Introduction + child's Medical condition

[lizziewine]

Hello - am new to this forum - I have two special needs kids - one older girl 8yrs with Asperger's Syndrome and the younger boy 6yrs with Autism Spectrum - it's a full time job just helping these two in their daily lives and ensuring they are helped in the best way possible .... anyone can relate to this?
:wong19:

 

[Angelmum]

Hello - am new to this forum - I have two special needs kids - one older girl 8yrs with Asperger's Syndrome and the younger boy 6yrs with Autism Spectrum - it's a full time job just helping these two in their daily lives and ensuring they are helped in the best way possible .... anyone can relate to this?
:wong19:

Hi!

U r the main caregiver? It's really not easy to accept special needs child in the house n u hv 2! :elvis:

extracted from net "Asperger syndrome or Asperger's syndrome is an autism spectrum disorder, and people with it therefore show significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. Although not required for diagnosis, physical clumsiness and atypical use of language are frequently reported"

errmmm, well on the 'bright side'.... if yours are high-functioning autism; they could 'recover' and live normal lives.

Recover = you may not be able to cure an injury caused in a terrible car accident, you can recover; you can regain many skills that you once lost. In the case of autism, there are treatments that often bring about healing, so that the observable symptoms of the condition no longer exist. Even though we may no longer see any symptoms of autism, we can't say a child is "cured" because we do not know what they would have been like had they never been 'injured'.

Read a case on net, recovered thru gluten-free, casein-free diet, vitamin supplementation, detox of metals, and anti-fungals for yeast overgrowth that plagued his intestines. Once neurological function was recovered through these medical treatments, speech therapy and applied behavior analysis helped AS to quickly learn the skills he could not learn while he was frozen in autism.

In conclusion, yr kids hv hopes of recovering and be normal adults .... don't give up or get despair!

 

[Angelmum]

Seizure was trigger not due to fever. till now I cant gets what's trigger her, but just know that tireness is one of them. So have been keeping her life simple, as the result thrapist says she had not enough of explorersive to improve on her development.

today i seeking for a second opion from NUH... let's see what they have to says.

Hi!
No harm hearing from other experts, we all want our child to be better!

Just some encouragement, the reason I mentioned Infantile Spasm (severe seizure) is becos my gal had an ex-classmate diagnos with this since 3 mths old but made tremendous improvement. From what Drs said bedridden/totally dependent/no hope till now, able to walk and do lots more than my girl. She is now in MINDS, which means now belonged to a higher functioning grp.

 

[MaLee56]

Hi Angelmum
I am new to this forum. I am still reading through some of the treads here. My family is trying to cope both physically and mentally. As usual, there are bad news every day.

Let me share my case and I have some questions to ask mummies and daddies here.

My 2nd baby girl Grace was diagnosed with a rare metabolic disorder called Pyruvate dehydrogenase complex deficiency (PDCD). My elder girl is 4 years old and she is normal.
Grace has GDD. At 18months now, she is still unable to sit upright independently.
She is currently on PT,OT, Speech Therapy (she is aspirating silently through two rounds of VF screen over past 7 months).

Grace is the only case with PDCD at Kandang Kerbau Hospital. Anyone knows of any recorded cases at NUH?
Neurologists are recommending Ketogenic Diet. Anyone has experience with that? Is it hard to administer daily diets, medicine etc?

According to internet research, there are 500 cases in the world and the average mortality rate is 3 years. However we are not buying that statistics, as every child is different. And Grace has God's grace. she is strong.

 

[Angelmum]

Hi Angelmum
My 2nd baby girl Grace was diagnosed with a rare metabolic disorder called Pyruvate dehydrogenase complex deficiency (PDCD). My elder girl is 4 years old and she is normal.
Grace has GDD. At 18months now, she is still unable to sit upright independently.

Neurologists are recommending Ketogenic Diet. Anyone has experience with that? Is it hard to administer daily diets, medicine etc?

Hi!
Sorry to hear about yr case. Hope you could try to cope with the news and try yr best to help her.

Pyruvate dehydrogenase complex deficiency (PDHA) is one of the most common of the genetic disorders that cause abnormalities of mitochondrial metabolism. The mitochondria are the organelles inside cells that are reponsible for energy production and respiration at the cellular level.

According to web (click above green link), 'common' .... but KKH only had one case


Some individuals affected with PDHA experience increased muscle tone in both legs (spastic diplegia) or in all four limbs (spastic tetraplegia) similar to that seen in the classic case of cerebral palsy. Seizures occur in almost all individuals with PDHA. A seizure is the result of sudden abnormal electrical activity in the brain. This electrical activity can result in a wide variety of clinical symptoms including muscle twitches; tongue biting; fixed, staring eyes; a loss of bladder control resulting in involuntary urination; total body shaking (convulsions); and/or loss of consciousness.

Treatments may include early and continuing intervention programs for developmental delays and mental retardation, anti-convulsants to control seizures, muscle relaxants to control spasticity, and/or surgery to release the permanent muscle, tendon, and ligament tightening (contracture) at the joints that is characteristic of longer term spasticity.

A high fat diet .....Dietary supplements of thiamine, liproic acid and L-carnitine have also proven beneficial in some cases.

According to web .... 'high fat' .... no wonder u were recommended Ketogenic Diet. This is a really 'fat' diet and requires very accurate measurement. Food is awlful and yucky but for the sake of yr child, you might wanna try.


I hope this is helpful ....

 

[epicurean]

Hi MaLee56,

Welcome to the forum and I'm very sorry to hear about your girl's condition & challenges.

I don't know about recorded cases of PDCD at NUH but my son's initial diagnosis was in-born error of metabolism and we were advised to transfer him to PICU at NUH and see Dr Denise Goh & Dr Stacey Tay who deal with such cases. In the end, in-born error of metabolism was ruled out and his condition turned out to be brain damage due to suspected birth trauma.

Here are the 2 docs' CVs if you wish to know more about them & their areas of specialization:

http://www.nuh.com.sg/scripts/WebFormShowProfile.aspx?id=8822

http://www.nuh.com.sg/scripts/WebFormShowProfile.aspx?id=11600


Hope this is of some help.

 

[MaLee56]

Hi!
Sorry to hear about yr case. Hope you could try to cope with the news and try yr best to help her.

Pyruvate dehydrogenase complex deficiency (PDHA) is one of the most common of the genetic disorders that cause abnormalities of mitochondrial metabolism. The mitochondria are the organelles inside cells that are reponsible for energy production and respiration at the cellular level.

According to web (click above green link), 'common' .... but Kandang Kerbau Hospital only had one case


Some individuals affected with PDHA experience increased muscle tone in both legs (spastic diplegia) or in all four limbs (spastic tetraplegia) similar to that seen in the classic case of cerebral palsy. Seizures occur in almost all individuals with PDHA. A seizure is the result of sudden abnormal electrical activity in the brain. This electrical activity can result in a wide variety of clinical symptoms including muscle twitches; tongue biting; fixed, staring eyes; a loss of bladder control resulting in involuntary urination; total body shaking (convulsions); and/or loss of consciousness.

Treatments may include early and continuing intervention programs for developmental delays and mental retardation, anti-convulsants to control seizures, muscle relaxants to control spasticity, and/or surgery to release the permanent muscle, tendon, and ligament tightening (contracture) at the joints that is characteristic of longer term spasticity.

A high fat diet .....Dietary supplements of thiamine, liproic acid and L-carnitine have also proven beneficial in some cases.

According to web .... 'high fat' .... no wonder you were recommended Ketogenic Diet. This is a really 'fat' diet and requires very accurate measurement. Food is awlful and yucky but for the sake of yr child, you might wanna try.


I hope this is helpful ....

Am hesitant about starting ketogenic because it is hard to administer as I am a working mum and my helper is looking after two girls. also the initial start phase can be stressful and will set her back in her development. i see her enjoying her solids and will be a shame to start on ketogenic. anyway we cannot start now as she is aspirating. doctor says to do surgery to put in stub at tummy. oh no, no way we want her to do another surgery.

 

[MaLee56]

Hi MaLee56,

Welcome to the forum and I'm very sorry to hear about your girl's condition & challenges.

I dont't know about recorded cases of PDCD at NUH but my son's initial diagnosis was in-born error of metabolism and we were advised to transfer him to PICU at NUH and see Dr Denise Goh & Dr Stacey Tay who deal with such cases. In the end, in-born error of metabolism was ruled out and his condition turned out to be brain damage due to suspected birth trauma.

Here are the 2 docs' CVs if you wish to know more about them & their areas of specialization:

http://www.nuh.com.sg/scripts/WebFormShowProfile.aspx?id=8822

http://www.nuh.com.sg/scripts/WebFormShowProfile.aspx?id=11600


Hope this is of some help.

Thanks Epicurean. How do you find NUH so far?
I have heard about Dr Denise Goh. She is currently on maternity leave.

 

[epicurean]

Thanks Epicurean. How do you find NUH so far?
I have heard about Dr Denise Goh. She is currently on maternity leave.

Hi MaLee56,

Personally, my experience with NUH has been largely positive so far. With the exception of 2 docs (in the general ward & paed general medicine), I find the docs, nurses, support & admin staff to be compassionate, professional, driven & meticulous. Coz of my boy's multiple issues, we've encountered staff in PICU, children's general ward, Children's A&E, Clinic A (Children's Specialist Clinics), paed dentistry, Rehab Centre, MRI & x-ray dept, pharmacies, EEG unit, medical records dept, admission dept as well as the audiologist & dietician.

My impression of Dr Denise Goh is based on the fact that after the cause of my son's condition was established and his case no longer fell under her purview, she still continued to check on him in PICU and consulted with his team of docs. She would always come by his bed quietly & unobtrusively, check on him and leave just as quietly. I thought that was quite nice of her. Other feedback about her came from my former students who are currently medical students, interacting with her as their lecturer & tutor ... they find her inspiring, brilliant & humble.

 

[epicurean]

Am hesitant about starting ketogenic because it is hard to administer as I am a working mum and my helper is looking after two girls. also the initial start phase can be stressful and will set her back in her development. i see her enjoying her solids and will be a shame to start on ketogenic. anyway we cannot start now as she is aspirating. doctor says to do surgery to put in stub at tummy. oh no, no way we want her to do another surgery.

MaLee56,

My friend whose gal was on the ketogenic diet has these comments to share:

Background:
Her gal was placed on the diet when she was 8 months old to control her seizures. Was on the diet for a year plus. Her parents tried out the diet coz at that point in time, no med could really control her seizures.

She's currently off the diet coz my friend has started her on other types of food and it's difficult to maintain the ketogenic level.

Things to note:
1. Need to monitor closely during initial stage for the ketogenic level. She started by drinking only ketocal milk coz was on ng tube then.

2. By right, should be on the diet for 2-3 years.

3. If only taking milk, it's easy to maintain coz just need to take ketocal milk.

Negative aspects:
1. Very expensive diet, esp the ketocal milk powder (a 300gm can costs around $100 and her gal drank 6-8 cans a month).

2. Need regular blood tests & scans

3. Effectiveness varies from child to child. In her gal's case, it didn't really help in controlling her seizures.

4. In my friend's opinion, the diet is very hard to maintain - gotta do a lot of weighing & calculating the fat, carbo & protein contents coz the diet is basically high-fat with low or zero sugar.

5. When she started giving her gal porridge, she couldn't maintain the ketogenic level though her gal was still drinking the ketocal milk in between meals.

Hope this helps.

 

[NicholasMom]

Hi there everyone,
I am new to this forum and am so glad to have found it. I have an elder girl and twins born in Nov'09, my boy was born with a severe form of congenital neuropathy, whereby his nerves are not functioning at all and that has caused him to be unable to breathe on his own since birth nor swallow nor move any part of his body.

He is currently on a tracheostomy, ventilated on the LTV machine. On NG-tube feeding every 2hourly to curb is reflux, on physio to prevent his muscles from stiffening. He has had MRI scans done, muscle biopsy done (which show some form of congenital fibre-type disproportion), etc etc...

In short, there has been nor formal diagnosis and his prognosis is very very poor. Doctors have previously gave us a choice of removing his life support. which was something we cannot do and now, he is home with us, but requires close monitoring 24x7. We love him alot, but pains us every single min, second to see him suffer ... he requires 6hrly suctioning on good days, I've engaged 2 helpers to care for him while I had to go back to work because of $$$$.

Hope to get to know more parents here and strive on!!

 

[Angelmum]

In short, there has been nor formal diagnosis and his prognosis is very very poor. Doctors have previously gave us a choice of removing his life support. which was something we cannot do and now, he is home with us, but requires close monitoring 24x7. We love him alot, but pains us every single min, second to see him suffer ... he requires 6hrly suctioning on good days, I've engaged 2 helpers to care for him while I had to go back to work because of $$$$.

Hope to get to know more parents here and strive on!!

Hi!
Now he's home with life support machines? Dr said how long can he sustain?
Nerves not functioning so means he cant response to yr touch nor smile?

I believe the child is also painful since he had to rely of external help + living with tubes. I certainly don't have yr kind of courage and determination for the child to stay on.... :shyxxx:

How's yr elder child and the healthy twin? All 3 kids under the care of helpers? Yr parents/in-law staying with you to help monitor?

 

[MaLee56]

MaLee56,

My friend whose gal was on the ketogenic diet has these comments to share:

Background:
Her gal was placed on the diet when she was 8 months old to control her seizures. Was on the diet for a year plus. Her parents tried out the diet coz at that point in time, no med could really control her seizures.

She's currently off the diet coz my friend has started her on other types of food and it's difficult to maintain the ketogenic level.

Things to note:
1. Need to monitor closely during initial stage for the ketogenic level. She started by drinking only ketocal milk coz was on ng tube then.

2. By right, should be on the diet for 2-3 years.

3. If only taking milk, it's easy to maintain coz just need to take ketocal milk.

Negative aspects:
1. Very expensive diet, esp the ketocal milk powder (a 300gm can costs around $100 and her gal drank 6-8 cans a month).

2. Need regular blood tests & scans

3. Effectiveness varies from child to child. In her gal's case, it didn't really help in controlling her seizures.

4. In my friend's opinion, the diet is very hard to maintain - gotta do a lot of weighing & calculating the fat, carbo & protein contents coz the diet is basically high-fat with low or zero sugar.

5. When she started giving her gal porridge, she couldn't maintain the ketogenic level though her gal was still drinking the ketocal milk in between meals.

Hope this helps.

Thanks Epicurean for your info. I am so reluctant to start but after today's session, the neurologist again recommend us to start on Ketogenic diet as my girl may seem to progress now but may also recede anytime. headache... still thinking...

 

[GabyEn]

Dear Special Moms

Kudos to all of you! Know that you are all very special people & your special child/children is/are blessed to have parents like yourselves. Your trials & challenges are an inspirational to other parents. So heads up!

Am new to this forum. Mom to 3 boys and a girl. My 2nd boy has ASD, with speech delay. He's 14 this year. Was a working mom until 6 year ago when we left for an overseas posting with hubby. Am now back, is a SAHM and coping with kids' integration back in local school system, my ASD boy & a 2+ year old girl who is a bundle of energy.

Am looking to reading, hearing and sharing from other special moms to draw inspiration. Cause sometimes, when you are all caught up with daily routines and challenges, they tend to get pulled down very badly.

Blessings

 

[Angelmum]

Dear Special Moms

Am new to this forum. Mom to 3 boys and a girl. My 2nd boy has ASD, with speech delay. He's 14 this year. Was a working mom until 6 year ago when we left for an overseas posting with hubby. Am now back, is a stay at home mum and coping with kids' integration back in local school system, my ASD boy & a 2+ year old girl who is a bundle of energy.

Where was yr hubby posted? The special needs eduction and support were better there?

U got quite an age gap 14 yrs old and a 2 yrs old kid, I suppose the elder child is in teens?

 

[rae]

a late hi to many new mummies in this forum. glad to have you join us as it does get a lil lonely when we face the "normal" world.

to the new mummies, a short intro, my ger is a chromosome disorder, now in rainbow centre yishun PPMD. she has been tube fed all her life, NG tube till 4mths, where we did the PEG (button in stomach) for her. any mummy who would like to know more about this button feeding pls contact me at rynare@gmail.com. i personally feel tis is a lot better than forcing her to eat, as her refusal and her cleft palate makes her high risk to aspiration, and she put on a lot of weight and was a lot happier once she had the PEG done. i was told recently that the op is now very much simpler and laproscopy so very small wounds, and fast recovery.

do keep up your good work (so will i). even if nobody appreciates us, we know our child(ren) will cos we love them so much and they love us too!!

 

[KJ mummy]

a late hi to many new mummies in this forum. glad to have you join us as it does get a lil lonely when we face the "normal" world.

to the new mummies, a short intro, my ger is a chromosome disorder, now in rainbow centre yishun PPMD. she has been tube fed all her life, NG tube till 4mths, where we did the PEG (button in stomach) for her. any mummy who would like to know more about this button feeding pls contact me at rynare@gmail.com. i personally feel tis is a lot better than forcing her to eat, as her refusal and her cleft palate makes her high risk to aspiration, and she put on a lot of weight and was a lot happier once she had the PEG done. i was told recently that the op is now very much simpler and laproscopy so very small wounds, and fast recovery.

do keep up your good work (so will i). even if nobody appreciates us, we know our child(ren) will cos we love them so much and they love us too!!

Hi Rae,

My boy is on tube feeding since early this year when he was warded in hospital for bronchities. He was drinking from a bottle since birth and had been following up with the speech therapist at Kandang Kerbau Hospital until early this year when they did a VFS and showed that his swallowing is weak -at risk of aspiration. The ST immediately stopped us from bottle feeding and put him on NG tube since then. My hubby and I were heart broken when we have to tube feed him.

Recently, one of my boy's doctors suggested to us to consider the PEG. However, we are not ready to do so as I understand that it will be an irreversible thing once you start the PEG esp for children with CP. We feel that our boy's swallowing has gradually improved since we brought him to see Vasu and also we have been doing oral motor exercises for him everyday. We also have been feeding him a few teaspoon of soft puree everyday to stimulate his senses and we do see that he can swallow without any cough or fever afterthat. His drooling has also greatly reduced. The 2nd VFS done in May this year did show that his swallowing has improved from the 1st done early this year. I am also planning to try the Vitalstim therapy to further help my boy's swallowing.

Could you share with me more about this PEG as I want to have more knowledge about it?

Thanks.

Best regards,
KJ mummy

 

[GabyEn]

Where was yr hubby posted? The special needs eduction and support were better there?

you got quite an age gap 14 yrs old and a 2 yrs old kid, I suppose the elder child is in teens?

Hello to you too!

We're posted to Vietnam. There's no special needs support or education there. It was a struggle cause, home schooling is not easy. Guess, I was the problem, as I have to be very disciplined myself. So it was a tremendous learning curve for both my son & I.

Yes! My eldest is already 16. My little one is really a blessing from God!

 

[rae]

Could you share with me more about this PEG as I want to have more knowledge about it?

hey... sorrie for the late reply. think u are mistaken with PEG, it is definitely not irreversible. i have seen many kids go onto normal feeding when they have improved. it depends on the kid's improvement. the NG tube is the one tat will hinder his oral feeding as it may put him off cos of the discomfort of having the tube in his nose/mouth all the time, and the pain during insertion.

you can still oral feed him when he is on PEG, depending on his condition as aspiration is a "silent killer". i also tot my ger was doing well with oral feeds 6mths ago, till she developed a 1mth cough, and a dr mentioned it could be aspiration. i have now stopped oral feeds, juz stimulation by the speech therapist, as i see no point in putting her health on risk. with the PEG, you are ensured that your child will still get nutrients no matter what, which may in turn help with overall health as he gets stronger. like for my ger, she recovers from her ops very fast as we are able to feed her full feeds quickly and i feel tis is very important as thats all they get since they are not getting other source of nutrients.

what some people feel is that the child will be "lazy" to eat orally since they are fed constantly or the parent gets lazy since child is growing well. my feel is that i juz want to ensure my child gets her nutrients. if she can eventually learn to eat, good for us, if not, then it is ok. i am happy so long we stay away from the hospital!

if you would like to know more, like the difference of the different buttons, the care, or even a picture, you can email me at rynare@gmail.com

 

[quvette]

Hi all, I'm a new member here and i have a special needs 7months old boy (correct 5.5months now), Zav.

We noticed something is not right when he was about 3.5months but our concerns had always been dismissed and given the 'wait and see advice'. Just found out how 'special' he was 3 weeks ago. My husband and i are still grieving. Guess we have went thru the stage of denial, anger and is alternating between bargaining and depression now. Hope to lift ourselves out of these stages and move on to acceptance. Glad my hubby introduced me to this site where i could vent and hopefully find resources for us to move on to acceptance.

Zav stayed in ICU/SCN for a month before he comes back. Won't go into detail here else it will take the whole day for me to this msg.

Zav has silent GERD. Has been and currently on losec and domperidone since he's 2months plus. GERD has mostly stabilised in that he does not cry bloody murder for 15-18hrs/day. It's reduced to occasional fussing throughout the day. Other suspected diagnosis are CVI, ASD and mod-severe athethiod CP. These are our diagnosis as the paeds at KK are not wiling to put down a diagnosis on him. I dunno why but he severely need attention and is not getting any serious attention. Went to a private neurologist 3 wks ago who told us mod-severe cp and that he might never walk, write and do the usual things. No treatment plan, nothing offered but just told us to accept the reality. We are lost, confused and do not know what to expect. Met a development Paed from NUH CDU who adviced me to get a quick referral to her from polyclinic. Did that and the appt is next week.

Nobody can tell us what future holds for him or us. I guess no one can. Like to share his condition and hope to hear if anyone has similar experience to share.

Zav development so far:
Feeds well. Started solids last month. But we have to control his intake as he seems insatiable and he's almost 97% in weight.

Small head. About 5 percentile.

Able to hold his head up ard 5months.

Hates tummy time but can stay on tummy time with head up and support his upper body with his forearms for up to 10min each time now. (Was only able to manage about 1-2mins 2months ago). Does not push up on extended arms yet.

Does not roll, even from side to side.

Hates the sitting position as his hips and legs are very stiff. Will scream if you force him in that position. Tried to tripod him in a sitting position last week and he managed to sit unsupported for a minute if he does not move.

Stiff legs and hands. Fists are often clenched but do release when we touch his fingers. Stiff as a board during bath time but do not dislike bath.

Track objects occassionally if we move them in front of him. He starts tracking when he was almost 6months.

Does not look at faces. In fact he avoid eye contact. Started to notice ppl moving around him recently. His eyes are always roving but not sure if he interprets what he's seeing.

Does not recognise caregivers, not even parents. Does not even recognise milk bot.

Does not turn to sound though he pass hearing test.

Does not show excitement to toys or kids or anything.


Just like to know if anyone has almost similar experience? Would really like to know if he will be able to recognise us, regain some motor, cognitive and social skills in future.

Thank you.