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Does anyone have a child with Senior Loken Syndrome? If so, I would like to hear from you. How was your child diagnosed?
Does anyone have a child with Senior Loken Syndrome? If so, I would like to hear from you. How was your child diagnosed?
My 16 year old son has a tentative diagnosis of Senior Loken Syndrome. Dr. Adams at Wilmer Eye Institute at Johns Hopkins feels this is the proper diagnosis but would like to have genetic testing to confirm. We have been unable to accomplish this testing. He was diagnosed with intersticial nephritis,(end stage renal disease) which resulted in a transplant and retinitis pigmentosa.
Judy
Thanks for responding, Judy
If you don't mind, when did he have the transplant? At what age? My daughter Erin is probably going to receive a kidney from her mom this summer. She was born with extremely low vision and was diagnosed with Leber's Congenital Amaurosis at age 6 months. At age 5 her kidneys failed and she went on night time Peritoneal dialysis. She also has mild liver fibrosis.
You are the first family I have been able to contact with a diagnosis of Senior Loken Syndrome. Do you know of any others? I would like to contact as many as I can .
Your Dr may already know this, but research is being done by a Dr Hildebrandt at the University of Michigan on Senior Loken Syndrome. That would be a place to start.
Rick, Kim and Erin Taylor (Daughter, age 7, Senior Loken Syndrome)
Houston, TX
Rick, Kim and Erin,
Mike, my son, has had 2 transplants. The first was in 2000 and was donated by his father. At the time Mike's Factor Five Leiden had not been diagnosed. Simply put Factor V Leiden causes excessive blood clotting. The kidney began functioning beautifully but within hours they noticed it was beginning to slow down. It had to be removed 24 hours later. It took them 6 months to discover the FactorFive was the cause. Mike was back on PD for almost 3 years until a cadaveric organ was available. His blood type is B neg, not commom. I am happy to report since then the kidney has been working wonderfully. ( Can you hear me knocking on wood? ) Mike does need daily injections of Fragmin to hold off any excessive clotting. I might also mention, not to scare but so that you are on the lookout for it, he had an unexpected reaction to the Prograf prescribed after the transplant. He developed Nystagmus, rapid chaotic eye movements, they attributed to a lesion on his brain stem caused by the prograf. Once we decided to take him off the Prograf and just go with the prednisone and Rapamune the lesion disappeared but unfortunately, though it lessened, the nystagmus is still with us.
I have found one other young woman with Senior Loken. She is a college student in Texas I believe. I don't have her permission to give out her email but if there is a way to email me privately I will contact her for you.
Mike has been diagnosed with Retinitis Pigmentosa. It was a long time until we had this diagnosis. For years they just told us he was "extremely near-sighted" and had strabismus. When Mike was first diagnosed with End Stage Renal Disease it happened quite suddenly. He had been getting steadily sicker, losing weight, nose bleeds, fatigue etc. We were finally having xrays and blood work ironically on the day he was in crisis. The xray discovered fluid build up and they told us to finish the blood work and go right to our family doctor immediately. He sent us to the hospital and by the time we got there they had the blood results that showed Mike's kidney's were functioning at less than 5%. A bed was waiting for him. Hemodialysis that night!
When I searched for an explanation I came across Senior Loken but the doctors and I discounted it because at the time the literature said mental retardation was a component. Well Mike does not have MR ,(or Intellectual disability as is now PC). He does however have Asperger's Syndrome/Autism. I was wondering if your daughter also had developmental delays.
All of the baggage that comes with it is why we didn't see the kidney failure coming. He looked perfectly healthy and any sorts of medical tests were difficult. The Opt. finally resorted to eye exams under anesthesia to get a good look at his eyes. It took me over a year to find a place to do the electro-retinagram UA. We finally got the folks at Johns Hopkins to do it and that was when the RP was discovered.
Wow! this is much longer than I expected it to be. I'm so sorry. Let me end by thanking you for the info on the University of Mich. I will certainly pass it on.
Judy
judynmax@yahoo.com
Judy,
Thank you so much for your reply!
Would you mind if I e-mailed you directly? I have a two page document called "Erins Story which tells how she was diagnosed and her current treatment. I think you would find it interesting and useful.
I am working with a geneticist at Texas Childrens Hospital who is looking for research scientists presently studying Senior Loken Syndrome. I e-mailed her yesterday and asked if she would like to hear from others with Senior Loken Syndrome and she said yes! Erin's Geneticist is Dr Lalani, and the point of contact for her is a Genetics Counselor named Patti Furman. Patti's e-mail address is pjfurman@TexasChildrensHospital.org . You may want to e-mail her with information about your Son, and perhaps a way to get a hold of his Physician. This is the first case of Senior Loken Syndrome in the 25 year history of Texas Childrens Hospital and they are trying, as are we, to gain as much information as possible about it. Dr Lilani is looking worldwide for scientists presently studying the disease.
With respect to your college friend with Senior Loken Syndrome, tell her please we would love to hear from her. My e-mail is rtaylor@wilsoncompanies.net. Please pass this on to her, or gain her permission for us to e-mail her.
My purpose in all of this is to find as many Senior Loken folks as I can and, via a listserver or other means, allow us all to share our experience, strength and hope in dealing with this baffling illness.
Looking forward to hearing from you!
Rick Taylor, (Daughter Erin, age 7, Senior Loken Syndrome)
My 9 yo son has a possible Senior Loken Diagnosis. We are having an ERG done on June 15th. He was diagnosed with Juvenile Nephronophthisis in December 2006. He also has a congenital heart defect(aortic stenosis) and is bipolar. I would love to hear from anyone else going through this.
You have found the right link. I am the father of a 7 year old daughter born blind with Leber's syndrome who, at age 5, developed juvenile nephronopthisis. This collectively describes a subset of Senior Loken Syndrome. We went through the ERG at age 6 months after Erin's eyes failed to track normally. As you can see from the comments, there is at least one other mom with a Senior Loken child. You are not alone!
Erin has mild liver fibrosis along with her kidney issues but fo far, that is not a major issue. We are prepping for a kidney ransplant later this summer. My wife Kimberly will be the donor, hopefully, if all of her tests go well.
I know it is a very trying time for you. If you want to, e-mail me directly, and I will send you a lot more information on Erin's condition and how she was diagnosed. I will also, with your permission, put you in touch with a Geneticist here in Houston who is helping us research Senior Loken Syndrome. She wants to be put in touch with other Senior Loken children.
You can contact me directly by adding me to your friends list on this community. That should give you access to my e-mail. If it does not, let me know and we'll go another route.
My intention by starting this discussion was to locate as many parents of children with Senior Loken Syndrome, or adults with Senior Loken Syndrome, as possible and put all of us in touch with each other. That way we can share our experience, strength and hope with each other as we learn to cope with this baffling disorder.
I am curious; was your son diagnosed as visually impaired at birth? Has his visual impairment always been there, or is it just now appearing? How did you realize the kidneys were failing?
Take care and God bless you and your family.
Rick, Kim and Erin Taylor (Daughter, age 7, Senior Loken Syndrome.
Rick,
Thanks so much for replying. Juvenile Nephronophthisis is such an overwhelming disease with so many variables. And since we are so newly diagnosed (less than 6 months) I feel there is so much yet to learn, but so hard to find anything out.
My husband, Tom, and I (Pam) have 3 boys. As my pediatrician puts it "Funky things happen when our genes meet". Our oldest son, Andrew - 12, battled constant sinus infections and upper respiratory problems until he was diagnosed with Type 1 diabetes 4 years ago. Our youngest son, Conner - 5, is following an eerily similar path. We suspect he has the juvenile nephronophthisis as well, but will have to wait and see.
Then there is our middle son, Bradley - 9. He is the one I posted here about. Bradley was born without any complications. I did have gestational diabetes with him and developed pre-eclampsia but delivered him only 5 day early so he was still considered full term. No vision problems. His first health issues were with recurrent ear infections. We had tubes put in when he was 9 months old. When he was 21 months old our pediatrician thought he had leukimia. His hemoglobin was down to 6.4. After 6 months of constant blood checks they determined it to be transient anemia. Also at this time we had a heart murmur that needed to be evaluated. That turned out to be aortic stenosis, a congenital heart defect. Bradley was diagnosed with bipolar disorder when he was 7. We had suspected for a long time, but it is very hard to get a diagnosis in a child this young. We finally got him stabilized on meds and life was pretty good.
Bradley complained often of his head and stomache hurting, but with the bipolar disorder it was hard to determine if there was more to it. Finally last summer he started taking naps in the middle of the day. This was a child who had fought naps all his life. He just didn't have any energy though. I took him into his ped. and after an exam and blood work the only finding was he was slightly anemic. We put him on prevacid for the tummy pain and a multivitamin to help bring his anemia up. Six weeks later we were no better with even less energy. Back to the peds office and more blood work. This time he was even more anemic (hemoglobin 9.2, hematacrit 21%) and his creatinine and bun were elevated. Our ped wasn't to worried about the creatinine and bun because she didn't think they were to bad. Our physiciatrist is who led us to the nephrologist. One of the meds Bradley was taking for the bipolar disordered had a very rare chance of causing kidney failure. While waiting for our nephrology appt. we had an abdominal ultrasound done. Bradley's kidneys and liver showed up with increased echogenicity. At our first nephrology appt. we were told it was doubtful the medicine was causing this, but the only way to tell was to come off the medicine for about 8 weeks or do a kidney biopsy. We tried no meds for 4 weeks and then opted for the biopsy. That was done on Dec. 5, 2006. We were told the next morning that there was no way the meds could be causing this and we had the juvenile nephronophthisis. We saw a geneticist at St. Louis Children's Hospital in January. They are the ones who sent us to the eye doctor because of the possiblity of the retinitis pigmentosa. We also had an MRI on his brain done. The MRI was clear, but the eye screening resulted in them wanting to do the ERG. The eye doctor is pretty sure Bradley has retinitis pigmentosa, but thinks it is a milder form than most. Bradley actually has 20/20 vision, but has very little night vision and has a hard time picking objects out of crowded backgrounds. We are having our ERG on June 15th in St. Louis, so hopefully will know more then.
We saw our nephrologist this past Tuesday and when I gave him the information regarding Bradley's eyes, he is the one who brought up Senior Loken Syndrome. We are supposed to have blood drawn in June while we are at Children's for the geneticist to send off to try to determine what type of juvenile nephronophthisis we have for sure.
The other thing we had noticed in Bradley was a complete decline in his fine motor skills. When he started third grade last fall I could hardly read his handwriting. He wrote better in first grade. He also had no stamina. We are now in occupational therapy twice a week to help improve this. The doctors think this is a result of the severe anemia, which is pretty dominant with this type of kidney disease.
Our nephrologist feels we will probably have a kidney transplant sometime within the next 3 to 4 years if Bradley's disease continues to progress at this rate.
Please, feel free to share my email (johnson.pam@sbcglobal.net) and information with the geneticist down there. I would love to hear more about how Erin was diagnosed and if you have experienced any of the things I mentioned above. I have added you to my friends list here.
Does your nephrologist have any othere patients with juvenile nephronophthisis? Ours has 2 others he is following. They are a brother and sister in the same family.
I look forward to hearing from you.
God Bless you and your family.
Pam, Tom, Andrew, Bradley and Conner Johnson
Hi my name is Sarah Wilson and I am 25. I can relate to your son Mike. I myself had a kidney transplant in January 2000 with a kidney from my cousin. And due to fluid overload, prograf and taking the fluid off too fast. I as well had leasons on my brain and developed strokes (which I no longer have) because of it.
I was diagonsed when I was 12 that I had senior loken syndrome when after going out for Halloween my mother pointed out a pumpkin and I could not see it. This was the first cause for panic, but it lead to the diagonsis. Which was a relief, as I had had kidney problems since birth but they did not know why, as none of my relatives had any kidney problems.
The kidney lasted for five years and I had two rejections which were reversd, but the third rejection could not be reversed and I am now awaiting another kidney. Hopefully really soon.
With my vison when it comes to the periferal I have only 10%, but I still go on. My doctor, Robert Koenekoop is doing research with John Hopkins university on the disorder and right now I am on vitamin A, as it prolongs the amount of periferal vision that you do have.
Sarah
lastdawn@hotmail.com
Dear Sarah,
Thanks so much for your comments! I started this discussion around six weeks ago with the intent of finding as many folks with Senior Loken Syndrome and parents of children with Senior Loken Syndrome as I could so we can share our experience, strength and hope with each other. As you can see, the response has been wonderful.
My daughter Erin just received a kidney last week! This was very unexpected, as we were preparing to have her mom be the donor, but a cadaver kidney became available here in Houston, so, last Saturday, the 9th of June, she had a kidney transplant. So far, everything is going very well.
I will e-mail you a document I wrote about her called 'Erin's Story' which I wrote for her caregivers. Let me know what you think of it. also, you mentioned that your Doctor is doing research on Senior Loken Syndrome. Is he interested in access to information about our daughter and possibly blood samples from her and the parents? We have sent such samples before. I can arrange that through a geneticist we are working with at Texas Childrens Hospital.
Looking forward to hearing from you.
Rick, Kim and Erin Taylor (Daughter, Senior Loken Syndrome, age 7)
Houston, TX
Hi,
My name is Marije Klaui from the Netherlands and I am 25. I’m apologize for my English. I was diagonsed when I was 12 that my both kidney’s were working for no more then 25%.
In 2004 I was getting Perotonial`dyalise. At August 16th 2004 my husband donated me one of his kidneys.
The last 5 years I’ve got a lot of problems with my vision, some pieces of my retina are damaged and were falling out. Does some one regonize this?
At this time the medicals diagnosis now Senior Loken Syndrome and the are testing my DNA at this moment. But They also told me that it will taken at least 1 year before there is a answer. Question: Did you all getting a genetic examination and did you all must wait for at least 1 year before getting the confirmation?
Can anyone give me more information about the Senior Loken Syndrome? And about the procession of it?
The last 6 months my health is not to well, every day I have a fever, headache, nausea, vibrations etc. The medicals can’t give me an explanation about it. In September I was in the hospital for 5 days for examinations but they couldn’t find anything. Does anyone recognize this problems??
I hope some of you can give me more information about my problems and about Senior Loken.
Looking forward to hearing from you: mklaui@orange.nl
Marije Klaui
My 20 year old son has a diagnosis of senior loken syndrome; he has retinis pigmentosa renal insuffisance mental retardation and disable hearing
I want to know if there is treatment or medicaments
MEUN
Hello,
I just found this website last night in my research online about the ins and out and ups and downs of kidney transplants. I am so grateful to hear from others with Senior Lokan syndrome - my, how the stories differ! My 20 year old son, Casey, will be needing a new kidney most likely within a year, and will probably have the surgery at NY/Presbyterian Hospital in NYC (where he is currently living).
Casey was diagnosed with a retinal degeneration when he was 3. He had about 10% field of vision, with the residual visual acuity at 20/200 - this has remained steady. Otherwise (we thought), he was a healthy boy. In his teens he remained really skinny, and always wanted to eat salty things, so understandably he drank a lot of water. But no one thought much of this. Aside from being an academic rebel, and ultra-sensitive to many things, we really thought he was fine. He did complain often of being tired - he still does, although his hemoglobin is normal.
Then when he was 16, two things happened at the same time: Our big dog became quite ill, and in the process of trying to figure out what was wrong with him at the Cornell Vet Hospital, I learned that a couple of his symptoms - drinking a lot and peeing a lot was called polydipsia and polyuria, and something might be happening to his kidneys. During this time, Casey, who has always been wild about aeronautics and flying, started going to local Civil Air Patrol meetings at Cornell (as an anti-establishment, skinny blind boy - he was an odd candidate, but I was supportive!). When we started filling out the application for membership, it asked for his blood type, which I did not know.
So I went back to some of his old medical records to see if it was in there somewhere. I read over the genetics report from when he was 3, and I came to this sentence: "Sometimes with this kind of autosomal-recessive gene causing blindness, it can be part of a syndrome. But probably not in the case of Casey, since he seems like a very healthy little boy. Except perhaps for nephronphthisis, a tubular renal disease characterized by polyuria and polydipsia."
So I casually asked Casey how much water he thought he drank every day, and he said "Oh, a gallon or two." Whoa! I called his doctor and the rest is history. I went on the web immediately to research this kidney disease and when Casey met with his first nephrologist, I came in with his diagnosis - Senior-Lokan syndrome.
At that time, and since, his doctor has said at some point Casey will need a transplant, but he kind of inferred it would be in several years. His new adult nephrologist in NYC, however, is pretty sure it will happen soon. My hope is that either my brother or I will be a match, and I am not concerned about our surgeries, but I am concerned about Casey's transplant and the intense recovery period.
Life has not been a bowlful of cherries for Casey - well you all know about that - he is just starting out on his own, working as a piano technician, and finally in a milieu with other young people his own age and getting a taste of these fantastic years. Ah, youth!
I am struck by how different everyone's experience is with this syndrome. I hope to hear stories of how the kidney transplant gave you or your child a "new lease on life." Casey has been tired for so many years, I would gladly give him one of my kidneys to give him a chance at feeling good!
Grateful for this forum.
Hello Pam, Tom, Andrew, Bradley and Conner
I was thinking about you and wondering how Bradley is doing.
Erin had a Kidney Transplant in June of this year. A donor kidney became available and she has been doing pretty well with the exception of one recent bout of rejection. She is doing well in the second grade.
Let us know how Bradley is doing.
All the Best,
Rick, Kim and Erin Taylor
Marije,
i am sorry it has taken a long time to reply, but, better late than never!
This is what I know of Senior Loken Syndrome, based on my research as a parent of a seven year old with the disorder. Senior Loken Syndrome can have a wide range of symptoms, but, by definition it always involves the retina and kidneys. Occasionally there is liver fibrosis, as has occured with Erin, and in some cases there are neurological complications as well, which Erin does not have. Vrey often, when neurological complications are manifested, the true diagnosis is Jouberts Syndrome, which is closely related. What is common to all of these is they all typically manifest themselves in childhood. Since you mention you are 25 and your vision has given you problems only for the last five years, I assume your vision as a child was normal. This makes me wonder if it is Senior Loken Syndrome.
I wish you all the best in getting your diagnosis. Please keep me posted!
Rick Taylor, Father of Erin Taylor, Daughter age 7, Senior Loken Syndrome.
Hello Sarah,
You had posted some time ago on the NORD website that you have Senior Loken Syndrome. I am the father of a seven year old daughter with Senior Loken Syndrome and and I am tyring to find all I can about this disorder and, most importantly, how to best raise a child with it. I live with my wife Kim and daughter Erin here in Houston, TX . Erin has been blind from birth, she went into full kidney failure at age five, went on peritoneal dialysis fro two years, and last June received a donor kidney. We recently have had one bout of rejection. We are also willing to donate blood samples to any institution researching this syndrome. Are you presently on dialysis? If so, what kind, hemo or peritoneal? How were the rejection episodes handled? Erin is on Prednisone now and in thr rejection episode they increased it dramatically for a few days. She seems awfully moody and tired. We just dropped the dose back to normal and hope she recovers her energy quickly. How did it make you feel?
Thanks for sharing.
Rick, Kim and Erin Taylor (daughter, Senior Loken Syndrome, age 7)
Thank you for the information, today i had a letter from the hospital and the said i have senior loken.
The are going to sent my DNA to Barcelona, and test the NPHP1-gen.
Was youre daughter tested by this gen??
You dont't think i have senior loken, so i hope you are right.
Do you know the course of the sickness??
I hope you understand my question.
MArije
Hi,
I have been searching the internet every so often in the hope of finding some new information about senior loken syndrome. 3 years ago, my daughter was diagnosed with the end stage renal failure. I had no idea she was getting so sick already. At an early age ( about 10 months old), she was diagnosed by her neuro-opthalmologist with retinitis pigmentosa. Yes, like most of you guys, she had to undergo ERG-VER and other tests to confirm the diagnosis. She had the ESRD like I said 2 years ago when she was 13 yo. It was when her doctors at UCSF CHildren's Hosp. in San Francisco broke the news to me and recommended several tests to be done when i also mentioned her RP. It took several tests including the geneticists, eye doctors, and even ear doctors for them to confirm that she had senior loken syndrome. She also had frequent ear infections since she was a small girl. I am not sure if this is related to that syndrome. What also puzzles me is the fact that my daughter inspite of all these, has been in the honor roll almost consistently. I say this because it was noted also that senior loken syn. patients may have some form of mental retardation.
She went on hemo dialysis for about a year....and after passing all the rigid medical testing, I gave a kidney to her. We are so praying hard that I was match then. As a matter of fact, this is our second year anniversary after the surgery. Thank God, she has been doing well. There were also 2 instances when her doctors switched her meds, they replaced prograf with rapamune. She had a reaction with the rapamune ( terrible mouth sores). So they switched her back to prograf. Last August 07, she had the cataract removed from her left eye, and she said it helped her a bit. We were told that it is typical for RP patients to get cataracts. And also last December, she had a left ear reconstruction surgery. I know all of us has had different unique experiences with our loved ones. I would just like to share and at the same time get to know more information about this syndrome.... i believe this is one tool for getting educated about this.
This is quite long already, but I hope I am able to reach out to others.
God Bless and hope to hear from someone soon,
Peng and daughter (age 15, with Senior Loken syndrome)
psarao@yahoo.com
Hi,
My 17 year old son has Senior Loken. We just had a visit with our low-vision doctor. It was a bit hard to hear the news. Our local guy said he did not see any change in my son's vision but this guy said he definitely had. I have read comments in some cases where vision, though very poor, has remained stable. When I asked the doc about prognosis he replied they don't know a whole lot about the progression of the RP in Senior Loken but gave me no hope my son would be holding on to the vision he has. I was wondering about the experiences of others.
Thanks,
Judy
Hi,
My son was 12 when he had his transplant. At six and seven he was the typically active kid, not hyperactive but not a couch potato either. One of the clues we had something was going on was that we watched him go from that,to a kid who didn't even want to walk to the car over the course of a few years. Once he was put on dialysis his energy went up a bit but not great.
After the transplant he was a new kid. He has some anxiety issues and obsessive/compulsive problems due to his autism spectrum disorder. He uses physical activity as a calming technique. He runs on the track at school everyday he can. Throughout each day he visits the weight room at least once, climbs the 3 flights of stairs(just up and down for the exercise) a few times and power walks the empty hallways between classes. He will say, "I love the feeling I get from running".
So I guess I am saying that my son's post transplant new-found energy has lasted for five years and we see no slowing down. My guess is that it will be much the same for your son.
There is a "Reader's Digest" sort of story connected to this. Our first attempt at a transplant,(his father was the donor) failed due to undiagnosed Factor five Leiden. Needless to say I was a basket case times 10 after the second when it seemed to be taking a long time for this kidney to get going. The one nurse took me aside and said quietly, "Don't worry, this is a young strong kidney. The donor was a runner." Did I mention my son had no love of running until after the transplant?
Wishing you and your son well,
Judy
Dear Judy,
Thanks so much for replying to my post - we just had the first meeting with Casey's transplant team this past week, so your note was timely! I am SO happy that this second kidney "took hold," and I loved your Readers Digest Story. I am not a skeptic and keep open-minded about all sorts of things! I think it's just great that your son is loving running so much, as it must benefit him in so many ways.
It is very encouraging to hear how your son's energy really picked up. Both Casey's dad and Casey are reluctant to believe that his energy level will increase dramatically, but I want to believe it!
With gratitude for your thoughts, and I send my well-wishes to you and your son, too,
Margaret
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