Team Riley

THE DIAGNOSIS

On February 5, 2016 our then two week old daughter was diagnosed with a rare disease and by rare, I mean 1-in-a-million. Adenosine Deficient Severe Combined Immunodeficiency, otherwise known as ADA-SCID – a genetic disease that leaves her with no immune system.

THE DISEASE

Riley’s body, due to a mutated ADA gene, does not produce the enzyme Adenosine Deaminase. This enzyme helps to control certain waste products that, when not controlled by the ADA enzyme, build up and kill off the white blood cells that make up the immune system.

TREATMENT

The general treatment for SCID is a Bone Marrow Transplant. The best option for this is a perfectly matched sibling. Many children do not have this option and must search the national Bone Marrow Registry for a donor or in some cases use a parent. Riley does not have a sibling and in the case of ADA-SCID, a Bone Marrow Transplant has lower success rates than other types of SCID. Thankfully, we have a few things on our side.

Riley currently receives the following treatments:

  • Enzyme Replacement Therapy: Riley’s type of SCID is the only kind to be able to receive this treatment. This is administered as an injection. Riley receives a total of 4 injections per week. These injections help Riley’s body control the waste product and build a temporary immune system while we wait for her definitive treatment.
  • Subcutaneous Immunoglobulin Infusions: All SCID patients receive Immunoglobulin at least monthly until full immune reconstitution is obtained, if ever. Riley receives this at home every two weeks through two needles placed in her legs, a pump runs for about two hours infusing the donated blood plasma (antibodies). Many patients receive this through an IV at their clinic or hospital. Since SCID children are not able to be vaccinated or create antibodies to any pathogen, these antibodies really help in keeping her protected and healthy.
  • Antibiotics to help prevent illness

GENE THERAPY

As stated above, Riley does not have good chances at a successful Bone Marrow Transplant. We are very fortunate to have the option of Gene Therapy for her. Riley will be enrolled in a research study to receive Gene Therapy at UCLA in early 2017.

Here are some facts about Gene Therapy and how it works:

  • Riley’s own bone marrow will be harvested under general anaesthesia. A PICC line will also be placed at this same time.
  • Her stem cells will be extracted and corrected in a sterile lab.
  • A viral vector is used to deliver the correct gene to Riley’s stem cells.
  • She¬† will receive chemotherapy to make room for her new cells.
  • The corrected stem cells will be infused back through her PICC line directly into her blood stream.
  • We will remain in the hospital for 1-2 months then return back home on strict isolation.
  • They are finding that immune reconstitution can take anywhere from 6 months to a year, or in some cases slightly longer.

 

 

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