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MMA, Cobalamin B

Our son, Siem, has MMA-CBL B. He was born on 27-07-2015 with a normal delivery. Until then, everything went perfect. Siem was tall (54 cm) and weight 4080 grams. Nutrition was a bit difficult, but it was until the week before the big crisis that things went really bad. It turned out that Siem was seriously ill 6 weeks after birth. There was a lot of vomiting, very sleepy, losing weight quickly and eventually he couldn’t keep any food in. After going to GP, we arrived at the local hospital the same day, but after an enema we were sent home. This turned out bad for a baby almost 6 weeks old. He hadn’t been fed for 24 hours. Siem lost a lot of fluids, weakened and it didn’t help. The next morning we went back with Siem who wasn’t awake at all and after examinations we had to stay for observation. I knew that morning that something was very wrong. When I looked at him, I knew I was going to lose him. After 2 days, the doctors were thinking of a metabolic disease and Siem was rushed by ambulance to UZA in Antwerp, Belgium. According to the professor that night, we should not have been an hour later. Siem was in a comatose condition. With today’s knowledge of MMA, we still see it as a miracle that Siem did not die that night after almost 72 hours in a mega disruption. It is unbelievable that he survived so long on his own. That night we were allowed to visit him after 5 long hours. Suddenly he was laying on all kinds of monitors and wires and 2 large IV lines in his groin. You could hardly see a baby anymore. My husband and I will never forget that night, where we needed to stay in the hospital with our phones on. The fear of MMA got into us forever and will never go away.

After 2 weeks in the ICU and 3 weeks in nursing, the transfer came to Rotterdam, The Netherlands. After 3 weeks we were allowed to go home, with mountains of medication and a very strict eating schedule. We are grateful that our son is still with us. There are many other children who die quickly, children who don’t stand a chance to metabolic disasters. Fortunately, for MMA the chance of this is becoming less now that MMA has finally been included in the post-natal screening in our country since 2019. Siem was really bad those weeks in Antwerp. That should NEVER happen to other children.

In the first 3 years that followed, it was mostly about surviving. We spent whole days feeding, weighing, calculating, vomiting, cleaning, calculating again and feeding again. If the vomiting got too bad, another hospitalization followed. In the meantime we tried to have a nice day every now and then, but actually we didn’t get the chance or time for that.

In these years Siem developed differently. Siem received physical therapy, speech therapy, we went to psychologists, the rehabilitation doctor and looked for care at home. Siem’s development was slow. His torso, in particular, was very flaccid and immobile. Siem could walk at 17 months and started crawling after that. How proud and happy we were then! In these years it also became clear that Siem, unfortunately, had kidney damage extremely early. We had to give more and more fluids and more and more medicines. At his peak, Siem had to take 3.5 liters of fluid in 24 hours. Actually, that was impossible in his small body. But we did everything we could to keep his values as good as possible.

Siem playing drumsIn the meantime I searched a lot online for help, tips and advice. Step by step we became more familiar in the world of MMA. While searching for more information, I found the OAA and that is how Dr. Venditti’s name came up. I googled and found his email address. I emailed him and a day later I already had a response. So the ball started rolling and we maintained a lot of contact with Dr. Manoli and the entire team at the NIH. A world opened up for us! How much they know about MMA! When we found out that they’ve been researching MMA 24 hours a day for over 20 years, the idea was born to take Siem to the NIH. Mainly because we were desperate for a solution. We read that they are investigating gene therapy for MMA. We found that very interesting.

In these years, we developed a special friendship with other parents of an adult daughter with MMA-MUT. We decided to go to the NIH together. Unfortunately, the trip for Siem, and all the stuff we had to take for him, turned out to be organizationally impossible, and we didn’t want to take the risk of a long journey for Siem. We collected his entire files and all his labs and in June 2019 we made the trip with the five of us. Wonderful side effect is that the care-education school of Siem raised money with a Christmas Fair, so they could make a donation for our trip. It was all heartwarming and gave us a lot of strength. We spent a week in the NIH, had many conversations and learned so much. This team is so passionate and know so much about MMA as if the patients are their own children. They receive patients from all over the world. They also found it puzzling that Siem had kidney damage so early, but still attribute this to his serious gene defect (Cbl B). The concentration of acids and substances in his blood was very high. His kidneys had been extensively examined by our doctors and nothing else had been found. Also puzzling is Siem’s anemia. During one of the conversations with Dr. Manoli and Dr. Venditti, they first suggested a liver transplant to us. Later, back home, there was contact between Dr. Manoli and our doctor in the Netherlands and then the entire process started.

At the end of 2019 we registered in UMCG, Groningen, in the north of the Netherlands. This is the only hospital in the Netherlands where liver transplants are performed for children. We live in Breda, in the south of the Netherlands. In January 2020 we got the official week for screening. In the meantime, we tried to read as much as possible and also asked fellow liver doctors from Dr. Manoli for advice.

We doubted a lot about the liver transplant. No one could give us any guarantees, the risks of the procedure were big. The chance was almost 100% that Siem would have a major crisis again during the procedure and neurological seizures could occur due to the immunosuppression / medication. And in Siem’s case everyone assumed that his kidneys would take a big hit. We were prepared for dialyses during and after the procedure and a kidney transplant within 2 years. Quality of life for Siem is always our number one priority in every choice we make for Siem. We did not want to let him suffer at all costs. May be the price was too high? We were very anxious in the beginning because there was relatively little experience with liver transplant, specific in MMA patients. Siem was 3rd MMA patient in the Netherlands, although they’ve done a lot of liver transplants on itself. 

Siem at the beach

For us, the decision was made by thinking of Siem’s strength. We also asked our doctors in Rotterdam directly ‘what are his chances’? They also indicated that Siem is very strong and is never sick outside of his MMA and does not have any other problem in his body. We also heard from Dr. Manoli and read in studies abroad that there were fewer complications and the chances improved when the child is younger. If we had to do it; now is the time.

As if Siem wanted to give us a sign, everything accelerated in the summer of 2020. On another hospitalization with vomiting and fluid loss, it seemed as if his kidneys were worse suddenly and rapidly. Even with 4 or 5 liters of fluid through the IV, his kidney values did not seem to improve. Everyone seemed surprised and started talking about a kidney transplant. But in the case of MMA, according to the doctors, the liver had to go first. If his new liver was no longer sick, with healthy DNA, it would be able to process the protein better and his kidneys would be less burdened. The acids in his blood would also drop enormously and ensure a lower load on all organs, including his brain. Only new kidneys would be damaged again after a number of years. Partly, this is some sort of gene therapy for us but only in his liver.

At that time, in 2020, there was no donor yet. Until this moment, Siem was not even officially on the transplant list because all kinds of consults and scans had failed and delayed and we still had to take all kinds of official steps. My husband and I proved unsuitable as a donor for technical reasons. Our liver was too small and my crucial vein was in the wrong place. Unfortunately, there were not many people from our immediate family. The donors among our friends were rejected for all sorts of reasons. At that point, the choice was definitely made for us. We did everything we could to find a donor. Before, we kept everything pretty quiet. We decided to post our story on Facebook. We felt very uncomfortable and this was a big step. But it had to be, for Siem. From that moment we got on a big roller coaster, that didn’t stop until 2021. Liver transplants were still much unknown and at that exact moment a new Donor Law became active in the Netherlands on 1-7-2020. The subject happened to be very popular, so our story was picked up by many media.

We got in the newspaper and were also invited to a national TV show. Together with the surgeon of the UMCG, we have put together a very beautiful and humble story. We gave a voice to many children and patients because more than 300 registrations came in for Siem! My husband and I still have no words for this. This is an event in your life that you will carry in your heart forever. Our son’s donor was also included in this group, but other children have also been transplanted by people from this group. It is heartwarming and we are so thankful to all these people. They give children a new life. Everything was going fast and in a hurry and our son was put on the transplant list. He was transplanted on 09-21-2020. His donor was a 58 year old women, mother of 2 grown up sons. She gave a little part of her liver to Siem.

In our case it worked out really well. Our son turned out to be a huge fighter for the 2nd time during this entire process. We are incredibly proud of him. He has been nicknamed “Super Siem” since birth. He can do anything, really anything. There has been no complication of the liver and from day 1 his liver worked great. However, due to the MMA and the kidney problems, many complicated problems were added. The combination of 3 disciplines is what a doctor in the ICU called “higher mathematics”, against the limits of science. What has happened is unbelievable and so much I can’t describe. 4 times anesthesia in 1 week, big seizure, plastic surgeon, MRI, long puncture, operation and delirium. All besides his metabolic crisis, kidney problems and liver transplant. We advise all parents to think very carefully and to prepare well for a liver transplant.

Miraculously Siem’s kidneys have held up very well and he has not had dialysis, not even during or after the liver transplant. At this moment his kidneys are stable, his MMA is very low, he’s on half of his medication and we only had 1 acute emergency hospitalization in 2021. It’s unbelievable.

The biggest difference for us is in his labs, which are only 10% of what they were, so the burden on his body is much less. The other big difference, we think, is everything that has to do with eating, vomiting and being nauseous. Our son never vomits anymore. Never. He eats much better, much more willingly and with more pleasure. He is no longer nauseous every day. We can now give the mandatory fluid intake, the calories and all medication much easier and faster. This makes his life much lighter.
Personally, we think that not that much more protein has been added. It is 10 grams higher than before the LT. His levels are extremely low so we wonder what would happen if he eats more protein. Much is still unclear about this. We still live with schedules, still calculating everything he eats. There is no difference for us and that’s the only thing we didn’t expect.

Our son is currently being treated in Rotterdam, the Netherlands, and the metabolic department still remains the basis. The nephrologist and liver doctor watch and determine policy, together with the hospital in Groningen. We regularly visit for scans, photos, checkups, etc. In Groningen we now only have to be once a year for a checkup. Fortunately, everything went well and the liver biopsy was good, without rejection.

Siem has a developmental delay/disability (with signs of ASS) and a significant speech/language disorder. Motor retardation is also present but no further physical impairment; very hypermobile, poor condition and coordination problems. Siem currently goes to care/education in another city. This is a care class within a regular primary school. Siem is offered developmental stimulation but also targeted preschool tasks. In addition, he goes to an eating therapy group. He receives physical therapy and speech therapy twice a week. He is improving a lot now. We cherish every step he is making.

Recently there was a clinical genetic study looking for other possible syndromes in Siem, because of his developmental problems and autistic behavior, to rule out things. So far nothing else has been found. Also MRI of brain shows no abnormalities.

Now that crisis, panic and danger has passed, there is more time for other things, fun things, living!
We cannot describe how proud we are of Siem. It’s unbelievable what he’s been through in 6 years. And he stays strong and happy. I feel a lot of pain when I think of all the misery and suffering he, and other sick kids, has been through. We hope that with this heavy surgery and the past difficult years, we can give him a better life. So that he may not only live a longer life, but most of all with more quality of life. For us that’s the most important thing to fight for.

Nowadays, we still have contact with Dr. Manoli ad after LT we did a big video call with the whole team. This was so special for us! We are thankful from the bottom of our heart to the entire team. They know so much about MMA and give so much love. The surgeons who gave our son his new liver also have a place in our hearts, especially the surgeon with whom we had a lot of contact and who jumped in with us for the TV broadcast. Together with all (metabolic) doctors in Groningen and Rotterdam, who do what they can for the metabolic children, we hope that one day metabolic diseases will be better known, better treated or even cured. And last but not least: our son’s donor. We are still in regular contact with her. She is the mother of 2 adult sons herself. When another mother gives your child a new, better life, there are no words for it. Gratitude doesn’t even cover it. She stood up. She stood up for our son. She is our hero, forever. Together with Siem.

Breda, The Netherlands

From the Spring 2022 OAA Newsletter

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