"The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom Katie. Read this US family's story, here.
[Betty's mom Katie is sharing their SDS story.]
I found out I was pregnant with our 5th baby when we were on a family vacation. This was a big surprise but we already had four children, what was one more?
My pregnancy was going just fine at first. Then when I was 34 weeks pregnant, we found out the baby was not growing like she should and I was diagnosed with IUGR (intrauterine growth restriction). I had an easy delivery when I was 39 weeks pregnant and she was born weighing 7 pounds 2 ounces. I thought those doctors were so wrong worrying about her size! She went home the next day and appeared as healthy as could be.
Betty struggled to gain weight and when she was three months old, the doctor decided to send her for blood work because she was dropping in percentile for her weight and head circumference. Later that afternoon, I received a call from the nurse letting me know that her bloodwork was kind of off and that she was scheduled for an ultrasound and an appointment with the GI doctor the next morning at Nationwide Children's Hospital.
The next morning turned into an all day visit from 8-5. The GI doctor sent us for more bloodwork and by the end of the day I found out Betty had low platelets (I didn't even know what platelets were), low hemoglobin, her thyroid was off, her liver numbers were wacky and much more. It was Memorial Day weekend so we were to go back to the hospital on Tuesday. Over the weekend, I got test results through MyChart showing that Betty had pancreatic insufficiency, so I spent a good portion of my weekend googling that.
Tuesday morning we saw hematology, endocrinology, genetics, dermatology, and GI. We met with the dietician who told us about enzyme therapy and how to give Betty enzymes before eating. While at Betty's hematology appointment, the doctor mentioned Shwachman Diamond Syndrome. We had bloodwork drawn that day to test for Shwachman Diamond Syndrome (SDS) and were told the results take about three weeks.
Almost exactly three weeks later, I got a call from the genetics counselor letting me know that Betty did indeed have Shwachman Diamond Syndrome. Betty was four months old when we got this diagnosis. After hearing the stories of other patients, I realize how lucky we were to get her diagnosis so quickly. We were so lucky to have a Children's Hospital just 20 minutes away with such knowledgeable doctors.
The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive. I spent the next several nights reading about SDS, reading the stories of other patients, crying when I read about families losing their child, and praying. It was an emotional time but I decided to be positive, have faith in God's plan, and enjoy life.
We were followed closely by GI. In late June, Betty continued to drop off the charts for weight so she was given an ng feeding tube through her nose. I was able to continue breastfeeding her by day and at night she would be given formula through the feeding tube for 12 straight hours. But after ten days of getting her ng feeding tube, she got very sick. On the Fourth of July night, she was miserable, vomiting and was having diarrhea all night long. The next morning her stomach was sunk in so much that her skin looked wrinkled. We took her to hematology and she was dehydrated and admitted. She stayed three nights and then got to go home. Less then a week later, she was admitted again with the same issues and stayed for eight nights. We got to go home once again, but she continued to have diarrhea. Betty was still dehydrated and her blood sugar was dangerously low so she was admitted again, but this time it was for almost four weeks.
Betty needed to stop breastfeeding and formula feeds and needed to give her gut rest and time to heal. She was put on TPN (Total Parenteral Nutrition). This is where nutrition is given through the veins. This was such a hard time. Betty felt miserable. I did everything humanly possible to make her feel better. She was finally able to start drinking milk again, but we needed to switch to a bottle so we could see exactly how much she was getting. After not having anything by mouth for a week, she luckily took to the bottle. Betty had a few bad nights of vomiting blood and needed a couple blood transfusions here or there but finally starting gaining weight. The doctors hoped that now that her nutrition was better, that her bone marrow would also improve. Betty came home and started doing much better with her nutrition and gaining weight. I had to feed her every two hours day and night.
The doctors hoped that now that her nutrition was better, that her bone marrow would also improve.
Betty needed to go for bloodwork often after coming home from the hospital. Around November of 2019, when she was 9 months old, we found out that her ANC (absolute neutrophil count) was close to zero. This meant that Betty's immune system was not working very well and the doctors told us to start staying home so that she wouldn't be around germs. Betty started needing blood transfusions about monthly around this time as well. Then in January of 2019, Betty began needing platelet transfusions weekly. Her platelet count was so low that if she bumped her head or scratched her finger, it was a huge deal.
In February, the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions. She had iron overload from all the transfusions and it was time to start discussing a transplant. All of our children and my my husband and myself were tested to see if we were a match for Betty. Our three boys were a perfect match of each other, but not for Betty. Therefore, the doctors looked into the "be the match" registry. We found out that Betty had 1,000 potential matches and from that number, it was narrowed down to four people. Finally we found the best match who happened to be a 21 year old young woman living in the United States. Many children do not have a match, so we felt extremely blessed and thankful for Betty's perfect match.
... the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions.
Betty went through the next three months with lots of tests and also a liver biopsy. Her liver numbers were elevated 15 times higher then the norm but this is all related to SDS. The biopsy was to help the doctors know what medication to use during transplant to keep her liver healthy and not cause further damage.
In late April of 2019, Betty started chemotherapy and was hospitalized for four nights and then we were able to come home to be with the family for one week. We were lucky to be able to be home for Easter as a family. Then, Betty was admitted for her bone marrow transplant. She went through more chemo treatment and received her new cells on May 16, 2019.
Betty's doctors and nurses told me that Betty would begin to feel very fussy, sick, sleep a lot, and would stop eating and would need another ng tube. I was so against the feeding tube due to the discomfort it would cause her and all the problems it caused her in the past so I fought that one. She was supposed to have the ng tube placed on day zero of her transplant but I asked to keep it out and only place it if absolutely necessary. Luckily, we had the best BMT doctor ever who actually listened to my concerns and went along with my plan. My goal was to keep her eating. I worked hard to get her to drink her milk and carnations instant breakfast three times a day. She would drink 3 ounces at each meal and also eat other food. She never needed that feeding tube and she never seemed miserable. I prayed every morning for her to feel good and to eat. I took it day by day and was thankful for each good day.
Betty played everyday and was happy every single day. The doctors would joke around asking if the nurses forgot to give her chemo.
Betty received her new cells at midnight on May 16th, 2019 when she was 15 months old. There are many risks involved with a bone marrow transplant such as graft vs host disease as well as organ damage. That night I prayed and prayed that her new marrow would help her and not hurt her as she received her new cells. I felt an overwhelming feeling that all was going to be okay as her new cells ran through her central line and I just knew God was with her that night.
On Monday, May 27, 2019 Betty was on day +11 which means eleven days after her transplant and it was also her first day of engraftment. She got to go home on May 30th which was day four of engraftment.
We were so amazed at how quickly she got to go home and it was way faster then we expected.
Betty came home and had a few rough days of random vomiting which was most likely related to her getting used to all of her bone marrow transplant medications she was on. She was overall happy and full of energy. We had some minor issues with her skin that the doctor worried about graft vs. host disease, therefore she stayed on her immune suppressant longer then what is typical.
She is now 3 years old and we just celebrated her 2nd re-birthday. She has stayed healthy has not been admitted to the hospital once since she has come home. We feel extremely blessed to have her home everyday and doing so well.
[Editorial note: Thank you Katie for sharing your family's story. To learn more about how could potentially save a life through stem cell donation through Be The Match and other organizations, click here].