My 1 year old son was diagnosed with a genetic abnormality: some of his cells are missing the Y chromosome typical of males. Out of 20 blood cells tested, 13 were normal with XY and 7 were missing the Y. I have spoken to the genetics department at the hospital and they couldn't really tell me what to expect. I have read that mostly girls are affected by that syndrom so I was wondering if any of you had any input.
My son was also born with hypospadias and one undescended testicule. When he went in for surgery, they removed the teste, which was malformed and had tissue resembling that of a fallopian tube. That greatly worried me, because the fact that he had female tissu might increase the likeliness of being intersex. The doctors tell me that since the tissu was removed there is very little chance he will produce female hormones and that we will have to monitor his growth and puberty stages closely as he gets holder.
The other thing worrying me is the fact that he has not said mama or dada yet. A ENT doc told me he needed tubes because of fluid back up in his right ear, but his left ear is fine. And when asked if the lack of speech was related to his earring or his condition, he said to his condition. But it seems to me in the last week he has started using different sounds: still no consonant-vowel combo, but different ranges of vowels. Should I get tubes in his ears, even though one of them tested fine? I am thinking about getting a second opinion because I really was satisfied with the ENT I saw. He didn't really inquire about his condition and I felt rushed and like I had been fed cookie cutter answers. Other than his speech, he has reached other milestones in the normal range, so I don't know what to think. Help please!
First of all, I would like to thank everyone for their advice and support, it was truly heart warming. Luke is enrolled in Early Intervention, the Illinois program equivalent to First Steps in MO. He was evaluated by speech, OT, PT and developmental therapy and will receive speech and occupational therapy starting in August.
I found some online groups and organization dealing with his syndrome and have gotten in touch with other parents of mosaic Turner kiddos. It is hard to know what the future holds but having the ability to discuss the issue with parents who are experience the same situation or have already been through it as a valuable asset.
For the ENT, I wanted to make sure the diagnose was made because of my son's needs and not merely to make money off my insurance. We did go and see another ENT, with whom I felt much more at ease and who took the time to explain the pros, cons, reason and options. So we went ahead and scheduled surgery for 8-13.
Luke, ever surprising, started saying "baba" yesterday, which brought tears to my eyes. So I am hoping that with the help of the speech therapist we will get him where he needs to be. So once again, thank you all for taking the time to reach out to me, it meant a lot...
For a second ENT opinion, Dr. Julie Wei at Children's Mercy was excellent. She evaluated my daughter's ear infection problems, and we were pleased with her recommendation. Another person in my office consulted with Dr. Wei, and their child did need tubes. They were very pleased with her and her work on their baby.
A great ENT is Dr. Kelvin Wahls. He is in Lakewood in Lee's Summit area. He is amazing with kids and he truly takes time to listen.
C. you have a lot of ahead of you and my thoughts are with you! I encourage you to ALWAYS get a second opinion, even if the second doc says the same thing. It's always better to hear more opinions and maybe another doc may have different ideas and/or resources! Good luck!
Sorry to hear about your difficulties.
First, children who see chiropractors almost never need tubes in their ears. The chiropractor I work with is wonderful with children. He teaches the parents a simple massage technique that drains the fluid build up and then tries to discover the real cause of the fluid build up so it can be truly remedied at its source. The fluid build up is almost never caused by a structural malformation, so changing the structure to increase drainage isn't solving the underlying problem in most cases. In this child's case, however, a physical malformation is a bit more likely. But, I would deffinately check it out with a good chiropractor who is known to be good with children.
No matter how distracting all this may be, remember that your job is to love that child and help him discover the beautiful human being he is. Best wishes to you both!
ALSO: You can contact the Magic Foundation to talk with experienced moms: http://www.magicfoundation.org/www/docs/115.113/turner_sy...
have you thought of having his hearing check with a audiologist because i had a daughter who was not talking and using words so we had her hearing screened and she has hearing loss in one ear. my second suggestion is to talk to him about everything he is doing or what he is doing. like for say say he is playing with the ball and he rolls it you might say. look you rolled the ball across the floor or look you throught the ball. you can also discribe what he is doing to him. my daughter is 19 months and still is not talking in syllables. she uses sign language and it works so she can tell me what she needs. I have done this will her since she was 4 months old and she can use alot of the words know and the ones she can't she will sign until she can say them. I have a wonderful ENT in Lawrence and I know a few good one in Olathe, and overland park. I would think that you could also do second options if you don't like what they are saying i have done this many times because you always want to be sure before they diagnose something. work with him and talk to him that is my best advice for you.
C.,
I can't speak to your son's medical conditions, but take him to a speech therapist, they are amazing people and will have a whole different perspective.
My grandson refused to talk, all he did was make grunting noises. His Dr. told my daughter to teach him signs so he would be able to communicate and then just let the talking come naturally.
We took him to a speech therapist 3 months ago, he sees her 2x per week for 45 minutes. He now has a vocabulary of 125 words, and several new words each week.
She told my daughter that this would have taken years to "come naturally".
Find one, and talk to her/him, they can test your child in under an hour just by playing and interacting with him.
Good luck!
Definitely seek a second opinion. If we aren't happy with the quality of care, we move on to someone who will sit and discuss the important aspects of the child's life. I have known children who have only had 1 tube place in, not needing both. Good luck, our prayers are with you.
Jan in MO
There is an online support group for your son's condition at www.xyxo.org
It seems like a good resource to get more info, ask questions, and connect with others with the same condition. I hope this can help you and your family.
Hi C.,
I have some friends who have a daughter who has Turner Syndrom. The things you are concerned about for you son are some of the same things she is worried about for her daughter. Try looking at turnersyndrom.org...I checked it out, there is a support group chapter near Chiciago. I'm not sure if this helps.......good luck!
Although I don't know about your child's specific special need, I have worked in early childhood special ed. for 30 years and have 5 boys, 3 of whom have special needs. I would recommend you keeping an eye on the hearing issues...my last son (now 8) had tubes @2 months until he was 4 years old (3 sets). I'm so glad we kept them in because his language took off, even though he had trouble with auditory discrimination later when he started to read. He is now reading at the 5G level after 8 years of intervention for his severe needs. It's a lot of work, but now socially, emotionally and academically we're starting to see a happy child.
I also recommend you contact First Steps System Point of Entry (SPOE) in Missouri about having an evaluation. It is free for parents and well worth the effort. 1-866-583-2392.
L. B
Hi C., I don't know about your sons condition, but wanted to reassure you that God will not give you anything you can't handle. Just do the research and find a good support group, I'm sure there is one out there.
About your sons speech, a friend of mine's daughter was the same way, she only made sounds and no definate speech. Please have him checked at a hearing center. She was a year when they found out she was completely deaf. I'm not saying your son is completely deaf, but he may infact have some hearing loss. Find a pediatric hearing specialiat, Children's Mercy is where they went. God has blessed you with two precious boys and He knows what you are capable of as a parent. So don't worry to much. Good luck and God Bless.
C., i really know nothing about your son's condition, but wish you all the best. i only wanted to tell you that my son didn't say "mama" and "dadda" defintively until past his first birthday (and they were NOT his first words, or even close! "sit down" and "Kitty" were some of the first), and he was normal or early on all his other milestones. it could just be that he's dealing with other developments (teething, learning to walk, etc) and talking has taken a back seat. my son walked at 9 months, so we was busy with that. once he started talking about 14 months, he took off. i'm hoping for similar for your son!
HI C.,
My heart goes out to you! My son was born w/ a cleft lip/palate, so we knew he was going to need speech therapy as soon as they would allow. I live in MO so he automatically qualified for speech therapy due to the condition. He started at the age of 1 he got an hour of therapy a week and after time I asked for it to be increased to 2 times a week. At the age of 3 First Steps is over, so then it turns over to the school district. I'm not that familiar with your son's diagnosis, but have heard of it(long story), so not sure if there may be other possible delays. If there is First steps handles a variety of specialties like feeding therapy, physical therapy, etc. Also, my son has gotten tubes in his ears twice and I know that makes a big difference if they are having trouble hearing that will effect their speech, so I would do it if the doctor advises it to be done. I wish you the best, follow your heart and mother's intuition. I understand wanting to reach out to other families that have similar child that can help support you and may answer some of the unknown questions. Plus, it just makes you feel like you are not the only one facing this. I was also concerned about how other children will treat him and how to handle those situations. I fortunately, did meet up with families that have children with the cleft lip/palate, but I've ended up being the one telling them what to expect with surgeries, etc. I've drawn a lot of strength by doing tons of research on the internet, supporting others in the same place. Plus knowing that I'm not alone and my child is beautiful and truly a gift!
R.
go to above site and type in what u want an answer for, it will bring up several sites for u to read,
Although I don't know anything about turner Mosaic, I am quite familiar with tubes. My middle boy had 1 set of tubes at 2 years and my youngest boy just had his third set of tubes and his adnoids taken out(he's 3). In babies and toddlers, the eustachian tube(which is holding the fluid)lays flat-when kids get older and they grow, the eustachian tube is slanted/allowing the fluid to drain easier. My youngest had a hearing test done at our ENT's office and it was determined that his hearing was not where it should be and then we had a cranial x-ray done and it turned out his adnoids were so big they were blocking the eustachian tubes from draining the fluid. He just had his 3rd surgery this past June. The recovery was nothing.
Now my middle boy had major speech delays more with articulation. Girl let me tell you that was a fight to get him in speech but I was so persistent and determined I did not give up....basically Follow your gut and listen to your heart as only you konw what is right for your child.
Good luck and God Bless!
I don't know where you are located but he should qualify for therapies based on his diagnosis. Also you can check out Unique for rare chromosome abnormalities. If you are in Missouri..First Steps would be the first place to go and get help. Parents as Teachers are also available to you. I would be getting him speech as soon as possible. I got speech for my little girl with Down syndrome at an early age because her older sister is non-verbal. Both of my girls are still not talking but speech isn't that important to us because they know sign language. That is also something to start teaching your son. www.signingtime.com is a great place to get kids tapes to teach your son.
St. Louis Children's Hospital has a Family Resource Center that can help you out. If you go to the website and request
information, they can send you a book/info on it.
stlouischildrens.org
Hi C.,
I am a preschool teacher. I am emailing about the ears and speech. Please get a second opinion if you felt rushed. This is your child and you need to find a doctor you feel comfortable with.
One year old children should be making words most adults can make out. This is missing and worries me. Please see a different ENT and ask your school district about Parent's as Teachers. This is a free service in MO. They can help you with speech and other testing, again free.
Good luck!!!
For an ENT we go to St. John's to see Dr James Forsen. His bedside manner leaves a lot to be desired and he's pretty quick to make decisions but I feel he does know what he's doing. I always call our peditrican as soon as I leave the office to get the bedside manner I need. I just tell our peditrician what Dr Forsen said and our peditricain always sugar coats it and makes everything seem much better. Our ped. is Dr. Norman Steele at DePaul.
You can call First Steps to have your son evaluated to see if he will qualify for any services. If he's at least 50% behind in any area he will qualify for services and they will send a specialist to your home. They do all the screenings at your home too. They sent a developmental specialist, speech therapist to my home for evaluations and he qualifies. So we'll be getting services really soon. They will soon send a physical therapist to evaluate him and he will get those services at the house too. The best part is that it's free. You can call Ruth Nothdurft at ###-###-####. You can also visit the website of specialists by visiting http://eikids.com/mo/matrix . I don't really know if they have first steps in Illinois but someone there can send you in the right direction. Also, Missouri has Parents as teachers. It's a free program through the school district. I'm not sure if Illinois has it or not but that's also free and they evaluate the children on a frequent basis as well.
Good Luck with everything
Hey C.,
I'm not familiar with your son's condition other than what you stated. The fact that your son has reached his other milestones and that your Dr has stated that your son's lack of speech is due to his condition, I would relax a little. Speech can be delayed for other reasons too, such as a growth in physical skills (walking). It seems some kids will only concentrate on one or the other at a time. At one, kids are just starting to say some words, but still mostly babbling. It's good that he's making noises, that will tell you that he's hearing enough to say them. Definitely keep up with hearing tests to make sure he is hearing so he will develop more speech sounds and words. Continue to talk about books, talk, & sing to him so he gets a good example of speech on a daily basis. My daughter was around 18 mo when her language skills exploded and she started saying more words that you could understand. If you still have concerns and live in the Wichita area, Rainbows United treats children 0-3yrs. You could contact them on info about speech and services available.
Hang in there!
I'm not sure about your sons genetic condition. It sounds like the doctors are monitoring everything closely, so that is definitely good news. As for the tubes, I would have a second opinion. It could be that your son has a speech delay. My older son did. We put him in speech therapy for just what you are describing when he was three. He did so well he was released when he was four. He just needed a little extra help. You might consider having hearing tests done. We spoke with an ENT who told us exactly the same thing. When we had his hearing tested, it was perfect and he outgrew the fluid and ear infections on his own. What I would do is have his hearing tested. If that comes back okay, it's probably a speech delay, which is very common - especially in boys.
Hope that helps.
K.
Hello C.!
My name is J. Hatfield-Callen, and I am ithe Information, Referral and Outreach Specialist for the Missouri Developmental Disabilities Resource Center at the Institute for Human Development-UMKC. We have parent-friendly information on different developmental disabilities, resources for services, a parent mentor program where you can talk to another parent who shares similar experiences, and many other opportunities to help you feel more informed about living life with the experience of developmental disabilities. Most of us here on the MODDRC team have the experience in one way or another (I am a person with a disability and the parent of a 21 year old young man with FASD, ADD/ADHD, and a learning disability). We would be glad to assist you in any way possible. You can contact us at ###-###-#### or 800-444-0821. This is a completely free service, with over 20 years experience--please feel free to give us a call (in fact, I have a really great handout on Chromosomal Differences/Abnormalities that you might find helpful!)
Sincerely,
J.
I don't know anything about the first part of your request but I wanted to reassure you that talking by the age of 1 doesn't always happen. My first son was the only one who talked before one. My second son had a few problems we had to address but that was rare too. My third child, daughter, didn't really talk until about 18 months old or more - she was too busy working on her mobile skills which was her best thing. She was walking since she was 10 months old and climbing and augh, the stress. She is now 3½ and boy does she talk - "She Has No Off Button". LOL. Forth child isn't talking much at all yet and he just turned 18 months. He say's "Key" every time our cat walks by and he can say "Mama" but he's not calling me. I'm not concerned yet and will wait several more months before I think it is something I have to address. I hope I've made you feel better about the talking thing. Not every skill progresses the same. Something has to lag behind and something has to be their specialty.
Good Luck to you and God Bless.
C. R.
Wow, it sounds like your little boy is going through so much. I would get a 2nd opinion about the tubes in his ears. I would request to have him seen by an Audiologist instead of ENT. An audiologist can run different tests on his hearing functions to determine if it's his hearing or not. If you are worried about his possibility of being intersexed, see if the doctor can do a test of hormone levels. Estrogen levels will be present if he is intersexed. Testosterone is hard one to test for in little boys because it normally doesn't become prevalent until puberty. I wish you luck!
