hemihypertrophy

[mommy2842]

My 2 1/2 year old son was just diagnosed with possible hemi-hypertrophy and will be seeing a geneticist in about a week for further diagnosis.  He was a chubby baby when he was born he was my baby and all I saw was my perfect little boy.  As he began crawling I noticed one leg getting thinner but the other one wasn't.  His pediatric doctor said that he may be favoring one side and that it would even out as he started moving around more.  At 9 months he began walking alone and was a pro by his birthday.  At 14 months he began tripping, falling, and limping after he jumped off the couch.  The doctors did x-rays and could not find any reasons for the limping and referred him to a pediatric orthopedic.  Who only performed a bone scan and mri because of my insistence.  She said that he was just a toe walker and would out grow it but she would keep an eye on him.  ON the next visit I insisted that one leg was bigger than the other and she said that she didn't know what would cause that and scheduled a bone scan of his legs.  The scan showed a small difference in bone length but not enough to be out of the normal range see her in 6 months.  It is now 6 months later and last week my son hurt himself when I wasn't looking and I took him to the ER because he never cries from pain for more than a minute and it had been 20 minutes.  The ER docs did x-rays of his forearm (which caught his hand and elbow in the picture) They said it was a contusion of the wrist and there may be a small fracture that they can't see.  They gave him Tylenol and sent us home.  THe next morning was Friday and his bone appt. was the following Monday so I Called the Bone doc and she said to take him back to the hospital and tell them to splint it until she could take a look at it. So I did. They said that his hand was swollen and changed the diagnosis to contusion of the hand.  At his appointment the doctor knew right away that his elbow was out of joint.  She also noticed that the swelling was not swelling but his hand and arm bigger, it was also noticeable in his face.  She diagnosed him with a mild Hemihypertrophy possibility. After all this time of the doctors putting me off as overreacting to nothing major and only getting this diagnosis after a long time of seeing a doctor I wonder if there are any other diagnosis that it could be where one side of the body grows bigger and longer than the other?  I also want to know how an ER doctor can mistake a dislocated joint with a contusion especially when the joint was included in the x-ray?  I will do everything that the Doctors say as far as testing but I really want to make sure that the testing is necessary before putting him through all that.  Is hemihypertrophy the only thing that can be causing all his problems?

[Bujoy040808]

Hi! I was hoping to find out what happened to your baby who I assume is 8 by now.. My first baby, Adam, was also born to be as healthy and as perfect as I thought he was until I noticed that as he grows his right leg is getting thinner compared to his left. His doctor also advised us the same as yours, that he would get along as he grow. But I think it is just getting worse. I was hoping to get ideas from you. It would greatly help me a lot. I feel like I'm walking in the dark about my son's situation. Thanks so much.

[etherese]

Hello, my son was diagnosed with hemihypertrophy.  I was the one that noticed it at around 6 months, as the weather changed adn he was wearing less clothing and thinning out.  Anyone able to update on their children?  He is a year old now and we are battling an elevated AFP and AST level but ultrasound appeared normal.  Waiting three months to do it all over again.  I'm also curious as to whether you saw a physical therapist or not.  We are living abroad currently and I am not impressed with orthopedic doctor I saw.  He basically said wait til he is 4, it's ok if he walks with a limp at home.  

[llejjla]

Hello , i just saw this post and joined this group. I know it is an old post , but i really wonder what happened to your child and what was the last diagnose. My heart goes to your pain and trouble you went with doctors. I had bad experience with them and their unprofessional behavior too.  My son is only 3 months old and possibly have hemihypertrophy . If you could please let me know what happen to your child and how is progressing.
I hope you are are great
Thank you
Lejla

[RunningMom]

Oh how awful.  I'm so very sorry to hear of both your children's conditions.  My heart just breaks to hear your children going through so much.  I will pray for you and your family that you will be able to find the treatments and care you need for your children.  I wish you the best of luck and please keep us updated.

[jamlws]

I really don't have any answers for you but I just wanted to say I am so sorry your going thru this. I know it has to be so hard on you and your son. I hope things get better for you guys. It really hurts us moms when there is something wrong with our kids. I would glady take my kids pain when they have pain so they woudlnt' have to deal with it but when they have a test at school they can have all of that, cause i don't do good on tests.
Hang in there
Jamie

[Tuckamore]

I am so very sorry to hear that your son was diagnosed with hemi-hypertrophy in addition to a blood disorder. And how heart wrenching that you daughter may also have this condition. How very tragic. I do not have the words to express my compassion or concern for you and your young children.

I understand your delay in deciding on another pregnancy. According to what I have read most cases of hemihypertrophy are not inherited. However there are a few cases where two children in the same family have had this condition. Reportedly these cases are not well documented and it is possible that the families actually had another genetic syndrome.

The articles I have read state that there is not a single (meaning one) gene that appears to be responsible for hemihypertrophy.However research indicates there may be a number of genes involved but their locations and functions remain known. Is this what you are being told also? I assume you are being seen and followed by a large teaching medical center. I also hope that you have some great physicians.

It so wonderful that you came back to update us, We rarely see this, especially a year after the original post. Thank you so much. I wish I could offer you more than a thank you and that we are here if you need us. I sincerely hope you have a good support system.

Again thank you for the update. I will look forward to hearing from you again.

My Best to You and Yours,
~Tuck

[Mommy9266]

My son is now 3 1/2 and not only has he been diagnosed with hemi-hypertrophy, but now he has a blood problem that he is being checked for.  I am being told that it could be linked to the hemi-hypertrophy.  I have changed my email a few times but I am the original poster for this post.  He also has a sister that is 10 months old that now has the same growth symptoms so my children will all now have to be genetically tested to see what genetic factor is causing it.  I have decided not to have anymore children until I know what genetic factor is causing this condition and if the condition can be prevented.

[Tuckamore]

Hello Mommy,

I can imagine you are experiencing so many questions and fear with the tentative diagnosis of your son. I am so sorry that you and your son have to go through this. My heart goes out to you both. Please be awre that there are no physicians on this site and we rarely get questions regarding children.

I did some research on hemihypertrophy. I have found that it is often extremely difficult to distinguish hemihypertrophy from normal variation. However, this distinction is very important because young children who have hemihypertrophy are at increased risk of malignant intra-abdominal tumors, such as Wilms tumor or hepatoblastoma. The increased risk of neoplasia has led to the controversial recommendation of frequent abdominal ultrasound screening designed to detect the tumor at the earliest possible stage. There is no know cause of this condition but the researchers seem to be leaning towards a rare genetic disorder.

If you search the www there are sites that contain some good information regarding this disorder. I suggest that you do that if you haven't already.

Physicians make mistakes every day. It is a fact. (Possibly the equipment could have failed.) And some errors are more serious than others. We must all remember that physicians are just humans with faults. They do not know every thing, they can't. They experience good days and bad days just like we do. They go through crisis, divorce, personal and family illnesses, death, mental illness and all the other calamities that we all endure.  We put physicians on a higher level than most other professionals and we expect perfection. And when one is dealing with life and death they need to be error-less as compared to other professionals but it is not possible to be perfect. So that is how they made a mistake, they are human. I know that doesn't make any of us feel better when their errors affect us or those that we love. Second opinions are always a good idea, especially when it comes to our children.

I would allow any testing that could lead to a diagnosis as long as it would not jeopardize my child's health. Again, my heart goes out to you. Please let us know how you and your son are doing. Best of luck to you both. Tuck

[nurseaudrea]

I am sorry you are going through so much with your son. I can't imagine going through all that. I don't know much about that diagnosis, actually I have never heard of it. Hopefully it won't be too noticable and won't cause any real problems physically and emotionally.I only wish you the best and will keep you in my prayers. Good luck.