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Tag: CD40 Ligand Deficiency
Idan's Blog
Day 86: Sleepless in Seattle
by Amanda • • 9 Comments
(Yes, I went there.) We are sleepless in Seattle over Idan’s latest chimerism test results. Once again, the numbers are not where we hoped they’d be, and, worse yet, are indicating that the graft is slipping even further. Idan’s T-cell count remained low, nudging up only a few percentage points from 7% to 12% donor from the DLI. This would have been fine if not for the fact that his myeloid cell line, which had been at or near 100% from the beginning, has slipped down to 83% donor.
There are two possibilities for the slip down. The first and more likely is that Idan is rejecting the graft (probably because he does not have a substantial number of donor T-cells). The second possibility is that the myeloid cells are just fluctuating and will stabilize at a high number. We are redoing the chimerism test next week to see if it continues to drop. If so, we know that we are likely facing rejection. Obviously, we are hoping and praying for the graft to hold tight and for the T-cells to continue increasing. We are planning for a second DLI on January 27th, but that plan may change depending on the test results next week.
Without speculating too far into the future, should Idan reject the graft, we will have to gear up for battle again. There is some new research indicating that Idan’s disease makes him susceptible to an even greater array of opportunistic infections than initially thought, and that the CD40 ligand protein is implicated in more areas of the immune system than just the creation of IgGs (hence why IgG replacement therapy is not sufficient to protect Idan).
A second transplant comes with even more risk than the first one and is a very scary thought, so we are praying that we do not have to go down that road. That said, we think back to our initial reasons for choosing Seattle and feel comforted knowing that Idan is still strong and did very well throughout the transplant. There are definitely scenarios far worse than rejection. No matter what the next chimerism results show, we have no regrets.
We are blessed with a child that fills our heart with joy and laughter, and allows us to forget our fears and worries. We hope that we can do the same for him by staying strong, happy and optimistic – but prepared to go back into battle if necessary.
Idan's Blog
Day 80: Update and a Day in the Life…
by Amanda • • 5 Comments
Idan being playfull while trying to avoid bath time
It’s been a long week. It started with yet another medical mystery. On Tuesday, we took Idan to the hospital to test his swallowing ability. Since his first hospitalization in April, he’s had random choking fits while eating or playing that have gotten worse since transplant. We initially thought it was acid reflux, but decided to take a closer look to make sure bacteria wasn’t quietly entering his lungs with these fits. It turns out, Idan does have a problem swallowing liquids. He is having some mild aspiration, which is concerning enough that we are now thickening all of Idan’s drinks to make sure he doesn’t choke. It doesn’t seem to be connected to the transplant since it started after his intubation last April, but it’s not clear what is causing this problem. In any event, we are hoping Idan grows out of it.
Getting his X-rays
Shortly after the swallowing test, Akiva felt a scratch in his throat, and we had to separate him from Idan until we knew for sure he did not have a cold or, if he did, he was free of symptoms for at least 48 hours. Thankfully, the scratch in his throat went away, but the scare meant Idan and I were on our own for two days. Ever since we came to Seattle, Akiva and I have worked in unison to care for Idan as the three of us hunkered down for his bone marrow transplant. It hadn’t quite dawned on us just how much care and energy our situation necessitates until I was without my partner.
Our routine starts at 7:00 a.m., with Idan’s first medication of the day – tacrolimus. This must be given every 8 hours. Idan is usually up by then, so we give it to him right on time. Then, his central line must be flushed. His central line splits into two lines. Both lines must be flushed once a day. This requires first cleaning the two lines with an alcohol swab, then pushing a saline and then heprin syringe into each line. After breakfast, we take Idan’s temperature, and then measure out and prepare his 6 or 7 oral medications (depending on the day of the week), and give them to him a ½ ML at a time (more syringes). After oral meds, we can play, go outside, and do “normal” activities until it’s time to leave for the clinic. We go to the clinic two or three afternoons a week for Idan’s regular exams, blood draws, infusions, to pick up new meds, and to talk to the pharmacist about any changes to the meds. These visits can last anywhere from 1 ½ to 3 hours, depending on what’s lined up for the day. We usually have to pack his 3:00 dose of tacrolimus to make sure he gets it on time. The clinic visit often ends with a cranky child who, although loves visiting all his friends, gets pretty frustrated that he can’t crawl or walk around.
After clinic, we give Idan more medicine for his acid reflux, and then we have Facetime/Skype chats with family on the East Coast over dinner. After dinner, Idan gets 5-6 more oral medications. Then we can get Idan ready for his bath. Before the bath begins, the entire tub must be thoroughly cleaned, a few fresh towels and washcloths are set aside in a clean area, and Idan’s dressing must be covered. Small pieces of film are wrapped around the ends of his line to prevent moisture from coming in, and a piece of gauze is placed on some Press N’Seal wrap to cover his entire dressing. Idan’s entire chest and stomach are covered, and he gets a bath standing up – no splashing in water for him. Before he goes to bed, he needs another bottle to meet his fluid goals for the day, so we put on some Curious George while he finishes up. We do one last temperature check before he is carried into the bedroom. One of us will put Idan to sleep, and the other works on cleaning the rest of the house so it is ready for Idan in the morning. Our night ends at 11, when we give Idan his last dose of tacrolimus for the day, trying not to wake him.
Imagine doing all of the above with an active toddler who weighs over 30 lbs, and on only a few hours of uninterrupted sleep! It was a happy reunion when Akiva was able to join us again. During his period of isolation, Akiva finally got a chance to deal with our insurance and bills that are starting to come in – and finally got a haircut! I learned how to do all of the above with no help (although Idan does enjoy helping me wrap his central line before bath), and in spite of it all, had a ton of fun with the cutie. So, not all bad…
Next week is a very busy week. We have the next chimerism test on Monday morning, bright and early. The rest of the day/week will be filled with a repeat of all the tests that were done pre-transplant for the post-transplant evaluation typically done between Day 85-100. These days don’t matter nearly as much for us given Idan’s difficulty engrafting on his T-Cell line, but it is important to know how well his organs have withstood the chemo, etc.
We will have lots to report in a week, so stay tuned…
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Day 79: Idan Gets Busy With Art
by Admin • • 0 Comments
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Day 77: First walk outside
by Admin • • 1 Comment
From Facebook: Idan went out yesterday for a short walk around our block. While his immune system is still very much compromised, we need to mostly avoid children and people. Mid-day on a cold day seamed like the best time to test out his new walking skills:
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Can You Guess What Idan Is Excited About?
by Admin • • 0 Comments
From Facebook:
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Update from Duke
by Admin • • 0 Comments
June 22: Thank you for your warm wishes for our trip to Duke, the first of many trips to hospitals around the country. The trip was well worth it as we learned a lot and we now have a good option for transplant (if we can figure out how to relocate to North Carolina for six months of course). Here is a brief summary of our Duke trip and why we have decided, among other things, to change our goal.Our first and perhaps harshest lesson is that, for a baby Idan’s age and with his disorder, a stem cell transplant poses a 10 to 15% chance of death. Why transplant at all then, you ask? Well, after speaking with Dr. Buckley who has been following many Hyper IgM patients from birth, some until their third and fourth decades of life, the risk of death increases exponentially as Idan gets older and is exposed to more potentially fatal opportunistic infections and most certainly malignant cancers. A 10-15% mortality rate for stem cell transplant begins to look pretty good all things considered, and has the potential to be curative. The key now is to determine how to reduce that risk to the greatest extent possible, and how to make sure that we do this once and we do it right.So, we have heard how Duke plans to reduce this risk. The risk comes from three sources: infections, adverse reaction to chemo, and graft versus host disease. Duke recommends using a lower dose of chemo, certain prophylactic medications, and bone marrow as opposed to peripheral blood or cord blood. Each of these steps will help to reduce the risk of mortality, and also increase the chance Idan will accept the transplant.
Importantly, Dr. Buckley, who has seen Hyper IgM patients for the past 40 years and has seen the entire spectrum of how these individuals were affected by the disorder, both for those who opted for transplant and those for whom transplant was not an option, recommends this: Do the transplant as soon as you can with the institution that has the most experience. Idan is the “picture of health” right now, and thus has the best chance of survival and CURE.
So we have only started our journey, but agree that we need to do this once and do it right. This means visiting all the experts and hearing how they plan on reducing the risk. If it were your child, wouldn’t you go to the end of the earth, too?
Now, for our goal. According to materials provided by Duke, the average cost for families across the country to undergo a transplant is approximately $650,000 for the first year. We hope this is a high estimate in our case, where we have insurance that will cover a large portion of the medical expenses of transplant. However, our insurance does not cover IVIG, a very costly treatment Idan will need frequently for the year during and post transplant. Because this is not covered, we will likely need to pay for private insurance, but we understand there is no guarantee we will be able to purchase insurance in such a short time frame that also covers IVIG and also does not charge us a very high premium because of Idan’s condition. Regardless, we have estimated our expenses to range from $250,000 to $350,000, which is why we’ve raised our goal. We have not included in our goal the other non-medical expenses such as the visits to doctors across the country, loss of income for six months or more, and relocating expenses.
We hope you will continue to share Idan’s story, email your contact lists, and post on your facebook pages and twitter so that we may meet our goal, and, more importantly, be connected with any other experts (be they doctors or researchers) that can help us reduce Idan’s risk so that we can do this once and do it right.
Love and best wishes to all,
Akiva, Amanda & Idan
After a long drive down to Duke, a long day with doctors, and another long drive after, Idan gets his first beach visit for a few minutes before we head back to NYC. I think he liked it.
Idan's Blog
Getting ready for a trip to Duke
by Admin • • 0 Comments
June 9th Update: dan update: We saw the pulmonologist last week and he believes Idan’s lungs are doing very well and should be strong enough for transplant. This is great news, and should allow us to move forward quickly once we choose a doctor/hospital. We are getting ready for a trip to Duke to visit one of the expert transplant doctors for Hyper IgM and other immune deficiencies. Wish us luck!
Fundraising update: With your help, we’ve raised almost $40,000 – nearly half of our goal – in only a few days! Idan’s story has been read by over 1,000 people, 261 generously donated, and hundreds more have shared Idan’s story through Facebook, email, and Twitter! Through your efforts, we’ve even been put in touch with another doctor who has performed a successful Hyper IgM transplant. Thank you so much!
Idan's Blog
Idan’s Story goes public on Facebook
by Admin • • 0 Comments
You all know our son Idan, and many of you have followed his adventures on Facebook. Idan now needs your help! Last month, after a 21 day stay in the ICU, Idan was diagnosed with Hyper IgM, a very rare life-threatening genetic disorder that plagues his immune system. We need your help, so he can live a full, long and healthy life: Please see here:https://www.youcaring.com/fundraiseforidan and feel free to Like, Share and pass along. More details and updates to follow. See here for original Facebook post.
Idan's Story
How we got here: Idan’s Story
by Admin • • 0 Comments
\How we got here: Idan’s Story
Last July, we stood in front of a crowded room and introduced our baby boy to the world. We spoke of the long journey that we took to get to this moment in our lives. Akiva’s quest to find a brain surgeon willing to and capable of operating on his brain stem to remove a tumor threatening his life, and unleashing the superhero within. Amanda’s pursuit of her childhood dreams. Our love story. And now, Idan. A child born to parents who could not be more grateful, more blessed, more thrilled to begin this new journey as a family. Hence Idan’s name. Idan is Hebrew for “time,” or “era.” We knew our little guy would be unusually strong, and we wanted him to have an equally strong name. What could be stronger and more precious than time?
Nearly a year later, Idan has proved us right. He is precious, uniquely strong, extremely brave, and has began his own journey. Idan has been diagnosed with a very rare and life-threatening immune deficiency disorder that affects only 2 in 1,000,000 people. This is his story, and how you can help.
In April, Idan started breathing very quickly. There were no other symptoms to cause alarm. He played, ate, and seemed perfectly normal, except for his respiratory rate. We went back and forth to the doctor, everyone believing it was a sneaky virus that would take its course and go away. When two weeks passed and Idan began looking fatigued, we took him back to the pediatrician for a second x-ray. We were rushed to the hospital, and Idan was taken to the pediatric ICU to be given oxygen. He was hospitalized for several days before we found out the culprit, a very rare form of pneumonia caused by the most common of fungus that lives in nearly all of us – PCP. It wreaked havoc on his baby lungs, and he had to be placed on a ventilator for 13 days to help him breathe. The doctors busily ran tests to determine why he developed PCP, a condition that usually affects those without an immune system. But he was our healthy 8 month old boy, right?
We soon discovered he had a severe immune deficiency, which made him uniquely susceptible to this aggressive fungus that threatened to take his life. We stood by his bedside, for 21 days, wearing gowns, masks and gloves, unable to hold, kiss, or even touch him. Despite all that, and despite tubes invading every inch of his body, Idan courageously found strength to smile, even to laugh. We stood by his bed and read to him, sang to him, danced for him, and deep down, we knew that he was the one comforting us the entire time. His smiles and intuitive stares, ones which belonged to a much older adult, not a child, told us he was strong and going to survive the PCP and conquer his immune deficiency. After three excruciatingly long weeks, Idan’s lungs finally recovered. He regained his strength and was discharged from the hospital.
Idan came home and resumed many of his normal routines, and you would never know he spent weeks in the hospital fighting for his life. But after Idan was discharged from the hospital, we faced a new challenge – diagnosing the underlying problem with his immune system that made him uniquely susceptible to the fungus that causes PCP. It was not long before Idan was diagnosed with Hyper IgM, an extremely rare and life-threatening genetic primary immune deficiency disorder where the immune system fails to fight against even the most harmless of germs – hence the PCP. We have no family history of the disease and never saw it coming.
Today, we are treating Idan’s Hyper IgM with regular weekly infusions of immunoglobulin replacement therapy and antibiotics to prevent reoccurrences of the PCP. This will protect him from the majority of infections, bacteria and viruses, but cannot protect him against everything. To date, most individuals with Hyper IgM have not survived past their third decade of life, and are often plagued with recurrent infections and high incidence of cancer. We are hopeful, however, that the medical advancements made in the last ten years with stem cell transplantation in children with Hyper IgM will allow Idan to live a normal healthy life. When his lungs have fully healed, Idan will need a stem cell transplant, which, though it comes with its own set of risks and challenges, is the only known cure. Thankfully, we have already found a donor who is a perfect match.
How You Can Help
We need your help raising funds to enable us to make sure that, no matter what happens to us, Idan has the best possible medical care, a successful transplant, and enough funds to cover the medical costs he will incur along the way. This will help to pay for Idan’s hospitalization for the PCP, extensive genetic testing, weekly infusions of immunoglobulin, frequent trips to the pediatrician, immunologist, pulmonologist, and transplant team, as well as the cost of a stem cell transplant and future hospitalization. We know we cannot do this alone, and, to that end, we have set up this fundraising page for Idan.
Please post, send to your family and friends, and share liberally. We appreciate any and all support that you can provide. Please note that any gifts to Idan are not tax deductible. If you would like to pray for Idan, his full hebrew name is Idan Yarden Ben Esther.
We will literally go to the ends of the earth to find the best medical care for Idan. This disorder is so rare that there are only a few doctors around the world that have even encountered it, let alone know how to treat it effectively. We are hopeful that, with your help, Idan will have access to these experts and will be cured.
Thank you,
Amanda, Akiva & Idan