mums with children that have undiagnoised children

Amy - posted on 07/14/2010

he's more than likely had that test, but i will ask his consultant when i see him, owen's had so many tests there's not many more they can do i think know

Lorena - posted on 07/05/2010

Find yourself a good genetic physician and run the test FISH it could be fragile x which is usually misdiagnose for cp or autism because fragile x has similar symptoms. Best of luck.

Amy - posted on 07/01/2010

hi everyone, went to leeds on monday, he had his eye tests still awaiting results for battens disease, and for the day were going for owens leg biopsy, but the doctor said owen eyes look fine for what he can see, but because its coming from the brain what ever it is, its a nurogical problem, there could still be problems with owens eyes and they may not be able to find that out, today owen went in my dads pool today, we heated it up for owen as the pools outside, and he liked it he didnt smile but he was quiet as all he seems to do these days are cry, than we found a baby bird when we got back home were calling the rspca tomorrow as there has being no luck getting through today, and also were hopefully going to be in the hull daily mail, are local news paper here, thay want to know about owen and what his life is like.

Amy - posted on 06/10/2010

also if i have not answered can you please e-mail me as it would be easier thank you.

Amy - posted on 06/10/2010

hello girls, sorry i've being busy and haven't being on here for a while, i was on a minute ago about to comment each back and my laptop died lol, so ill tell you what iv'e being up to and how much i appreachiate all the comments.

Well, i hope you all have a look on owen website as i keep a blog on there, of whats happened recenly which i do need to do again tonight lol, well basically owen's mri scan showed something deep in his brain, that cannot be cured and proberly cannot treat the doctor said, he said he thought it could possabley be infantile batten's disease which basically the child will loose vision, hearing, ability to do anything, become bedridden and die at the age of 5-8 years old, as the vision goes first there is also some alarming as on the scan the nerves to his eyes were a bit damaged, the thought of owen dieing killed me, untill the doctor rang last week and said there still waiting for the results for batten's disease, but other nuroligists have also had a look and they think it's less likel to be that know so owen's going to have a muscle biopsy very soon, which hopefully will bring some good news, but also waiting for the results and just hopeing there negative for batten's. it was owens birthday this week 2year ols know.

well moving onto the comments i appreachiae them all so much, i would like to say to some that owen does have everyone he needs as in portage, physio, occupational therap, and all the right doctors. also owen and myself are going to a club in brough were we live in east yorkshire, for children under 5 that are lacking in things or like owen disabled, but i have to say the biggest thank you are to the people that reccomended me to ask my doctor about what it could be as know i can tell my doctor and either find out it's that or it's not.

well guys please have a look on wens website.
owen-brian.weebly.com.
also if i do not contact back could you please e-mail me to amybby2k9@hotmail.co.uk, or owen-brian@hotmail.co.uk. sorry i have being really busy.

Tracy - posted on 06/09/2010

Hi

It is nice to know there is so many of us out there, My Jayden was born with syndactly and had many tests done which detected nothing. He couldn't suck so there where many sleeples nights trying to feed him that little bit of milk. Lots of tears, heartache and why me. When he was about 7 months all the Doctors and Specialists started he was a quinea pig to them all years of no answers and brain scans we decided to stop going and concentrate more on him. We never stopped believing in miracles and they do happen. He had craniostinosis at 18 months and a cyst on the brain when he was five years old no sign of anything. He started walking when he was seven now he is nine and we do believe he will talk. He is the light of our lives loves music happy to go for rides loves attention. He is still in nappies and needs to be fed even though his progress has been slow there is always signs of improvement. NEVER GIVE UP.

Kaye - posted on 06/07/2010

Hi Amy

My youngest daughter has alot of what your son has. Have you looked up or read much on the computer about the microcephally because a lot of what he is doing is related to that,including the feeding not talking etc. He probably also has cerebal palsy which goes hand in hand with the micro and reflux which doesn't help with the eating. Next month my daughter will be 4 and the only difference is my child has the rigid cp instead of the floppy until she gets tired. Get yourself a really good neurologist some physio and ocupational therapy as that will help but not cure the problem.
Good luck. Hope this helps
Kaye

Jennifer - posted on 06/06/2010

Please get genetic testing done, I belong to a group of moms with children who have 48XXYY syndrome (Klinefelter Syndrome) and it sounds a little bit similar with what your son is going through. our doctor told us there was nothing wrong till my son was 5 years of age and did a genetic test..which basically explained in one diagnosis all the problems we had with our son were real. good luck :)

Shirley - posted on 06/05/2010

Hi Owen's mom, i can relate and know that its not going to stay that way. i used to think the same wiht my daughter but with prayer, being on the doctors for results and more prayer--now they cant remember why they gave her these diagnoses.remember you are his advocate--do research and continue like it was you. Ask your GI if he can be on lipids to help wiht the weight problem. and is he in therapies (OT/PT/ST), if not call your local child net and see how they can get you connected. and i will let you know from now, it will get frustrating and tears will come down like a running river--but with lots of prayers, God can change thing. Its not a cliche!

Barbara - posted on 06/05/2010

I know of a mother who had the same issues as you and she has gotten great results through a nutritional science company. The body is out of balance and that is what is causing some of the issues. If you like, I will put you in contact with her and she can tell you what she is doing.
Barb

Donna - posted on 06/03/2010

Hello! My daughter is 12 and was just recently diagnosed. She has a seizure disorder,hypotonia,cortical vision impairment,microcephally and had failure to thrive,but is now tube fed and had surgery to prevent reflux. Like your son,she does not walk or speak,but did sit up on her own when she was just over 5 years old. She has had just about every test known to human kind and then the doctor suggested that she have a muscle biopsy to determine if she had a mitochondrial disorder~sure enough that's what it was. Mitochondrial diseases effect the amount of energy put out by your cells which in turn effects the muscles,etc. Our neurologist said whenever you have 3 or more body systems effected and have no diagnosis,think mitochondrial disorders. Good luck with your search~ though our children are complicated,they really are God's most precious angels
Donna

Susan - posted on 06/03/2010

Hello Amy,
Does your son Owen have a thyroid problem? The reason I'm asking is my son was mis diagnosed until age 2 as well. we later found out he has a rare geneitc condition called MCT8 Specific thyroid hormone transporter gene deficiency. Please check out my website www.mct8organization.org my son jonathan's story is on the website. My son has the same symptoms as your son has, the the thyroid results will determine if it is the MCT8. I wish you all the best i hope you get your answers soon.
Hugs
Susan

Anne - posted on 06/03/2010

Truer words were never spoken. You have to be the voice for your child and know your and his rights. No matter how tired you get, you will be fighting the system a lot and you have to remember to choose your battles, but win the war. Be involved with the schools and get in touch with any local agencies that help with parents of disabled kids. We have an agency called Parents Unlimited here in Idaho and they have free training classes for parents to learn about the laws and your rights under them, how to work within the system, etc. And whenever you're denied services for some generic reason, push back.

Lisa - posted on 06/03/2010

if your town/city has an agency in the community living spectre, start there, some of them will have infant development programs which will help you with support for the two of you at least. I have been in the field for many years, and the one thing i know for sure, is that SQUEAKY WHEELS type of parents, get the most help!!! so, yes, be assertive, and a strong advocate for your son

Anne - posted on 06/02/2010

Hi Amy,


I have a child like Owen. His name's Garrett and he is one of a kind.

He is now 15 years old with similar symptoms, almost amazingly similar, at that age and even today. They get more pronounced as he gets older.. Never a diagnosis to this day, but that's not atypical.

I would encourage you to do as much as possible to engage him and not allow repetitive activities like sitting in front of the TV. I do know how hard that is, especially if you have other kids. Engage him with cause and effect toys. The more obnoxious and annoying, the better.

Read Temple Grandin's "Thinking in Pictures" if you have any reason to believe he may have autisitic behaviors. My son Garrett has been diagnosed with global developmental delay, which I hate to tell you, is a catchall for "what we don't know". The jerky movements could possibly be myoclonic epilepsy, which we discovered Garrett had at about 10 months. An EEG will tell you more. I'd suggest a 24 hour digitrace EEG, not fun, not pretty, but no pain for anyone.. Just messy.

We used the Ketogenic diet to control seizures for Garrett starting at 14 months old and it worked great.. for a while. We later switched to more conventional anti-convulsants, but the risk with kids under 2 years is huge.

He also had low muscle tone (or what the therapists called "hypotonic" meaning really flexible).

You're not alone. I hope I haven't made you feel overwhelmed or sad or added to your problems. This is a Trip to Holland. Google that "Trip to Holland" and feel free to cry and bless it all and release it. But it's all true. It's a bittersweet journey.

You are not alone.

Anne

Patsy - posted on 06/02/2010

hi i have a 3 year old boy with serve global development delay, he has macrocephly (large head) low muscel tone and lots of other problems he has just come on leaps and bounds in the last year so dont give up with all the right intervention u will see improvments honest , where do u live i am from halifax and there is lots of us special mums who get together alot if u want to meet me my e-mail is patsyoshea@hotmail.com dont feel alone i no how u are feeling i am going through the same we see 2 consultants one in leeds and 1 in halifax plus gentics

Catherine - posted on 06/02/2010

OMG you must be very worried! Good luck and I wish I could help you more...

Julieanne - posted on 06/01/2010

hi there this sounds like what my daughter was like when she was little and we had lots of test done on her and now we have a name she has Ehlers-Danlos Syndrome,get it checked out my daughter is 9yrs now good luck ♥

Jeanette - posted on 05/28/2010

hi hun i really do know the feeling. my daughter will be 10 this year and still no diagnosis. if i speak to one doctor its one thing she has and another says its some thing else. argghhhh. it is frustrating hun but you just need to hang in there. have you done any research in to your sons symptoms maybe this will give you at least an idea of what it could possibly be and then speak to your doctor about it. good luck hun i hope you get the answers soon xx

Kim - posted on 05/27/2010

hello amy. owen son's like my son tyler who was diagnosed with cerebral palsy at age 1. he could not sit, speak, feed well or keep his head up. we are fortunate his condition is mild and with the help of early intervention program, he is 5 today, very active, can run, ride a bike, no longer has feeding issues, etc... Contact a neurologist for a diagnosis, then get him help quick. kids are resiliant and can bounce back very quickly.
i will you both the very best of luck.

Amy - posted on 05/26/2010

thank you kate and julie, it means s much to hear from someone who has being through it and is out the other side, kate i hope all goes well for you x

Julie W. - posted on 05/25/2010

Hi Amy,
I know how frustrated and sad you must feel because I, too, had the same thing happen when my son was born 25 years ago. He was full-term but small for gestational age at 5 pounds, 9 oz. with low apgar scores and considered "failure to thrive." There was no indication anything was wrong before birth but when he was delivered, he started turning blue and they had to rush him away and give him oxygen. It was difficult pushing the placenta out and there was suspicion of insufficient nutrient distribution to the fetus while I was pregnant.
He had tons of specialists examine him and his geneticist discovered all his chromosomes were normal but no one could give him a diagnosis. He was my first child so I cried all the time, felt totally frustrated, confused, hopeless, helpless and extremely sad and disappointed. At the time, before he was born, I had subscribed to a newsletter called "Your Growing Child" and discovered that Alex wasn't making any of the milestones he was through the months and not even coming close. All that time when I saw other children, I'd feel like an outsider looking into a world that I couldn't be a part of.

We took him to every specialist there was. He was poked, prodded, biopsied, spinal tapped, ekg'd, and still no one could give him an adequate diagnose except "severely mentally retarded with severe developmental delay." Through the years, I had to advocate for every service he needed and made sure the school districts and regional centers paid for physical and occupational therapy (where he eventually learned how to sit up at age 3 and learned to walk short distances with a walker at age 7) and later on can take a few steps across the room unassisted, so miracles DO exist!

I joined support groups put on by PARCA and the regional centers. I read up on every bit of info I could get my hands on -- this was BEFORE the internet.
When Alex got even the slightest cold, he'd get a fever and had many a grand mal seizure where the paramedics were familiar with our address as we'd have to rush him to the hospital in the middle of the night and during the wintry months when he developed more colds.

To this day he wears diapers, is nonverbal (except babbling), can't groom himself, read, write or feed himself very well but turns my world upside down with the light I see in his eyes as he smiles at me and the people who surround him with love and attention. He loves music, snuggling, going for rides and walks in his wheelchair, eating, listening and looking at books I read to him and I wouldn't trade all the joy he's given me through the years for anything!

Join support groups, mother's clubs, online blogs, don't take doctor's negative remarks to heart. I used to hear all the time and still do occasionally, "Why waste your time with him, concentrate on your other children instead," and so on -- from each of my parents as well. I felt totally alone in this world and I was determined to give my child all the love and care that I never had from my own parents. Because of this, Alex has thrived and continues to thrive and brings a smile to all who get the opportunity to meet him.

Stay in touch with me if you like and lean on me if you need to. I've been there and hopefully can help you on your journey.--Julie

Kate - posted on 05/25/2010

Hi Amy, I just had a look at Owen's website, what a beautiful wee boy he is, I cried when I read your blog and still have tears in my eyes. It is so scary when they are coming up with all the possible diagnosis, we were given some pretty terrible consequences too at the beginning, including that she wouldn't live to 2, then 5- the latest was 10 and she shows no signs of going anywhere, so please keep as positive as you can (I know its not easy) because the doctors aren't always right and there are loits of nmiracle children out there - Owen certainly looks like a special miracle child to me. Love lots and please keep in touch with your results.
We go up to Auckland on sunday to Starship Childrens Hospital for surgery on Beau's legs. Its at the other end of the country but Beau cannot be anaethetised anywhere else. Its a specialist hospital - the only one in NZ - a bit like Great Ormond St.
I'll have my computer so will be checking this blog.

Amy - posted on 05/25/2010

heya tanney thank you i will have a look xx

Amy - posted on 05/25/2010

thank you amanda and madeliene, yea owens on relux medication as well as medication for his weight and for his high muscle tone, he does have physio and occupational therapy but its every oher week, i do think he should be starting to have it more regulary tho, thank you for all the help, it's good to know im no the only one

Amy - posted on 05/25/2010

heya katie, i hae a really good peadiatrician and yea its very frustrating not knowing, check out owens website. www.owen-brian.weebly.com

Jane - posted on 05/25/2010

My boy, Tanney, had a lot of that going on at age 2. Though we knew early on that he was having seizures, and that he would most probably have cerebral palsy.

It's hell in the hallway, not knowing what door your boy will be behind.

Tanney has come a long way, with therapies, and being a very, very persistant little bugger. :)

I know in the UK you can wait roughly forever for dx. Have you tried Children's Trust, or Great Ormond Hospital? Even symptom checker on mayoclinic.com might be of use to you.

(((((((HUGS)))))))

Madeleine - posted on 05/25/2010

I am with you there too. My son is 2 and has some of the same things your son has. He can't sit, walk, talk, he has some jerky movements, feeding and weight issues. He is on meds for his reflux and it seems to be helping. A lot of children with low muscle tone (Hypotonia) have that issue. Andrew was born like this but it doesn't stop him from being a typical 2 year old. He has Physical, Speech, and Occupational Therapy 3 times a week.
You have to get your son in a good program in the UK. I have family there and it seems that you have to fight to get your child tested. If it was me, I would start with getting him tested with a genetics dr and then a muscle and nerve biopsy. Even though that all Andrew's test come back normal, I wish that I have the muscle and nerve test done a year ago so we could have ruled everything they thought a long time ago out. You can also check John Hopkins Hypotonia Center on line to give you some ideas on where you can look for some information. We see Dr. Cohn and he is a wonderful dr. He has put so much into this program!! Take care and keep us updated.

Amanda - posted on 05/24/2010

I am also goin through the same thing as well the only thing my daughter has been diagnosied with is chronic failure to thrive..we have been to almost every specialist at Riley Hopsital.No one knows an answer..One said it was RSS(russell-silver syndrome) but the other refuse to see the possibilities...

It is very frustrating and can even some times become depressing.. I would also research on your own & find a doctor who will listen to you.. dont let people(the docs) think because your young you dont know what your talking about.. Thats the way they make me feel sometimes.. please keep searching & answers will follow

Kate - posted on 05/24/2010

Hi honey,

I really do know how you feel. It was like that with my daughter as well, and it is so scary and frustrating not knowing what is wrong. Basically you need to be really assertive and find a good geneticist and paediatrician, research as much as you can on the internet - you can put in his symptoms and it will come up with possible syndromes. Then you can compare him with stories of other children with similar conditions. It isn't easy at all and I really feel for you. Beau is 8 now and has spent a lot of her life in hospital. She remains undiagnosed but has a good quality of life now we have got through those nightmare first few years.
Please keep in touch and let me know how you get on. It sounds like you are a wonderful, loving mum and you were chosen by your special boy because you are the best mum he could possibly have.
You may like to read the poem I posted on here yesterday.
Love Kate