Mother Dives into Research on Kearns-Sayre Syndrome for Affected Child


By KRIS WILLIAMS, Hub Regional Correspondent

BROKEN BOW — For nearly his entire life, 11-year-old Aniah Preston has been battling a disease that even his doctors don’t know much about.

At his 1-year-old checkup, doctors found that Aniah’s blood count had bottomed out. His red and white blood cells and platelet counts were so low he and his mom, Amy Kulhanek, were immediately sent to Children’s Hospital in Omaha and from there to the Mayo Clinic.

Test after test to find out what was wrong came back negative. Finally, a test for Kearns-Sayre syndrome proved positive.

Kearns-Sayre syndrome is a neuromuscular disorder caused by problems with genetic material in body cells. Specifically, it is due to defects in the DNA in mitochondria, the parts of cells that generate energy for the body to do its work. It starts before a person is age 20.

Kulhanek threw herself into research about the disease and found she had to educate her son’s doctors about it because most of them had never dealt with it. She found support from one other mother in Canada whose child has the same disease.

“It’s very rare,” she said. Because mitochondria are found in cells throughout the body, Kearns-Sayre Syndrome may affect many different organs and body systems.

Aniah’s symptoms include deafness, eye pain and eye sensitivity, unexplained vomiting, lack of energy and weakness, inability to sweat enough to cool himself, protein in the urine, kidneys that leak potassium and magnesium, and failure to thrive.

When she first learned of his disease, Kulhanek decided it was “either let him live his life or keep him in a bubble.”

She did keep him away from other kids and anyone who was sick. He didn’t play with another child until he was 2 years old. It saddens her to remember the confused look on his face the first time he saw another person who wasn’t an adult.

Aniah will start sixth grade in August in Broken Bow, and he weighs only 55 pounds and is just 4 feet 6 inches tall, which puts him on the 3rd percentile for weight and 5th percentile for height for other boys his age. He will be 12 in August.

Cochlear implants have made it possible for Aniah to hear, but when he takes the processor off his head, he is completely deaf. He is teaching himself to read lips.

“I’m like a pro at it,” he said.

Lack of energy has caused Aniah to miss most of this summer’s baseball season, and he spends a lot of time on the couch.

“I still play with my friends, but not like I used to,” he said.

Kulhanek said the kidney problems are the biggest issue. Those problems make up Renal Fanconi syndrome, which is a failure of the tubules in the kidney to re-absorb small molecules, causing increased urinary loss of electrolytes, minerals, glucose, amino acids and water. Those losses result in excessive urination and dehydration even with excessive fluid intake. Growth retardation is a result of the renal disease as well.

“He is on three medications just for his kidneys alone, and he has 12 doctors. If he gets sick, he knows an IV will make him feel better, and he asks for one,” she said. “I’ve realized just how serious this is, but Aniah doesn’t know the severity of his disease.”

Kulhanek said the disease is very progressive. Every couple years, doctors find Aniah has another symptom. Other problems the disease may bring include degeneration of the retina, paralysis of eye muscles and heart disease.

“Things can happen quickly,” Kulhanek said. That’s why she’s planning to take Aniah on the trip of a lifetime very soon. They don’t yet know where they are going, but his No. 1 choice is Atlantis Paradise Island resort in the Bahamas.

He also has a list of other places he’d like to visit such as Mexico, China, Texas and New York. His reason for choosing those places is mostly because he wants to eat the food there.

“I like to eat,” he said, adding that his mom’s fried garlic burgers are one of his favorites. “It’s like I non-stop eat those things and keep saying, ‘Mom, can you make me more?’”

Kulhanek just wishes food would stick to his bones.

Lunchtime and recess are Aniah’s favorite parts of the school day. He plans on eating even more when he’s a teenager and thinks his mom is going to need to buy a bigger refrigerator one of these days.

Aniah’s other favorite activities are football, basketball, soccer, video games, fishing and hunting.

“I’m really good at sneaking up on the turkeys, and I’m crazy about playing (the video game) Minecraft,” he said.

He said he wishes he was bigger and taller so he could be more active in sports.

“I just want to be able to hear, not to wear glasses, not have kidney problems and just be normal,” he said.

He loves spending time at Johnson Lake, and Kulhanek hopes someday to move him there forever.

 

Filed Under: Uncategorized

Tags:,

Global Genes Comments

  1. My niece was diagnosed at the age of 40 3years ago. 20 years ago she went to the eye Dr. and he told her to see a heart Dr. because she had a hard time keeping her eyelids all the way open and that could be a sign of a heart related disease. But she never went.
    One day after suffering terribly with what she thought was a really bad case of the flu, she went to the ER. LUCKILY the Dr. on duty had done research on KSS and decided to do further testing. She’s seen that Dr. and a few others ever since for KSS.
    It’s not easy to talk with her Mom about it but I talk to her Dad a lot because he does a lot of online research on KSS, he wants to keep informed.
    Does anyone know of a good chatroom, Facebook page, anything like that to connect with other parents/relatives? We live in New England.
    There’s not a lot of money for research on rare diseases. I’d like to start a go fund me page or something like that. I see on TV quite often about fundraisers for rare diseases but never one for KSS.
    Best wishes to all of you. Never give up hope!

  2. Lize du Plooy says:

    My 13 year old daughter is suffering from KSS. Please please can someone direct us to who, where, how, when…… time is running out and I am really desperate for any help. We live in Gauteng South Africa

  3. Jessica theisen says:

    Hi I lost my brother to kss Christmas 2012 and my mother just on oct 5th 2016. I don’t show any signs of having it but I’m 31 years old and watched my mom and brother my entire life suffer from kss. If you have any questions I. Can let you know what helps and what doesn’t.

  4. Does anyone out there have any information on gene therapy for Kearns Sayre Syndrome? Gene therapy is being performed on other rare diseases that are even more rare than KSS – we need to get a clinical trial going for this disease. There are trials being conducted in Europe with stem cell research for other rare disorders that have been effective. Does anyone know of any studies that relate specifically to KSS or any institutes that may be interested in KSS Stem Cell Research?

  5. hope someone reads n responds, I have kss, at 46 diagnosed in 2011, still don’t understand it all but I live with it. yes I believe god can work miracles n I pray 4 the strength everyday. so if anyone has info plz share, thanx, Tina

  6. Jane Barboza says:

    My daughter 26 has kss
    I want to talk to anyone who has this. Let’s get a fb page started or email chain.

  7. hi we are from the UK. my son has just been diagnosed With KSS he is 13.

  8. Christina says:

    Hi! My daughter is 11 years old and was diagnosed with a mitochondrial disorder at the age of 7 when she started losing her hearing. She started with hearing aids, but now has cochlear implants. She has had eye surgery for ptosis. Last fall she suddenly needed a pacemaker. This is when doctors were able to say it was KSS. She is small for her age- about 4 feet tall and 50 pounds. Doesn’t eat much at all. She is so resilient. It is good to know there are others who understand our daily struggle.

  9. Kris Russell says:

    Hi My 11yr old daughter Adine has KSS. We live in the southern region of New Zealand so feel totally isolated when it comes to new info or expert help. She has been lucky so far with it only effecting her eyes, muscle development and tiredness. Adine is a very active young lady who rides horses, plays netball in the local competition, runs cross country and does all other sports at school. We have learnt to manage the disease using the Mito Cocktail and eating carefully. It is so very hard and I admire my daughter for her strength and courage. It was so nice to read all your posts. I to was very scared for the start but I’m learning that there is hope for these kids.

    • Abigail belezrah says:

      Hi,
      Can you tell me what mito cocktail you give your daughter. My 10 yr old takes nothing and I see her progression. Even though she eats well, we want to do something to help. She is small, 50lbs so I am afraid to give her too much. It is comforting to know we are not alone as I really felt this way when it first started. My

  10. miss carol Gatley says:

    Hi my name is carol GATLEY I live in rhyl n wales. I have Kearn sayers syndrome i have had this i was 15 years old. now i am 51 i have twin girls now 23. now one is helping me only my parter that looks after me. anyone out there with this i would to have a chat.

  11. MY NAME IS RODICA.I HAVE A SON WHO IS 40 YEARS OLD WHO HAS KEARNS SAYRE SYNDROME.I REALY FEEL THE PAIN FOR ALL THE PARENTS WHO HAS SICK CHILDREN WITH KEARNS SAYRE.JUST HAVE FAITH IN GOD.EVERYTHING WILL BE OK.

  12. Abigail Belezrah says:

    Hi ,
    My 9yr old daughter has just been diagnosed with KSS. I am beside myself with worry and although my husband and I have many friends and family members, noone knows how I feel which is alone and very scared.
    I now have to see a genetisist, who will refer us to someone who deals with type of disease, but I have read all the horror stories on the internet and know there is little hope for her future.
    Just today, she saw me crying and said if I read the bible and believed in God, he would make it all better. One can only hope right?.
    Currently, she shows signs of pigmentary retinapthy and short stature. We are waiting to get approved for the growth hormones which should come soon.
    I would appreciate any support that is out there as I don”t think I am strong enough to get through this.

    • You’ll get through this! My brother is now 32 and has lived with KSS his entire life. It’s been rough to see how painfully slow this disease takes over his body, but he’s still been able to hold a job, and the doctors deal with symptoms as they show up. Sounds like symptoms end up being different for everyone, however. We first noticed it with his eyelids as the muscles slowly stopped working, and he eventually couldn’t open his eyelids. He now has to wear glasses that hold up his eyelids. It then slowly started to take over the rest of his muscles, as he is now quite skinny. The hardest part has been his ability to swallow. He had a feeding tube put in last year, and can eat really soft foods, but his speech and ability to swallow are more difficult each day. As a Jesus follower, we still know that he’ll be healed–whether that’s on this side of heaven or the other is still TBD 😉 Hang in there–you’ll start to learn the “new normal” and develop routines that work for your daughter and your family.

    • Hi Abigail, How are you guys doing? Sounds like your daughter and my granddaughter are about the same age and facing the same trials. My daughter is holding on hope and living each day for all it’s worth. They live with my wife and I with the rest of their family. My daughter Jen has a blog, fake it till you make it. Brynne was diagnosed when she was 5. Her KSS has taken it’s toll and we are doing everything we can to give the little princess a full life. Brynne and I are very close, but Jen and I deal with things differently. I’d love to hear from you sometime to know how things are going. Brynne turns 10 in April. you can google pictures of Brynne Bohn and find links to Jen’s website. Hope to hear from you soon.

      • Abigail Belezrah says:

        Hi Bill,
        Thank you for responding.
        I would love to connect with your family. Hannah just turned 10yrs old. I can’t believe we have known about this for almost a year now. Does Brynne take any sort of vitamins?.
        I would love to connect. I left you my Email, for you to respond.
        Look forward to hearing from you soon
        Abigail

Speak Your Mind

*