to use the potty. And she also became suddenly interested in the TV. She will go up and point to the TV and ask for "Raffi" or "Dora" now, where she never cared a lick about TV before.

I know that she seems to do new things in spurts. It's how she's always been. She didn't really do new things between 9 and 18 months, and then at 18 months she just started saying words, signing, and taking steps!

Then she plateaued for a few months, then had another big spurt at 26 months. In no time she went from about 10 words to about 100 words! And then she plateaued again.

Now she is 33 months, and I'm thinking we are seeing another spurt!

Potty Time!

The most amazing thing has happened this weekend! Sweets has up and decided to start using the potty!

Up until now, she has been going diaperless at home when she wants to for about a year now. And she is able to mostly stay dry when she does this. When she doesn't have her diaper on and she has to go, she will ask for a diaper. If we try to sit her on the potty instead, she just sits and won't go. If we don't give her a diaper, she'll just wet on the floor. She does sit on the potty pretty regularly, though she has never actually GONE potty, she just SITS.

Until this weekend anyway!

When I changed her diaper on Saturday evening around 5:30pm, she didn't want a new diaper on. Which is not unusual. I put unders on her. Around 8:30pm, she looked up at me and said "Pee Pee!", which I expected to mean that she had wet herself. But she was dry. So I asked her, "Do you want to pee pee on the potty?" and she said "Pee Pee on Potty". So I put her on the potty.

And... she PEED! ON the potty!!

First Time!

We were all SOOO excited!

Overnight, she woke up and wanted to sit on the potty again. She said she had to poop this time. I don't know if she actually did though, because I was half asleep and didn't turn on the light.

Then today, she has been diaperless all day except for her nap, and she has used the potty 5 times, including a poop!

It's amazing! It's like she just decided that she was going to start using the potty, so now she does it!

Now I wonder how this will work out at daycare, where she will have less immediate access to the potty. She will have to ask a teacher to take her, which may not give her enough time to make it in time. Today she has sometimes announced she had to go first, but other times she just went and sat down on the potty and went by herself.

I plan to bring many changes of clothes for her and see how it goes!

IEP referral

Today was my first IEP meeting. It was just the referral meeting, but we did more than I expected. We reviewed all of Sweets' history with early intervention, and decided which evaluations the school will do.

Besides me, the other people at the meeting were:
the daycare teacher (certified birth-kindergarden special education),
the daycare director (developmental daycare),
the early intervention service coordinator,
the local school system preschool coordinator (who also served as the school SLP),
the school psychologist, and
the school physical therapist.

We discussed strengths and concerns, including play skills, gross motor, and communication skills. We discussed her current and recent services through early intervention.

We also discussed the recent apraxia eval and the possibility of an apraxia diagnosis for Sweets, though I did not give them the report from this eval. Sweets had scored a 79 composite score on this eval (9%). I have read that the cutoff for eligibility is actually below 78, so I am afraid that this eval could actually make it harder to qualify. Someone in the meeting actually said it has to be below a 70 for a 30% delay, but I don't think that was correct. The school will do their own eval anyway. They would like to know which tests were done so that they don't repeat the same ones. They said that it is not accurate to use the same test within a year.

In the end, they decided they will basically just do a full panel of evals on Sweets, not just the communication and educational evals that I thought they were planning. Here is the list:

Physical Health (vision, hearing, etc)
Educational (academic achievement)
Psycological
Intellectual Assessment (they will do one that does not rely on as much language)
Social Appraisal
Speech/Language
Motor (fine and gross)
Adaptive Behavior (self-help)
Sensory Processing Appraisal

They will do all of these evals at the daycare, without me present. That is different for me; I have been present at all of her other evals. They usually have lots of questions for me to answer. This time they gave me a stack of paperwork to fill out instead. I requested to get the eval reports before the IEP meeting so that I have time to review them, and I provided my email address for them to send them electronically. Apparently otherwise they would just give them to me at the meeting. I can imagine I would have time to thoroughly read all those reports right there. Of course I want to get them ahead of time! This way I will get them all with at least a week's notice before the IEP meeting. At the next meeting, we will discuss the reports, decided whether she is eligible for IEP, and if so, create the plan. The meeting is scheduled for March 30, which is almost a month before her birthday, giving us plenty of time, so I am happy about that.

I am still worried that she won't even qualify for services, but the daycare director seems confident that she will. It does seem like this team will try to qualify her if they can. They do not seem resistant or uncooperative at all. I think I have just heard so many stories of struggles with IEP teams that I was prepared to have to fight them, but it doesn't look like it will be that way.

Good news on the developmental ped

Three posts in a row... when it rains it pours in blog land!

Anyway, just a short note to say that the developmental peds office called today and said they can get us in this month! Which is amazing because they told me that based on the waiting list we wouldn't get in until June. I guess they must have had a cancellation!

I'm really happy that we'll get in and have input from this doc before we have to do the IEP. I'm hoping she will do some of her own evals, and recommend which evals and services we should ask for from the school. She can also weigh in on apraxia.

The initial appointment is supposed to take 2.5-3 hours, so I think they will do a pretty comprehensive eval. She also said that if they can't get it all done in one day that they can book a return visit for the next week. I'm not sure how long Sweets will participate, so that is good.

I think I thanked the receptionist for the appointment 5 times on the phone!