CHARGE Syndrom

[Guest guest]

hi Lucille. My son sam is now 13.5 months old has a trach and a g-tube,

hearing problems, blind in one eye, heart murmur, ea-tef that was repaired 4

hours after birth, reflux and more problems, it took us 3 months to get him

home from the hospital. We go to children's hospital in Seattle and are

followed in many different clinics, I feel very lucky about this because they

don't take anything for granted or say we will worry about that later. Sam had

hearing aids when he was 5 months old, tubes in his ears at six months, which

help with his hearing let alone ear infections.I could go on and on about how

they prioritize his care, I always say it's my favorite place to hate, I love

what they do for my son but also hate that he has to go through so much.So to

make a long story short there are good hospitals that know how to take care of

our charge kids, our hospital is now going to have care coordinators to help

parent that have children that are very involved, that way one person takes

charge and delegates and maybe the parents can get concrete answers on why

they don't do certain procedures immediately or why they wait to give the

child hearing aids eventhough it's been proven to improve language skills.

Hope you are able to find a competent Dr. that know how to manage a very

involved child. Good Luck

[Guest guest]

Hello everyone:

I have been reading your letters for about two months now and have learned a

lot, and still confused somewhat. I am trying to find as much information about

CHARGE as I can. My niece had a CHARGE baby in October. It is their first.

They have already performed 3-4 surgeries on this little guy. I am trying to

help them long distance. They live in Kansas City and I live outside of

Wichita, KS. He has been at Children's Mercy Hospital off and on since birth.

I have been totally disappointed with the information I have received about what

they have done to him. By the way, his name is Lance. There are not many

doctor's around here that know anything aobut this label that they are putting

on these children. Some of the doctor's in KC seem to think that they know

about it, but you could have fooled me. They have put a feeding tube in his

stomach. They ahve trached him. He has the one main artery on his heart that

sends oxygen to his lungs that is reversed and is like flipped over and going

the opposite way. They keep telling my niece that he will never see or hear,

but yet Lance is responding to noise and will follow objects put in front of

him. They have told them also that he has a lot of fluid behind his ears, but

they are not concerned at this point. The famous last words, " We are not

concerned at this point " . The doctors aren't wanting to go in and repair his

heart either until he is older. I am not a doctor, but it seems to me that they

should really be concerned about his heart if he is having trouble breathing!!

Sorry about rambling on, but I am so frustrated! Does any one know of any place

else that they can get some real help for this little guy? It seems tome that a

lot more should be getting done that isn't. I would think that time is of the

essence!

Lucille

Aunt ot Lance almost 4 months

[Guest guest]

Lucille,

I also am in the Wichita area! My son, Austin, is now 4 years old and has

Charge. He was born at Wesley and the neonatal doctors there took care of

him. My son has a g-tube, which unfortunately seems pretty run-of-the-mill

for Charge babies. The trach is less common, though. There are families on

this list who can address the trach better than me. It was discussed at one

time for my son, but he never ended up getting one. His lungs are much better

now, but when he gets sick he still needs oxygen.

About the hearing and vision. Those doctors sound like big time a**holes!

Excuse my language but that just infuriates me! Everyone used to say how

lucky we were that Austin could soothe himself by watching a toy and listening

to its music when he was a baby in the NICU. Then, right before he was able

to go home they did the vision and hearing tests and said, " Oh we are so

sorry, your son can't see and he can't hear! " Talk about a major punch to the

stomach! That was a nightmare. I can only imagine what Lance's parents are

going through.

It is true that most kids with Charge are considered 'deaf-blind' but that in

no way means that are without ALL vision and hearing. Please tell Lance's

parent's not to listen to the doctors at this point concerning vision and

hearing. If they can get a doc to monitor his colobomas, or other eye

anomalies, and a good ENT and Audiologist to suggest the best type of hearing

aids, that is probably what is most important. Also, since they are in the

Kansas City area, I know of some resources and people who can help to educate

the family of deaf-blind issues.

Probably the most important thing for Lance and his family is to get him

healthy. I would definitely push for second or third opinions on the heart

surgery and the other areas you mentioned. I have heard both good and bad

about Children's Mercy. They are supposed to be able to do things there for

the heart that Wichita can't do. Is the GI doc a Dr. Ross?? He used to be in

Wichita and consulted for Austin's g-tube.

Please send our thoughts and prayers to your family. Please e-mail me

privately and I will give any info. about the local area that I can.

Also, for the others on this list, just last week, I met a family from

Western Kansas with a baby girl (who was just adorable!) who was waiting for a

definite diagnosis of Charge. It was either Charge or VATER. From what I can

remember of VATER, it is really not a good description when you know about

Charge. What made me mad is that this baby is 6 months old, had the same

bleeping doctors that Austin had, had the same type of T.E. fistula, I mean

the whole works! Not to mention the fact that she and Austin looked so

similar! Anyway, the docs seemed to have totally forgotten that Austin was

such a medical mystery! I know that they see a lot of kids but I am not a

doctor and this was an OBVIOUS Charge baby!

I talked with the parents and was instantly transported back in time to that

scary, awful time. I will share info. about the list with them. They just

seemed so desperate to get a diagnosis and I could completely relate.

Sometimes it helps just to have a name to go with all of these issues!

Sorry to go on and on...just one of those days.

Welcome to Lance's family. I hope you learn a lot from the list. Please feel

free to contact me with any questions.

Sincerely,

Jacque Clifton

Austin's mom

Rose Hill, KS

[Guest guest]

Toby Colp wrote:

>

> From: toby.c@... (Toby Colp)

>

> bill matasker wrote:

> >

> >

> >

> > LSPUNK@... wrote:

> > >

> > > From: LSPUNK@...

> > >

> > > Hello everyone:

> > >

> > >

> > >

> > > Lucille

> > > Aunt ot Lance almost 4 months

> > >

> > > ------------------------------------------------------------------------

> >

> > Lucille,

> >

> > I went through a similar situation with my son who has CHARGE and was

> > born at a local hospital. They wanted to " try " , I felt that he was a

> > science experiment. I have been many places with my son, luckily I live

> > 30 miles from NYC, where we have some of the best doctors in the

> > country. However, they, as good as they were, came to a " stand still "

> > with him, so I took him out to Cincinatti Children's Hospital. These

> > doctors travel all around the world, helping people where needed. They

> > deal with kids who have multiple problems, and they were very familiar

> > with CHARGE. We got a whole other opinion on what was wrong with my

> > son, took the information back to Babies Hospital in NYC where they were

> > able to work with the doctors in Cincinatti and finally clear up my

> > son's problems. My son is now 21 mths old, and is doing well. He

> > fights off colds now like a " regular " kid and he is feeling well enough

> > that he is developing well (but still slower than a " normal " child). He

> > is g-tube fed and is growing nicely.

> >

> > When my son was born I was not given much hope, being told that he would

> > be deaf, blind and retarted. He has a moderate-severe hearing loss, but

> > with aides hears at a mild loss, and has excellent vision. He is also

> > age appropriate for language with motor skills being a bit behind (he

> > spent 4 mths in the hospital). He is very independent, right now we are

> > working hard on independent walking. He has had 11 surgeries and has a

> > great personalility and is a wonderful kid. It is a great deal of leg

> > work and traveling but it is worth it once all the problems are

> > identified, addressed and finally under control. No, the problems never

> > " go away " , but they become routine and maintainable. We take our son

> > everywhere now, and he loves to play with other kids and really just

> > wants to be a kid. Good luck to you, all this is way to vivid in my

> > memories as we went through all this the past year and a half.

> >

> > Just remember, there is help, lots of it. If you don't like what these

> > doctors are doing, get him out of there and bring him somewhere else.

> >

> > Debbie Matasker mom to 21 mths, 4

> >

> > ------------------------------------------------------------------------

> Debbie,

> We are having similar problems here, where no one really knows what

> to do with MacKenzies' GI problems and we've been led to believe that we

> would get the same verdicts everywhere. Is this Cinncinati Hospital

> really that good? Do you have any specific contact names for people that

> know alot about CHARGE?

>

> Jeanie Colp

> mom to MacKenzie 8mos.CHARgE, Tyler 7, & Zachary 4

> Nova Scotia, Canada

>

>

Jeanie,

Yes, they are really THAT good. We went specifically to see Dr. Cotten

who was able to perform a bronchoscopy on . They are " Airway

Experts " . Dr. Cotten pioneered the reconstruction of the trachea, his

group is phenomenal sp? We saw them also for something called a FEES

Study, where they were able to tell that was aspirating, and

what grade first hand, and how his epiglottis is functioning and how the

vocal cords were protecting the airway. They have done advanced

procedures on kids a 1000 times over where some hospitals elsewhere are

just getting started.

As for GI!!!! This was and does remain a huge issue for us. You see,

Babies Anesthesia dept. would not put out for the Bronchoscopy

and Endoscopy which he really needed to see what was going on. They

said it was too risky and that his breathing was too bad. But how do

you solve the breathing problem if you can't diagnose it? That is why

we ended up in Cincinnati. was a ROUTINE case for them. They

see much much worse. Dr. Cotten has decannulated kids that were told

would never be. Even though is not trached and will never have

to be, with Dr. Cotten there all this was made possible. We saw a Dr.

Rudolph for GI who performed the Endoscopy when Dr. Cotten was done with

the Bronchoscopy. They found his Nissen was not functioning and that he

had a huge whole in his diaphram, and his stomach was now up in his

chest. He desperately needed this fixed (he had it repaired last

August). Guess what? Breathing isn't a major issue anymore. Feeding

on the other hand still is (oral that is). One of their major concerns

was chronic lung disease from reflux and aspiration. Without their help

I don't think would remain as healthy as he has. His feeding

therapist can't believe we work on feeding but he is still holding his

own when it comes to respiratory illness etc., they are far and few

between.

Dr. Rudolph for GI is:

Dr. Cotten for ENT is: or 4355

Dr. Amin for Pulmonary is:

The wonderful thing about them is you can call and they will speak to

you over the phone as a consultation. I spoke with them many times

before actually going out there. They can guide you. Good luck. Oh,

and yes, they know all about CHARGE, they have seen hundreds of CHARGE

kids. Some go out there on a yearly basis for a " tune up " , we may

someday return as well.

Debbie Matasker mom to 21 mths, 4