Monday, July 6, 2009

Ethan and Jarcho Levin Syndrome

Jarcho Levin Syndrome is a condition that most people have never heard of. In fact there are very few doctors who have ever heard of or come in contact with it. It is so rare in fact that when Ethan was born he was counted as one in twenty in the world with this condition. Most who were born with this syndrome do not live to be very old. The condition presents complications in various systems in the body such as the respiratory system, the digestive system the bone and most prominent is the bone structure in the body cavity.



Ethan was born the third child to my son and the fifth grandchild to me. He is now 5-1/2 years old. He is such a precious and very loving child. I wouldn't take anything in this world for my time spent this weekend with this amazing child. He loves to play darts and has a real dart board that scores for him. He is amazingly good. I enjoyed playing darts with him and he won.



Before Ethan was born the doctors had already realized that he was going to be born with some health issues. It was thought at one point that he was a Down Syndrome baby but the doctors still were not sure about all of Ethans problems. Jarcho Levin Syndrome actually affects the same chromosome as in Down Syndrome. When Ethan was born the doctors immediately placed him in the neo-natal intensive care unit.



This was the beginning of Ethans fight. He was immediately placed on oxygen. After a few days Ethan was not keeping any formula down. The digestive system was affected and a feeding tube was placed. When x-rays were taken of his body cavity - it looked like a bowl of broken pretzels. The spine was zig-zag like an "s" shape and the ribs were all contorted and some nubs where a rib was suppose to be. The doctors didn't even have a diagnosis yet. All they seemed to be able to do was research and try to keep Ethan stable.



Ethan ended up spending most of his first year at the University of South Alabama Womens and Childrens hospital. This is a special needs hospital for children and women. By the time Ethan was a year old they had a diagnosis and he had already experienced 6 operations. My son - Jimmy had done a lot of research on his condition and learned what to tell the nurses and doctors to do for him until he finally saw a doctor who had specialized in this particular syndrome. Jimmy found the only doctor in the world who specialized in Ethans condition and that was in San Antonio Texas. By the time Ethan was two they had moved to San Antonio.



The prognosis was that Ethan would undergo rib surgeries where they would insert titanium in his spine and attach to the ribs. This has to be done in order for him to be able to allow his lungs and other organs to grow. He had his first of these operations in October of last year. He grew 3 inches on the operating table. Staph set in and everything had to be removed a week later. He lost the growth and is now waiting on some weight gain in order to proceed with more rib implants. Ethan is still on tube feeding and is amazingly well adjusted to his special needs. What I don't understand is how can he gain extra weight when he doesn't eat. You can't just fill him up on the liquids/solid that he receives through the tube feeding.



I want to share some photos from my weekend with Ethan.



He is a ham for the camera. The hair - well they like it - so I say it's like Samson - maybe he gets his strength from his hair. He has been through more already than most of us will experience in a lifetime. Actually he had had shunts place in his head and screams worse about getting his haircut than seeing the doctors. His scalp is extremely sensitive.



Saturday the 4th was extremely hot. In Marrero Louisiana where they recently moved - the air was stagnate with 100 degree readings. Not a leaf was blowing. Ethan wanted to take a dip. He still wears a diaper. The potting training has not been picked up again since the last surgery. Everytime he has surgery it sets him back on speech and the potting training and they don't press the issue either. There are too many other more important things to consider.


If you enlarge the any of the photos you will be able to see the bones protruding. Here you can see the right breast bone and on the left side was his last surgery. Ethan is about the size of a small 4 year old. The hips are at an angle - this was corrected in the last surgery but was undone due to the infection.

Max - the new black lab likes the water too. Ethan screamed just as I snapped this - he is scared to death of a dog jumping on him. By the way I took Buddy with me and he was the perfect dog to Ethan. Never jumped up on him and layed so still for Ethan to pet him. Progress there.


This is the side where you can see the large scars on his back down the side and also right at the hip.
Please excuse us - you know little ones sometime swim naked when no-one can see them - and there was complete privacy.




Me and Jimmy.


Jimmy and Becky. Yep he married a girl with the same name as mom.


I am a proud mom and grandmother.
Happy Monday to all my fellow bloggers and hope all had a nice holiday.

33 comments:

April said...

Thanks for sharing this mom.

gardenerprogress/Catherine said...

He sounds like a very special boy with a wonderful family! My nephew has a chromosome deletion and has had many surgeries too. It has affected his speech and motor skills. He just turned 10 and is doing all sorts of things the doctors never thought were possible, like running and going to school. I know from watching my sister and brother in law just how hard life can be, but also how hugely rewarding it is too. My nephew has made all of us better people by being in our lives, just as I'm sure Ethan has done for all of you! I will definitely keep Ethan and your family in my prayers that he can gain the weight needed to have his surgery.
He is a doll and I like his hair :)

Kim and Victoria said...

Wow. Ethan makes us all feel humble. What a great little guy. He's so lucky to have great parents and a great, great, Grandma!

A Brit in Tennessee said...

Wow, what a cute little boy, and so courageous.
I miss having a little one around, mine are grown, and almost grown ;(
I will say a prayer for Ethan, that God protect him and make him strong.

Dirt Princess said...

Jimmy looks JUST like you!!!! I never realized that! Ethan is amazing! I cried while reading this, and yes you do see the "realness" of it, when he has on only a diaper. He is a beautiful child, gorgeous brown locks and blue eyes! My mom always says, God only gives you, what you can handle. Ethan, Jimmy & Becky are amazing.

Debbie's Garden said...

Poor thing, all those surgeries on someone so little. I would think he'd at least like hair maybe 2" long. Combing tangles out of long hair is a SCREAMER for little kids. Especially with an extra sensitive scalp.

BeautifulWreck said...

He is absolutely beautiful. Love his long hair!
Thanks for sharing your grandson's story with all of us. We have family friends who have a child with a very rare chromosomal disorder and other congenital abnormalities. He has defied all the odds and continues to bless all of us who know him. I am going to pass this post on to his parents.

Betsy from Tennessee said...

What a special little guy, Becca. I know that your entire family are proud of him and all that he has achieved in his young life. That was great that your son could move his family to San Antonio.

Thanks so much for sharing about Ethan. I will keep him and your family in my prayers.
Hugs,
Betsy

Far Side of Fifty said...

Hi Becca, What a trooper Ethan is! And you too, it can't be easy, it is hard to see anyone struggle..especially children. Kudo's to your son Jimmy, what a marvelous advocate he is for his son. You must have been a special Mom to have such a special son and grandson..by the way, I love his hair! :)

Carla said...

What a sweet tribute to one you love:) It amazes me how durable and how fragile our makeup is. How lovely to have a name and info to your grandbabies condition. To know that all tho rare, it is not unknown. I can see that puppy being very therapeutic. Blessings to your family:)

Becca's Dirt said...

Catherine - thank you - Ethan will always be a special boy and has enriched our lives.

Kim and Victoria - thank you

A Brit in TN - thank you

DP - thank you. I am glad I have such a good looking son. They are special.

Debbie - he doesn't seem to get tangles so bad. He has to be tied down to get his haircut and it wasn't worth it Jimmy said.

Beautiful Wreck - he is an amazing child and he defies the odds.

Betsy - it is good that they were able to make the transision to Texas. It has made a difference in his medical care.

Far Side - he did a great deal of research when there was so little known about his condition. Jimmy was persistant.

Carla - thank you - puppy will be good for him - I think.

MOMSWEB said...

What a blessing and a miracle. Thanks so much for sharing.

Francie of The Scented Cottage said...

Ah Becca, he is beautiful.

(())

bennie and patsy said...

Tell Ethan hello for me and give him a sweet kiss and hug from me .
Patsy

Lynne (lynnesgiftsfromtheheart) said...

I just discovered your beautiful blog. What a touching story. I have never heard of this disease. He is such a beautiful baby boy. I can tell he is such a joy to be around. What a gift of innoence he must have. I'm sorry the poor little guy has to go thru so much. I'll be saying extra prayers for him and all of his family.
hugs ~lynne~

Darla said...

Now and again there are those 'things' that make you thankful for what you have. Thanks for sharing this private part of your lives. What an adorable child.

Joanne said...

What a brave liitle boy undergoing such awful health problems. From you post it sounds as though he is lucky to have such a loving family to help him through. How many parents move so far for medical treatment.
I am sure you all cherish him as he deserves.
Hugs Joanne

Chicken Boys said...

Wow. All I can say is wow.

Carol @ TheWritersPorch said...

What a precious child Becca! I pray his surgery is a success!

Marilyn Jones said...

Becca, God has given your family a special child who will bring you so close. Thanks for sharing his story. I don't have the severe problems that he has, but I do have ribs that are becoming deformed because of the injury to my spine. It can be very painful. I will pray for Ethan.

Rosemary said...

Having had a lovely daughter with Downs I can understand all your son is going thru and I know how special a child can be , wishing Ethan all the best........

Daisy said...

Ethan must be a great joy for you, Becca. It sounds as if he has a very sweet spirit. I'm glad you got the chance to spend time with him and enjoy his company.

Anonymous said...

As I read this, I think of how my daughter, Ziani, is following down Ethan's path. She too has Jarcho Levin, a shunt placed, and a G-tube for feeding. I have my time everyday where I just stare at her. She is something else! She never ceases to amaze us. She is beautiful and so strong. Oh and did I mention this intense, heavenly aura about her. I can tell Ethan has it as well. These children are such blessings and we, the parents, should be so lucky to have been chosen. I know the road is tough, but I wouldn't have it any other way.... We go to Texas at the end of the month and I want to thank you for sharing Ethan's story because we will carry him with us on this journey. And to Ethan, thank you for the hope you have given us...

Patrick said...

Keep hope !
Big hugs from France.

Leyla said...

My grandaughter was born yesterday with Jarcho-Levin Syndrome. We live in Orlando, Florida and the doctors and nurses are very confused and are taking us through an emotional rollercoaster. Could you please give us advice on what to ask/what to do in these early stages.

Could you also give us the name of the specialist in San Antonio.

We are all confused and full of questions that no one can seem to answer. Any help would be greatly appreciated.

Please e-mail me at: joneyla@hotmail.com

Leyla said...

My grandaughter was born yesterday with Jarcho-Levin Syndrome. We live in Orlando, Florida and the doctors and nurses are very confused and are taking us through an emotional rollercoaster. Could you please give us advice on what to ask/what to do in these early stages.

Could you also give us the name of the specialist in San Antonio.

We are all confused and full of questions that no one can seem to answer. Any help would be greatly appreciated.

Please e-mail me at: joneyla@hotmail.com

ED said...

HI Becca.

My son was born with some of the same issues your grandson has. He was diagnosed with VACTERL Association initially, however, at his yearly follow up with our Geneticist, he mentioned JLS. We will be undergoing genetic testing in the next few months. He will be having surgery this Januay to remove the hemivertabrae in his thoracic region.
Thanks so much for posting your grandson's story. He is adorable.

Good luck with everyhting and please keep us posted.

Ev

terran said...

hi, my name is terran. i have a ten month old son named eli that was diagnosed in may with jarcho-levin syndrome. we live in colorado and our resources for this disease are limited. our doctor's, no offense to them, have no idea what there dealing with and are taking more and more tests. Eli's condition is more milder than others, yet he still has all the fusion in his ribs and spine. he has sleep apnea, a little fusion in one of his heart valves, and recently with a kidney ultrasound, the doctors were unable to find his right kidney with problems with his left one. i'm am so tired of not getting thorough answers and stressed with not having a doctor who knows what this is. i'm begging you to help me cope:) he's an amazing little boy and i would just like some more info. is there any way you could e-mail me some more info on research and doctors? when i read your blog it makes me think of my son. ethan seems to have a great family to help him through this. i would like to give eli the same. thank you so much for taking the time to read this. i wish the best for you and your family. taryn419@yahoo.com

kevyn negron said...

hello my name is kevyn negron i am 22 years old and i have a beautiful daughter with jarcho levin syndrome she is five mouth she been a fighter.. doctors told me she wont be able to live since she was born but she has provin the doctors wrong she is finaly home now after being an the nicu at winnie palmer hospital for five months i see your son has the same syndrom i was just wondring if what kind he has because according to what i read ther are two kinds and my baby has both.

Becca's Dirt said...

Kevyn I have no way of contacting you. please leave your email. Ethan is my grandson.

Anonymous said...

I am a 38 year old male who was born with Jarcho-Levins Syndrome as well, and until three years ago never had any real medical diagnosis other than "missing thirteen vertebrae" as well as "scoliosis". The doctors told my parents that I would never walk--but that wasn't the case at all. I've never had any problems walking, but because my hips are touching my ribs, they do not "swivel" at all, and my right hip is slightly more forward, so it causes my right leg to be under more of a strain than my left typically.

I've never had any surgeries or emergencies due to this condition, but I have always had what many would consider "asthma", but it's just because my lungs are smaller than what they should be. The younger years were the "easiest", and mostly pain free, but then I started having issues once I was in my twenties due to having adult body mass. One problem is that I cannot sit still for prolonged periods of time without discomfort, nor can I stand for long periods either. The worst issue however is the pressure that's put on the "neck" area when sleeping, if you lay the wrong way. I'll get up and just feel awful, and as though I have a major headache because of all of the pressure placed in the neck region when the body is putting so much weight on an area that wants to bend but cannot.

It seems also like Ethan will grow up in a healthy and stable family environment surrounded by people who care about him. This is vitally important, and it's also extremely important that you watch out for how he's feeling once he starts going to school. Believe me when I say that if you think you had it bad as a child in school from other children being "mean" to you, you have absolutely no idea what he's in for. It had a terrible effect on me. Not only am I still having to deal with the very real--increasing--physical pain, but even when I am not really in pain, plenty of people feel the need to remind me of my condition on a daily basis. It's not pleasant at all, and it takes an extremely strong will to endure it as well as support from friends and family.

Do not ever treat Ethan with sympathy either. Be empathic about his situation, but treat him as an equal in all matters where it's possible. I would also highly suggest that you encourage "academics" as much as you possibly can. It's not as though most parents do not typically want this for their children, but in Ethan's case, it's more of a necessity. He will never be able to do a physically oriented job once he hits his 30's. I would also highly advise that you make sure he stays active and exercises when he can. In the later years, specific routines (especially pushups) tend to relieve much of the pressure/discomfort that builds up along the spine through counter pressure.

Kelly B said...

I periodically google "Jarcho Levin Syndrome" just to see if more has been learned about this horrible condition. 15 years ago we lost our daughter Andria. She died when she was 5 weeks old from JLS. She marveled us and defied the odds longer than we could ever hoped, but eventually JLS took her from us. Thanks for sharing his story, you have touched my heart.
Kelly
Mom to Andria Lynn

Mr. Duntov said...

My neice gave birth to a son named Kaladin Orion. The doctors again knew something was no correct. At 29 weeks she developed severe Pre-Clampsia, and to save her the took the baby at 29 weeks.
He was born with Jarcho-Levin, of te serious type we were told. Due to his premature birth he has an extra fight. 2 weeks since he was born, and my neice and her husband are enjoying their son Kaladin Orion.
Please Pray for Jenna, Joe and kaladin to keep strong in their faith and trust in the Lord.