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15 month daughter undiagnosed

cjackson
  • By cjackson
  • Posted May 22, 2008 at 11:44 am · 22 replies
  • Shared with the public
0 Recommendations

Hello everyone, I was just wondering if any one can relate!! I have a 15 month old daughter who is my specail fighter! She has had feeding issues since day one. She has a unknown leukodystrophy, and infantile spasms. She has had a muscle biopsy, spinal fluid taken, and blood work left, and right. Her newborn screening test was even sent to the Netherlands!! Everything keeps coming back normal which we are blessed for but then it puts us back at square one! She now has a gtube/nissen procedure and is seen by pt, and speech. She is unable to really do anything like crawl, roll over, make sounds. She is such a strong little girl and I am truly blessed to have her in my life. I would love to hear from anyone that can relate!!

Explore topics in this journal entry and replies:

Infantile spasms Cockayne's syndrome Leukodystrophies Surgery Scoliosis Pain Failure to thrive Rare diseases Trichothiodystrophy Leukodystrophy

22 replies

AmyC

I can relate as I have a child who is undiagnosed as well. Ed already told you about SWAN USA. So I will just add to that. If you want to connect with other families who have a child who is undiagnosed, you should join the email group. There are well over 200 members on it, I am one of them.

My daugher is now 11 and was born very small and microcephalic. She had a hole in her heart and has malformed ears. This is only a small portion of her big list of signs and symptoms.

Amy C

NGlassman

Hi-
I write only to offer that there are many others out there sharing the frustration of struggling to secure a complete diagnosis. Our sweet Sarah (my granddaughter) had difficulty holding down baby formula. She had "failure to thrive" (didn't gain weight), and was unable to turn over, crawl, or speak. After many tests, hospitalizations, a liver biopsy, and genetic testing, we found our answer (Niemann-Pick Type A/B). At 16 mos. now she is like a small infant. We treasure every day with her, wishing the outcome were to be different, but glad to have information. I know nothing about leukodystrophy, but it sounds as if much of the baby's difficulty relates to that condition. I hope you continue to gain additional information and find that some of the issues will be treatable. Our thoughts are with you.

RyeMom

Hello,
I am in the same boat with my little 4 year old girl. She started with Infantile Spasms at almost 3 months of age. We've been to Genetics, Metabolics, Neurology and Johns Hopkins and still no diagnosis.
She is like a newborn, only she still cannot hold her head, cannot smile, cannot cry, cannot sit/roll/stand, cannot track with her eyes, cannot move really. She's had many surgeries because we are trying to fix things that keep breaking just to give her quality of life since she still is undiagnosed. She's had a tonsilectomy, adnoids removed, sinuses enlarged and nerves cut behind her ears just so she would post-nasal and salivate less since she can't swallow and she keeps getting aspirated pneumonias. Then, she had an eye biopsy to test for metabolical disorders, then hip surgery on both dislocated hips, spine surgery (growth bars) to help her 77 degree scoliosis curve, she will have eye surgery since her eyes are so drifted apart due to extreme low muscle tone, and she has a trach since she cannot swallow and aspirates everything. She is a tough one and we love her to pieces.
I know it's so unacceptable to have children suffer with no answers. It just doesn't seem to be fair.
Your daughter is a tough cookie and was born with the fighting instinct for a reason. Good luck

msdmom

I know some of your frustration. My daughter, now almost 32, was reaching normal milestones until 18 months. She gradually declined over the next six years and was in a wheelchair by age 7 1/2. Through the persistence of many wonderful doctors at NIH and National Naval Medical Center (Bethesda MD), she was finally diagnosed with Multiple Sulfatase Deficiency. The news was not good. The prognosis was poor--she would probably not live past 17. But because of excellent medical care, etc. and much prayer, she will soon be 32. She is blind, profoundly mentally retarded, needs to use a gastric feeding tube, and uses a wheelchair. She requires a lot of care but we are thankful that she is still with us. She is such an important part of our family.

hudels2

My name is Richard,I read all of these messages and it upset me to hear about your childern.yes i know our kids is in gods hands,if you need my support you got it.Just like me and my wife ,we need all the the support that you can give us.I have 2 e-mail addresses this one,and ,richardlastnamehudelson@yahoo.com and also hudels2@core.com.Ps I would like to hear from you,Also my number is 205-633-4360 and my grandson is very sick and he is about 2 years old.

lexismom

Hi! I too can relate to your situation. I have a six year old daughter that started having problems at age 14 mths. It took us about a year of on going test before she was finally diagnosed with a rare form of Leukodystrophy (CACH). It took me a while to stop being mad at the world but I realized God put this special child in my life for a reason. She is my inspiration and my hero. She has gone through so much in the past 5 yrs, but she continues to fight and keeps on smiling. I know it is hard to see our children suffer, all we can do is put it in Gods hands and he will do whats right for them. I will keep you and your daughter in my prayers! Sherry D.

thejae

Absolutely...there are many of us out here who can relate. As I read the previous replies, I am reminded that I am not alone, and neither are you, though we often feel like we are, don't we?

My son David was born full term 3 pounds, failure to thrive, floppy, low-set ears, triangular face, small hands and feet, extra webbing between some of the fingers and toes, and a cafe-au-lait spot on his abdomen. At 4 months, he was mis-diagnosed with Russell-Silver Syndrome, but by 3, that diagnosis was thrown out, and we did not have his correct diagnosis until he was 8 years old. David has two kinds of chromosome structures in his body, and it is incredibly difficult to detect unless the skin is involved. And, on top of that, the 2nd population of cells has an extra chromosome on every pair, giving him not 46, but 69 chromosomes.

David didn't sit up until he was 2. He never walked. He's non-verbal, wears diapers still at 25 years of age. His mental capacity is that of a 17 month old baby.

He has been a wonderful part of our lives, but his condition has also brought a lot of hardship and isolation for our family as well. Very often we have witnessed the world have community right in front of our eyes, while we sit in the background, watching, without anyone knowing, or seeming to care, that we were there.

God does have a reason for having these children in our lives, but, after 25 years, I've come to realize it is not only wonder and joy, but a mixture of joys and heartaches. When David is in public, many people are delighted with him, but the public does not understand what we go through, or the full nature of our needs, and so we also experience a great deal of misunderstanding, judgment, and isolation. They don't mean to be that way, they just have lives of their own to live, and their advice is based upon their experiences with their normally developed children.

I looked up your child's diagnosis in terms of the leukodystrophy, and saw that there were support organizations listed. Very often, those kind of organizations do not give the kind of hands on support that you and I need. But here is the link, nonetheless, that has several support organizations listed:

http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

My guess is that you have already been in contact with those agencies, and that you need real, one-on-one, face to face interaction and compassion. Is there a local church in your area that has a disabilities ministry? Many churches across the country are beginning to see the need for reaching out to the disabled community, and some have programs for the disabled and their families. It is not everywhere, but it is a growing movement, sparked by Graceview Baptist Church in Tomball Texas. They teach churches of all denominations how to reach out to the disabled community, through seminars, and training, and more and more churches are stepping up to the rising need.

I do pray that you find support in your community. And I pray that you have friends and family who will be there for you, to just have lunch with you, or come over for coffee, or to help you fold clothes or just let you rest while they care for your baby for a while. In these infant years, we get so tired, and need that kind of hands-on help. Don't be shy about asking for it, or accepting it when it is offered. One day you can be there for someone else, but right now, you are the one who needs a little extra TLC every now and again.

Take care, and rest when you can.

Hugs, Julie, mother of David, 46xy/69xxy, diagnosis 'diploid triploid mosaic syndrome'

dadsx2

We greatly understand your frustration. We have spent 3 yrs trying to get a diagnosis for our oldest son. We have recently been told that he has a Mitochondrial disorder and we are waiting to go to Cleveland Clinic. Just hang in there. I know that somedays it seems what will happen next, but you were given this beautiful child so that she would be loved. It can be real frustrating at times but just try to remeber that love can help you thru a lot.

sappel

Our daughters were in a similar situation when they were infants. We went through 4 years of testing before all of the pieces lead our genetecist to a diagnosis.
I was trying to see a better picture of your daughter to see if there were any similarities with the way our girls and the kids who share one of their diagnosis.
Mitochondrial was what was thoguht about our girls as well and the tests came back negative, even after a "we're 95% certain it is mitochondrial." 2 more years of testing and we finally got an extremely rare diagnosis of Trichothiodystrophy. 4 1/2 years later we also discovered, through a visit to the National Institutes of Health, that the girls also were positive for Cockayne Syndrome. You may want to look up both and see how much your daughter has similar to either of these diagnosis. Our girls are 2 of 2 in the world with Trichothiodystrophy and Cockayne Syndrome. While rare, it is being recognized more by doctors as awareness is spreading of the symptoms.

MBA28

Most of us can relate to your concerns; been there, done that. In our case it took nearly 28 years to get the correct diagnosis. Mostly that was due to physicians not having had much experience with this rather rare disease. Your lab work was sent to the Netherlands because, as you may know, they have considerable research and interest in this disease. We were fortunate in finding, by accident, a physician at Michigan State University who diagnosed the Leukodystrophy but did not know what type Kelly had; that was determined by the NIH (but the clinic she was followed by for 12 years no longer exists). The ULF is a great resource as is the Kennedy Krieger Institute. You need to be tenacious and research Leukodystrophy, and talk to researchers in the field until you get a diagnosis that you can accept. Unfortunately, like us, you may end up with a diagnosis but find there is no treatment yet.

turtle102301

Hi Everyone,

Some of you may already be familiar with me, my story and what I am doing. But I have been where you are now. My son lost his life at the age of 5 to an undiagnosed disease.

Currently I am working to get federal legislation passed that would create a National Undiagnosed Diseases Registry. My intent for this Registry is to be a repository for medical cases that have eluded diagnosis and to facilitate communication amongst physicians and researchers about the undiagnosed cases that they are handling. It would allow doctors to enter their undiagnosed case(s) into the registry and to search for others like the one(s) they are handling.

Moreover, it will provide a means for statistical and epidemiological data to be collected, analyzed and reported to aid in the early detection and hopefully identification of these complex cases.

The work I am doing is for families like yours so that you and your loved ones get the attention you deserve.

If you are interested the proposed legislation is called, H.R. 2538: The Charles August 'CAL' Long Undiagnosed Diseases Registry Act of 2009. Congressman Carter proposed it on May 21st. We have 3 co-sponsors as of right now. But we need more. I urge you to contact your representative in Congress and ask them to support this bill by signing on as a co-sponsor. You can make a difference by letting your voice be heard by your representative. This legislation will go a long way to helping you.

If you would like more information about the bill or how to contact your representative, please do not hesitate to contact me. My email is project_cal@att.net. Cell (512) 663-1340.

God Bless,

Heather Long

turtle102301

I also want to add that H.R. 2538 has received the support of the UMDF, NORD, SWAN USA and In Need of A Diagnosis.

Debinmoon

Dear Heather,

Thank you so much for your efforts to create a national registry for rare diseases. Please could you let me know who I would contact for my area?

I live in Santa Fe County, New Mexico. My son also died, but it took fifteen years to get a diagnosis of unspecified leukodystrophy and still that leaves a lot of questions in my mind.

I have asked several of my sons practioners if that information would go to a research facility, or be put in a registry of some sort and was assured that it would, but if there isn't a national registry, how would anyone get to see the bigger picture?

Anyway, thank you again.

Sincerely,

Deb Dennison

turtle102301

Hi Deb, sorry for just now getting back to you. I had not checked in for a bit. Anyway to answer your question, you would need to contact your U.S. Representative and give them the bill number and title. Tell he or she that you support the bill and would like for them to help make sure it gets passed. Your rep. can also contact Congressman Carter's Office for more information.

Jamboree

Hi there
I saw your posting and understand you situation. Please see our angel's Simra's website: www.angelsimra.org for more information. We hope this website helps parents who have children with undiagnosed disorders.

Prayers and blessings for your little angel who continues to beat the odds.

Annick

Hi,

My nephew was having symptoms similar and he was diagnosed CblC MMA. Was he seen a genetic at the hospital ? Sorry for my english...

Waiting to hear from you

Annick :)

xxxx

Hi hope your little girl is doing well. In regards to her feeding issues has she ever been assessed by an Occupational Therapist if not may be you can request an OT evaluation for feeding and sensory issues from the early intervention program in your area.

lexismom

Hi, I can relate to your situation very much. I have a six year old daughter that was diagnosed at 2 yrs old with Leukodystrophy and her type is CACH. It is one of the more rare forms of the disease and one of the less studied and known about. My daughter, Lexi has alot of the same symptoms as your daughter and has gone through the same test. She has been stable for the past year and a half. She too is my little fighter, there are days when I feel I can't go on and then I take one look at her and know I can. I would love to talk to you more about our daughters, my email is mamadrumm@aol.com. Please feel free to contact me. Can't wait to hear from you. I will keep you and her in my prayers!!

angelsimra

Hi there
I can related to what you are going through. We had Simra who had an undiagnosed disorder. She passed away in May. We have a website for her www.angelsimra.org. Please feel free to visit that website and email us support@angelsimra.org if you need any help. Do not give up and keep advocating for your little one. She is an angel and a precious gift to humanity.

SuperGroverT

This has been the story of our lives. Check out Grover's story here:
http://ning.com/supergrovert
or
http://supergrovert.com
and
http://freegrovert.blogspot.com

Thoughts are with you.

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