My Story

Katie was born on April 22 of this 2003.... At 37 weeks gestation, an ultrasound revealed that her arms and legs we only developed to 29 weeks. And so began our journey.
The next few weeks were terrifying. We had no idea what would happen when she was born. The doctor said my baby was probably a dwarf. Only time would tell....

Katie was born weighing 6 lb. 3 oz. and just as beautiful as she could be ... the doctor was amazed. Not only was she double the size they expected, she also looked perfectly normal. Her arms and legs were a little small, but nothing astonishing like they had expected. And she was perfectly healthy. We left the hospital the following day.
Katie had feeding problems right from the start. We changed formula 3 times over the next 2 months, the soy formula seemed to do better than the others, but she always had loose stools. The DR was not too concerned with this, as it was not diarrhea.
By the time Katie was 3 months, we knew there was a problem. She was not growing at the rate you would expect. At 5 months she weighed only 8 lbs 11 oz. and was 21" long, just a little bigger than a newborn. We sent all of her medical records and
x-ray's to Dupont Children's hospital in Delaware to be evaluated for any skeletal dysplasia. They said everything looked fine, and there was no evidence of skeletal abnormalities at this time. She was very proportionate, which was suggestive of growth hormone deficiency. We scheduled an appt with the endocrinologist.
She had an MRI to rule out Pituitary problems. During this test they found that she has an Arnold Chiari Malformation (her cerebellar tonsils descend down past the base of the skull, which can crowd the spinal cord and brainstem.) They said that it was common for people of short stature. (about 1 in 4) and that it should be of little concern at this time, as most people with this rarely have any complications.
We saw a Geneticist, Endocrinologist, Neurosurgeon, Developmental specialist, and her Pediatrician on a regular basis. She was ill quite frequently, having
Roto Virus at less than 2 months, 4 ear infections in a 3 month timeframe, and numerous colds.
On several occasions she was seen just for being pale and lethargic. With no other symptoms. And for mysterious rashes that would come and go. All the while she was sending us clues.
I was always very involved with her care, and did research on all of the different causes of short stature. I questioned the doctors regularly about possible causes and specific testing. Katie did not appear malnourished. She was above the 50% for her height to weight. And was very proportionate, with no muscle wasting that they could see. So our search continued...

On November 25th our world came crashing down. We rushed Katie to the E.R. because she appeared to be having some type of seizure. And she was not breathing normally. when we arrived, she looked fine again... the doctors came and went the nurses came and went. And every time, they would miss the subtle blank stare and the brief pause in her breathing.
After 1 hour of this, I went and grabbed a nurse from the hallway and begged her to please stay and watch her for a few minutes, so she would see what I was talking about. And sure enough, within a few minutes Katie did it again.
Everything happened so quickly after that... She was rushed into the trauma room. Hooked up to all of the monitors and they tried to start an IV. Within about an hour she was intubated and fighting for her life.
My heart sank. The scene was all too familiar. In 1995 our 3 1/2 month old son, died from Fulminant meningococcemia (meningococcal sepsis). After only 12 hours from the time of onset.
They said she may have meningitis, she had hydrocephalus, and petichae. She was on her 9th day of antibiotics for another ear infection. And she had no fever at all.
Quick cultures didn't show anything unusual, and the doctors were just as confused as ever. Then her CBC's came back.....Her WBC was 2.4 HGB was 7.2 and her PLATELETS were 11,000!
I remember one of the docs mentioning leukemia. And someone used the term marrow failure.... I was so scared. But it just didn't sound right. I asked one of the doc's if this could all possibly be related... her slow growth, the infection, and the blood counts. He didn't seem to think so... but I knew, deep inside, I think it was just maternal instincts, or maybe a message from God? I don't know, for sure, but I knew that deep down, it all fit together somehow. And it was all so familiar to by little boy's tragic passing.

I really hit the books hard after that. And the internet of course. I made full use of the hospital's medical library, I had a list a mile long, I printed page after page of everything I could get my hands on. And I would sit for hours, by her side, reading and highlighting, and taking notes. Making lists of questions to ask when they came around each day. I was convinced it was fanconi's anemia, a bone marrow biopsy was done on our 8th day and results would prove that it wasn't fanconi's. I had everything from myelodysplasia, Pearson syndrome, SCID, kostmans disease, Shwachman's and aplastic anemia on my list, and quite a few others.

On day 2 she had an external Ventricular shunt placed to drain the fluid from her brain. She was on ceftraxione in the case of a bacterial infection, although after 3 days the cultures were all normal. On day 7 she got a MRSA (Methacillin Resistant Staphylococcus Areus) infection from the shunt that was in place, and was diagnosed with staphylococcal meningitis, WHILE we were in the hospital!!! she was put on Vancomyacin and rifampin to combat that infection. They ordered CT's, MRI's and ultrasounds of her spleen, liver and kidneys. But not of her pancreas.

Her condition slowly improved and after 4 weeks the shunt was removed. She had been receiving blood products, (platelets, plasma, and packed red cells) almost on a daily basis. They tried IVigG, but she did not tolerate it and it was stopped after 1 hour. They even asked if they could check her for HIV!! Of course I consented, but I knew they were running out of ideas! On December 22 they sent stool samples to the lab, and then finally on the 23rd they did the ultrasound of her pancreas. And on Christmas Eve they walked in the room and said they finally had a diagnosis for her. It was Shwachman-Diamond Syndrome.
She has a pretty severe case, from what they are telling me. She has severe pancytopenia, severe pancreatic insufficiency, and they are already talking about Bone Marrow Transplant in 2-3 months. They are sending the DNA to the Hospital for sick children in Toronto, to confirm the diagnoses.
The following monday I took in my other 3 children for HLA typing and to have their CBC's done. My oldest, Amanda (11) probably will not match as she doesn't have the same father. But they checked anyway. That leaves my son Jonathan (7) and my daughter Alayna (5). As the most likely candidates.
Yesterday the hem clinic called and they want me to bring Alayna back in with me tomorrow, when I take Katie for her appt. Because they want to do her CBC's again and they asked to bring a stool sample if possible. I am so afraid that she may have it too. They believe that my baby that died in 95 based on his med records and autopsy report, that it is very likely that he had Shwachman- diamond syndrome also.
What are the odds? That 3 out of 4 of the children I have with my husband could have this? I was considering another in a couple years. But this changes everything;
I haven't read too many good outcome stories about this disease. And I haven't found much info on Bone marrow transplant success rates either.
Katie is home from the hospital now and goes to the hem-onc clinic 3 times a week. And is on GCSF for the neutropenia, and is transfused when her HGB and PLTS drop down, about every 2-3 days. She weighs 10 lbs 2 oz and is 22" long. She is 8 1/4 months old. Happy as can be!
Thank you for listening,
Christina

Update:

Katie Had her bone marrow transplant on May 25th 2004. She is doing so well now, It's hard to imagine she was ever so sick.

God has truly blessed us with an amazing little girl. Our thoughts and prayers are with all of the children (and adults) who suffer from SDS. May God bless you and keep you safe and strong! And to all the families out there, Miracles do happen! You are your childs advocate, arm yourselves with all the knowledge of this disease, and trust in God to see you through.

Christina

These Organizations provide information, education, and emotional support to Shwachman-Diamond Patients and their families.

Katie's Transplant will begin on May 19th 2004

We have decided to use an unrelated cord blood for her transplant.

We are still awaiting the molecular testing for Alayna.

Hopefully she does not have SDS. 

UPDATE:  The testing confirms that Alayna is "at least" a carrier. she carries 2 genes for sds, Katie has 3.  we will have to wait for the genetic research to catch up to determine if she has SDS.  But for now, she is happy and healthy.