In Need of Emotional and Mental Support Right Now

[blange3]

Erna,

Cindy and I will keep the whole family in our prayers. As both of our children spent the first days and in our daughters case, weeks in the NICU, we have had a small taste of what your family is going through.

You have a built in support network that I am sure will be of great help, but we are here if you need us.

Peace and many blessings.

 

[mikem]

Erna here is the link http://groups.yahoo.com/group/raregeneticdisorders/; I think Mike is confused with the two younger girls and their diagnosis. That group might be able to help you locate your specific disorder. I also have been going to Morgan Stanley Children's Hospital of New York - Presbyterian for Karissa (who is the liver transplant)-- before the transplant she was involved in a "clinical trial" from Europe with dietitians and special diet restrictions. Here is the social workers number (212) 305-9507 Stephanie Borer. I would give her a call. I hope some of this helps. Our prayers and wishes are with you and your family. Donna

 

[momof6kids]

We received some good news about Madison. Andy and Linda went to the hospital last Friday for a scheduled visit to discuss ongoing management for Madison and receive her results from last week's blood test. This was the first blood test that would check her leucine levels (these may be elevated by her condition) and we're very happy to report they came back normal. This means that her current diet and frequency of eating is working. If the blood levels change we'll have to adjust her diet accordingly. She also had a physical and is doing just great. The doctors said they couldn't have asked for a better report.

Next Steps
For the next 2 months they'll take her in every two weeks for blood tests to check her levels. If things continue to look good the frequency will change to monthly tests, then every three months, then every six months through childhood. Thankfully Madison has good veins and hasn't been too upset during the blood tests (they draw from her arm).

Linda can keep nursing and they won't supplement with formula as long as Madison continues to gain weight and her blood levels are good. She'll start eating rice cereal around five months and that is when they'll want to keep a close eye on her levels again. Her baby foods will have more fats and proteins than she currently gets from mom.

In the next few weeks they'll get a glucometer to start testing her blood glucose at home in the morning to see if we can extend her sleeping to 5-6 hour intervals. The doctors won't want her going past 6 hours the first year though.

We also found a support group based out of MN that has been extremely helpful to Andy and Linda.

We are so very thankful to all of you for the many prayers and helpful comments that we have received.

Erna

 

[blange3]

Great news!

They prayers will continue.

I have a LOT of experience with glucose meters if you need some help with that. ;D

 

[Phyl]

That is GREAT news! Continued prayers for Madison to have a VERY minor case. I'm glad you've found a support network that is giving them comfort and insight.

Home made baby foods are easy to do and ensure that you know EXACTLY what they're getting. Sounds cumbersome, but it really isn't. I highly recommend looking into it (even though it is obviously way early).

 

[JRWOHLER]

I am sorry I didn't see this when it was first posted.
What a cute baby first.
Very sorry for the heartache you and your family must be feeling.
It sounds like you have had great news, like Phyl said baby foods are not that hard to make.
Sounds strange but avocado is a great baby food. Even us dopey dads can make it.
Keep us up to date and our thoughts and prayers will be with you.

 

[GregW]

Erna,
You might want to look into getting one of these continuous glucose monitors. I've been thinking about getting one for myself but they're not covered by most insurance policies yet but they might make exceptions for infants.

http://www.dexcom.com/

 

[BobCReef]

Great news . I'm so happy for you and the family. We will continue to pray for Madison. She is a beautiful little girl

 

[Phyl]

I love avacado as a first food too, but of course that would be on her nix list since it is so full of (wonderful healthy) fats. Maybe she can have some fats and others, but I'm guessing right now that all fats will be limited. Bananas, apples, pears, and the veggies are easy fixins too though!

 

[momof6kids]

Homemade baby foods will definitely be the way to go so we can be assured of exactly what is in the food. The doctors say they will probably stick with breast milk exclusively until she is about 5 months and then will very slowly add food in. They have warned us that is when she will begin to show symptoms of the condition.

 

[momof6kids]

Christmas with Maddie. Very fun indeed!!

 

[malulu]

merry x'mas and happy new year!

 

[AnDom1]

Hi Erna...I'm late to this posting, but want you to know that beautiful Maddie and your family are in our prayers as well.

With Our Best Wishes To You All For A Happy and Healthy New Year!!!

Dom And Marie

 

[momof6kids]

Please say a prayer for Maddie tonight. She was totally fine yesterday, and this morning was very lethargic and non-responsive. After bloodwork the doctors say she is fighting some kind of infection, and it put her into a crisis mode. She is at the hospital on IV's. If she will start eating normally they will allow her to go home tomorrow, if not she will stay longer.
Erna

 

[Phyl]

She's so cute, Erna. You have our prayers. We'll miss you guys tomorrow.

 

[debfife]

Oh No! She's in my thoughts. Sounds exactly what we went through in November with Genevieve. Hang in there.

 

[poconofishy]

Hi Erna,

I'm sorry I missed this when it was first posted. I'm sorry for your surprising news. But the very good news is it was caught early and this can make a HUGE difference. I'm sorry she is having a crisis right now, but know this is not unusual for kids with such metabolic conditions to have them and they typically just temporary bumps in the road. Scary at first, but usually very manageable. I'm a genetic counselor, which means I have a Master's degree in this specific area and have spent quite a bit of time studying all sorts of rare genetic disorders. If you have any questions please do no hesitate to contact me: mlemech@ptd.net or 570-842-4957. I will help you as best as you can. My advice to you is to find the physician who is most knowledgeable with this disorder and pay him/her a visit. You will get the best care, service and information this way, because this condition is something most physicians have never heard of and even a geneticist may not be familiar with, so go to the doctor who has the most knowledge about it. It will be well worth it.

The support group that MikeM referred you too is excellent. Hook up with them. They will help you. Here is another organization you might find helpful: http://www.geneticalliance.org/

Here is a poem that we often share with people in your families situation. I hope you find it comforting. http://www.our-kids.org/Archives/Holland.html

Your family is in my thoughts,

Michelle Lemech MSGC RN


WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

 

[Phyl]

Wow. My cousin had this posted on his website and (duh) I thought he wrote it. I've read that over and over and just love what it says. That goes for SOOO much in this life.

 

[debfife]

Michelle has the perfect poem for everything!

 

[momof6kids]

Thank you for your support. Andy called with an update. They are surmising right now (waiting for the final test results), that she has a UTI and this caused her to not eat well yesterday, (or to need more to eat than she did). So, this morning her body didn't have enough energy and started feeding off her muscle tissue. We normally would eat off of the fat we have stored. Maddie's condition doesn't allow her to store fat. When it feeds off of the muscle it turns it into toxins which put her into the crisis mode. She is on IV's and has to eat more often than before (every 4 1/2 hours). This is supposed to flush the toxins out of her system.

Michelle, Thank you for your words of wisdom. If you know of any doctors in the area that are know about this I would love to have their names. They were given two doctors names when they found out about this. The one they are going to in New Brunswick and the other one was in Philadelphia. They felt Pa was too far to be running to every time you needed your doctor. But, this doctors bedside manner is lacking. When Linda called this morning it took 45 minutes for her to call back and the first thing she said was, "Well, if you look back over your notes, I told you this would start showing when she was between 3 and 4 months." Not what a new mother needed at the time.