I was wondering if there are any other moms out there struggling to come to terms with their child's differences/disabilities when they don't know what caused them. Alex has so many little malformations and dysmorphic (I hate that word) facial features that doctors are sure he has some type of syndrome. The problem is, they don't know what one. He's been testing for everything under the sun and we still have no answers.

Alex is almost 3 and he still doesn't walk, talk or eat. He's 100% g-tube fed and while he makes progress, it is so slow. I joke that watching Alex's progress is like watching an oak tree grow.

My question is, if there are any other mothers out there in similar situations, how do you personally come to terms with something like this? How do you make peace with your child's special needs when you don't really know why? How do you not fear the future when everything is so uncertain?

Okay, these are some pretty serious questions but I really struggle with this and I don't really know any other moms out there dealing with this type of situation.

Thanks for the help.

i have no advice just wanted to send you a :hug: i dont know what you are going through sory i cant be any help

I am sorry that you have to go through this. I know it is frustrating as we have been struggling all year with wanting answers for Naomi, but still don't really know. That however is nothing like what you are going through, so I just want you to know that we care and you can lean on us if you need to....:hug:

Hi Brittany,

I for one, know exactly how you feel. Joshua also was born with a few dysmorphic features (congenital heart disease, hypospadias and 2-3 toe syndactyly) also GERD and is 100% tube fed also, and the doctors seem to think he has some kind of syndrome, but don't know which one. He has had his chromosomes tested, and tested for deletions also, as they thought he may have had velo cardio facial syndrome, or smith lemli opitz syndrome, but all have come back normal so far.

It has been a constant worry for me, and i stress about this everyday, wondering what he will be like in the future and whether he will be able to go to a normal school etc.
As if severe reflux and oral aversion isn't enough to worry about.....

Joshua seems to be delayed in alot of his development but i don't know if it just the reflux to blame, or the underlying unknown syndrome (if he has one).
I still have not totally come to terms with the fact that there might be a syndrome involved, and try to convince myself that if they can't find what's wrong, then there must be nothing! But it doesn't last for long.

I wish you all the best in trying to come to terms with them possibly not finding a diagnosis for your son, and know that you have alot of support for everyone here :)

Anne

I have not delt with it with my own child, but I worked as a nanny for a young boy who was severely handicapped and my nephew was born at 26 weeks and has CP and a variety of leaning disabilities.

Karl (the boy I worked with) was not officially diagnosed with a specific syndrome until last year when he was 13. He had many health problems when he was born and when he was about two they started serious testing, because he was not crawling, walking, talking, etc.. They determined that his brain had not developed properly and he would be disabled, but there was no way of knowing just how severally he would be effected by it.

His mother’s approach was to try everything and just see what ‘stuck’ He has done very well, but he will never be able to live on his own or care for himself, without assistance. They did genetic testing last year and he was diagnosed with Mowett-Willison Syndrome. It was a relief for her to finally be able to put a name to his condition, but it made no difference in his treatment. The syndrome has a list of symptoms but some children with it can be rather high functioning and others are severely impaired. When the brain is involved it is impossible to know what the outcome will be.

My nephew has a similar situation. He suffered trauma at birth which caused his brain to hemorrhage. All the Dr.s could say was that, the longer the bleeding went on the more damage would be done to him brain. When he came home we had no idea if he would ever walk or talk. He was not officially diagnosed with CP until he was 4. CP can also be very sever or rather minor. Blaine has been lucky and has done quite well, better then most of the Dr.s thought he would.

I can not even imagine how hard it must be to know that your child has a problem, but have no idea what it is. And to be so unsure of what the future holds for him must be terrifying. Unfortunately a diagnosis does not always mean answers. The human body, and especially the brain, are very unpredictable.

I hope you will be able to get some answers about what is going on with Alex. But even if you don't, you are doing everything you can for him now and that is what matters.

I have no advice either, just big (((hugs)))
And your little one is a doll. ;-)

I just wanted to send you some big (((((HUGS)))))) and well wishes!

Kerri

Hi, Brittany.

I can't relate to exactly what you're going through, but I noticed that you're in Naperville, IL and I work in Naperville. (I live in Oswego.) Hello, "Neighbor"!

But even though I can't completely empathize with you and the degree of your son's disabilities, I still know some of the tribulations of having a sick child and wondering how and why it happened and how to "fix" it.

Hopefully, you'll find more answers and peace SOON! :hug:

I see families all the time in this situation as an SLP that works in early intervention. It can be very frustrating to families; however, like Katey said having a diagnosis does always change the treatment they are receiving and with some syndromes the range of the severity of symptoms can vary greatly. Because of this you can't always predict what outcomes the child may have. As a therapist I look at the child's strengths, areas of need and in what ways I can improve the child's and family's overall quality of life and write goals and plan treatments accordingly. Many parents would like to hear a diagnosis b/c they think if there was one, they can treat it with this drug or that therapy but with many syndromes it does not work that way. Parents also would like a diagnosis in order to find support from other families whose chidlren have the same diagnosis (like the parents do here on this board) That can be very helpful to families as long as they keep in mind that ever child is different and not to compare their child with others even if they have the same diagnosis.

Alex has so many little malformations and dysmorphic (I hate that word) facial features that doctors are sure he has some type of syndrome. The problem is, they don't know what one. He's been testing for everything under the sun and we still have no answers.



Brittany, not to pry, but I know you and I have discussed Cornelia De Lange before and the fact that our kids kind of "look alike." What types of malformations and dysmorphic facial features are you talking about?

Christyn

Thank you all for your very insightful thoughts and support. This is a tough issue and I appreciate all of you taking the time to write back. I know that a diagnosis probably would not change Alex's care and there is almost certainly no drug that will 'cure' him but when you have a name or a reason for a problem, it's easier to wrap your mind around it.

Anne, I'm sorry to hear about the difficulty with your son. I am familiar with the syndromes your son has been tested for because I'm now a syndrome expert--researching every possibility for Alex. He sure is a cutie!

Katie, it was inspriring to hear about the child who was given a diagnosis at 13. I won't give up hope!

Christiyn, yes we have talked about Cornelia de Lange in the past and it is something not totally ruled out for Alex yet. Here is a list of his differences according to the geneticist:

Born with a VSD and ASD--closed on their own at age 2
undescended testicle--brought down by surgery
hypotonia that continues to improve with age
hairy on his body but little hair on head
thick eyebrows
long eyelashes
hairy forehead with a low hairline
very (size 4 at age 2 1/2) small feet and hands with small curved fingernails
small nose
epicanthal folds
large mouth with small teeth
smallish head but not officially microcephaly
normal MRI

:hug: Im sorry I have not been in your situation, all of my sons issues have been diagnosed.
My prayers are with you and your family...... :hug:

I have to say that I know exactly how you feel. Sam just turned 2 and he functions on about a 3 month level. He can not hold his head up or sit. He is also 100% tube fed. It had been a very long 2 years of searching for answers and getting none. I honeslty do not think we will ever have an answer and I am in a place where I am OK with that now. I have another child and I love both of my kids and we have to live our lives. Yes, it would be nice when you get the questions to say--"oh, he has......"

CDLS was brought up for Sam as well. I am lucky that the medical director of the CDLS foundation is in Baltimore and I had a great meeting with her and she did not feel very strongly that was the cause of his issues. If you have not allready joined that foundation, do so, it is a wonderful group of people and they have a ton of info to offer.

I wish you luck in your search for answers. You are not alone. We just started seeing a new geneticist at Hopkins and he is starting a clinic for kids like Sam with obvious neuro deficits and no diagnosis. So, it there are enough patients to start a clinic we are sooo not alone in this!

I can't imagine how hard it must be for all of you not to know. I can totally understand where an answer whether it helps with treatment or not would help you feel a little more at ease with everything. Not knowing sometimes is the worst! Sending you all big hugs and wanted to let you know your kiddos are all beautiful:hug:

hi brittany,

I cant totally understand all that your going through but i can understand how horrible it is to wonder about your baby everyday of your life when things are soo wrong. my baby never cried to eat and then began to refuse her bottle everyday of her life. she had no other apparent symptoms so finding a diagnosis was difficult..for months and months i put her through hell with tests and blood work, MRI, scopes,, and the doctors told me "sometimes we just dont have an answer" and maybe thats true, but that is not what you want to hear as a mother. finally after genetics testing they found that she had turner syndrome. They tell me that has nothing to do with her feeding issues.. so.. i guess i'll never know why she never cried to eat..i mean i can believe it was reflux partially, but i cant believe right from birth that was the reason she never cried. I guess you just have to hope and pray that as they grow things will improve even if its slow progress.

I don't know how we deal with not having a diagnosis. My husband and I talk about it a lot, and for us it seems to go in cycles. For a while we think about it almost constantly, get discouraged, a bit depressed etc, (that's when we tend to get cranky), and then we pull ourselves up and think as positively as we can. It seems to cycle this way every month or two. Also, our family on both sides are basically in denial and still expectiing a magical "catch up by two" which our doctors have told us is extremely unlikely.

I also struggle because we don't know how much (if any) of Anna's difficulties are a result of poor quality or not enough breastmilk (she was exclusively BF until 5 months and would'nt take a bottle). I try not to feel guilty, but I still do. We had 2 weeks of extensive testing at the Children's Hospital with no answers, and now we just wait until she's two to do another MRI in case something shows up this time.

For us it's a combination of not knowing what the future will hold (when will she eat, walk, talk, will she have intellectual delays as they are suggesting, and if so how bad, etc), and frustration at the sloooow progress (having a 17 month old that acts like an 8 month old).

After all that, we still know we can't complain because there are families dealing with far worse KWIM?

Good luck and stay strong.

As I read this I thought about NORD

National Organization for Rare Disorders.

Just wondering if you heard of that?

http://www.rarediseases.org/info/about.html

best wishes
Jean

Thank you all again for your responses. It's nice to know I'm not alone out there and that there are other families going through the same experiences and feelings. It's so true about going through cycles and phases. Some weeks I'm not bothered at all by Alex's differences and slow progress and other times I feel like I'm pulling my hair out to try and find an answer.

I have been to the NORD website. They have a great directory of syndromes/conditiones but I haven't really found anything on kids with no diagnosis. I have been in contact with an organization called SWAN, Syndromes Withoug a Name. They are based out of England and their focus is on kids with rare conditions that have't really been named/recognized yet. They have a nice website and you can register for their quarterly mailings.

Brittany- I am so sorry. This story is soooo heart renching to me. I know that we all deal with the symptoms and issues of GERD and sometimes never step back and take a look at just our beautiful children and how precious they truly are. I am so guilty of that! Your little boy is gorgeous and it breaks my heart to hear that doctors can't find a dx for him.
I truly do not have any information for you. I just wanted to tell you that I admire your strength, courage and love for your child. You truly have to be a miraculous mother.
You and your family are in my prayers.