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At what point should you start treatment?

chall Message
9 Nov 2010, 02:53 AM

We have just recently learned our 9 year old has Muckle-Wells. We are working with a rheumatologist at Children's Hospital in Columbus Ohio. Most of last school year and all of the summer before, he was pretty sick. Lots of fevers, pain,throwing up and losing weight. He has been doing quite a bit better lately and his blood work is closer to normal. We were given paperwork to read about a possible treatment, which is the injections every 8 weeks. Before discovering the Muckle-Wells, they found that he had urinary reflux with a good bit of scarring. He,ll be having another ultra sound of the kidneys to see if it,s progressing. I think then we'll talk more about the treatment. I was very glad to find this web site. I want to learn as much as possible. I would really appreciate some input on whether or not we should consider the injections now or wait to see if he has more flare ups. Is it something to be used only during flare ups? Right now, although he's doing better, he has some pretty rough days. It seems he has to have ALOT of rest to keep up with school. The fatigue, headaches and joint pain are what bothers him most. I give him tylenol sometimes. Do you have any other suggestions? Thankyou
Karen10 Message
9 Nov 2010, 06:24 AM

We're delaying treatment for our daughter. She's only 2 and I'm happy to wait until she's a little bit older and can understand a bit better as to what is going on. Are you getting his hearing tested regularly? My Dad started going deaf at an age similar to your son's and that is something that would definitely start me treating my daughter immediately.
nomidalliance Message
9 Nov 2010, 06:49 PM

My middle son is now 11, and has a milder from of NOMID. He has been on Ilaris for over 2 years (the shot you are talking about) and it is wonderful! He was on daily injections of anakinra from 4.5 yrs until almost 9, when he switched to the Ilaris. Before he was on medications, he was like your son almost every other day, and was miserable. He has NOMID, so he got brain pressure, and had some pressure in the optic nerve and also had some risk to his hearing, and all that reveresed within months of starting medications. He had stopped growing from the age of 3 until going on medications at 4.5 years of age, but has now caught up on height and weight, and lives a very active, normal life now with almost no issues. He has to take a much higher dose of the Ilaris than MWS of FCAS patients, and has had a few breakthrough symptoms whenever he has needed to go up onto a higher dose, but most of his days are free of suffering. He can focus in school well, and is advanced on his school tests. Before medications, he was so tired, and weak and could not even handle preschool due to the fevers, anemia, headaches, pain and frequent vomiting with flares. Call me if you want to talk- I also run The NOMID Alliance, and have talked with many CAPS patients and their families from around the world that are in the same position as your son. The concern with CAPS is the effects of long-term inflammation affecting the body, such as hearing loss and also the frequent suffering that can affect kids greatly as they get older. These medications will change his life. Many patients say, "I now know what normal feels like" after starting medications, since they have known nothing but suffering their entire lives. The earlier you start medications, the better the odds of avoiding hearing loss or other concerning complications, and also your child will have a better quality of life and self-esteem. There is great stigma to being a patient, and having everyone ask about your rash, or why you cannot do things like everyone else. If we had known what my son had earlier, or if medications were even available, I would have started even sooner. At the time, he was the youngest going on anakinra at the NIH, but within a few years, younger patients were being diagnosed sooner, and started on medications. Currently, many infants have been started on anakinra, some even within the first few months of life if they have significant symptoms, and are diagnosed. My son has NOMID, so he was at great risk if he did not start medications but he is on the milder end, so some now feel like he is more like a crossover of MWS and NOMID. No matter what form of CAPS, patients suffer greatly and with these new medications they can have a chance to experience life like everyone else. Have you also found which is a great new network site for CAPS patients that is moderated by staff from EURODIS and NORD? It is helpful too, and there are many medical articles on the site as well. Karen Durrant 415-831-8782
chall Message
9 Nov 2010, 08:29 PM

Thank you for your responses. We did just have his hearing checked and it is good. If this medicine can actually lesson the damage that can be caused, then of course we want to do that. I guess I'm just hesitant about the side effects of it. It would be nice to see him not hurting and not so tired. Thank you for that web site. I will check it out.
nomidalliance Message
10 Nov 2010, 07:59 AM

I am glad his hearing is ok. I am sure that at 9 it is getting harder with fatigue and missing school from this syndrome. I understand the concern with the side effects, but have not really seen any issues with my son, only great improvements! There is a supposed slight increased risk for infection, but I have not seen any issues since my son's labs are now normal, instead of sky high on his inflammation and his White Blood Cells were very high before starting the drug, so they are in the normal range, not low. That is the one big concern with these medications, as the other side effects are minimal. So far I have not heard of many issues from patients. If your son is interested in trying the medications, I would do it. The Ilaris is nice since it is one shot every 8 weeks (my son is on a higher dose and gets it every 6 weeks, but still that is not bad!) It may make him very happy, and as he gets older it gets harder to keep up in school and life unless the symptoms are in control. Before going on these targeted medications, my son was only on Naproxen and Zyrtec (did nothing really) and Motrin for flares before he started the naproxen. Nothing really changed things for him until he went on the correct medications, but Motrin did bring down the fever, and Naproxen kept the fever flares from getting as high. He had to take that twice a day, and now there are more concerns about taking NSIADS like Naproxen long-term so I feel better about the Ilaris. Good luck! Karen
griffin Message
17 Apr 2012, 11:17 PM

I have a quick question. If I am seeing symptoms in both of my children who have the dx of MWS V200M variant...but blood and urine labs come back ok...what does that mean exactly? Would the symptoms be damage showing, or can they still have inflammation but not show up on labs? Please help me clarify. Thanks so much, Regina Statler
nomidalliance Message
18 Apr 2012, 06:22 AM

Regina, I will write you more tomorrow, but I just got off work and saw your message! Wow what news for you all. I am going to email you some info about V200M and also, feel free to call me too. I am home tomorrow 415-831-8782. You may want to have labs done when your children are showing symptoms, or a flare. This mutation is considered to be one with "low penetrance" meaning that there are some people that have CAPS symptoms, but there are others that have this mutation that are in the general population and do not show CAPS symptoms, and one case there was a family with most of the family having CAPS symptoms that had this mutation, but they found two members in the extended family that had the mutation that did not have symptoms. It is complicated, as some patients that I know have this mutation and are greatly affected by CAPS symptoms all the time, but some doctors are not always thinking it is all from CAPS, however, many do much better on the medication for CAPS. I know one lady that is doing very well on meds for CAPS, but was having all the classic CAPS issues until she started treatment. Another has more severe type CAPS, and ha this mutation, but also has some other rare diseases, so her condition is a challenge to doctors. I will email you tomorrow, as I am likely not making much sense right now, but I wanted to get back to you so you know that I have been thinking of you too, and really appreciate the update. Also, we are planning some patient picnics around the US for patients with CAPS and other autoinflammatory diseases, and there are many in Ohio that are planning to come, so we may have 2 picnics there-one nearer to Cincinnati or Columbus, and one near Cleveland. They are just getting set up, but I want to inform you of them, and it would be a way to get to meet others like you and your family! Best wishes, Karen .
griffin Message
18 Apr 2012, 04:09 PM

Karen, Thanks so much. Yes so much to share about the family. Jarin is by far in his 3 yrs. on the more severe end of things. He has symptoms daily and some days are worse than others. Sometimes I think for him the fact that he has to eat a certain way and has to take his supplements so often affects him mentally. Other kids are eating foods in front of him all of the time and he gets to eat his foods that I prepare for him and his treats that I give him...but he is realizing that he can't have the other stuff...he will suffer the consequences later. Back pain, joint and ankle pain, GI issues, some headaches, plugged ears and ear infections, fatigue are def. daily and some are weekly issues. He also has many tics and neuro. issues that show daily. I will try to give you a call for sure. This little one keeps me hopping though!