Hi, My name is Melanie and I live in Sydney Australia. My now 9 year old son (Ryan) was diagnosed with SCLS in February 2013. I would like to know specifically how many children are out there with this disease. I have had conflicting numbers thrown at me by his doctors and this forum. Could the parents of any children please reply with the following information on their child Age when diagnosed? Current Age? Sex? Deceased/Living? Location? Treatment? Side Effects? Other Conditions? Has their treatment stopped their leaks? My son has IVig every 3 weeks, he gets really sick for about 5 days post treatment. (Stomach Cramps, Leg Cramps, Muscle Spasms and Headaches). He has only had minor capillary leaks since beginning treatment. In the last 6 months he has had 3 Supra Ventricular Tachycardic episodes requiring endosine to restore regular heart rhythm (bpm^256). He has been placed on 40mg Verapamil 3 times a day to correct this condition. I have been told this is unrelated to the SCLS, however my son was completely healthy pre Feb 2013. Has anybody experienced similar? I would really appreciate your reply Melanie

Melanie, You can save yourself a lot of trouble by asking your physician to contact Dr. Kirk Druey at NIH with these questions, because he has compiled all this information and more, see the Discussion Forum titled "Calling Parents of SCLS Children."

Hi Melanie , My daughter is 8 yrs old now. We live in Maryland , USA . She had her first attack when she was 3 yrs old in June 2009 . She spent a week in the hospital , and remained well until October 2011 when she was 5yrs old.That episode was very severe , and so she given a diagnosis of possible Scls . However when she had an attack again requiring ICU hospitalization in September 2012 , she was given the definite diagnosis of Scls . At this time she started monthly Ivig , and that was continued until January 2013 . In January 2013 we decided to switch to scig infusions because Leila could not tolerate monthly Ivig . Leila would become very ill the days following her infusion . She would have severe headache ,high fever vomiting stomach pain , back ache, and high bp. Leila is now on sub q igg therapy and it's tolerated much better. She does have side effects but they are mostly mild and tolerable with meds and rest . I would say that the treatments have seemed to stop her severe leaks , she has not been hospitalized since September 2012! She seems to sometimes have some symptoms of very small episodes which resolve on their own. Leila is otherwise healthy , she does have hyper mobility in her joints which is common among our family and she developed pots syndrome after her most severe episode in 2011.Her pots syndrome is very much improved over the past year , and only bothers her occasionally . I hope that this info can help you and your son Ryan . I wish you both the best , and if there is anything else you would like to know please feel free to ask.

My physician is in regular contact with Dr Kirk Druey, and he has advised that Dr Druey only has 5 or 6 reported cases of children around the world currently. The forum titled "Calling Parents of Children with scls" lists 11 children. If the parents of these children are on this forum, I would like to hear from them directly. Thanks Melanie

Hi Leila's Mum, Thank you for posting back, your story is eerily similar to mine. Ryan's doctors are also hoping to change Ryan's treatment to SCig because he has the same reaction to IVig as your daughter. How often does your daughter have the SCig? It is crazy that 12 months ago when Ryan began having IVig his doctors were trying to tell me that patients suffered minimal side effects. Everytime I explained Ryan's symptoms they tried to write them off as psychological because of everything he'd been through. Hearing other people's stories help me understand what he is going through. I wish you and leila the best.

When we started scig it was done 3 times a week . We did Monday Wednesday and Friday . She tolerated three days a week well , however it seemed as though she was always feeling the side effects so we asked to try 2 x a week. She has now been on 2 times a week and her igg levels have stayed in the range they would like! So twice a week she gets Hizentra 4 g and it works for her.The side effects are still there but are much much more manageable and are mild compared to monthly Ivig . She does have achy legs and feet still , and this seems to bother her when she is recovering from a cold the most. The side effects from Ivig are very very real , we have been there. Some people may tolerate it well , but my daughter became violently ill after every infusion . And honestly after ICU and everything that happens there those infusions are piece of cake .... Until the side effects happen!

Hi Melanie, I am interested in knowing which hospitals in Australia have dealt with the Shrek disorder! In Melbourne, they are in the East including Knox Priv; Epworth Box Hill; and Maroondah. I gather Wazza from Canberra has his hospital aware. Which have you tried in Sydney.. (I gather paed.. .? PoW) This is mainly so I can plan travel. John

Hi John, You are right, my son is treated at the Children's Hospital at Westmead (Sydney). It is right next door to the adult hospital at Westmead. His doctors could always be contacted via any hospital emergency room in Australia to advise on this disease. Their names are Dr. Peter Hsu, Professor Melanie Wong or Professor Alison Kakakious. I hope this helps. Happy travels, and stay healthy. Melanie

Melanie - I was wondering how your son is doing . Hope you are both well ! How is Ryan tolerating the sub q ? Best wishes, Kristy and Leila

Hello Melanie, My SCLS seems to be improving with IVIG.... BUT..... As my attacks have become less frequent, I have suffered more and more from palpitations, and heart arrhythmias. Frustrating! I have had Holters, Angiograms, and currently have an implanted loop recorder which wi fi's to my bedside transmitter... And independent cardiologists both say , "don't worry, it's not associated! "... But, by golly, do I feel crook during an attack! My worst ecg has shown a junctional rhythm, but nothing lately. That's the bad news. The possible silver lining came only yesterday! I suddenly realised my palpitations came after MSG. (And additives 627 and 631 which are related). Now obviously it is early days, but its worth trying. Please let me know how you go? Seeing I am a retired emergency physician, I am aware of how distressing the 'not knowing' is for all, ( including for the Dr). John

Hi, I just registered to this site. My daughter is 5 and was loosely diagnosed with SCLS earlier this year when she was still 4. This month will mark one year since my daughter fell sick and ended up in trauma room and ICU. While doctors though she had meningitis we left home being said she will not have another episode like that again. However, we were back every six weeks in ICU with a hypovolemic shock among other things like eye swelling. This May she was loosely diagnosed with SCLS. We were also told she might be the 10th child in the world with this. We are in Houston so we go to the medical center at Texas Childrens. Since this June she has been receiving IVIGs on a monthly basis. We believe it's working because she has not had any swelling or episodes since her IVIGs. She does have a mild headache two days after each infusion but goes away after medication. She also complains about occasional minor stomach pain as well. I would love to communicate with other parents as this has been very difficult on our family and the limited information on this illness makes it a bit more difficult.

Hi Kristy, Thanks for reaching out, Ryan is doing better on the sub q, he still has side effects but they are not as severe. He is receiving 20ml every other day. It is really hard to give him something that still makes him sick (mainly stomach pain that is quite severe). I am considering stopping all treatments, to give him a better quality of life. He has not had any SCLS attack since Feb 2012, but has been sick since April 2012 when he began IVig. I am so uncertain about what to do, It is really hard being a parent. I only know that if it were happening to me, I would stop it. Ryan has only ever had one serious attack, I sometimes wonder if it was only a one off. Do you think I could be making a mistake? Mel

Hi Itzy11, Please do not read my above post and doubt the treatment that your daughter is on. It has been proven to work, and is the best defence we have at fighting this disease. If your daughter tolerates it with no more than a headache you are extremely lucky. My son does not. On IVig he would suffer severe side effects, headaches, blurred vision, severe stomach cramps and muscular spasms in his legs that left him unable to walk, these symptoms lasted for around 5days. He has only just started having immunoglolin at home subcutaneously (through the stomach), to try to lessen the side effects, which it has. Except now he is sick all the time, whereas on the IVig he would have 2 good weeks between infusions. His doctor has described it as the lesser of two evils. I am considering stopping the treatments as I feel like Ryan could have a better quality of life without them, but I do run the risk of Ryan have a life threatening attack. What to do.... Mel

Are there people on this forum, who have SCLS who do not receive immunogloblin?

Yes, indeed. There are patients who take Theophylline or its equivalents (e.g., see beau) or Prednisone (giraffe309), or a mix of the two (kimberoumayah), and there are a couple of patients experimenting with other medications (hiltjo), and then there are patients taking nothing and hoping for the best. However, most patients who tried these approaches and kept getting life- and limb-threatening episodes have transitioned to IVIG with overwhelming success.

Hi Mel, I understand your pain and uncertainty on what to do with your child. Our daughter was admitted to the trauma room twice and ICU 4 times before they decided to do IVIGs and diagnose her with SCLS. It was beyond difficult seeing her go through that. It is definitely hard being a parent and while we have two other boys we had to focus our attention on her while others helped us with our boys. Doctors did start her on theophylline but discontinue it after she had another shock episode while being on it. It has been a roller coaster as well because she would see her pediatrician, and a hospitalist dr., and until last month, an immunologist dr. Finally admitted her onto their department and now they are our main point of contacts. I will keep you and your son in my thoughts and prayers so tthat he feels better. Best wishes...itzy