Re: newbie w/20 month old son - need advice

[Guest guest]

First of all welcome to the group. I also have a two year old with mitochondrial disease. I am not too good at the labs and MRI results, but I am sure someone else can help you there. As far as the therapy's go, we are doing OT and Speech Therapy for Grace. At 24 months she had fewer than 5 words, and they were baby talk. Unbelievably at 26 months she has about 10-15 words that she can say clearly, and many more that only we can understand. I really do believe speech therapy has helped her.

She has also just started OT for oral motor stimulation. The therapists agree that for her she is not speaking because the muscles in her mouth are not strong enough to make the sounds correctly. OT is not going as smoothly as Speech has, but we were also just told today that they believe she has Sensory Integration Disorders. Now, her OT is spending more time with the SID to overcome that, then we will work on muscle tone.

Physical Therapy has been recommended because of her awkward walk, and clumsiness, but we are waiting until we see the orthopedic doctor first (later this month) to see if he thinks it will be beneficial or not.

You also asked the difference between OT and PT. OT is more for fine motor skills, including oral motor skills, and sensory integration disorders. PT is more for the gross motor skills, walking, running, ect.

We were told it is time to start Speech Therapy at two if they are not talking yet. Before two, it is usually recommended to try to use baby sign along with encouraging the use of sounds. We were able to learn the sign through our county's early intervention, but a speech therapist is also able to do this if there are no other recourses around you. You can also teach sign to him yourself, through websites and books. As far as OT and PT goes, they start that when there is a need. I have seen infants going for PT, where Gracie goes for her therapy.

Best wishes, I hope everything goes smoothly for you.

[Guest guest]

Hi- am new to the list, by just a few months. My two year old was just diagnosed recently, but I have had her in private therapy and Early Intervention services since 15 mos. due to balance issues, poor muscle tone, delayed gross and fine motor skills and no language skills.

First thing I did was start baby sign- amazing results www.babysigns.com, moved quickly to ASL as we ran out of signs..baby sign is meant to be a bridge language from 6 mos. or so until talking- so there are limited words. The baby signs book has a great website you can download the pdf and start today for a small fee. Once you move to ASL there is a great series for little ones and kids learning ASL , called Signing Times. ( www.signingtimes.com ( I think..) well worth the money. Also, look for books aimed at teaching kids signs-easier to learn. THE most important concept about all therapies( in my opininion only) is that is teaches us tools to help our children grow and learn, within our home. My daughter was eval.at 15 mos - her expressive language was at 3 mos, but receptive at average level. How frustrated she must have been. Now, she can tell me milk, water ,juice etc etc.. Also behavior wise she is a happy kid, I believe the language tool helps minimize the behavioral challenges of a 2 year old who cannot express herself. The speech / oral motor therapy helped me stimulate her mouth daily which helped her progress her feeding and vocalization- both huge improvements developmentally.

PT has helped strengthen my daughter tremendously, the inserts for her shoes they recommended improved her balance, they gave me tons of fun excercises we do playing around as games at home that put her closer to taking steps. They provided and recommended a walker to aid her attempts at walking and stregthen her gait,etc etc.. I believe this therapy particularly has strengthened her independence and given her some pride in newly aquired skills- but it also has helped educate me along the way. No one could figure out why her progress at these therapies was so slow until our diagnosis- but she did progress... also more importantly with viruses causing regression , the therapists were already in place to help refresh the skills that had become more rusty during low energy periods.

The bottom line in my opinion, is the more you can do to stimulate your childs development in the early years- without stressing them ( just educate your therapists, they understand muscular and metabolic issues easier than some other professionals,) the further your child will grow and the more the skills will develop.

Make sure if you do speech you are also focusing on oral motor issues as well - my therapies are divided and I feel that is more useful for me. I have done a lot of repetitive stuff in my own home and continue to involve it with play, when the opportunity arises. I try not to overdue , after all as my friend told me recently is my job is to be her mom and let her therapists, do the therapy" however I think balance is good.

Finally, I have found my therapists to be a great resource of information, observation and resources. I ask them to write up a status report before major doctor consultations to chart her progress etc. etc.. They also can help me pinpoint some smaller issues that I am still learning about with her body- subtle fatigue signs etc..

Finally again- They say the critical window for learning language is 0-3, I am sure your research will further document that, but I believe it to be true, so how can it hurt??

Hope I havent overstepped my opinion, BTW my daughter ZOe is 26 mos...

Suzanne M. man Embroidery Journal Inspiring Ideas for Home Embroiderers and Professional Crafters

www.embroideryjournal.com or fax

-----Original Message-----From: ilikemonstertrucks Sent: Tuesday, August 03, 2004 5:22 PMTo: Mito Subject: newbie w/20 month old son - need adviceWell I wrote up a rediculously long intro late last week, but it appears to have been eaten by yahoo... and i really dont want to retype it... so... in a nutshellIm 22, my 20 month old son has possibly been diagnosed with a mitochondrial disorder (it is likely he inherited it from me, as i too have a long twisted and bizarre medical history thats never been explained). Anyways, my son:In Jan 2004 we had the first (rather dramatic) signs of trouble, he had an 'episode' where over a period of a week he went from a healthy happy, walking (running) toddler, to a very sick baby who could barely lift his head (started out as stumbling with his toes scrunched up and feet turning in, then he stopped walking, then eventually couldnt even sit up anymore... all along he had an angry red rash over his whole body, and started throwing up on day 3. he needed IV for 3 days just to stay hydrated). initially it was thought to be 'post viral cerebellitis' and he recovered quite quickly and was walking again within 2 weeks. he didnt however make a full recovery (he is still stumbly, and his feet still scrunch up and twist in sometimes), and was still not saying any words by 16 months, so further testing was done. His ongoing issues are: (this is what led them to think of mitochondrial, along with my own issues which include kidney, heart, adrenal, and nerve damage, as well as autonomic failure, 'white spots' on my MRI, damage to my macula (eye), and the list goes on)-His MRI shows 'increased signal' in the deep white matter, as well as the globi pallidi (basal ganglia?). -His carnatine is low -His lactic acid is high-His urine organic acids was abnormal (?? anyone heard of this?)-His feet still 'scrunch up' (toes curled under), and turn in on occasion (causes him to stumble)-He gets frequent viral infections, and rashes that go along with them-He runs EXTREMELY high fevers for no apparent reason (last one was end of june i took him to the ER with a temp of 106.8) that run for a few days then go away. -He is FINALLY saying 2 words, so were very happy about that!-His hands tremble, especially when hes just waking up, we were told this is likely due to the involvement of the basal ganglia (?) however when hes concentrating on something, his fine motor control is extremely good (can put pegs into a crib board!).Im sure im forgetting stuff, but overall in spite of all that, he isnt HUGELY affected by any one problem... his balance is not great, but not terrible either... his talking is a concern (2 words at almost 2 years), but the fact that hes learning to talk now is reassuring... What im seeking advice on is this. He has been referred for speech therapy, however the waiting list (were in Canada) is about a year and a half minimum. If I wanted to, I could get him in earlier, im just not sure how necissary it is at this point. he hasnt been referred for anything else yet... Im curious about your experiences, and how you would reccomend I approach this. If I wanted, I could have him in Occupational, Physical and Speech therapy withing a couple months, however I not only have no clue what they are, I dont know how effective they are at his age... Given your experiences, do you think he would benefit from these things this early one? what exactly do they do at each different therapy, and what can they do at this age? We see the genetic metabolic/mito specialist in September, (hopefully earlier if theres a cancellation) and will likely consider a muscle biopsy at that point, as well as any treatment if she reccomends anything yet... If I want him to be in these therapies, I will need to request a referral from her, so I need to make that decision ahead of time, and go from there... any advice would be awsome! thanks!Keely(sorry so long!)Please contact mito-owner with any problems or questions.

[Guest guest]

Hi! I don't post often, because I'm new too and I haven't really had

any helpful info to contribute! But, you're post hit a spot because

it is so similar. First, welcome. This is a great place and just

reading the information has been a tremendous help to me and I'm

sure it will be for you too. The only advice that I can give you is

that therapy at that age is a tremendous help and I would do any and

all help/therapy that you can get for your son. My daughter is

almost two, she was typically developing normal until she turned

one. (Although she didn't start crawling till 11 months.) Then, on

her 1st birthday (9/9/04) she got her first flu bug (what a

present.) From then on, she went from not being able to sit up

anymore, to not even being able to lift up her head. The doctors

thought it was encephelitis. After seeing white matter on her basil

ganglia, they began looking into mito. They have not come up with a

definate diagnosis as of yet, and she has had MRI's, MRS,

blood/urine tests, and muscle/skin biopsy (be sure you get a fresh

one done). We are still searching. That leaves now. She soon began

therapy. At first it just looked like a waste of my time cuz it

looked like play, but she began to hold up her head, and can now

roll over. She cannot sit or crawl or walk or say any words. But

therapy was able to get her devices that help her and me. She has a

wheelchair and props that assist in play at home. Her feet and toes

also curl in. She wears Orthodics? on her feet. These help with

that. (Might be something to ask...) As for speech, I am too on a

year waiting list. We are getting some guidance on using visual

cards to communicate. These will help her use her brain more and may

be the first step to being able to verbally communicate. So, I feel

OT, PT, and speech is very important for Lily. Sorry this was so

long. I hope I was of some help! If you want to talk, please email

me. amyrd@...

Amy

mom to Lily, almost 2, undiagnosed mito; and Austin, almost 5

> Well I wrote up a rediculously long intro late last week, but it

> appears to have been eaten by yahoo... and i really dont want to

> retype it... so... in a nutshell

> Im 22, my 20 month old son has possibly been diagnosed with a

> mitochondrial disorder (it is likely he inherited it from me, as i

> too have a long twisted and bizarre medical history thats never

been

> explained).

> Anyways, my son:

> In Jan 2004 we had the first (rather dramatic) signs of trouble,

he

> had an 'episode' where over a period of a week he went from a

> healthy happy, walking (running) toddler, to a very sick baby who

> could barely lift his head (started out as stumbling with his toes

> scrunched up and feet turning in, then he stopped walking, then

> eventually couldnt even sit up anymore... all along he had an

angry

> red rash over his whole body, and started throwing up on day 3.

he

> needed IV for 3 days just to stay hydrated). initially it was

> thought to be 'post viral cerebellitis' and he recovered quite

> quickly and was walking again within 2 weeks. he didnt however

make

> a full recovery (he is still stumbly, and his feet still scrunch

up

> and twist in sometimes), and was still not saying any words by 16

> months, so further testing was done.

> His ongoing issues are: (this is what led them to think of

> mitochondrial, along with my own issues which include kidney,

heart,

> adrenal, and nerve damage, as well as autonomic failure, 'white

> spots' on my MRI, damage to my macula (eye), and the list goes on)

>

> -His MRI shows 'increased signal' in the deep white matter, as

well

> as the globi pallidi (basal ganglia?).

> -His carnatine is low

> -His lactic acid is high

> -His urine organic acids was abnormal (?? anyone heard of this?)

> -His feet still 'scrunch up' (toes curled under), and turn in on

> occasion (causes him to stumble)

> -He gets frequent viral infections, and rashes that go along with

> them

> -He runs EXTREMELY high fevers for no apparent reason (last one

was

> end of june i took him to the ER with a temp of 106.8) that run

for

> a few days then go away.

> -He is FINALLY saying 2 words, so were very happy about that!

> -His hands tremble, especially when hes just waking up, we were

told

> this is likely due to the involvement of the basal ganglia (?)

> however when hes concentrating on something, his fine motor

control

> is extremely good (can put pegs into a crib board!).

>

> Im sure im forgetting stuff, but overall in spite of all that, he

> isnt HUGELY affected by any one problem... his balance is not

great,

> but not terrible either... his talking is a concern (2 words at

> almost 2 years), but the fact that hes learning to talk now is

> reassuring...

>

> What im seeking advice on is this. He has been referred for

speech

> therapy, however the waiting list (were in Canada) is about a year

> and a half minimum. If I wanted to, I could get him in earlier,

im

> just not sure how necissary it is at this point. he hasnt been

> referred for anything else yet...

> Im curious about your experiences, and how you would reccomend I

> approach this. If I wanted, I could have him in Occupational,

> Physical and Speech therapy withing a couple months, however I not

> only have no clue what they are, I dont know how effective they

are

> at his age... Given your experiences, do you think he would

benefit

> from these things this early one? what exactly do they do at each

> different therapy, and what can they do at this age?

> We see the genetic metabolic/mito specialist in September,

> (hopefully earlier if theres a cancellation) and will likely

> consider a muscle biopsy at that point, as well as any treatment

if

> she reccomends anything yet... If I want him to be in these

> therapies, I will need to request a referral from her, so I need

to

> make that decision ahead of time, and go from there...

> any advice would be awsome!

> thanks!

> Keely

>

> (sorry so long!)

[Guest guest]

Hi,

Just a quick note as I'm still on vacation. Welcome! And, therapies have helped my son so much. He went from not being able to crawl at 1 year old or walk or pull himself up to standing to looking "almsot" normal at age 3. I know it's b/c we worked so hard in physical therapy - he has some mild weakness now but other than that he's met motor milestones. We started p.t. at age 1 and, within a week of doing the exercises, he crawled about 12 inches for the first time! Made me cry.

I'm all for early therapies!

Anne R

[Guest guest]

Welcome to the group! Concerning the organic acid levels, this is

common in Mito and my daughters both deal with abnormal acid levels.

Concerning the speech, OT, physical therapy-I highly recommend doing it.

The curling of the toes and turning in of the feet is a muscle issue that

can be addressed and worked on in physical therapy. Occupational therapy

can work on any issues that your child may have in his arms/hands as well as

cognitively or sensorily. Speech also works on sensory issues, cognitive

issues, and speech/oral motor issues. The OT and Speech overlap some so the

therapists evalustion would let you know if he needs both or just one form.

My 4 year old has had speech for the past year due to regression from a

couple of strokes last July and I have seen great improvement with the

Speech therapist's help. At 2 you may have differing opinions as to the

necessity and potential of progress, but if you can get it, I recommend it.

Therapy can be somewhat scary to begin due to what it means to some people,

but I look it as a real blessing and I know Asenath and Zipporrah (9 months)

would be having more difficulty without having it.

Feel free to ask anything else you may want to know. And again,

welcome to the group!

Darla: mommy to: Asenath (4) Mito, CNS Vasculitis, strokes, migraines,

seizures, G-tube, hypotonicity, disautonomy,SID, dev. delays, asthma

Zipporrah (7 mon.) Mito, strokes, SID, G-tube, asthma, trach issues,

disautonomy, hypo & hypertonicity, migraines

>

>Reply-To: Mito

>To: Mito

>Subject: newbie w/20 month old son - need advice

>Date: Wed, 04 Aug 2004 00:22:29 -0000

>

>Well I wrote up a rediculously long intro late last week, but it

>appears to have been eaten by yahoo... and i really dont want to

>retype it... so... in a nutshell

>Im 22, my 20 month old son has possibly been diagnosed with a

>mitochondrial disorder (it is likely he inherited it from me, as i

>too have a long twisted and bizarre medical history thats never been

>explained).

>Anyways, my son:

>In Jan 2004 we had the first (rather dramatic) signs of trouble, he

>had an 'episode' where over a period of a week he went from a

>healthy happy, walking (running) toddler, to a very sick baby who

>could barely lift his head (started out as stumbling with his toes

>scrunched up and feet turning in, then he stopped walking, then

>eventually couldnt even sit up anymore... all along he had an angry

>red rash over his whole body, and started throwing up on day 3. he

>needed IV for 3 days just to stay hydrated). initially it was

>thought to be 'post viral cerebellitis' and he recovered quite

>quickly and was walking again within 2 weeks. he didnt however make

>a full recovery (he is still stumbly, and his feet still scrunch up

>and twist in sometimes), and was still not saying any words by 16

>months, so further testing was done.

>His ongoing issues are: (this is what led them to think of

>mitochondrial, along with my own issues which include kidney, heart,

>adrenal, and nerve damage, as well as autonomic failure, 'white

>spots' on my MRI, damage to my macula (eye), and the list goes on)

>

>-His MRI shows 'increased signal' in the deep white matter, as well

>as the globi pallidi (basal ganglia?).

>-His carnatine is low

>-His lactic acid is high

>-His urine organic acids was abnormal (?? anyone heard of this?)

>-His feet still 'scrunch up' (toes curled under), and turn in on

>occasion (causes him to stumble)

>-He gets frequent viral infections, and rashes that go along with

>them

>-He runs EXTREMELY high fevers for no apparent reason (last one was

>end of june i took him to the ER with a temp of 106.8) that run for

>a few days then go away.

>-He is FINALLY saying 2 words, so were very happy about that!

>-His hands tremble, especially when hes just waking up, we were told

>this is likely due to the involvement of the basal ganglia (?)

>however when hes concentrating on something, his fine motor control

>is extremely good (can put pegs into a crib board!).

>

>Im sure im forgetting stuff, but overall in spite of all that, he

>isnt HUGELY affected by any one problem... his balance is not great,

>but not terrible either... his talking is a concern (2 words at

>almost 2 years), but the fact that hes learning to talk now is

>reassuring...

>

>What im seeking advice on is this. He has been referred for speech

>therapy, however the waiting list (were in Canada) is about a year

>and a half minimum. If I wanted to, I could get him in earlier, im

>just not sure how necissary it is at this point. he hasnt been

>referred for anything else yet...

>Im curious about your experiences, and how you would reccomend I

>approach this. If I wanted, I could have him in Occupational,

>Physical and Speech therapy withing a couple months, however I not

>only have no clue what they are, I dont know how effective they are

>at his age... Given your experiences, do you think he would benefit

>from these things this early one? what exactly do they do at each

>different therapy, and what can they do at this age?

>We see the genetic metabolic/mito specialist in September,

>(hopefully earlier if theres a cancellation) and will likely

>consider a muscle biopsy at that point, as well as any treatment if

>she reccomends anything yet... If I want him to be in these

>therapies, I will need to request a referral from her, so I need to

>make that decision ahead of time, and go from there...

>any advice would be awsome!

>thanks!

>Keely

>

>(sorry so long!)

>

>

>

>

>

>Please contact mito-owner with any problems or questions.

>