looking for answers ... update post #34

[Lillypop]

My DSS is 31 months old. We know something is wrong but have no idea what it could be. I've been posting in "Toddlers" but I've been directed here bc you all have more experience with special needs and such. Here he is, in a nutshell:

-cannot run
-cannot jump with two feet
-cannot stand on one foot
-cannot walk down the stairs holding the railing (crawls down)
-extreme hunger
-gorges at meals
-chokes/gags/regurgitates often bc he eats so quickly
-23 pounds, normal height
-very low muscle tone
-potbellied appearance
-seems sad (frequent crying outbursts, unprovoked & seemingly w/o reason)
-walks without confidence
-clumsy
-uncoordinated
-avoids rough or uneven surfaces (grass, stones, brick walkways)
-tired and upset after walking 10-30 feet
-walks wide-legged, and very slowly, and not the normal heel-toe
-has more of a toe-walk, or plants his foot down flat
-open mouth gaping when concentrating on walking

We have an appt with a neurologist tomorrow.

[Monkeypants]

Going to the neurologist is a good first step- you will most likely know a lot more after your appointment. Good Luck!!!

[2boyzmama]

Has he seen any other specialists? Is he in early intervention, receiving physical therapy or occupational therapy? Has he had any other testing, MRI?

GOod luck at the appt, give us an update!

[kozer1]

The neurologist is definitely the place to go. I would bet he would want to do an MRI. That's a good place to start looking for things. I don't have much advice to offer, but can only say my autistic son (high-functioning) shares many of those characteristics. (Not saying your son is on the spectrum! Just wanted to share.) How is your son's speech development? Or are you only seeing these motor delays?

[Lillypop]

His speech development is slightly less than average for his age, but still well within the realm of normal.

We have seen only a pediatrician last Wednesday (it took me a lot of campaigning to get DP to see that there really is something wrong so we could make THAT appointment). The only testing they did was an iron fingerstick ... and he isn't anemic.

He has had nothing else ... we are waiting for a return call from EI, but they do have 30 days to respond, and hopefully they will set up OT and PT to help him.

[Kathy2579]

I just want to know if you have anymore info form the Neuro... did you also see if you could get a consult with developmental pedi?

[~cassie]

A lot of the physical stuff is most likely from the low tone. I hope you are able to get a clear picture soon.

[Lillypop]

DSS had the appointment with the neurologist today. They want to do bloodwork tomorrow, and an MRI and an EEG at some point in the future. Gonna try to get the blood drawn (it's a full panel ... to rule out multiple sclerosis, muscular dystrophies, etc.) when we do the MRI since DSS will be sedated and won't have to go through being awake and alert while having his blood taken. The neuro wants to see him in 2 months, to give time to have the blood taken once, and then again a few weeks afterward, and for the results of the MRI and EEG to come in, and to also give EI a chance to get in touch with us and start working with DSS.

So, no answers yet. No mention of a developmental ped. I'm gonna call EI again (or I guess it's MHMR through the county) tomorrow if I don't hear from them in the morning.

The 3 oldest are with their biomom tonight, and she was a wreck today. Crying, upset, etc. We hate that she can't be in control of herself around the children.

[sbgrace]

They need to look at metabolics as well. http://www.mothering.com/discussions...d.php?t=734501 If the mitochondrial profile fits it gets tricky because the testing isn't so straightforward and only a handful of doctors/locations know enough to know when and how to look. If hypotonia isn't from a chromosome type genetic issue (you'd see other signs) or physical damage/injury it's almost always metabolic.

[Lillypop]

DP and I have had it rough for the past few weeks. We've discussed a lot about our expectations of each other, of the children, coming to terms with our lives not being as we envisioned them when we were younger ... ie not "picture-perfect" what with our exes, and dealing with the back and forth of shared custody.

I am really trying to be intentional, and keep the mindset that life is good and God has given me so many gifts, and I am happy so I need to BE happy. It's been a challenge.


For the following, copying from sbgrace to add DSS's info (thanks for the link!)


Possible symptoms of mitochondrial disorder (it would affect three areas in mito disorder--not all areas so brain may be unaffected; muscle is frequently and it seems energy is as well):

Brain: Developmental delays (inc. autism, ADD, learning difficulties), regression, mental impairment, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes. He is obviously developmentally delayed. He can't run, or jump, and can hardly walk with any confidence. We believe he has absence seizures.

Muscles: Weakness, hypotonia/low muscle tone, cramping, muscle pain. He has hypotonia, and weakness as well.


Systemic: Failure to gain weight, short statue, fatigue, respiratory problems including intermittent air hunger. He is very underweight, despite eating as much food as most adults and then some, he is on the shorter side of normal, and of course he's always tired (fatigue).

Nerves: Weakness (which may be intermittent), neuropathic pain, dysautonomia, absent reflexes, gastrointestinal problem (gastroesophogeal reflux, delayed gastric emptying, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems. Again, with the weakness. He is also usually constipated. He sweats more than the other kids do ... DP says that DSS just "runs hot".


Kidneys: Proximal renal tubular wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.

Heart: Cardiac conduction defects (heart blocks), cardiomyopathy.

Liver: Hypoglycemia (low blood sugar), liver failure.

Eyes: Visual loss and blindness, some forms of strabismus.

Ears: Hearing loss and deafness.

Pancreas: Diabetes and exocrine pancreatic failure (inability to make digestive enzymes). Some individuals diagnosed with diabeties actually have diabetes secondary to (caused by) a primary mitochondrial disorder.

We don't know anything yet about heart, kidney, etc. He's never had any testing done to check for problems.

I will call the neurologist today to talk about doing the bloodwork during the MRI and ask then if he is going to test for metabolic issues as well as mitochondrial disease. Thank you so much!

[Anastasiya]

Lillypop, how long do you think before you have answers? A matter of days with all the tests, or weeks?

[Lillypop]

The neurologist wants to see us in two months, so that's the earliest we could have a diagnosis.

He wants to give time for all of the test results and labs to come back, plus time for EI to get in touch with us and start working with DSS.

I did get in touch with the neuro's nurse and he says we cannot do the blood draws during the MRI. So DSS is going to have to just be upset for a bit for the blood work.

DP took DSS to the lab but didn't know it closed at 3pm, so he's gonna go back early tomorrow to get it done.

The orders for the blood work is of course a complete blood chemistry and CBC, as well as for celiac disease, CPK, and whatever it is to rule out multiple sclerosis (my brain's kinda foggy right now). He didn't order any urine tests, and I thought he would. I'll ask him about that when we're in again. And how would they get a urine sample on a not quite potty-trained 31-33 month old? A straight cath?

[shelley4]

see if you can pick up some Emla cream for the blood draw... it will numb his skin.. but needs to go on 30 mins ahead of time. we use it all the time for my ds's blood work, and it really helps!

[BookGoddess]

At the blood draw, ask for a butterfly needle. They should have it. It's for those who have shallow or delicate blood vessels. It works great with little kids who have smaller blood vessels.

[sbgrace]

They can give you a bag that you attach to collect urine. It's relatively easy for a non potty-trained boy (compared to girl I imagine).

If you can have a doctor order the labs listed under blood and urine on the umdf.org site I would do that in your circumstance. They should be fasting labs if he routinely and safely sleeps through the night. Hes got plenty of markers to be thinking metabolic.

All of this is a grief process.

[Lillypop]

The blood tests aren't fasting. The neuro didn't mention that at all, just to drop in at the lab whenever. He is going to order a 2nd round of blood draws in a few weeks (not sure exactly what those will be).

[Lillypop]

update: We've had DSS off of gluten and dairy for a week (just on a whim we decided to try it in hopes that it would help) and his behavior (the sadness, the lethargy) has improved noticeably. Not a perfect fix, but it's a step in the right direction. We've been very strict with it, but DSS's biomom is sort of clueless about lots of things (she told us she fed the kids McDonald's chicken nuggets and fries for dinner the other day because she didn't think the breading would be "that much" gluten). She also cannot/refuses to avoid processed and packaged foods. We're slowly working with her. I hate that she willingly feeds the kids crap food .

I also called and scheduled an appointment with an allergist. I'm hoping they'll test for food intolerances as well. If not, another doctor, another test.

[dakotablue]

I'm glad the gluten free is working. Hopefully when a clearer diagnosis is given then biom will be more on board. I think since she doesn't see it she doesn't feel the need to follow it. Extremely frustrating.

If you are concerned about the possibility of celiac and allergies I would get the test soon, because once someone is off of the foods for a while they can sometimes get a false negative.

I will suggest you edit the title of your original post to included that you updated in #?. I've been following your story since you first posted about it, although have no real suggestions as its totally out of my realm of knowledge. I just happened upon it because I noticed you were the last poster. I know others are looking forward to updates to possibly help and offer support.

[half-pint]

I am chiming in to mention genetic testing for Prader-Willi Syndrome, which is what my son has. Common traits for PWS are :
* At birth - floppy baby (hypotonia), feeding difficulties, undescended testes in boys, failure to thrive
* some dysmorphic features such as almond shaped eyes, puffy hands/feet

* Hypotonia, developmental delays throughout life
* short stature, not on growth chart
* feeding problems develop into hyperphagia, or constant eating and inability to feel full. Usually followed by rapid weight gain.
* typical for people with PWS to be unable to vomit
* rapid weight gain usually does not start until age 3+
* temperature regulation problems
* for deletion sub-type children are usually fair/hair skinned, but not for other subtypes of PWS
* typical for blood draws to be difficult

It is a spectrum disorder so not every child will fit the profile.

You can visit pwsusa.org for more info and to view other children - many of them have a particular "look" or similarities.

[BookGoddess]

Originally Posted by Lillypop

I also called and scheduled an appointment with an allergist. I'm hoping they'll test for food intolerances as well. If not, another doctor, another test.

Allergists typically test for IgE reactions - the serious anaphylactic reactions, but you also want sensitivities which are IgG or IgA reactions tested as well. Insist on the ELISA test (Enzyme-Linked Immunosorbent Assay) because that will show food sensitivities. The results will show as +1, +2, +3 or +4, depending on the level of antibodies found in the blood draw.