Re: our genetic counseling

[Guest guest]

Thx, will be waiting.

Hairston

Re: our genetic counseling

> From: Goldenfam4@...

>

> I will be happy to email with 's story--I will attempt to do

this

> later today or Monday. It has been a tough few weeks with

Hospitalizations,

> Hurricane evacuations and now my Mother-in-law------How much is one person

> supose to take?

> But I will make this a priority----as I always do when it comes to my

mito

> family

>

> and Complex II-III

>

> > Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Thx, will be waiting.

Hairston

Re: our genetic counseling

> From: Goldenfam4@...

>

> I will be happy to email with 's story--I will attempt to do

this

> later today or Monday. It has been a tough few weeks with

Hospitalizations,

> Hurricane evacuations and now my Mother-in-law------How much is one person

> supose to take?

> But I will make this a priority----as I always do when it comes to my

mito

> family

>

> and Complex II-III

>

> > Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Hairston,

I finally have a few minutes to bring you up to date on . He just

turned 1 year on Thursday!

Where do I begin to make this long story as short and concise as possible?

LOL! Well I guess the beginning is the right place---It all began at an

Ultrasound appt I had at 21 weeks pregnant. I was being followed by high

rsik docs because of asthma and high bld pressure. They also followed me for

my previous pregnancy with who will be 3 Oct 10. I had 3 miscarriages

in the past and both my term pregnancies with and Drew were IVF or

test tube---so they considered me extra high risk. I had an US at 21 weeks

that revealed a stop in 's growth, he hadn't grown any in 3 weeks time.

I was put on strict bedrest with supplemental oxygen to help O2 cross the

placenta. I had an Amnio which revealed elevated alpha-fetal protein ( even

though the bld test was negative) but all other testable genetic tests were

normal. I continued to be monitored weekly and was induced at 34 weeks due

to a lack in IUGR or fetal growth restriction. I had an emergency C-section

due to crod prolapse and fetal distress. had apgars of 4 and 6 and

was rushed off to NICU. He stayed there for almost 10 weeks. He never

suffered the " usual " preemie problems but he did get have double inguinal

hernia repair and was on the vent for 10 days fighting a septic gut

infection. He didn't have a neural tueb defect but he does have a sacral

dimple that is quite deep. He also had a 2 vessel umbical cord ( should have

been 3 vessels ) and an auricular ear tag outside his ear.

We took him home at 10 weeks and I continued to pump and attempt to

breastfeed. He never gained weight appropriately in the hosp and he lost at

home even with supplemental formula feeds. He NEVER woke hungry so we had to

set an alarm every 4 hrs to feed him. We then began the doctor bingo ( as my

husband loves to call it). Specialist after specialist----all agreeing he had

" Something wrong " but they didn't know what. We saw Ped Pul for the rapid

resps of 100-130 per min----Gi for FTT poor feeding and formula intolerance (

he is still on neocate)---ped intensivist for daily care---genetisist for

workups that all were inconclusive but suggestive of a metabolic

disease----ped cardio for resp and heart rate---ped neuro for possible

seizures and dev delay-----------etc etc.. I am sure you all know the story

as well as I do.

Finally after our Ped threatening to send us out of state to a speciality

hosp ( I am in Fl but come from NY as does our Ped) the GI docs finally said

yes I guess we have to do something. They admitted him for FTT and refusal to

eat ( he still takes NOTHING by mouth-except for maybe a sip of h2o evry few

days). They placed a NG and NJ tube which he pulled put repeatedly and had a

latex reaction to. They did a PH probe that showed significance

reflux-------hence the G-tube and the Nissen. We have been able to have him

gain slowly with the g-tube but it is still a battle. He wretches back more

than I gavage down due to such poor motility and he seems to catch every

sniffle in a mile radius .

Dr Cohen from Cleveland Clinic evaluated him in Aug and preformed a fresh

muscle biopsy. a MRS and had the ENT place tubes in his ears to get rid of

the ear infection that was 3 months old and going. He confirmed a Complex

II-III deficiency with mito proliferation of the tissue. We are currently

awaiting the TTFA ---assay back from Dr Hoppel. has elevated lactic

acid in his brain tissue as seen on MRS and we are considering getting him

into the DCA trial here in FL but for right now we are taking a breather and

trying to digest it all.

Good Luck to you and your family, and Complex II-III

[Guest guest]

Geez, you are having a go of it. Please let us know how the trial goes if

you decide to jump in. We are saving stamina for a trial participation for

C3 for Kennedy should one ever come along. If you hear of one, please

scream. You bring the meds and I'll bring the pizza.

Take care -

Hairston

Kennedy's Dad

Re: our genetic counseling

> From: Goldenfam4@...

>

> Hairston,

>

> I finally have a few minutes to bring you up to date on . He just

> turned 1 year on Thursday!

>

> Where do I begin to make this long story as short and concise as possible?

> LOL! Well I guess the beginning is the right place---It all began at an

> Ultrasound appt I had at 21 weeks pregnant. I was being followed by high

> rsik docs because of asthma and high bld pressure. They also followed me

for

> my previous pregnancy with who will be 3 Oct 10. I had 3

miscarriages

> in the past and both my term pregnancies with and Drew were IVF or

> test tube---so they considered me extra high risk. I had an US at 21

weeks

> that revealed a stop in 's growth, he hadn't grown any in 3 weeks

time.

> I was put on strict bedrest with supplemental oxygen to help O2 cross the

> placenta. I had an Amnio which revealed elevated alpha-fetal protein

even

> though the bld test was negative) but all other testable genetic tests

were

> normal. I continued to be monitored weekly and was induced at 34 weeks

due

> to a lack in IUGR or fetal growth restriction. I had an emergency

C-section

> due to crod prolapse and fetal distress. had apgars of 4 and 6 and

> was rushed off to NICU. He stayed there for almost 10 weeks. He never

> suffered the " usual " preemie problems but he did get have double inguinal

> hernia repair and was on the vent for 10 days fighting a septic gut

> infection. He didn't have a neural tueb defect but he does have a sacral

> dimple that is quite deep. He also had a 2 vessel umbical cord ( should

have

> been 3 vessels ) and an auricular ear tag outside his ear.

>

> We took him home at 10 weeks and I continued to pump and attempt to

> breastfeed. He never gained weight appropriately in the hosp and he lost

at

> home even with supplemental formula feeds. He NEVER woke hungry so we had

to

> set an alarm every 4 hrs to feed him. We then began the doctor bingo ( as

my

> husband loves to call it). Specialist after specialist----all agreeing he

had

> " Something wrong " but they didn't know what. We saw Ped Pul for the rapid

> resps of 100-130 per min----Gi for FTT poor feeding and formula

intolerance

> he is still on neocate)---ped intensivist for daily care---genetisist for

> workups that all were inconclusive but suggestive of a metabolic

> disease----ped cardio for resp and heart rate---ped neuro for possible

> seizures and dev delay-----------etc etc.. I am sure you all know the

story

> as well as I do.

>

> Finally after our Ped threatening to send us out of state to a speciality

> hosp ( I am in Fl but come from NY as does our Ped) the GI docs finally

said

> yes I guess we have to do something. They admitted him for FTT and refusal

to

> eat ( he still takes NOTHING by mouth-except for maybe a sip of h2o evry

few

> days). They placed a NG and NJ tube which he pulled put repeatedly and had

a

> latex reaction to. They did a PH probe that showed significance

> reflux-------hence the G-tube and the Nissen. We have been able to have

him

> gain slowly with the g-tube but it is still a battle. He wretches back

more

> than I gavage down due to such poor motility and he seems to catch every

> sniffle in a mile radius .

>

> Dr Cohen from Cleveland Clinic evaluated him in Aug and preformed a fresh

> muscle biopsy. a MRS and had the ENT place tubes in his ears to get rid of

> the ear infection that was 3 months old and going. He confirmed a Complex

> II-III deficiency with mito proliferation of the tissue. We are currently

> awaiting the TTFA ---assay back from Dr Hoppel. has elevated

lactic

> acid in his brain tissue as seen on MRS and we are considering getting him

> into the DCA trial here in FL but for right now we are taking a breather

and

> trying to digest it all.

>

>

> Good Luck to you and your family, and Complex II-III

>

> > Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>