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Want to share and compare info

Cyarb Message
18 Mar 2013, 02:04 AM

My daughter was just recently diagnosed with THES at age of 11 months. Her THE syndrome is caused by the SKIV2L gene. We were told that there were only 6 families with this mutation causing THES. There is another mutation on TTC37 that cause THES. That is just a tidbit of info that I have. Just want to connect with others.
ShariDHaz Message
19 Mar 2013, 02:06 AM

Hi! Our daughter has THES. She is 5.5 years old. To be honest, I don't remember which gene has mutations as we have focused on managing her symptoms. The teams that found the responsible gene had her DNA & ours. We are in Canada. We have connected with a family affected by THES in the US. I would be happy to share information with you if you would like.
Cyarb Message
19 Mar 2013, 01:28 PM

Oh yes thank you. I would love the info on the family inthe US. We have only had this diagnosis for a couple of weeks. We haven't had the chronic diarrhea that it has said. She has only had diarrhea twice. Once with a formula change and another time that we thought was from a virus. She does have frequent stools. We had her in Total parenteral nutrition for only a week, but it didn't help with growth and made her stools looser. She just hit 10 lbs. She is coming up on a year and her doctors are going to try to switch her to cows milk. Im nervous about it. There is so much information I want to compare.
donna64 Message
19 Mar 2013, 10:34 PM

hi My grandson is being tested for THES. He has a lot of the symptons and this is looking like it could be the answer. How long did your results take to come back when tested and where was the test done. We are in australia. and have contact with another family also diagnosed with THES. My grandson is 2 and is on tpn. He is yet to have any solid food. He is fed formula via a stomach plug but they are thinking of bypassing the stomach and putting the tube straight into the intestine due to chronic vomitting. He also suffers diarrhea. We would also love to have as much info that we can find.
Cyarb Message
20 Mar 2013, 01:45 AM

Donna64, We had no idea that she would have THES. She just had to be on supplements, was really small, didn't gain weight very well, and got sick easy. The exome sequencing was the last ditch effort. Our test took exactly 15 weeks and it was done at Baylor Genetics in the US in the state of Texas. Without insurance it would have cost us $7000, but we got lucky and it was covered completely by insurance. I'm sorry to hear that your grandson has not been able to have food by mouth. We've been lucky. She has been on this formula called Nutramigen and has been taking puréed fruits and veggies by mouth. She doesn't gain weight well. Pretty much a consistent 15grams a day. She was born at 1.076kg and is now at 4.57kg at 11months.
donna64 Message
20 Mar 2013, 04:39 AM

Cyarb We have been told the test can only be done in France so Blakes Dna has been sent to europe. We are thinking we will have a long wait. The test is not covered here and we will pay for it ourselves but have been told its about 1500 euro. As far as the food goes, Blake refuses to eat anything orally. He was just under 4 kilos at 10 months of age and is now 13 kilos at 2years of age. This has been mostly due to the tpn. He was 970grams at birth. We have set up a fb page for blake to try and get awareness and find others in the same situation. It is Blake Jonathan Edward Bowman. Please feel free to have a look. The more info we can all find the better for the kids. I am assuming you are in the USA.
ShariDHaz Message
20 Mar 2013, 12:49 PM

The teams that discovered the gene are in Europe. There were competing teams in France & England looking for the gene. Both teams had our DNA because we had two hospitals working with us. They found the gene at basically the same time. I do know that our geneticist confirmed the diagnosis himself in his lab before telling us so it could likely be done elsewhere if they knew what they were looking for. We are in Canada as I said above. Luckily the tests are covered here. It is exciting for us to connect with other families. If you are interested in sharing details & stories, email me ( I'm all for raising awareness but some things are too personal to publish on the internet.:-) Our daughter is 5.5 & her best weight had been 14.3 kg but she is down to 13.7 kg or so because she loses every time she is sick.
donna64 Message
20 Mar 2013, 09:19 PM

Hi ShariDHaz It is good to find others in the same situation, helps to not feel alone in the situation. Not sure if you saw in my previous post about my grandsons facebook page. My daughter set it up to help keep family and friends up to date on his progress. If you would like to look its under his name...Blake Jonathan Edward Bowman. He is booked in for another procedure soon to have a tube go directly into the intestine as he has chronic vomitting and they are at a loss as to how to stop it. They put a shunt in his head to take away pressure there in the hope that would be the prob and although it did relieve pressure it didnt help the vomitting.
Sarah567 Message
23 Mar 2019, 12:59 PM

Hello, i appreaciate you all sharing stories and info to help eachother out. If any one is able/willing to message me to discuss their experiences a little more in depth and offer any tips i will be forever greatful. I hope all of your little ones are still thriving