Rare Chromosome Deletion

• By StacyM
• Posted July 10, 2008 at 7:10 pm

Hi....I don't have any answers for you, but I wanted to let you know I've been in your shoes. Your little boy is so beautiful! My own son was in the NICU for over 2 months with a very rare disease called Levy-Yeboa Syndrome (at the time the doctors didn't know what it was). Unfortunately, my little boy passed away when he was two due to complications of the disease. I don't know why God chose to take him, but my husband and I are better people because of him...he touched so many lives in his short life. You have done nothing to deserve this....don't blame yourself. Your little boy is so blessed to have such a caring mom. My sons disease was recessive meaning my husband and I both have a defective gene we didn't know about and they formed the disease when they got together. I experienced all the same emotions you are probably going throught right now....anger, sadness, and a feeling that you can't believe that this is happening to you. I just wanted to let you know I'm thinking and praying for your little boy. You never know what the future holds and I will pray that Gage will get stronger everyday and lead a looong life! You have to have hope and trust in God (I know how easy it is to say that and how hard it is to do when it comes to your child). Well, I'm sorry I don't have any answers to his medical problems but I just wanted to give you hope...also my little one had a g-tube too so let me know if you have any questions....Hugs....Stacy

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• By ericwife4life
• Posted July 10, 2008 at 8:05 pm

Thank you for such words of kindness. I am sorry that your son was taken away from you, but I am amazed at your strength and thankful for your kind words. It's nice to be able to talk to someone who has been down this road or on the same path as you are. It's hard and what's even harder is to explain to people every single day what's happening with Gage or how we are going to deal with it. Everyone sympathizes and say they understand but they don't. No one does unless they walk in your shoes.

If you don't mind me asking, how long ago was it that your son passed? How did you deal with it or did you just know? Have you had more children since? My sister had a baby that passed away from hypoplastic left heart at a week of age and she said she just knew it was time.

Gage had three ultrasounds today. One of his lungs, one of his kidneys and one of his liver. They are trying to figure out what they saw in his kidney an infection or clot, etc and trying to find out if he has a blood clot in his liver. I want my son to live and thrive but when do you say enough is enough? I know I am not at that point yet and I want a miracle so badly. I am so in love with him and I want to be greedy and keep him here with me.

Thank you so much for responding to me. I do have a question about what you did for clothing with the g-tube. Right now Gage is on continous feeds and they don't allow him to wear clothing but hopefully one day he will be able to. I look forward to talking to you again. And most notably, Thank You.

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• By rzrbckgrl
• Posted July 11, 2008 at 2:31 am

I don't have any answers for you either but I do want to tell you that God loves your little Gage more than any of us could EVER imagine. He loves you just the same. My 2 year old daughter, Abigail, passed away in May from a very rare disease called Syndromic Diarrhea. No one knew what she had the whole time. So I really know how you feel just looking for answers. That's what I did for 2 years! I found her diagnosis online the week before she passed away. I am here if you need to talk. Abby had a g-tube and a central venous line (CVL) her whole life. If you have any questions, just ask.
I will say that you don't know what the future holds. Abigail touched so many people. She changed so many hearts in her short time here and now she is safe in the arms of Our Lord! She is healed forever! Just please remember that God has a purpose and a plan for everything! Our minds are not made to comprehend it and I do not want to sound insensitive in any way. I just want you to know how much God loves you and your family!
In Christ- Sara

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• By StacyM
• Posted July 11, 2008 at 6:16 pm

I don't mind you asking at all...Spencer passed away 3 years ago. I can't even put into words how painful it was....we loved him more than anything. We actually lived at the hospital while he was there - the PICU doctors were nice enough to let us stay in a room on the floor because I couldn't stand to be away from him. I have more strength now but after he passed away I became so angry at God....I eventually passed through that phase and now I am so grateful to God that he gave me 2 1/2 years with him.....You never really know when enough is enough...I never gave up on Spencer until the very end...he had to be put on a ventilator a couple of months before he died and it got to the point where the vent was turned all the way up and it still wasn't enough to oxygenate him. You never know....miracles do happen and Spencer had many miracles happen in his life while he was here...when he was born the doctors didn't think he'd make it through the first week!

It is sooo hard for people to understand....I remember I got so tired of people giving me advice because they had no idea what medical problems we were having to deal with....its amazing how your life actually stops when your child is sick - I got to the point where I didn't even know the date or day because it was so irrelevant compared to Spencer.

Keep on praying and just love him everyday....about his g-tube....When Spencer was an infant I would just make sure he had snaps around his leg area when he was in 1 piece outfits....when he got older I just put him in shorts and t-shirts....believe me you will get to be a pro at the g-tube....its really not bad at all and Spencer used to even spin his to play with it!! Talk to you soon...Stacy

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• By StacyM
• Posted July 11, 2008 at 6:29 pm

I forgot to answer your question about having more children...no we have not. We are too afraid - I just can't go thru that pain again and the doctors believe Spencers disease was recessive so we have a 25% chance of it happening again...if it was a 2% chance I would consider it...but I just can't with 25% even though I would love to have more children.

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• By StacyM
• Posted July 11, 2008 at 6:36 pm

In response to rzrbckgrl....I love your pic of your little girl..how cute! I'm sorry to hear of her passing...when I read your post it reminded me of Spencer...the disease he passed away from was Levy-Yeboa syndrome and its main characteristic is secretory diarrhea. He also had to have TPN's a few months before he passed away and they could barely keep up with his output of diarrhea...can I ask you what other symptoms your daughter had? One of the characteristics of LYS is blisters on the hands and feet at birth (possibly from some sort of inflammatory process??? Doctors aren't sure) - did your daughter have any unusual symptoms beside the diarrhea? I also am the one that found Spencers diagnoses but nothing could be done by that time anyway because he passed away from respiratory failure which was brought on by sepsis.

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• By rzrbckgrl
• Posted July 11, 2008 at 9:47 pm

Well she was born with VERY unusual hair. It was very brittle and it would just break off when you touched it. She started with the secretory diarrhea at about 2 weeks of age. She wasn't gaining weight, they call it failure to thrive. Her immune system was defected also. They just kept saying it was B and T cells. She also had an enlarged liver. As far as the facial features, I didn't realize that she had the protruding forehead and cheekbones until I saw pictures of the children with Syndromic Diarrrhea, then I knew! Because they looked just like her. They always said her main diagnosis was secretory diarrhea but they never knew why. She also died from respiratory failure because of sepsis and they never did diagnose her with it but I KNOW that is what she had. She was put on the ventilator 6 weeks before she passed. It was aweful! She had overcome so many infections...serious infections! But this time, she would get better for a few days and then get another infection. She actually was supposed to be extubated 4 different times and EVERY time, the morning of, she would spike a fever! The doctors finally had THE TALK with us and we knew we had to let her go. It was not fair to keep her that way. Of course, they had her on tons of pain medicine and sedation medicine but she had to be miserable! For 6 whole weeks, laying in that same bed on her back. It was terrible. I have to keep reminding myself that we did the right thing. The way I do that is I think about every time she would grimace and shake her head at us. I didn't even see her eyes again once she went in that time because she was so swollen. I miss her SO bad but I know it would not have been right for us to make her keep fighting. We did not take her off of life support but we let her go when she decided to. It was aweful.
I haven't looked up the syndrome your son had but I plan to. Abby does have a website that I created before she passed and I still keep it up. It is at www.carepages.com and her carepage name is AbbyGrace2007
It's nice to talk with someone who gets it. Thanks

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• By StacyM
• Posted July 15, 2008 at 7:36 pm

My story is very similar to yours. Spencer was on the ventilator for about 10-11 weeks before he passed away. The doctors put a trach in after he had been on the vent for about 2 weeks. It was awful. He didn't have anything unusual with his hair...his unusual feature was of course the blisters at birth, but his main diagnosis was secretory diarrhea. I just wish doctors could find a way to stop this disease...I would love to have more children but can't bare to even think about risking it. Also, to ericwife4life....I hope Gage is doing better. Something else I thought of was that I used to cut a small hole in Spencers onsies so the g-tube would fit through it (I would do that at night b/c he was on continuous feeds then). Well, I'll talk to you all later....its great to connect with 2 people who knows what it feels like to go through this. Stacy

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• By NORD-RN
• Posted July 16, 2008 at 11:52 am

Hello,

I am so sorry that you are going through such an ordeal with your baby.

There is a very good patient resource organization called Chromosome Deletion Outreach, Inc--
http://www.chromodisorder.org -- (561) 395-4252. Their website is filled with information which you may find helpful, and they also have support groups in which you can participate.

In addition, NORD has a genetics counselor,
Marsha Lanes, who would be most willing to discuss your son's condition with you. Marsha is a wonderful resource for anyone with questions about genetic conditions. Please feel free to email her if you wish-- genetic_counselor@rarediseases.org.

We wish you the best of luck with your precious baby.

Sincerely,

Stefanie Putkowski, RN

NORD

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• By sbowling
• Posted July 22, 2008 at 1:23 pm

My son was born in January 2008 with a rare chromosomal disorder that we were not aware of until after he was born. He has a 2q deletion. He was in the hospital for 2 months after he was born and had surgery for the g-tube and the nissen. The feelings that you have are completley normal. I used to have the same questions until a lady who was in the RCNIC with me said that GOD knew I could handle my son's condition. She said special kids are given to special people. Just any person off the street could not care for my son. If you want someone who has been through this before you can contact me any time. If you want my phone number you can email me and I will give it to you. Good Luck.

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