Anybody have a child that has been diagnosed with a rare syndrome?

Michelle - posted on 05/10/2011

sounds exactly like my son at that age! Take him to a genetic specialist and ask to be tested for mitochondrial disase!

Altara - posted on 05/01/2011

They don't have a syndrome for my daughter because they don't really have any information about her chromosome deletion (7q32del) she just has a bunch of different diagnosis that are attributed to her deletion.

Holly - posted on 04/29/2011

Thank you so much for all your support, i didnt expect so many mums to be going through similar things, Olivia is now 2 and a half and she's doing so well, she was diagnosed with Rubinstein-Taybi syndrome last year, which i was kind of relieved about as i did so much research on the syndrome and everything olivia has fitted in with it, Although Olivia cannot walk yet ,talk or eat, she is the most happy lovable little girl you could meet, thanks again for all your support it means alot, all my love goes out to you and your son's/daughters as it is hard but its also the most rewarding job in the world. Holly :)

Adele - posted on 09/30/2010

Hi Holly, Please check my profile, you will see a photo of my daughter Melissa who is now 28 years old, who has Rubinstein-Taybi syndrome.

Jackie - posted on 09/29/2010

My daughter is currently losing her ability to walk. Her doctors have told us that it is getting progressively worse but without a diagnosis it is hard to predict what will happen. We have many tests to go through in the upcoming weeks and hopefully will get an answer soon.

Dorothy - posted on 09/28/2010

My daughter was diagnosed at age 4 with Intermediate free sialic acid storage disease. It is very rare in the US. Last I knew she was one of about a dozen with the disease "in that family". She has intermediate level (not severe and not the most minor) and she may be 1 of a few with that. She is going to be 10 years old next week. She was initailly diagnosed with Hypotonia at 9months then Cerebral Palsy. Currently, she can't walk/talk/sit or feed herself. She is in a wheelchair and in diapers. She can roll and crawl (combat crawl) to get around. Overall she is very happy and social. It is very hard having a special needs child. It is even harder when it is a rare disease that most routine doctors have no clue about not to mention everyone else we encounter. Good luck.
Dorothy

Laurie - posted on 09/10/2010

My granddaughter was diagnosed with Lennox Gastaut Syndrome. It's a rare form of epilepsy in children. Started out as Infantile Spasms at age 6 months but as is the nature of Lennox Gastaut her condition is resistant to all types of seizure control medications. She has definite set backs and delays. She is now 5 years old. She can walk but with an unsteady gait. No speech and fairly severe learning disabilities. She is my special angel on earth. So sorry to hear about your daughter. It's devasting when something like this happens to our kids or grandkids.

ADELE - posted on 09/07/2010

Hi, I am Adele from Yorkshire, My daughter was born healthy in March, we noticed some small blisters on her head at 9 weeks old and a tiny one on her tummy, this was diagnosed as excma initially, we were prescribed hydrocortosine cream. things got no better. then one day (she had been in car seat for a long period) and the weather was humid, I picked her up to feed her and she was covered with HUGE pus filled blisters all over her head and neck, we rushed to A and E as we were waiting the blisters were getting worse before our eyes and taking over her back, she was diagnosed with scalded skin syndrome,(strappycocchal infection) although this was the doctors guess and never confirmed.she spent 3 days on a drip we got her home and she just got worse with the blisters, we could not get any answers from anywhere, not one of the doctors at our GP practice had seen anything like it. she has had a biopsy, we did eliminate everything (car seat leather settee scented products) The dermatologist has said this is not a infection or rash but suspects a autoimmune disorder, he cannot rule out EB either, My beautiful girl has spent the last 2 months of her life wrapped in bandages as when she flares up which is virtually all the time now, when the blister pops it leaves massive raw areas, which bleed. Her neck and back are virtually always affected with raw areas, she also itches like mad (we use mitts) which causes more blisters, I dread every morning in case she has fresh blisters. she is on predmosine steroids which have supressed the blistering, to a degree she still gets them but they are smaller, and not as damaging when they burst. also antibiotiocs for infection + loadsa oilatum, and a little bit of steroid cream. I am due to take her back to dermatologist tommorrow, hopefully we will have some kind of results from biopsy, but I suspect the way the doctor was talking this will be one of many biopsys. I feel totally left in the dark, healthcare professionals are caring but i get conflicting advice concerning dressings/bathing. I now do what I belive is the best as I have no answers as yet, Are there any other mums who have has similar experiences~? I am at my wits end and just like the post above I feel like i am the only one. Any responses will be appreciated. Need advice from anyone in a similar situation, as I completly in the dark! x

Nicole - posted on 08/28/2010

hi holly, my heart really goes out to you and other moms that have posted. in ways i consider myself lucky and others not so much. some of the things many of you have posted break my heart to read.
my daughter was diagnosed with albinism. OCA1A this form of albinism( albino) comes wiht the worst visual problems on top of her skin being white and her hair being white.

she can not go outside for extended periods. we have to keep her up with sunblock all the time sunglasses and hats. more to it though is her vision she will be mostly blind. those with albinism have what is called low vision and can not see fine detail. they can see a person but they can not see the person's face unless they are standing right in front of them and are not able to see that persons eye color unless they are invading personal space. ontop of the low vision is the light factor which is blinding in it's own sense. think of when you see the eye doctor and they dilate your eyes..and intensify that by 10 that is what light is like to someone with albinism.

1 in 120,000 people have this in the US i have a 1 in 4 chance to produce another with my SO as we both have to be carriers with the same strand and 1 in 70 are carriers.

Those that have this disorder are hunted and killed in tanzenia in africa due to tribal tridition. whichdoctors make potions out of those with this condition because ignorance has them believing they are magical. they believe if thaey molest a baby wiht this genetic mutation it will cure aids. sadly most of the albino hunters do not get prosecuted. they are finally putting taking a hunter to court for murdering a 5 yr old child.
im very thankful i live in the US.

Charissa - posted on 08/27/2010

I have a son that turned 3 in March and was diagnosed with a rare chromosome disorder called 5p-. There is limited information available and we have only come across 1 doctor who has even heard of it. Things will work out even if it doesn't seem like it at this moment. You will have better luck looking for support groups with parents who have children with the same diagnosis. You will be surprised at what you find out there!

Lisa - posted on 08/27/2010

Hi Holly and everbody! I can honestly say genetics drive me crazy... I have a 7 year old boy who for the last 5 years has been through test like crazy.. So far all we know is he is delayed in gross and fine motor skills, but our bigest prob is speech. he uses only vowels to speak so a little hard a times. He is a very bright child, but i am just so tired of not having the answers. I am american, but i have lived in brazil for 8 years and thus this is where he has been tested and the process is nothing like the states. US is so much better when it comes to genetics. so far we ruled out Fragile X and now we are gonna do a CGH array. I wanted to know what test have u all done to get ur results?

Casey - posted on 09/23/2009

Hi! My son is 15 months old and they are looking at diagnosing him with Beckwith-Weidemann Syndrome, Sadifers Syndrome, and possibly Noonans Syndrome. We also have to go see a nueromuscular dr. b/c they think he has a muscular diorder as well:( It seems that children with rare cases always have more than one. Just keep your chin up and we all need to thank God we were given these precious angels!

Laura - posted on 09/20/2009

hi my daughter is 3 and has 2 rare dissorders she has salt wasting congenital adrenal hyperplasia and perthes disese in her right hip she also has a deletion on her 2nd chromosome and growth restrictions and development delay. hang in there these kids are special in so many ways and at times she is much stronger than i am so have faith in your baby and be strong fro her and it will make her stronger! good luck

Laura - posted on 09/11/2009

Hi, my name is Laura and my daughter Katelyn was diagnosed in utero with a partial deletion on chromosome 18p. Like so many of you, it is hard to find anyone with her same diagnosis. Fortunately with some research on the internet I found one organization called Chromosome Disorder Outreach or CDO. It is based out of Florida, but they are amazing and they are a support center for some of the most rare chromosome abnormalities out there. I also found out that the University of Texas has a whole department dedicated to abnormalities of chromosome 18. So those of you who think you are alone, reach out, there are so many of us out there. Maybe not with the same exact disorder your little ones have but does that really matter. All our babies are special and we can be there for each other. So far my Katie is developing all right. They don't really know the extent of her developmental delays yet. She is only six months old on Monday. She is going for a developmental evaluation in a couple weeks. Wish us luck. My thoughts and prayers are with all of you and your beautiful, special children.

Cheryal - posted on 09/10/2009

Hi Holly,



My little man has Neuromigrational disorder.

Barbara - posted on 09/08/2009

Hi Im new here. I have three children who have a mitchondrial myopathy with a lipid storage myopathy with a fatty acid oxidation defect. But what the disorder is the doctors dont know. My children are 13 11 and 9. We have been doing testing since my son who is 13 was 2 1/2. There genetics doctor actually had one of his residents write up the children's case history and smitted to the American Acedemy of geneticts to get published to determine the disorder If they dont find one we may become our own syndrome

Cheryl - posted on 09/08/2009

Quoting Francine:

does anyone have a child with

 AGENSIS OF THE CORPUS CALLOSUM

PULMONIC VALVE STENOSIS

 DELETION OF CHROMOSOME 3 

FOCAL SEIZURES

 

Nicole - posted on 08/04/2009

my daughter has a deletion of the short arm of her 16th chromosome 16p11.2. there is a website www.rarechromo.org that may help

Melissa - posted on 08/01/2009

hi. I know how you feel. My son doesn't have what your child has. But he does have alot of rare condition. My son is allergic to LIGHTs and to the SUN

Lorie - posted on 08/01/2009

My son Matthew has a clinical diagnosis of Snyder-Robinson Syndrome. We are waiting on some testing through the research grant he is part of to have confirmation of this diagnosis. I believe there are only 17 boys in the US that currently have this syndrome.

ToyNera Crystal - posted on 08/01/2009

ANYONE RECOGNISE THESE SYMPTOMS???
I'm still trying to get a diagnosis for my lovely lad. He is 4 years old now. What we do know is that he is developmentally 2, not 4, has cerebral atrophy (his brain shrank to around half average size at some point for some reason), has had 2 sub-dural haematomas (bleeds into his brain), multiple arachnoid cysts, autism, ataxia (lack of muscle control due to abnormal brain activity eg: he is finally walking-YAY, but is very wobbly&has a very hard time trying to get his hands to work well).
He also had Epilepsy (I say had because he hasn't had a seisure for 2years now because he is on the ketogenic diet, which really helped his brain work better too-started sitting up by himself within 1 week on the diet when he was nearly 1 and a half!!).
He is tube fed because he vomited day and night for some unexplained reason until he was 2 and a half and had refused to eat from about 2 years old because he thought food must mean vomiting. (Has finally started to try a few things again 2 years later YAY!!).
He looks like an average child, perhaps prettier than most (kids with autism often have an angelic appearance) apart from a big dent in the back of his head where his brain didn't fill out his skull and he spent far longer than average laying down.
The neurologist thinks maybe he has a metabolic condition, but every screening comes back negative. We seem to have answered every question and had every test done multiple times. If anyone recognises these symptoms, please, please message me!! Thanks for your time. I know we're all busier than most. Warm smiles to you all.

Cheri - posted on 07/30/2009

Hi all of you special mums! My 8 year old daughter has a very rare disease called congenital muscular dystrophy merosin deficient. I can sympathise with all of you and I know how isolating it can be. I was lucky enough to become involved with an organization called the SMILE foundation (http://www.smilefoundation.com.au/) and we are and Australian organization set up specially to help those families who have children with a rare disease who are doing it tough financially. (which I think covers most of us!) I run their Family Relief Program, so if you think you might be in need of some assistance and are an Australian Citizen or Permanent Resident and your child has a rare disease or condition then ask your social worker about us, visit the website, or msg me on Face book and I will give you my number and I can tell you all about it even if you just feel like having a chat with someone in a similar situation! Take care of yourselves. Cheri

Carmen - posted on 07/28/2009

i know how you must feel I have a son born with a condition known as ring chromosome 18 very rare even for some doctors.

Becky - posted on 07/28/2009

We are awaiting test results for my 6 month old son. The test is for aarskog syndrome, which is rare. The test has been sent to Italy and we will have to wait 3 months for the results. He also suffers from benign torticollis of infancy ( a bit like baby migraine where eppisodes of his head being severely stuck to one side and his body curved like a banana, can last any-where between 10 mins and 2 months), which is also rare. He also has short long bones and hypospadias, which will require 2 operations. When I was pregnant they thought he would have Downs or Dwarfism and at one point thought part of his brain was missing and we were offered termination! He is reaching all his milestones (though I am much more obsessed/paranoid than I was with his 2 sisters). Initially I was worried he may have a life-limiting condition but as he's thriving I now just want to be as prepared as possible so that I can get him all the help he needs, if any. He has had many tests since being born and they all take ages to come back with results. I am trying to enjoy my son for the bueatiful unique person he is.There is support out there as this site clearly shows. Best wishes to you and your daughter.

Tegwen - posted on 07/28/2009

If any one dose have a child With Coffin-Lowry syndrome please feel free to contact me

Tegwen - posted on 07/28/2009

hi i have a sone who is now 15 he has coffin-Lowry Syndrome its a rare Genetic syndrome with only about 400-500(maybe less) knowen cases in the world we like you all went through the heartace of dealing with the diagnocis allthough it took us nearly 5 years with no answers before we finaly got a name for our son's syndrome we had our suspitions from very early on that somthing was not right and from 9 months old we had dr's on the hunt to find out what was up! it was not till he was about to start school at age 5 we had a name for his condition! and allthough he is at a special school he is intergrated into a program at a normal secondry school part of the time we have had a tone of special moments with him over the last 15 years learning to comunicate with him as he has little speach yet is able to make himself understood! we are So blessed to have been chosen to be his parents which i thank God for!

i wold like to all so pass on my congratulations to all of you other special chosen parents out there & bless each and every one of you for being part of the special make up of all those special needs kids you have may thay be as much of a blessing to you as my son has been to our family as thay make your life so much more special than any other family.

Aimee - posted on 07/28/2009

My son has Galactosemia and would love to hear from anyone else who has kids with this as we are having problems with him at school and what to know whats normal or not

Laura - posted on 07/12/2009

Hello,
My son is 7yrs old he was diagnosed with Takaysus Arteritis (TA) Febuary 2009. It is a rare disease it is an autoimmune disease where the immune system attacks his body (arteries) it acts as tho his arteries are a foreign body that is tries to get rid of. Every year 2-3 new cases of TA per million Americans are diagnosed. It has already shut down one of his kidneys by attacking his Renal Artery and that was when he was four. I also feel as if i am the only one so please write to me if you want. I will also keep everyone on here that is dealing with rare disease and syndroms in my thoughts and prayers. Thank you! ~ Laura~

Lisa - posted on 07/10/2009

hi holly my son was diagnosed when he was born with vlcadd (very long chain defiancy disorder) he can not eat anything with fat like fried food french fries NO. he can have 10 grams of fat a day. it is very rare 1 in 125,000 but he eats very healthy.

Erin - posted on 07/09/2009

My son has something called "DiGeorge Syndrome." The syndrome itself isn't rare, but my son's version of it is very rare. There are only a small handful of children in Southern California who have "Full DiGeorge Syndrome." He had intense open heart surgery the week he was born (he almost didn't make it, but my little man's such a fighter. He was on an artificial pump for three days, and was on a ventilation tube for almost two weeks) and has other medical problems. As far as future heart surgeries go, we never know what to expect. He could be completly cured, but he could also need future surgeries to keep his heart repaired. I take him to the cardiologist about every six weeks. I also have to take him to the immunologist, endocronologist, g.i. doc, and possible some therapy, depending on how his development goes. He's doing considerably well. His doctors can't believe he's managed to stay out of the hospital for so long, though we've had to bring him to the e.r twice last week, for fluids due to diarreah. A cold would be simple for someone like you and me, but for him it could be deadly. His problems require a ton of medical attention. It is so nice to meet other parents with these types of situations. It lets you know you're not alone.

Heike - posted on 07/04/2009

My cousin was born with RTS, They had to wait over a year for a diagnosis because testing took so long. He is two now and doing wonderful! If you would give me your e-mail I will give it to her so that you can keep in contact.She doesn't have facebook. She is a great resource when it comes to special needs children and she knows everything about RTS, I have a son with a rare heart defect and she helped us out with our long hospital stay.

Angela - posted on 07/03/2009

Hello!!! my name is angela and i understand the feeling of being lost.. My son has a condition called opitz adn also adhd and autism i take one day at atime. he was born at 31 weeks at 2 lbs 11 ozs and 14 1/2 inches long. we have had 8 surgs and are on 10 meds aday. we have started the gfcf diet and are getn off some of the meds life is never dull.. i love my little man with everything i have and will do WHAT EVER it takes to keep my lill man safe and healthy!!!

Jamie - posted on 06/13/2009

It's so hard to take it when they say that it's so rare. My daughter has acardi syndrome. There are only a couple hundred cases world wide since the 60s it's hard to except. They say she will only live till she is ten yrs old. I don't think thats right.

Alisja - posted on 06/13/2009

Hi my son has Fibular Hemimelia - was born with a little flipper for a foot and some bones missing in his leg. He has had his flipper removed and now has an artificial leg.

Its about 1 in a million births apparently.

Jamie - posted on 06/12/2009

Thank you i will.

Lisa - posted on 06/12/2009

kristy- reach out to the children's rare disease network... www.theprojectcharity.org
this is a community of families that are going through the exact issues you are going through... also, you can reach out to nicole boice who is my partner and the founder of this organization.. i grew up in a family with rare disease... after years of the unknown we got a diagnosis... good new- bad news as it was. this is not only frightening but also extremely isolating. there are tons of "new friends" that are willing to offer you help. www.theprojectcharity.org - The Children's Rare Disease Network. warmly, Lisa

Lisa - posted on 06/12/2009

Hi Holly- I wanted to reach out to you and let you know that I work on a team that is working with rare childhood disease- you can get a ton of helpful information there- and reach out to my partner Nicole Boice who can direct you to some specific answers- the website is www.theprojectcharity.org and they have The Children's Rare Disease Network - you can also email Nicole directly at nicoleb@theprojectcharity .... They are also posted as a community on facebook under both the project charity and the children's rare disease network... there are millions of parents that experience what you are going through and are more than willing to help with everything- warmly, lisa rieden

Jamie - posted on 06/12/2009

Yes my daughter is 9mths old and has been diagnosed with aicardi syndrome. There are mybe only a couple hundred cases world wide so i'v been told by the docs. They can't prove that she has it and can't say she don't. So they just say she does.

Dianna - posted on 05/31/2009

Quoting Maxine:

hi , im new to this site, my 15 month old son was diagnosed with congenital vertical talus at birth, it is quiet rare and so difficult to find parents whos child has the same condition.

Well now there is another mother out there who knows what I went and continue to go through! yeah!! my daughter had a rare condition called Trismuscamptotridactoly syndrome. she has shorthened tendons in her hands, mouth and feet. She also has Vertical talus problems she is 9 and was in her first set of casts at the tender age of 1 month. hse has had many surgerys and has had a few injections of botox to help lengthen the tendons. when she was a few months old they cut her foot and turned one of her bones to a horizontal position. currenttly she is in splints and walking ok. she still has a rocker bottom foot but I don't care at least she is walking. when she was born her toes touched the front of her calves. any questions feel free to add me and I can answer for all that I can.

Christina - posted on 04/19/2009

Hi, I have a 19 month old daughter who was diagnost with a rare heart defect when I was 20 weeks pregnant. Its called Hypoplastic Left Heart Syndrome, half a heart. She had her first surgery at 4 days old, her second surgery at 5 1/2 months old. She will have her third open heart surgery between the ages of 3-7. At 2 months old she went into cardiac arrest twice and suffered sever brain trauma causing two strokes. She is now 19 months old and his home enjoying her life. We struggle with developmental delays, mood disorders, and feeding issues (gubbton) but we wouldn't change her for the world!

Christina - posted on 04/19/2009

Is your son in any physical or occupational therapy to help him learn how to sit up and crawl. They can also work on his muscles too so they don't get weak and cause more problems. For the crying you should be able to talk his pedi about possibly putting him on a mood stabilizer that might help control his moods a little more so that you can regain your sanity and he could be a lot more happy. My duaghter has some of the same issues due to a brain injury, if you have any questions just let me know:)

Amy - posted on 04/16/2009

My son is pretty rare, actually he is the only one in the world with combination of brain anomalies and syndromes that he has. It is scary that's for sure and I know what you mean about feeling alone. Feel free to message me anytime!
www.chancesvision.com

Megan - posted on 04/15/2009

My son doesn't have a syndrome per se, although that might make it easier. He has what they call unbalanced Translocation of his 5th and 10th Chromosomes. It has caused numerous problems and numerous surgeries. And I keep getting the phrase from the doctors "We'll have to wait and see what happens" I am sure you have heard that one too. But you are not alone. I feel that way most of the time so all I can say is don't be discouraged and remember that although this is tough now when your baby girl reaches her developmental milestones it will be even more exciting.

Jessica - posted on 04/14/2009

My son was born "TYPICAL" but after leukemia and a bad bout with sepsis that lead to him coding, he was diagnosed with hypoxic ischemic encephalopathy or HIE.  I dont know that it is technically "rare" but it is listed on the rare list.  They told us whatever happened with in 6 months was all the improvement we will ever see.  But 2.5  yrs later he is still improving.

Sarah - posted on 04/14/2009

Hi Holly, My names Sarah and my eldest Son Lucas was Diagnosed With Tuberous Sclerosis Complex (Tsc) At just Six Weeks Old. I myslef have it but cant say that it affects me at all. This Condition Causes Tumours ( non Cancerous ) to Grow within the Brain, eyes, Heart, kidneys, Lungs and Skin. Lucas had his right eye removed at seven months due to his eye Hemorraging from the Tumour he has also suffered from Inftile spasms and now has Global Delay. However even though he does not talk words or walk by himself yet he is a Overcommer, Aslong as you be the best Encourager for your Child not matter what the Doctors say theres Still hope. there always is.

Maxine - posted on 04/14/2009

hi , im new to this site, my 15 month old son was diagnosed with congenital vertical talus at birth, it is quiet rare and so difficult to find parents whos child has the same condition.

Karen - posted on 04/14/2009

My daughter was diagnosed with RTS at age 5...which was 15 years ago.  I felt very much alone when she was a baby because she couldn't do most of the things my older, non-RTS child could do at that age.  Things will get better...but for a while, it will seem overwhelming.  How are your daughter's medical issues?

Trish - posted on 04/13/2009

Hi Holly, my son was diagnosed last year at age 14 with a rare chromosome disorder, multiplication on chromosome 1p, that is so rare there are only 12 known cases of it worldwide and not much literature on it. Drs dont know much about it, and when I take him for tests or evaluations, they seem to not know what to do. Hes had some physical problems, nothing serious, but one in particular he is supposed to have surgery for, but the drs dont know for sure if they should go through with it or not, because they are not sure if the chromosome disorder is causing the problem or not, and they dont want to do the surgery if its not going to help, of course. Hes also had a lot of problems learning, and the public schools wanted me to medicate him for adhd, which he doesnt have, and they are insensitive to the real condition he has. they seem to want to just lump him into a category and they treat him like a sort of annoyance. It just breaks my heart. It has been a very frustrating and scary journey for all of us, especially him, over the past year since the diagnosis, since not much is known about it and we all dont know what lies ahead in the future. I wish I could get some answers, but I dont even know where to start.

Kelley - posted on 04/09/2009

Hi Holly. I have a 4 yr old son who has a very rare chromosone abnormality called 18psubtelnumeric duplication. From birth we knew something was up and i have to admit that the waiting is so very hard. I constantly questioned how my son would develope and unfortunetly the geneticist couldnt give me these answers. Now I can tell you he is the sunshine in my life. He reaches all his milestones eventually. His speech is coming and he is so socialble and loveable. He could also buy and sell ya. I wouldnt trade him for the world. God wouldnt give us someone he didnt think we could deal with. Stay positive and remember that your strengh will come to deal with this with time. Take care.

Linda - posted on 04/08/2009

hi there holly my 3 year old daughter has just been diagnosed with Ehlers danlos syndrome i hope that your daughter get all the help and support that she needs and good luck  im here if you need to talk to any one x .