Help! I need a diagnosis-

[bluewriter]

Hi, I'm new here. My daughter is 8 years old. She has always had a lot of respiratory infections and has had severe allergies and ezcema since birth. For the last four years, she has had a horrible daily cough with worsening times up to 12 times a year that takes us directly to doctor or ER. I live in Arkansas and have medicaid for her and medical care in this state is beyond bad. She had a sweat chloride test after I did research and insisted on it that had a result of 60. From what I've read and asked specialists outside of the state, that is positive. Here, they say it's borderline. They did a 46 mutation panel on her which came back negative. They refused to do the gene sequencing and they don't have a way to do the nasal potential difference test in this state. Her chest xrays are abnormal with bilateral hilar adenopathy and bilateral bronchial thickening. Her bloodwork is abnormal for some immunological markers and her RAST said she's allergic to literally everything. They are done testing her for CF. They believe they've ruled it out. Her CT scan shows-Arkansas says nothing-specialists outside of AR that I mailed it to says bronchiectasis. She's still sick and they aren't treating her. They now want to evaluate her for Interstitial Lung Disease and frankly, I question their competence to evaluate for anything with the treatment we've gotten so far. Should I take her to Mayo Clinic and go bankrupt? On top of everything, thanks to Arkansas treatment, she has SEVERE medical procedure phobia. Any help is greatly appreciated. Oh, and they said she has moderate clubbing on her fingers. I'm worried about my baby.

 

[Printer]

WOW!! Everything that you say points strongly to CF. Can you manage to relocate to another state? If you stay in Arkansas and she is dx with CF, you will be faced with those very high costs. If I were you, my first order of business would be to formulate a plan to move soon.

Bill

 

[2005CFmom]

What doctors are saying no CF? This is the listing from cff.org for a CF center in Arkansas...
Arkansas Children's Hospital (PEDIATRIC)
Little Rock, AR 72202
Appointments: (501) 364-4000
Director(s): John L. Carroll, M.D., Gulnur Com, M.D.
If you haven't been to these doctors yet, you need to get there. If these are the doctors, God help you, you would probably need to move out of state. Good Luck!

 

[bluewriter]

thanks

What doctors are saying no CF? This is the listing from cff.org for a CF center in Arkansas...
Arkansas Children's Hospital (PEDIATRIC)
Little Rock, AR 72202
Appointments: (501) 364-4000
Director(s): John L. Carroll, M.D., Gulnur Com, M.D.
If you haven't been to these doctors yet, you need to get there. If these are the doctors, God help you, you would probably need to move out of state. Good Luck!

thank you to both of you for responding. I thought it seems like CF too. I emailed the head CF and Johns Hopkins and she said CF has not been ruled out and so far is positive in her. Arkansas Childrens Hospital pediatric pulmonology-seen two head docs there and yes, God help us, They are the ones I'm talking about in a negative way. And they put on her chart-CF has been ruled out. Thanks again and keep the comments coming.

 

[bluewriter]

I forgot to also mention that she has had pansinusitis for years also. I feel trapped in a prison of bad health care for my daughter. I want to move and maybe we'll have to but I'm disabled and my husband lost his job and all our family is here and my daughter has severe post traumatic stress disorder and hate to have to move here but I still want to move for the better health care. I just don't know how we will or where we'll live. Mayo says we have to give them 5000 dollars up front or we can't get past the front door. I can put it on a credit card but I don't have that kind of money obviously. They said we don't qualify for financial assistance because her doctor says she can get care here-at Arkansas Childrens-where she isn't getting proper care. *Sigh. Taking recommendations on places to move.

 

[2005CFmom]

I don't know if they will help, but there is a legal hotline that helps CFers with insurance and other issues. The lawyers name is Beth Sufian and here is the info.:

To contact the hotline, call ​

(800) 622-0385

or send an e-mail to ​

CFLegal@cff.org[FONT=Arial, Helvetica, sans-serif]

Maybe explain that you can't get a CF diagnosis or even further testing although the sweat test came back at 60. Maybe they would let you know how to fight the system to get the full gene sequencing done.

If that fails contact Ambrey Genetics (sorry don't have that info, but you should be able to google them) and find out how much the Full Sequencing genetic test would be. You would still need to have a doctor order it, but maybe you could get a doctor to order it if you were paying for it. Anyway, I know that it is expensive but would be less than the $5000, and that may give you the information you need.[/FONT]

 

[bluewriter]

Thank you 2005CFmom. Where did you child get diagnosed if you don't mind me asking?

 

[2005CFmom]

We are in California. She was diagnosed by Kaiser in Los Angeles.

 

[albino15]

I would visit a CF center in a neighboring state. You don't have to move. Maybe try Tennessee, according to the CF Foundation there is a CF center in Memphis. Of course it depends on where in Arkansas you live.

​

 

[JustDucky]

I am with albino, see if you can go to a neighboring state, I just feel horrible for you guys...just because a center is CFF accredited doesn't mean amazing care. I know how hard it is to just up and move, it costs money to relocate and if you are on a fixed income, there is very little wiggle room. I pray that your daughter gets the help and treatment that she deserves. If it turns out that she has CF, then she will finally get the treatment that she deserves. Even if it isn't (some immunological disorders can cause chronic infections and bronchiectasis), she should be on some type of clearance for her airways (vest, chest physio etc). Keeping all of you in my thoughts

Jenn 40 wCF

 

[bluewriter]

I agree with all of you. She does need some type of treatment. It's awful she hasn't gotten any here. At Arkansas Childrens, they said they could hear crackling in her lungs and her lab work and xrays were abnormal and her cough was horrible and they wouldn't give her any medication or anything at all. They just sent her home. I'm sick of it. And with her medical phobia, it's so hard to get even a little blood work. So traumatizing. And they've just wasted it all there. I want to take her to the best. I wish I could take her to John Hopkins. I don't want to go somewhere else and spend money I don't have and put her through more just for it to not work again. The next time has to be it. It has to get a diagnosis so it needs to be the best. I sent her records to Texas Childrens in Houston. They said she needs to go to National Jewish in Denver. I called them. They said they don't usually see children and she needs to go to a childrens hospital. Everyone keeps passing the buck. Once we get a diagnosis, then we can try and figure out where to and how to move. On top of it all, she has PTSD from being raped when she was five. How unlucky can one little girl be?? Thank you all for trying to help. I appreciate all of you.

 

[Beccamom]

Have you looked into clinical trials? I used to think clinical trials were just for treatment, but I learned this past year that there are clinical trials regarding testing as well. There is a mucus clearance consortium which consists of a group of hospitals that have money to focus research on mucus clearance diseases that include CF as well as other mucus clearance diseases (ex. Denver Children's and University of North Carolina, and the National Institute of Health). The clinical trial is free to the patient, but I am not sure about travel expenses.

I took my daughter out of state for a clinical trial for testing and now she gets the treatment that she needs. In the process she remains without a diagnosis, but her PFTs improved from 55% to 100% with CF treatment and I found out I have CF from genetic testing followed by sweat test confirmation.

 

[bluewriter]

I have looked into clinical trials but haven't found one yet that will take someone without a confirmed diagnosis. If you have a link to one, please share and I'd be excited to read it. Thank you. I have wondered whether I have CF myself but my doc here is just as bad as hers. I have completely disabling digestive issues. I can't eat anything and keep it in me and I've had pancreatitis four times and bile duct surgery and gallbladder removed and stint put in pancreas and breathing issues too. But right now, I just want care for her. They can test me to help her-I don't care. I just want care for her.

 

[Beccamom]

For a clinical trial option we went through the diagnosing Primary Ciliary Dyskinesia (another mucus clearance disorder) clinical trial to get to UNC and then the PCD testing was negative, but this doctor agreed that mucus clearance treatment was necessary. With treatment my daughter is doing great. This led me to get tested for CF since each of my girls carry 1 CF mutation. I found out I gave each child one mutation and so I have CF. In the end I just wanted to get my daughter to a hospital in the Mucus Clearance Consortium. Unfortunately I just looked at clinicaltrials.gov and this trial is active not recrutting as of Oct 24, 2012.

 

[bluewriter]

Thank you. Let me know if you hear of any others. There was one for bronchiectasis. I need to try and call them cause they never called me back. But the doctor won't put bronchiectasis on her chart. They've messed up her chart and won't correct it.

 

[Ratatosk]

IMO at the very least until you can get a diagnosis, I would push for treatment of the symptoms, ask for cultures to see if she's culturing CF bugs.

A colleague of mine's daughter was diagnosed with "interstitial lung disease" 16 years ago. She had failure to thrive, clubbing of the fingers by age 5, "asthma", cultured staph... Local doctors ruled out CF because of a sweat test, at the time I don't believe they had genetic testing.

 

[bluewriter]

Thank you for your comments and advice. I can't get treatment here so I've got an appt at Mayo in Rochester next mon on the 12th. I can't afford it and the travel will be extremely difficult with my disabilities but it's the only place that we can get an appt so far and something needs to be done soon. I need to know which way to go and who to trust. I hope and pray they'll tell me.

Ratatosk-what does IMO mean? thanks

 

[Ratatosk]

In my opinion.

BTW, Mayo clinic doesn't have an accreditted CF program; however, they DO have one. I know of a couple people who go there. If you're THAT close to Minneapolis, you should try to looking into U of MN.

 

[bluewriter]

I don't know what to do. With no money, being disabled, and no insurance to speak of-it is extremely hard to get an appt anywhere. I would love to go to National Jewish or Johns Hopkins and I've spoken with them but I don't have an appt there. I have one at Mayo. But I only get one shot at this. One visit to a major medical center is going to wipe me out financially for life. I don't want to pick the wrong one. I'm scared and worrried. I want the best care for my daughter. I want the truth. I want a diagnosis. So far, CF centers won't even let me in because she doesn't have a CF diagnosis. Johns Hopkins by email is the only one who believes me and sees that there is a good probability she has CF BUT I need a doctor to diagnosis her and write it down for all the other stupid doctors to believe. I need a miracle. And I need to know where to go to get it.

 

[nmw0615]

Try and get in touch with the CF team at the Children's Hospital in Aurora, Colorado. If you can speak with Frank Accurso, Ruth DeVoogd, or Scott Sagel you should be in great hands. Out of all the places I have received treatment, these doctors were my favorite.