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In Need of Emotional and Mental Support Right Now

M

momof6kids

NJRC Member
During Madison's newborn blood screening at Overlook hospital she tested positive for a rare metabolic disorder called "HMG Lyase Deficiency". In order to confirm the diagnosis she received a second test at their pediatrician. Then they went to the Institute of Genetic Medicine at St. Peter's Hospital where a final blood and urine test confirmed the condition. We are still going through testing to see just how severely she will be affected. We have also been told that this is the first
reported case in NJ, with fewer than 100 cases reported worldwide.

The disorder results in the body having a limited ability to convert fats and
proteins into energy. More than a few hours without food can lead to severely low levels of glucose in her blood (hypoglycemia), and buildup of toxins as the body starts to break muscles down for energy. If this occurs Madison would have to go to the hospital immediately for Iv fluids or she could slip into a coma. Ongoing treatment is almost entirely dietary (lots of carbohydrates), and has had varying effectiveness from person to person.

A more detailed description can be found here:
www.health.gov.on.ca/english/providers/program/child/screening/pdf/fs_hmg.pdf

Please pray for our family at this time. This has been a real blow to Andy & Linda. They had 7 miscarriages prior to having Maddie. We are just taking one day at a time and are thankful that this was discovered so early on. They didn't used to test for this in NJ, just started in the last 5 years.

Some grandparents can say their grandchildren are one in a million. We can literally say Maddie is one in about 9 million (the number of people currently living in NJ).

Thanks,
Erna
 
Phyl

Phyl

Officer Emeritus
Officer Emeritus
Erna, Madison is in our thoughts and prayers. What a frightening thing to go through. Thankfully they've identified it early and it can be controlled with diet (as hard as that can be with toddlers). I just read through the page you linked. It looks like she can be asymptomatic, even though she has it? Is that possible with her exact condition? If so maybe it won't be as terrible and frightening as it sounds.

Friends of ours have a boy who has diabetes and they keep skittles, raisins and juice with them at all times. They took frequent blood sugar tests when he was a toddler (even through the night). I wonder if they treat this like diabetes with blood glucose tests to ensure that the blood sugar stays in line?

My cousin's daughter was born with half a heart. They have undergone many surgeries to repair it (with more to come as she grows). They said something that struck me as really profound when they got over the initial shock. They said that it was like planning a vacation to Grand Cayman and when you get off the plain you're in Alaska. Not that Alaska is the worst place to be, it just isn't what you're expecting. They've learned to live with being in Alaska.

Your daughter will become a pro at managing this and while this isn't the destination they had in mind, they will learn what they need to do to keep her well. {{{hugs}}} to you all!
 
B

BobCReef

Erna, my heart goes out to you. I can only imagine how you and your family are feeling. I know each time we had kids and now each time our kids have kids I pray that the baby will be a healthy normal baby. Terry and i will be praying for your family and Madison fervently. Please keep us posted.
 
mikem

mikem

Officer Emeritus
Officer Emeritus
Erna.Our prayers and thoughts are with you always.
My 9 year old daughter has a similar rare genetic disorder called tyrosemenia(sp?) I know how Linda and Andy feel.
It took a year for all the special hospitals to find out what our problem was. We went thru hell every day for that first year trying to find out the problem. Finally a Dr. in Canada was studying Rare disorders and wanted us to go there for testing.Yous are lucky to find out earlier.
To make a long story short, she had a liver transplant because the year wait affected all that stuff that has to do with the proteins. She's a normal healthy girl now with the exception that she is on Meds. for life because of the transplant.
What helped us get thru the hard times, my wife joined a forum for Rare Genetic Disorders. She talked to the other 100 people in the world with rare disorders. I'll post the link when I find it.
If theres anything we can do to help, don't hesitate to ask.
Again, my prayers are with you.
 
B

Brian

Officer Emeritus
Officer Emeritus
So sorry to hear this Erna, hopefully everything works out for the best. Our thoughts and prayers are with you.
 
C

chessmanmark

Thanks for the link. My daughter is three and she has been having a lot of fevers. FIrst they tested for Lyme's, and then they discovered her glucose level was 44. The Internet can be a curse or a blessing. I looked up low glucose and came up with a number of 54. She keeps complaining her leg hurts. We scheduled another blood test for last thursday and they wouldn't give it to her because she had another fever and wasn't eating.

It's terribly frustrating as a parent to experience a sick child. It's hard enough when you know what's wrong, but wondering if the diagnosis is correct can be difficult as well.

I wish you the best. Be strong.
 
malulu

malulu

NJRC Member
Erna,

very sorry to hear that...

Please hang on and give it great hope, always think positive - it will come out with good result!

a Dr Lawrence Ettinger, MD in St. Peter hospital is a top gun on the medical field, not sure if this is related to his area, you may want to check with him, may be he can recommended some other top gun doctors for you.

best wish to your family.
 
Hawkeye

Hawkeye

really sorry to hear about this. At the very least we will pray for Maddie - but also that you + family will be given strength in this time of uncertainty.
 
magic

magic

Officer Emeritus
Officer Emeritus
Erna, Your family is in my thoughts and prayers! Hang in there.

Bob
 
redfishbluefish

redfishbluefish

Officer Emeritus
Officer Emeritus
First off Erna, our prayers are with you and your family.

I cannot stress this enough that the mom and dad, and maybe grandparents, need to join some support group. As a father, of a now 26 year old, who was born with a “little abnormality,” this was our saving grace. Hearing other people’s stories, and realizing that you are not alone, is what got use through that first year of doctors and specialists. You eventually realize that it actually isn’t that bad, as well as now knowing that you have a support group to go to for answers to all those nagging questions.

It never goes away, it just gets a hell of a lot better as you learn more!

God bless.
 
M

momof6kids

NJRC Member
Thanks guys, as I have read through each of your replies, I am so thankful for your support. Phyl, I really liked your analogy. We are going to learn to live in Alaska.
;)

We should hopefully find out more on Wednesday. They drew 3 tubes of blood and sent them to Mayo Clinic, to hopefully find out how severe she has this. Though, the doctors at St. Peters are being very honest with us and tell us they are in uncharted waters here. So, there will be lots of blood work for a long time. She is going to a cardiologist on Friday because enlarged hearts are also typical over time for this problem, so they want a baseline. And Phyl, you are right about the blood glucose tests to ensure that the blood sugar stays in line.

Mike, I would love to get that support group link from you. I found this one, but, there wasn't any people with HMG Lyase deficiency listed on it. Other enzyme deficiencies but not that one. Is this the one you were thinking of or is it a different one?

http://www.inspire.com/groups/organic-acidemia-association/

Again, thanks guys. Here is a picture of our littlest angel. She is now one month old and is just back to her birth weight.

239_07_12_08_9_30_54.jpg
 
Phyl

Phyl

Officer Emeritus
Officer Emeritus
She's sooo beautiful. She has such a smile and peace about her. Hang in there!
 
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