Testing in the USA

[susan]

I'm getting frustrated again. My allergist is not following though... no matter how much I pursue.

So...I went to my PCP today to see if she would order the test. I got a lecture about Tolan"s laboratory being certified or not, who pays, and will her administration allow it.

WORSE...she could not even remember...after all these decades of seeing her.... any conversation we have had about HFI. I had to remind her.

Now she has to see if her administration will approve.

I feel like crying.

Susan, still living in Arkansas

[esmee]

If you are trying to get your insurance to pay for the test, I don't think you can go through Tolan's lab as he very explicitly states that they will not bill insurance. You might check out the lab at Baylor. If you don't care whether your insurance pays it or not, then any doctor should be willing to order the test. It sounds like your doctors are just being gate-keepers.

I am sorry that you are having such a difficult time being heard.

I just got my bill from Tolan's lab, but I haven't seen any results yet, lol...

[susan]

Thank you for your reply.
I told my doctor I would pay.
I don't care about insurance.
I just want it done.
I was so hoping to get in the same batch as you.

Thanks again. Susan

[HFI MOM]

Im not surprised, it took me 17 years for my kid and finally got to UCLA geneticts after referral to a gastroenterologist. There are about 6 genetic tests for Fructose problems, very expensive. Genetics Doc told me in about 4-6 yrs costs should come way down. Were tested for 1 waiting the 4-6 yrs for the others. Bottom line: some Healthy foods arent healthy for you. Honey, figs, raisins, grapes, apricots, r terrible, my kids cant do corn syrup or hfcs. No table sugar over 22 grams either. No brown sugar,molasses, or turbinado sugar. No brown rice syrup, invert sugar- basically if it has syrup its a no. Go outside PCP I had to for allergy test. Vaya con Dios

[susan]

ALAS....

Today, after providing more information to my PCP, the test was ordered, I was sent directly to the lab, and blood taken according to instructions.

It is heading to Boston in the morning.
What a relief ! Finally some action.

NOW..
HALLELUJAH CHORUS !

[charlie]

Thats great news Susan, we are waiting for Megs gene test results, blood sent off two weeks ago.......

One step closer.....

[susan]

Dr. Tolan confirmed my blood arrive at his lab. A matter of time now.

[sarosh]

I had also sent blood to Dr.Tolan and this is the result:

Dear Sarosh Mohiuddin,

We also finished the test last week. I tried to fax the results, but the line was no good. So, I have put the results of your test in the Air Mail to Dr. Shefali Verma at the Sagar Healthcare. This is the original. I have attached a copy of the results letter to this email. Your results were negative, on the face of it, but there may be an indication that another allele may be present. With your permission, we will check out that possibility sometime in the next couple of months.

Let me know if there are any questions.

Sincerely yours,

Dean Tolan

So, looks like I have some waiting to do.

[susan]

Here are my test results for all you HFI guru's. I think I understand the report but please give your interrpretations and understanding.

A149P +/-

A174D -/-

N334K -/-

^4E4 +/-

above is suppose to be a small triangle symbol, but I do not know how to make it with this program...followed by 4E4 +/-

Susan Walker
Arkansas

[susan]

Ah...come on....

Do I eat my "fructose free" hat, or not?

Don't the 2 positives mean I am positive for HFI?

[charlie]

Sorry, doesn't mean a thing to me, did they not send a translation with it, if not I should ring them or get your referring doctor to translate it.

[susan]

This is from Dr. Tolan. They gave a Key.

" A plus sign (+) indicates that a mutant (HFI causing ) allele is present at a given site. A minus
(-) indicates a normal allele.


It also states, "this will allow us to include these results in our population studies on HFI".

I guess I was wanting a statement like YES YOU ARE A FULL BLOWN HFI'er.

Is there a difference in symptoms if you have one (+) versus two?

I will call them also.

[susan]

Based on what another member has written, one must have two genes to have clear cut HFI, while a person with one gene is a carrier and may also have symptoms.


I DON'T HAVE TO EAT MY HAT, as I wagered if I did not have HFI.

I CONSIDER MYSELF CONFIRMED WITH HFI.

So you can add me to your confirmed list.

Susan.

[susan]

Dr. Tolan's words:

" Your genotype is what we call "compound heterozygous."



Here is what he said about family members getting tested:

"As long as you and anyone else in your family sign an approved Informed Consent Form for our research, we can do testing on anyone in your family. There is no charge now that you have been diagnosed with HFI. You just have to get the blood samples to me. I think a copy of the form was sent to either you or your Dr. Let me know if you have a copy."

[susan]

WOW ! Look what I got. Dr. Tolan must communicate with NORD straight away. This came yesterday, but I just saw it.

.............................................................................................

NORD is in the process of updating our rare disease reports. In the meantime, we are sending you information on the topic you requested from other trusted sources as an attachment.

We suggest that you consult the organizations listed below the links for more information on this topic.

We hope you will find this information helpful.

--
Christine Savino
Information Specialist
Medical Meeting Coordinator
Networking Coordinator
National Organization for Rare Disorders
55 Kenosia Avenue
Danbury, CT 06813-1968
Phone: [phone]
Fax: [phone]
www.rarediseases.org


Hereditary Fructose Intolerance

NORD is in the process of updating our rare disease reports. In the meantime, we are sending you information on the topic you requested from other trusted source.

We suggest that you consult the organizations listed below the links for more information on this topic.

We hope you will find this information helpful.

www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001399/

www.nlm.nih.gov/medlineplus/ency/article/000359.htm

ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance

rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6622

Organizations related to Hereditary Fructose Intolerance
• Genetic and Rare Diseases (GARD) Information Center
o PO Box 8126
o Gaithersburg, MD 20898-8126
o Phone #: [phone]
o 800 #: 888-205-2311
o e-mail: N/A
o Home page: rarediseases.info.nih.gov/GARD/
• MUMS National Parent-to-Parent Network
o 150 Custer Court
o Green Bay, WI 54301-1243 USA
o Phone #: [phone]
o 800 #: 877-336-5333
o e-mail: [e-mail]
o Home page: www.netnet.net/mums/



• NIH/National Institute of Diabetes, Digestive & Kidney Diseases
o Office of Communications & Public Liaison
o Bldg 31, Rm 9A06
o 31 Center Drive, MSC 2560
o Bethesda, MD 20892-2560
o Phone #: [phone]
o 800 #: --
o e-mail: [e-mail]
o Home page: www2.niddk.nih.gov/

[charlie]

Wow, thats impressive service and great you can now get other family members tested (if there are any - I can't remember your circumstances.

But basically they are saying - research it yourself!!! Maybe send them this link, they may well be aware of it but you never know. Good luck with your reading.

[susan]

My nephew has a child who is chronically ill. They may be interested. i will communicate with them.

Mom says it was sooooo scary when I was a baby and young child. But NO ONE ....and I mean no one....had a clue because no one, not even a doctor had a clue. Mom apologizes for giving it to me. But I let her know it was not her fault. It was just an odd odd statistic.

Here is one topic I want to make very clear.....I am not BITTER. But I will be truthful. I do grieve at times but do an excellent job of keeping a "stiff upper lip".

I grew up with much neglect, emotional and psychological abuse. My father was a sociopath. Mom meant well, but was foolish.

I no longer cover up, but tell the truth. I have overcome a life time of obstacles. I was also born with structural problems of the upper palate. I have had surgeries. Nevertheless, even with serious malnutrition, I have acquired higher education and work in social services to help kids and adults who have also had trauma.

I do not want to be called bitter. I have real, legitimate, true, honest.........residue from the past. I no long negate it, cover it up, deny it, repress it. I no longer minimize my experiences but neither do I exaggerate it.

If I grieve for the loss of babies....so be it. I must go through it. Gout like symptoms are also associated with HFI (Inflammation). Inflammation is associated with blastocyst implantation failure. I do grieve. I did... and do want... my husband's child.

Yes we have adopted and have helped a child/children.

Back to my family. I am reaching out to extended family. I am virtually alone other than my husband's side of the family.

My brother took my father's path. However, his is wife may have concerns for her grandchildren.

I have emailed the genealogical websites dedicated to branches of my family line.

Hey.....are there any Filby or Mummert individuals reading this board?

I did email a Mummert line of cousins with whom I try to maintain contact. They also have some Italian genes. Some Italians carry HFI.


Has anyone ever done a study on the Book of Job? His friends seemed like friends yet they are often criticized for their lack of true compassion and empathy. At least we can give compassion to each other.

[Tammy]

Hi Susan. It sounds as though you are working through all your ills. Good for you. Even though you are eating your hat, maybe this will actually give you a little more peace. You can now put a name on it, and also while looking back, it may also make some things make sense. Kind of like an "Aha, Now I see!" moment.

I certainly would pass the word along to the parents of the sick child. You never know, you could be saving that child and helping to give him an easier life.

And as you know, we're always here to gripe to.