RE: 3 month old baby showing similiar symptoms as sister with PDCD

[Guest guest]

I'm sorry to hear of the baby's recent illness. That is alot, on it's own, for a three month old. As far as your question goes I can only share our experience. At three months old, Grace was already rather sick. She was unable to tolerate breastmilk, and was on Neocate formula. She also had chronic dirreah. As far as muscle tone, and development she was totally normal. I believe at three months she was still in about the 75th percentile for height and weight, as she did not drop until she was a little older.

We had asked Dr. Cohen when and if we should test our new baby (he is 6 months old now.) Since his newborn screening was normal he said we should only test if he starts showing symptoms. I would think with your babies latest illness, the lactic acid levels (even though they may have been high because of the illness) and low muscle tone would be enough to warrant some further investigation. Since our baby is highly suspected of having Celiac Disease we are going to run some very preliminary bloodwork (Carnitine levels, probally a lactic acid) when we do his other bloodwork. We are waiting until he is a year to test for a specific diagnosis of Celiac Disease so the mito bloodwork is also being put on hold until then as well. We do not think has mito, but it is better to be safe I guess.

Best wishes

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[Guest guest]

Wow... I'm sorry to hear that your baby has been so sick! Our mito

child bascially had symptoms since birth. But her birth had been

difficult so we just assumed that was why she was always weak,

extremely sleepy, had feeding problems, and a bit delayed in the first

months. It wasn't until she was 3.5mos old where a dr noticed her low

muscle tone (had never heard that term til then and she had been seen

by NUMEROUS dr's prior to this appt) and the fact that her head was

growing faster then the rest of her body. (she had lost 1.5pounds

within the first week of birth, and didn't regain birthweight til 3mos

of age.)He ordered a CT and MRI which showed nothing, but it got the

ball rolling. In retrospect we realized she had had low tone since

birth, and a few small episodes that had been seizures... That's when

we were referred on to a Mayo ped neurologist.

Our newest baby is almost 4mos old and is showing no signs of mito.

She is very strong and extremely advanced for her age. I still watch

her for symptoms however

le and 2yo Lea, living with partial complex 1

and 6 other very healthy kiddos!

>

> Our 3 month old was in the hosptial for RSV, pneumonia, and

aspiration

> causing apnea earlier this week. While there they noticed some low

> muscle tone and elevated levels of lactic acid, but not sky rocket

> high, we are still waiting for her amino acids. She also has the

same

> physical traits our 2 1/2 year old has that has Pyruvate

Dehydrogenase

> Complex Deficiency. We don't remember how Ellie was at this age

> because she is a twin and her twin is soo strong, we always assumed

> , the healthy one, was just extreme that way, so we didn't

notice

> problems until 5 months when she started seizures and dystonia. Can

> any of you remember what your babies were like, or what you may have

> noticed in them at this age that indicated a mitochondrial disorder?

> Thank you,

> Rebeca L

[Guest guest]

My daughter had very early signs of mito (PHD) at 2-3 months. She

had a small head (microcephaly), was unable to hold her head up,

generalised low tone, had a divergent squint, was not smiling, and

was very irritable with gastric reflux.

She had pathology..showing raised lactate in blood and urine..her

head ct showed cerebral atrophy..we prepared for the worst..but

almost 10 years later..Gaby is still with us!!

ne

>

> Wow... I'm sorry to hear that your baby has been so sick! Our mito

> child bascially had symptoms since birth. But her birth had been

> difficult so we just assumed that was why she was always weak,

> extremely sleepy, had feeding problems, and a bit delayed in the

first

> months. It wasn't until she was 3.5mos old where a dr noticed her

low

> muscle tone (had never heard that term til then and she had been

seen

> by NUMEROUS dr's prior to this appt) and the fact that her head

was

> growing faster then the rest of her body. (she had lost 1.5pounds

> within the first week of birth, and didn't regain birthweight til

3mos

> of age.)He ordered a CT and MRI which showed nothing, but it got

the

> ball rolling. In retrospect we realized she had had low tone since

> birth, and a few small episodes that had been seizures... That's

when

> we were referred on to a Mayo ped neurologist.

>

> Our newest baby is almost 4mos old and is showing no signs of

mito.

> She is very strong and extremely advanced for her age. I still

watch

> her for symptoms however

>

> le and 2yo Lea, living with partial complex 1

> and 6 other very healthy kiddos!

[Guest guest]

With Asenath we didn't realize she had problems at three months

although we thought something just wasn't right about her. But with

Zipporrah we knew pretty much from the start. By three days of age we saw

temperature regulation problems, breathing problems, feeding problems, and

jaundice that got bad until past 6 weeks of age. By 2 months of age she had

pneumonia (probably aspiration related) and a stroke episode affecting her

left side quite a bit and again at 4 months she had another case of

pneumonia and stroke episode, this time affecting her right side. By three

months her feeding issues were rearing its ugly head badly and she was

constantly dehydrated with a sunken in fontanel and other signs. We sought

help both with the metabolic docs and local therapists. She started the

cocktail at three months and received a NG-tube at four months then a G-tube

at 6 months. Only in the past few months has she been able to eat orally

and she is 18 months old now. We saw a few seizures (we believe) although

she is not on any meds as they have been rare thankfully. We dealt with

lots of apnea and lots of reflux and sleep related issues including muscle

jerking and irregular heart rates and breathing problems leading to a

diagnosis of a tracheal ring and a tracheomalacia. Her muscle tone was

terrible until her G-tube was placed and since then it has improved quite a

bit. She also deals with lots of fatigue and neuro-motor planning issues

affecting how steadily she walks. She wears SMO leg braces to help her

walk. Many of her labs were/are abnormal as well, especially in the acids.

You will hear many different things our babies have experienced. Some

may be like your child and some may be totally different. Every Mito child

takes their own path. We still live with an unknown, thought to be Mito

diagnosis, but we sure do deal with many of the same symptoms as those here

on the group so we stick here. Hope this wasn't too long, too late in

answering, and helps you just a little.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org (a

photo look into Mito)

Darla: mommy to

Asenath (5) Probable Mito, CNS Vasculitis, strokes, migraines, seizures,

G-tube, hypotonicity, disautonomia, SID, global delays, cyclic vomiting,

bladder issues, some wheelchair use, eye issues, gastric emptying issues...

Zipporrah (18 months) Probable Mito, strokes, neuro-motor planning, SID,

GERD, dysphasia, G-tube fed, speech delays, extreme fatigue, aberrant

subclavian artery, disautonomia, hypertonicity, migraines, possible

seizures, dumping syndrome, iron deficiency...

Luke (17) migraines, sensory issues, & some evidence of SLE's...

Leah (14), Rachael (13), Isaac (11), Tirzah (8), Kezia (4), Marquis (3)

Joey (16 months) with hydrocephalus, dysgenesis of the corpus callosum,

encephalomalacia & leukomalacia, G-tube, GERD, immobile, severe dev. delays,

left hemiplegia (arm)...

(16 months) SID, dev. delays, right hemiparesis issues...

3 month old baby showing similiar symptoms as sister with

PDCD

>

>

> Our 3 month old was in the hosptial for RSV, pneumonia, and aspiration

> causing apnea earlier this week. While there they noticed some low

> muscle tone and elevated levels of lactic acid, but not sky rocket

> high, we are still waiting for her amino acids. She also has the same

> physical traits our 2 1/2 year old has that has Pyruvate Dehydrogenase

> Complex Deficiency. We don't remember how Ellie was at this age

> because she is a twin and her twin is soo strong, we always assumed

> , the healthy one, was just extreme that way, so we didn't notice

> problems until 5 months when she started seizures and dystonia. Can

> any of you remember what your babies were like, or what you may have

> noticed in them at this age that indicated a mitochondrial disorder?

> Thank you,

> Rebeca L

>

>

>

>

>

>

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

>