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I just need to get this off my chest-special needs parenting JAWM


Desert Strawberry
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Luna failed her 1 year developmental screening. No surprise. There's always been something obviously wrong with her. I don't say that in a bad way. SHe has always, always struggled. 

She saw a bunch of specialists, went through a lot of testing, got glasses for severe far-sightedness, and started multiple therapies. She did not get a diagnosis. Or rather, she got a bunch of small diagnoses, but no overall, encompassing answer to why she has so many problems. 

Therapy has been wonderful. Amazing. She walks, she eats, she's strong, and brave. She can negotiate getting around almost anywhere, she's almost potty trained. She has grown inches and gained pounds. SHe is on the growth charts for the first time in her life. 

She just turned 2. Her home teacher did her new screening. 

She failed again. In all but one category. I'm stunned. And disappointed. And confused. And we have no prognosis. So I can't even say, ok, this is to be expected, this is how it goes, this is where she will end up. Because we still don't know. 

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Just remember that she has made so much progress. It's hard when you are faced with test results but she has come far and hit many milestones in the past year. Every inch is a reason to be proud.

 

Hang in there. I hope you get answers soon

 

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Have you looked into chromosome testing? I have a child who never even got on some charts he was/is so far behind. Those first few years are hard because you hope and hope and keep getting hit with those stupid charts and the reality of a child who is just not doing what they are supposed to do despite the progress you see.

 

 

 

 

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Have you looked into chromosome testing? I have a child who never even got on some charts he was/is so far behind. Those first few years are hard because you hope and hope and keep getting hit with those stupid charts and the reality of a child who is just not doing what they are supposed to do despite the progress you see.

 

 

 

 

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Yes. We have taken it as far as we reasonably can. We ruled out everything. 

 

She really, strongly indicates Prader-Willi, but the test was negative.

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I feel like maybe she should see a geneticist, D is strongly against further testing, and it likely wouldn't be helpful. Whatever is going on probably is unique. So while we might be able to name it, no one can really tell us anything about it.

But I also have an unnamed genetic syndrome, and I also had delays, so I guess I should be ok with this.

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I wonder if the test is prone to false negatives or doesn't catch, say, a mosaic version of it?

 

I'm sorry she failed her screenings. I'd be really upset and confused too. It sounds like Luna has made incredible progress in her own right, even if she isn't up to the average level for other kids her age. She is her own girl and you're doing an amazing job supporting her to be the best Luna she can be. Gentle hugs, mama!

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Some children, my oldest son comes to mind, progress at their own rates. My mom use to tell me not to compare him to others that he was on his own trajectory. I kept detailed journals so I could look back and cheer him on with how much progress he had made. He walked early, but talked late, potty trained late, had trouble learning to read, was hyperactive, and on and on.......  It often seemed he took one step backward for every step forward. He finally started sleeping through the night and seemed to forget he was toilet trained. He'd learn to zip his coat and suddenly couldn't remember how to velcro his shoes. He didn't tie his shoes until he was almost ten. He is the reason I started to home school so I could constantly readjust his schooling. We did everything possible to maximize his independence and encourage him to socialize and learn critical thinking skills. It was often hard and discouraging. So many times I called my mom crying...... But and this is a huge but...

 

He is a teenager with a wide range of opinions, interests, and friends. He on track academically, except for writing, the child hates to write. He has plans for his future (maybe not the one I envisioned when he was a baby). He wants to be a vet tech, learn to drive a car, rent an apartment with his best friend and raise snakes. He falls in love every other week, lives to play RPGs with his friends, and regularly argues with his dad and I about all teen age things. He volunteers at an animal shelter, has good relationships with his family, and plans to marry and kids some day. I never imagined at 3 or 5 or even 8, his future would be this bright. He may never obtain a 4 year degree or make lots of money but this is light years beyond the future a doctor once gave us where he would never be able to live independently, drive, make friends, or even read at a 5th grade level.

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I wonder if the test is prone to false negatives or doesn't catch, say, a mosaic version of it?

 

I'm sorry she failed her screenings. I'd be really upset and confused too. It sounds like Luna has made incredible progress in her own right, even if she isn't up to the average level for other kids her age. She is her own girl and you're doing an amazing job supporting her to be the best Luna she can be. Gentle hugs, mama!

I believe the test is accurate. There is a similar, related syndrome, but she definitely doesn't have that. Honestly, I'm afraid to ask if the result might be wrong. If she continues to show so many symptoms, we will probably retest in the future. Or something. I don't even know.

 

She has made great progress, and continues to make strides. She climbed on two playgrounds last week, and today she crawled on both hands and knees. This is all new stuff for her. She has a weak shoulder she has never put weight on, and her depth perception is poor. These are huge achievements for her. Huge.

 

I know that the screening takes nothing away from her. It doesn't lessen her progress. She is still striving in great ways. 

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I'm so sorry. I'm sure that felt like a slap in the face. 

 

Hugs.

 

Have you seen a developmental pediatrician? That might be the way to get a full diagnosis. Or maybe at a children's hospital. 

 

No. That might be a good next step. 

 

She failed her hearing screening, too. I'm sure that will need to be addressed as well. And she has lost most of her speech. I don't even know what to do about that.

 

I don't like her pediatrician. But I don't know what to do about that either. 

 

Meanwhile, I need to address my own health stuff, Sagg just had two root canals redone, and Gem also needs to see a specialist. 

 

We are celebrating her birthday this weekend. We didn't last year because I couldn't throw her a party not knowing if it would be her last. Now we at least know that she is physically strong. She will live and she will thrive. 

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Yes. We have taken it as far as we reasonably can. We ruled out everything. 

 

She really, strongly indicates Prader-Willi, but the test was negative.

 

Our son had all chromosomes tested to look for abnormalities when he was a newborn because he had a heart condition consistent with Chromosome abnormalities.  He has a really really rare chromosome problem that doesn't even have a name - only markers. A very very small portion of one side of his 8th chromosome duplicated and inverted itself.  It's caused chaos.   I've found that parents tend to do above and beyond the first five years or so, like I did, because they can beat "this".  I saw my friend do this with her daughter.  She was wearing herself out to help her daughter beat her diagnosis.  I don't think that's all bad because it probably progresses some kids past where they could be.  It seems around 5 years old or so, there's an acceptance of a disability  - maybe an acknowledgement that they may never catch up - and then you raise the child you have helping them to be the best they can be.  It was frustrating to us when they stopped using the charts.  It meant for us that he really wasn't progressing much at all any more.  Today, he's happy, content, and social but still has interests that he had when he was 18 months old at almost 18.  

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She failed her hearing screening, too. I'm sure that will need to be addressed as well. And she has lost most of her speech. I don't even know what to do about that.

 

 

Learn to sign.

 

A recognised language is better than no recognised language while you wait for the universe to put an answer in your path.

 

 

You're a mamma who pays attention. You're going to provide what seems useful at the time, and each achievement puts her closer to the next achievement. If you're supporting her to function at *her* personal best, that's bloody brilliant, no matter what society thinks her personal best ought to be.

 

:grouphug:  :grouphug:  :grouphug:

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Learn to sign.

 

A recognised language is better than no recognised language while you wait for the universe to put an answer in your path.

 

 

You're a mamma who pays attention. You're going to provide what seems useful at the time, and each achievement puts her closer to the next achievement. If you're supporting her to function at *her* personal best, that's bloody brilliant, no matter what society thinks her personal best ought to be.

 

:grouphug: :grouphug: :grouphug:

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Luna failed her 1 year developmental screening.

She just turned 2. Her home teacher did her new screening. 

 

She failed again. In all but one category. I'm stunned. And disappointed. And confused.

 

Is it possible she failed it by a smaller margin?

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Be forewarned that if the issue is a language-based learning disability as opposed to a speech problem, trying sign language may not help. By all means give it a shot, but I did "baby sign" with all 3 kids & the one with SN's (including progressive hearing loss) never picked it up. The way her brain is wired, she has problems learning language and it doesn't matter if it's a visual language or an auditory one. Her cheerleading coach is an ASL Interpretation major and was teaching the team some signs at the last practice.The neurotypical girls were picking them up easily and my DD was struggling. Her non-verbal IQ is in the gifted range but there is something about symbolic understanding that is super-hard for her. Doesn't matter if it's language, learning to do math with numerals rather than manipulatives, playing charades, etc.

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Try not to worry about failed tests. If she barely passes, sometimes valuable services can be deemed unnecessary. Hold on to those services if she's making progress and go with what works for your child. Try to ignore labels because they're not entirely accurate without a diagnosis. I have a special needs child and remember those years when I just KNEW something was wrong but didn't know what it was. Keep searching. Knowing what it is gives you the power to seek treatments specific to your case and, at the very least, to get online support from parents in the same boat. I'm sure your husband is hesitant for valid emotional reasons, but keep following up until you get answers even if the answers are hard to swallow.

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Be forewarned that if the issue is a language-based learning disability as opposed to a speech problem, trying sign language may not help. By all means give it a shot, but I did "baby sign" with all 3 kids & the one with SN's (including progressive hearing loss) never picked it up. The way her brain is wired, she has problems learning language and it doesn't matter if it's a visual language or an auditory one. Her cheerleading coach is an ASL Interpretation major and was teaching the team some signs at the last practice.The neurotypical girls were picking them up easily and my DD was struggling. Her non-verbal IQ is in the gifted range but there is something about symbolic understanding that is super-hard for her. Doesn't matter if it's language, learning to do math with numerals rather than manipulatives, playing charades, etc.

 

Same with my dd. She doesn't have a hearing loss, but her language disorders affect her Auslan just as much as her English. Still, it's worth giving it a go because learning some is better than learning none.

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One of the best things I have done, is keeping all of the old paperwork from evaluations.  On the bleak days, where it seems we are standing still, or even going backward, I have been known to pull them out and reread them, just to see how far we really have come.  

 

Being a year behind in development seems huge at 2yo.  But if that child makes 1 years progress in each of the next 12 years, that can  put them in the relatively normal range at 12-14yo.   It can be hard to see when the issues are so big, but knowing that she is making steady progress in multiple areas, is a wonderful achievement!  Her brain is learning and developing still, so there is great hope for her to continue to strive and move forward! 

 

((Hugs))

Edited by Tap
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I think a lot of us walk similar roads if not the same exact road. I used to look forward to doctor appointments because I thought, "Now I will learn more. I'll come out of here with a new understanding of my daughter." That just doesn't happen (at least for us). And it is hard to get used to. Dd is almost 20 now, and life is a lot more stable, and I would say easier and happier, than when she was under 5. She never did progress much but she is happy and enjoys her life.

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Learn to sign.

 

A recognised language is better than no recognised language while you wait for the universe to put an answer in your path.

 

 

You're a mamma who pays attention. You're going to provide what seems useful at the time, and each achievement puts her closer to the next achievement. If you're supporting her to function at *her* personal best, that's bloody brilliant, no matter what society thinks her personal best ought to be.

 

:grouphug:  :grouphug:  :grouphug:

She does sign. She can communicate. She used to speak in sentences and now she does not. She only signs a few words consistently, and its just not the same level of fluency as when she was telling knock knock jokes.

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Is it possible she failed it by a smaller margin?

Two categories were by a small margin. The rest were substantial.

 

Edit: I think I misunderstood. Hmm. I would say the margins are not smaller, or not much smaller. Her basic skills have improved greatly, as in, she walks now, feeds herself, etc. The big, noticable things. But the measurement is still showing big gaps. 

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:grouphug: I think a lot of us have experienced that sort of hit. I know after a while I tried to prepare myself by anticipating negative news. I think I still do it somewhat, and that's not a good way to live.

 

It's also really hard not to have an over-all dx to explain all the individual stuff (it was a really long time here to get firmer answers). I feel for you. I suspect you will get answers eventually, and it will help to have a name. I hope so. :grouphug:

 

ETA: She's lost skills? Have metabolics been explored at all? I don't know what range of issues you're seeing--are there multiple body systems involved?

 

I hope this week-end is a great birthday celebration.

 

 

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We are celebrating her birthday this weekend. We didn't last year because I couldn't throw her a party not knowing if it would be her last. Now we at least know that she is physically strong. She will live and she will thrive. 

 

Oh, Strawberry, you guys have been through a lot and are still going through it now.

The worst is always not knowing - the uncertainty. It is often a relief to have a diagnosis. At least you can look things up, get together with other parents who have children with this diagnosis or similar experiences.

 

I agree with others who have said to rejoice in the tremendous progress she has made. She is advancing in all areas except speech from what I understand.

Is speech therapy something to be explored? Could there be a physical anomaly (jaw, mouth) that prevents her from forming words or do you feel it is a cognitive issue?

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This is hard. Very very hard.

 

I remember once when one of mine was 2-3 years old I just cried and cried during their nap time.

 

I have 3 with special needs but one that has lost skills as well....Or lost them for a while and then very slowly got some back as she got older.

 

Do you have any inperson support from other parents in similar situations? Even an online support group is helpful. These people know what you are going through and often have ideas and resources even the doctors don't know about.

 

I agree with genetics or neurologist...And I would test for mitochondrial disorders. Testing is now a simple blood test and that can provide some answers. We did that and found our one daughter to have 3 different mutations...Only known case in the world to have these in combination. Her sister has 2 of the 3 but is less affected. Right now there is no cure but there are supplements that can help and cures are in the pipeline and under clinical trial for some of them. I would suggest a large children's hospital even if it means hours of driving.

 

Are you linked up with your local public school special education program for infants and toddlers? They can be a huge resource as well.

 

I am currently teaching some of the most severely impaired 3-5 year olds in our county....Kids that don't talk or walk and have skills from 6-18 months in many areas. For some of the kids we are making great gains, for others much smaller gains.the therapists and teachers though have tons of ideas to address needs from language to motor skills to sensory, etc. Even if you would not want to send her to a program (some of our kids only come 1-2 days a week) there is a wealth of knowledge and experience to tap into.

 

I used to always say that we got piece after piece of our puzzle....But I just wanted to see the picture on the box as we had no idea what the puzzle was we were building.

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If she had a diagnosis, would there be any medication or therapy that could help her? If not, then don't put too much energy into finding a label.  If she is making progress, you are already doing what you need to do.  Or assume she has Prader-Willi but "not otherwise specified" as in kinds looks like P-W without meeting all the criteria.  It is easier to "explain" my now adult son with the word "autism" when he actually has more of a Landau-Kleffner-Syndrome -Variant/PPD-NOS. 

 

Is there a Prader-Willi Not Otherwise Specified diagnosis you could use if needed to access services if needed?

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Learn to sign.

 

A recognised language is better than no recognised language while you wait for the universe to put an answer in your path.

 

 

You're a mamma who pays attention. You're going to provide what seems useful at the time, and each achievement puts her closer to the next achievement. If you're supporting her to function at *her* personal best, that's bloody brilliant, no matter what society thinks her personal best ought to be.

 

:grouphug:  :grouphug:  :grouphug:

 

Rosie, you are such a "board" treasure!

 

Outstanding advice (as always!)

 

 

Desert,   :grouphug:  :grouphug:  :grouphug:

 

Continue being such an amazing Momma!  Luna is so lucky to have you!

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No. That might be a good next step. 

 

She failed her hearing screening, too. I'm sure that will need to be addressed as well. And she has lost most of her speech. I don't even know what to do about that.

 

I don't like her pediatrician. But I don't know what to do about that either. 

 

Meanwhile, I need to address my own health stuff, Sagg just had two root canals redone, and Gem also needs to see a specialist. 

 

We are celebrating her birthday this weekend. We didn't last year because I couldn't throw her a party not knowing if it would be her last. Now we at least know that she is physically strong. She will live and she will thrive. 

 

Oh, hugs! I'm so glad you are going to be able to celebrate for real!!!! 

 

And yes, you need one specialist to give an overarching diagnoses. Otherwise the individual people give small diagnoses related to their fields but no one gets the big picture. If you tell us your area maybe someone knows of a good developmental ped to refer you to. 

 

I'd also have on the back burner the idea of mitochondrial disease...it can cause things like you are describing but mitochondrial DNA isn't tested in the same way, so the genetic screening you already did wouldn't catch it. 

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I so understand the heartbreak when a child doesn't reach milestones. My advice is to celebrate every accomplishment she does make! It is also ok to have a pity party and feel really really sad but then you must (for her sake and yours) to wipe your tears and put on a smile. That is SO much harder to do than to say. 

 

My older son has Cerebral palsy and intractable epilepsy. He is 17 and such a joy! He brings so much happiness to our lives. But the other day a friend of mine posted her son's college acceptances on Facebook. He is the same age as my son. For some reason that particular post hit me in the gut. I haven't felt this way since my son was a baby and newly diagnosed. 

 

(((Hugs))) to you. 

 

 

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Metabolic testing has come up a couple of times. Yes. SHe has been tested. That was the first thing they ruled out. 

I don't know about mito disorders. I just don't remember if that was included. I can check. I feel like we would have, because is something I was worried about. I know someone who lost her daughter to unknown mito disease at Luna's age. That was my main motivator to get a diagnosis. With some of these things, death is swift and unexpected. If we knew that she was at risk for , say, arterial rupture, we could watch her for that before it's too late. 

I think I have peace about this. We have been to playgroup and story time, and doing therapy games at the library and at home. She's really doing very well. I'm going to set this aside, and not stress over it. I will schedule her appt and speak to our health care provider and just keep doing what we're doing. I'll be giving her screening results to her therapist ans probably requesting a new goals meeting with her team. I feel like she isn't getting as much out of it as I want her to the past couple of months. 

So...deep breaths, and baby steps. And now I'm going to snuggle my baby. 

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OP,

When you mentioned losing skills and I asked about multiple body systems, I was wondering about mitochondrial issues. Not all of them look as severe as what your friend experienced. My son has a mutation affecting mitochondrial function that was written up in a journal (he was highlighted because he has two issues on the gene). The adults in the journal article seemed to be doing pretty well considered. I don't expect him to die of it, though that was what I was led to expect initially.

 

Anyway, I'm going to link the umdf symptoms list. http://www.umdf.org/what-is-mitochondrial-disease/possible-symptoms/ But losing skills and fluctuating skills are common with metabolic conditions. Not all metabolics are simple to screen out with a test, and mito is definitely not one of those simple screens to definitively rule out to my knowledge.

 

My son is doing really well on medication.

Edited by sbgrace
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