Category: Idan’s Story

Hyper IGM, How Did We Get Here, and Where Are We Going?

photo (2)Hyper IGM, bone marrow transplant, immunodeficiencies, what does this all mean and why are we doing all this to our son Idan? For those of you still trying to make sense of the whole process, I am going to try and simplify it so that it is easier to follow.

What is X-Linked Hyper IGM?

Our son Idan was born with a genetic mutation passed along on his X Chromosome. The syndrome itself almost always only affects boys as girls have two X’s and are mostly just carriers. Since it never appeared in our family before, we had no way of knowing Idan had this until he got sick in April. Hyper IGM is so rare (2 in 1,000,000) that it is never something that is tested for (and most doctors probably never even heard of it).

So how does it affect Idan? Basically the gene mutation means that he is missing a protein that his T-Cells need to produce (called CD40 Ligand) that is necessary to produce Antibodies, or immunoglobulins. This protein is also used by the T-Cells to communicate (AKA tango with) with the B-Cells and allow them to do their job as needed. This leaves a huge hole in his immune system. Imagine an army with lots of foot soldiers (T-cells) and Special Forces (Immunoglobulins) constantly at battle with the world around us. This army keeps us all safe on a daily basis, and when we encounter viruses or bacteria that the foot soldiers cannot not fight off, the special forces take over. Idan has no  ability to create special forces at all, so he cannot recognize or destroy any viruses (think flu, cold, mono, herpes, etc.) so those can kill him. He also has lots of T-Cells that do not know the basics of fighting because the B-Cells cannot give them proper instructions. Therefore, he is susceptible to many opportunistic infections (like the PCP/PJP that almost killed him in April) that the rest of us just fight off without even feeling sick.

What are the dangers of Hyper IGM?

First, recurrent infections can lead to major organ damage. Idan’s lungs were in very bad shape after beating the pneumonia back in April. As time goes by many Hyper IGM kids have orgran damage to the lungs and liver from these infections. Second, opportunistic infections such as cryptosporidium, a parasite found in water, can kill Hyper IGM patients as there is no cure for cryptosporidium without a functioning immune system. Lastly, cancer, malignancies and liver and central nervous system diseases. As time goes by there are higher risks of all these, leading to a median age of 24 for Hyper IGM patients. Our immune system is constantly fighting off cancers before they even become an issue and our son’s immune system cannot do that.

So what can be done?

In the short term we have been treating Idan with immunoglobulin replacement therapy. These are the weekly infusions of IGG’s which is one of the 4 types of antibodies he is missing, and the only ones medicine knows how to replace.  This, coupled with major lifestyle changes (like isolation, bottled water, etc.) has kept Idan safe since April. Some Hyper IGM patents can live for many years this way, but since Idan’s mutation is the most severe form (i.e., he expresses no CD40L at all), the odds of this being enough are against him. The only known possible cure is a Bone Marrow Transplant which essentially would replace his entire army with a donor’s army that works properly.  But this is a complicated and risky process with high risks and no guarantees.

So What Is a Bone Marrow Transplant (BMT)?

Currently, there is no way to fix the gene mutation that causes Hyper IGM, but there is a way of replacing the bone marrow and giving Idan a new immune system. One can look at the bone marrow as the army base that the immune system (as well as the blood) is created and trained in. The idea is, if Idan’s b-cells cannot produce the protein he needs, lets give him a new army base, with soldiers that know what they are doing. But it is not that simple:

1) Currently the army base in his body is filled with soldiers (even if they’re not too smart), so there is no vacancy for him to host someone else’s army.

2) Idan’s body (AKA, the equipment, building and land that needs protection) is a perfect match with his current army, and no other army (AKA the donor’s bone marrow) is going to know how to work it in the same way.

3) Any gap in the protection that his army is giving him (albeit a lazy one) will open up his body to infections.

4) In order to create a vacancy in his army base so that a new army can move in, the old one needs to be eliminated entirely. The way they do this is with chemotherapy, which has the nasty side effect of destroying the bone marrow, and in our case we want that. However, that process comes with its own risks of toxicity to the body.

With all the risks involved Amanda and I decided that BMT is the way to go. BMT will give Idan the best chance at a long and healthy life. We did a lot of homework and spoke to dozens of bone marrow teams around the world. We decided on Seattle because of the new type of chemo drug they are using (Treosulfan) that is less toxic than others. If all we need is to clear the army base from soldiers why bomb random cities and cause damage to the whole land?

How will this cure Idan?

First they will use chemo and ATG to eliminate his bone marrow and suppress his immune system. This is what we are doing from Day -6 to Day -1. We then give Idan a day of rest while the chemo in his system continues to clear out all the soldiers from his army bases (including the civilian side of his bone marrow that produces red blood cells). On Day 0 the transplant date, we will infuse Idan with the donor’s army. His army has been found to be a 10/10 match to Idan’s. While this is great news, it is not the whole picture. This new army is not really going to understand how to relate to all of Idan’s body parts, and will most likely still want to attack some of it (this is called Graft ss Host disease, and it happens with 70% of the transplants from unrelated donors like Idan’s). For this reason they use the ATG, and the other immunosuppressants to allow the new army to come into the empty base, but forces it to unpack, train, and start patrolling very very slowly. Giving the new army more time to get adjusted to Idan’s body is a delicate balancing act that will happen over the next year. Since they are letting the bone marrow come in and start working very slowly there is a longer time where Idan is lacking any working immune system and will be kept in isolation as well as be given drugs to protect him.

So what is next?

Day -6 to day 0 we are clearing his bone marrow and making room. On Day 0 he gets the transplant, and we start counting days until the bone marrow travels to the base and starts setting up shop. We hope to hear around Day 22 that they have reached the base and that would be engraftment. We will then wait until we see his counts go up. The first type of soldier to come back (or, better put, to “grow”) is his neutrophils (which work fine now, but we have to get rid of them with the rest of the army) and they will wait until that level is good enough to get released to isolation at our apartment. This will happen between day 30 and 50 and then we will count to day 100 before they might let us go back to NYC. From then on and until around 2 years post transplant Idan will still have a weak immune system. Our hope is that around one year post-BMT, his new army will be strong enough and acclimated to his body to start reducing the supplemental protections we are giving him. Along the way there are going to be many scary events but we and the medical team will deal with them as they come up.

In a few years, when Idan can go to nursery school, play with other kids, take swimming lessons, play in the park and ride the swings all with the protection of his donor’s army, we will know we did the right thing to ensure Idan has a normal, healthy and happy life.

 

How we got here: Idan’s Story

969070_10100769864402362_917188301_n\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

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