For the past year I have seen a decline in my son's mobility. He went from a vibrant toddler to falling all over the place. Two weeks ago, the day after his 4th bday, he fell down the stairs and cut his eyebrow. He needed stiches on his beautiful face. I want nothing more than to take this away from him and wish to God and the Heavens to give me the disease instead. He had an MRI done in early February that showed the white matter missing. The docs soon began testing him for everything under the sun. Long chain fatty acid tests, urine, some other bloodwork, his optic nerves. They all came back normal! So I celebrated thinking he was fine. Last week the neurologist and genetics doc said they are not going to rule out leukodystrophy and want to test him for other things. He will need another MRI in September. He is starting Physical Therapy this week and in 2 weeks we have an appt. with a demyelinazation (spelling?) specialist for a second opinion. I am overwhelmed with fear and frustration. I love my son and will go to the depths of the Earth for him but all the horror stories I hear is a huge blow to my faith and hope. I don't know what to do, what to expect, how to feel. I can't stop crying. I cry uncontrolably at work. I WANT TO SEE MY BABY BOY GROW UP!
Already a member? Sign in
Welcome to Inspire!
What - Inspire is a place where you can connect with people who share your health concerns and find information and advice in groups sponsored by organizations you know and trust.
Why - As a member you can use Inspire to let friends and family know how you're doing, contact others who share your health concerns, receive personalized updates and information about participating in surveys and clinical trials, and more.
How - Joining Inspire is completely free and usually takes less than a minute. Join now!
FRUSTRATED!!!!!!!!!!!!!!!!!!!!!!!
- By myjoshiebaby
- Posted June 29, 2009 at 10:51 pm · 16 replies
- In Undiagnosed - White matter disorders of unknown origin (UND)
- Shared with the public
Explore topics in this discussion:
Rhabdomyosarcoma Cancer Leukodystrophies Pain Nystagmus Seizures Physical therapy Leukodystrophy
16 replies
- Oldest first
- Newest first
- By myjoshiebaby
- Posted June 29, 2009 at 11:07 pm
- Report post
You know it's not easy. No one ever said life is easy. However, you do your best to prepare for life... school, marriage, home, beautiful children. You help others in need, and even wear clean underwear like your mom said. Then you get news that your child, the very child you brought into this world and vowed to protect and cherish all the days of your life, is really sick. It just blind-sides you. It kicks your butt. The news just kicks your butt. I love my son endlessly but I am afraid and devastated for him.
- By sjm
- Posted June 30, 2009 at 9:46 am
- Report post
I am sorry. My sister just lost her beautiful little boy and it is devastating. We are all very worried about her as well as trying to come to terms with it ourselves. Life can be very hard especially when you see a child struggling with such a cruel condition. I wanted to scream and shout and take it away too, I know what you mean by blind sides you, I felt like I had been hit in the face in the stomach and there was know escape. Searching on the internet for info and slowly building this picture that the doctors were so slow to come by and then found that there was know hope for my nephew. I am sorry. You have to push the doctors though and keep trying because sometimes with these leukodystrophies there are treatments and options if you can find the type of leukodystrophy soon enough, which we didn't. I hope you find some answers soon.
- By myjoshiebaby
- Posted June 30, 2009 at 9:55 am
- Report post
May God bless your family during these terrible times. It's not true what they say, that time heals all wounds.
- By sjm
- Posted June 30, 2009 at 11:33 am
- Report post
Are you in a position to go to the conference on Leukodystrophyies coming up soon. A lot of parents recommend it as there will be experts from all over the world that know about leukodystrophies and maybe you could find some answers. Was your son's blood work sent to the KKI? My nephew was misdiagnosed and we lost precious time. I would not wait until September for another MRI or to speak to specialists, if that is the case and I know it is not my business however, I know that doctors have a lot of patients and can have a tendency to say things like "come back in four weeks and we will see how things are going" We found that we had to start phoning and pushing to get info and help from doctors and that sometimes they really didn't want to deal with us.
- By Calebs_Nana
- Posted June 30, 2009 at 4:19 pm
- Report post
Hello Joshie's Mom,
I know exactly how you feel. We began noticing little things in my, now 7 year old, grandson when he was about 3 or 4. It took us around 2 years of pressing doctors for answers before they finally did an MRI which found what they thought was a brain tumor. We were sent to St. Jude Children's Research Hospital where they discovered last June, after 6 weeks, that it was Alexander's disease. Our hearts are so broken and our faith is being tested as never before... Little Caleb is such a darlin' and I can't bear the thought of losing him. I've been a pastor's wife for over 30 years and have fought many spiritual battles, but have never fought a battle like this. I remind the Lord every day that I am standing on His Word, for it's true. And His Word tells me that Jesus bore the stripes for our healing at the same time he was shedding his blood for our sins. I remind Him that His Word says "By His stripes we are healed". I don't know what God's plan is for us but I do know that I am leaning on Him and that "the joy of the Lord is my strength." Even when I don't feel strong I stand and rely upon Him. Remember...when the storm was the strongest, when the fire was the hottest, when the lions were the hungriest, and when life had even snuffed out, our Lord was there to calm the storm, to walk through the fire, to close the lions mouths, and to raise from the dead.
Let's get up every morning thanking Him for the day and trusting Him to take care of us.
- By samshdls
- Posted June 30, 2009 at 9:23 pm
- Report post
Do not give up your faith. It is hard to find a reason for why this is happening to your beautiful son.. and I am not going to tell you that you will not ask that everyday, you will. Whatever the disease, whatever the path that you are on with your adorable son, God will protect you.
I began the process of saying goodbye to the man that is my husband of 32 years, four year ago. I am now watching the last stages of an adult onset type of Leukoencephalopathy, steal him away. For one year I yelled at God; my anger at Him was intense.
I did not undestand why this was happening to my husband. He was not sick with anything serious, one day in his entire life, until this hit him four and a half years ago, at the age of 47.
If I can share anything with you to give you comfort, while you are in this phase of discovery it is this. "The Will of God, will not take you where the Grace of God will not protect you". When God closes one door, He makes way for another to open. When the test results begin to roll in, do not get discouraged; eventually you will have your answers. You will go through very difficult days, you will cry and endure. But, I promise you, you will have blessings, if you hold tight to your faith. You may not get the answer to prayer that you want, then again, you just might. God works miracles all the time!! Pray for them with ardor and strength. Have an open mind and open heart and the blessings will flow to you.
These things I know from experience. I will add you and your son (family) to my prayer list.
Rest when he rests and sleep when you can. Stay strong for him, and eat a healthy diet. Most of all, do not open your eyes in the morning without asking God to give you strength for the day, and do not close them at night without thanking God for what He has done for you.
Lisa
- By myjoshiebaby
- Posted June 30, 2009 at 10:19 pm
- Report post
Lisa,
I am sitting at my computer reading ALL of your replies and crying. I am going to print what you have replied to me keep it close to me. Everyone that has replied to this, has touched me in a way I can not describe. Thank you all for your support. Lisa, you are right, this is the hardest test to my faith I will ever know. When I see his smiling face, I know what my purpose is in life. I am going to do exactly what you suggested. Pray in the morning for strength and pray at night for thanksgiving. God bless you ALL during your own ordeals. For you to take the time to reply to me shows the wonderful character you all have.
- By myjoshiebaby
- Posted June 30, 2009 at 10:21 pm
- Report post
Oh one more thing. The annual conference is being held here in IL which is where I live. I want to attend sooooooo much but I am not sure if I can come up with $500.00 that soon. Its not like I could put it on a credit card. Any suggestions?
- By jolocny
- Posted July 1, 2009 at 9:07 am
- Report post
Call them! They have offered 'scholarships' in the past and may still ... please go to this conference because you'll get answers and meet people in the same circumstances.
God bless all of you!
JoAnn
- By MBA28
- Posted July 1, 2009 at 1:06 pm
- Report post
We can all identify with your feelings since we have to contend with the same issues regarding this horrible disease. Our daughter is in her 40's because they discovered that part of her defective gene is still working properly, however, we continue to see subtle regression each year. She started out being very similar to her brothers and sisters, but has regressed to a walker and electric scooter. Her speech is now very hard to understand. Unfortunately, for some of us, there is no treatment and certainly no cure. All we can do is take this "one day at a time" and pray that the researchers come across some type of treatement that will benefit our loved ones.
- By gannymom
- Posted July 1, 2009 at 11:37 pm
- Report post
my heart goes out to you. My daughter put it well when first told her 3 year old "probably has leukodystrophy". Sometimes death feels imminent though it is not, not near at all, It's the "loss" of the dreams and hopes we have for our children when they have the difficulties we all experience. It seems awkward to feel loss for things hoped for, when you still have a lovely child who needs you to enjoy them now, and for who they are. this grief is normal, and will certainly come and go, His Grace really is sufficient. We are on the good side, and though it may even feel like a spiritual battle, satan has already been defeated for us, find your strength, and when you can't, God's word says the Holy Spirit groans on our behalf. I've done my share of groaning. Trying to get test results, doctors who don't follow through, then my other grandson has just been diagnosed with a cancerous tumor in his abdomen, Rhabdomyosarcoma, everyday of treatment is a struggle, but there is hope for a cure after 43 weeks of intense treatment. I just thought had wouldn't have to deal with something like this after his mom died when he was 2 1/2 with colon cancer. He isnow 4 1/2. Soooooo, spend your energy wisely, moving forward, comforting, searching, not too much time questioning. May God Bless, Bless you and Bless all who come here for support. It has surely been full in these posts. Thank you all.
- By JOSHYSMOM
- Posted August 11, 2009 at 11:38 pm
- Report post
We have never met but yet we share so much. All of us struggle watching our loved ones suffer, all of us wish we could take it from them, we all want answers and cures, today. I watch my 8 year old son play on the floor, he can only sit up a short time now, most of the time he's flat on his belly. He used to run and play. his speech is hard to understand, he uses a power wheelchair to get around, he cannot crawl anymore or use his walker. He just developed nystagmus. We have gone to more therapies and dr. appointments (you all know what I mean) and yet he is so happy. I know the peace of my Lord Jesus is on him. God really does support us. I don't know why my son has to go through this or why I was chosen to go along through this with him, but I know He gives us peace and strength beyond all understanding. There are moments when I just get so tired, he's 55 lbs and stiff so picking him up is a workout but I just keep asking for strength for the day and He keeps giving it. There will be a day when our questions get answered and we see the big picture. Those who are suffering will be rejoicing more than we can imagine. I pray that cures will be found for all who are suffering but if not there will be glorious day in heaven and we will all meet there.
- By mason5852
- Posted August 12, 2009 at 9:00 am
- Report post
I know how horrible you feel. My daughter was diagnosed with leukodystrophy as well back in April of last year after she had a second 30 minute seizure and a third MRI. As in your situation, my daughter has had more tests done than I can count. She just had a test done to have her tested for Alexander's disease on June 29...we are still waiting for these results. She has been tested for several different Leukodystrophies as well as for different Mitochondrial diseases and every test she has had this far has come back normal. My daughter absolutely hates going to ANY doctor at this point because she is afraid she is going to get needles stuck in her. It is very scary and I can totally relate when you say you wish you could get the disease instead of your little one. I have said that same thing several times myself. It is very hard seeing your little one suffer...my daughter has been vomitting daily since April 14...they have said that this has become a daily occurance b/c she has a lesion on her brain stem. I am at the point that I don't know that I want a positive test result on her condition b/c I know what the outcome is...I would prefer (I think) to just keep no having an answer...b/c at least that way it may just be something going on that the doctors have never seen before and the outcome is unknown.
- By hope4b
- Posted August 12, 2009 at 10:11 am
- Report post
Good Morning Joshie's mom,
My heart continues to ache everytimes another family joins us. We can all understand your fears, pain & anxitity.
I agree with sjm, keep on the doctors, don't wait long for appointments. Definately go to the conference, it will have a big impact. I've met wonderful families & doctors I wouldn't have if I didn't go.
Remember to take care of yourself, Joshie needs you.
I have a son whom was diagnoised with Alexanders at the age of 9 years old. Because I went to the conference I met Dr. Vander Knapp from the Netherlands & she agreed to look at my son's MRI's. We had some done as early as 18 months old (which were read to be normal) but when Dr. Vander Knapp looked at them, she said he did have it then. I want to tell you all cases are different. We are very blessed. My son is doing so good. No meds, not many symptoms, and he plays sports for special olympics. He walks, runs, jokes, eats on his own, dresses himself, does his own showering and so on. Early on he had seizures, he tripped alot, he chokes a bit, and we did recently find out he has a slight case of scolliosis.
I guess what I am trying to say is, don't loose hope, faith or love. Miracles do happen.
You and your family are in my heart & in my prayers.
Amy
- By miraclesofGod
- Posted August 12, 2009 at 6:09 pm
- Report post
hello i was going through the same thing with my little girl right after her eye operation she started to fall and stopped crawling and walking and we waited about 7 months to finally the genetics came with the diease metavhromatic leukodystrophy and its only been 07 22 2009 that she was diagnosed and we both are devisated and every day i wait for the miracle of god and i am so sorry to hear of what you and your baby boy are going through but i prepaired my self for the worse and prayed for the best maybe he doesnt have this mld but have lots of faith in the lord and pray to him. he will hear you. my daughter now cant talk anymore, walk, sit alone or even hold her head up and it is killing me every day to go through this with her everyday. on friday 08/14/2009 she is having a operation for a g-tube placement and i am going crazy but keep your head up and hold your baby tight and give him lots of love and kissed everyday hope to talk soon God bless
Add to the discussion