Need help finding answers for my Baby Girl please. *adding some info*

[SweetPea05]

i am at this point desperate for answers, so if you read this please vote popular.

I have a 6 month old baby girl named Evelyn. She is so sick but the Dr's cant figure out why. I am grasping at straws here and thought I would list her problems and if anyone has any idea at all no matter how far fetched it might help me.

So she has breathing trouble, enlarged adenoids, basically sleep apnea

She is failure to thrive, has severe Hypotonia (low muscle tone)

She is missing all of her milestones- cant hold her head up can only roll side to side, cant put any weight on her legs cant sit even with support she just flops over.

She is very underweight-only between13-14 pounds has a hard time keeping weight. She isn't growing, her head is growing at a normal rate but her body isn't

She cannot poop on her own if she doesnt get mirialax she doesnt poop.

She IS very socially interactive, babbles coos and giggles

She has slightly dysmorphic features I'm told- coarse facial features, large protruding tongue, large forehead low posterior hairline flat bridge of her nose

We are seeing 8 different specialists and therapists about to go to a ninth. She has been sent to primary children's in salt lake (we are in Idaho) to see specialists there. None of the Dr's can figure out what is wrong with her, its getting scary and frustrating. All the tests they have done have come back normal or just slightly abnormal but not enough to give any answers! Its like I'm living an episode of mystery diagnosis or house... but without the end result! I don't know what to do for her she cant eat any solids she just chokes, she has days where she just wont eat, she just randomly stops breathing- she'll gasp choke not breathe for 3-4 seconds then start again. Its really scary and I don't know what to do anymore. So any answers and thoughts and Ideas anything would be helpful at this point. Please vote this popular we need as many people as possible to see it! This ordeal is taking a toll on our 2 year old our marriage and our finances... not to mention my poor baby girl just isn't getting the help she needs because no one can figure out whats wrong! Please please please help me if you have any idea even if its the most unlikely possibility please tell me. Thank You- Ashley

 

Ok after reading these replies (thank you so much ladies) I just thought I should add a few details

We see regularly-

A pediatrician

Developmental Ped

Ped GI

Physicaln therapist

Speech Pathologist

ENT dr

Metabolic/Geneticist

Neurologist

She has also had 2 mri's one of her brain and one of her spine- both normal.

Thank you so much ladies please please if anyone else has any ides at all let me know and if you could please vote this popular I truly need as many people as possible to see it Thank you for your thoughts and prayers

 

Some other things I forgot to add-

She had the cystic fibrosis sweat test it was normal

She has not had a muscle bipsy yet *apparently* they need to wait until she is bigger her muscles just arent big enough so we have an appointment march 1st to take care of that.

She has been seeing a geneticist he is also a metabolic specialist, he did a quantative metabolic screen,as well as extensive chromosome and genetic testing- all normal. I asked him if there is any chance she is just behind, and he says no, but unfortunately it could take years to figure out whats going on. Our church has done what it can for us financially.... but its been rough. We are making it but barely, we have to keep money saved to take her down to utah, Thankfully she is on medicaid, but there is a chance all of this wont be covered as Idaho is way cutting back its resources and we have to reapply because it is up in october. So keeping my fingers crossed that we can still get her medicaid or I dont know what we would do. We are a very religious family the only thing keeping me going is that God does not make mistakes and for some reason she was meant to come to us this way.

All I want is to get answers for her so I can give Evie the most fulfilled life possible. Thank you all for all your support it means so much to my family.

[Anyana]

Sep. 11, 2009 at 2:37 PM

This is far fetched, but here goes.  My niece has a son who had nearly the same problem.  I know that part of it was celiac disease and something else.  I am going to talk to her next week to find out what the entire diagnosis was.  Your daughter sounds exactly the same as her son though nearly.  I'll get back to you as soon as I know.  Hang in there.

[SweetPea05]

Sep. 11, 2009 at 3:48 PM

Oh there is something I forgot to add in there she has a milk protein allergy

(Original Poster)

[VBKL]

Sep. 11, 2009 at 4:06 PM

hey girl, I am soo sorry to hear things are still not being answered for you! THis really sucks and ithurts! I hope you guys fin some answers quick? Have they given you anything you can work with???

[Jodi_A]

Sep. 12, 2009 at 7:46 AM

My ex's new wife has a daughter who has food allergies from hell (allergice to SOO many things), and if I remember correctly from what the new wife told me, she had many of those same issues when she was a baby.  Took a long time to figure out all that she's allergic to, but she's now 10 and doing fantastic.  I don't know if your doctors have suggested that, but with your comment about milk protein allergies, I wonder if perhaps soy is on the allergy list also?

I'm so sad for you, I hope you find the doctor who can figure it out.  Good luck to all of you.

[mama4Christ361]

Sep. 12, 2009 at 9:21 AM

Check celiac disease. It sounds like that is exactly what it is. In the meantime, go to your natural food store and get powdered goat's milk. Heat a quart of water and stir in two tablespoons clear karo syrup. Also, stir in 2 mL's of Poly-vi-sol, available in the multiviatmin section in Wal-Mart. Add the powdered milk in the proportions directed on the can. This is goat's milk formula. Until you find out what is wrong with her, use it. It is hypoallergenic and if she does have celiac it will help a bunch. Plus the Karo will help her poo(get ready to change her clothes every poo for the first three days).

Good luck Dollface and I am so sorry for your worry.

[marjonmotel]

Sep. 12, 2009 at 9:42 AM

I was also thinking Celiac disease..Sounds like it to me..

[mamatware]

Sep. 12, 2009 at 9:47 AM

I have a son who is disabled.  He was 3 years old before we got his diagnosis.  It was a challenge and a very long hard process.  He is diagnosed with cerebral palsy, mild mental retardation and autistic tendencies, but it is beleive that it is somehow genetic even though they haven't been able to identify the specific error.  He was full term, uncomplicated pregnancy and delivery, no identifiable brain damage, or detectable neurological issues.  But clearly their is something neuro going on.  I know the last thing you want is more docs, but here are 3 you need on your team.

1.Ped neuro-big head could mean hydrocephalus, water on the brain, can lead to all types of delays and siezures  Because of that she is at higher risk for seizures anyway and it's good to have a neuro "on-call" just incase.  We had one for 3 years, just in case. 

2. Developmental Pediatrician-You still need a normal ped for everyday stuff like ear infections.  But this is a specialist that only sees kids with delays, and looks at the whole picture as a puzzle and tries to put the pieces from other docs together.

3. Genetics-their are new genetic disorders being found everyday.  Specifically I reccommend microray analysis. 

Also, you need to realize that you have one question-what's wrong with my baby????  You may not be looking for one answer, their may be several answers to the question-multiple diagnosis. 

[simplysarah77]

Sep. 12, 2009 at 9:53 AM

Prader-Willi Syndrome has a lot of those symtoms, have they tested for that?

[mamatware]

Sep. 12, 2009 at 9:54 AM

Other things you need to do if you haven't yet. 

1.  Google "Idaho early intervention program" this is a program for kids birth-3 years old, it is a federal/state program and more than likely you qualify for FREE or low cost services from this agency.

2.  Apply for SSI-D.  You can start the application online at www.ssa.gov you want to fill out the child disabilty report.  You want to have all doctor therapist info handy, the more info you give them the faster they will reach a decision.  Because you don't have an actual diagnosis yet, you may be denied, appeal it.  But if you do qualify, you may make too much to get an actual check. 

3.  If it is found that you do qualify for SSI-D, even if you don't get a check because you make too much-you need to go to the medicaid office next.  Many states have programs specifically for disabled children, and qualifying for SSI is an automatic medicaid qualification, but you still have to go fill out the paperwork for it. 

[mdmjam]

Sep. 12, 2009 at 10:21 AM

I cannot offer any help, because I have no clue.. BUT I wanted to let you know that I will keep you and her in my prayers!!!! Be strong and patient!!!  I pray you get the answers you need...