Bone Marrow Match Sibling for Our Son

Wg Williams is organizing this fundraiser.

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Our four year old son has a rare genetic condition called Shwachman-Diamond syndrome (SDS). Because of this he has neutropenia and the inability to digest food due to lack of digestive enzymes among other symptoms . He is at a high risk for failure of the bone marrow’s cell-generating capacity and leading to pancytopenia or decreased levels of all cellular components of the blood, potentially in association with myelodysplastic syndrome (MDS). This would require him to need a matching bone marrow transplant to sustain life.

It is now possible to use in vitro fertilization (IVF) combined with genetic testing to attempt to have a bone marrow match sibling from my wife and I who are his biological parents and only carriers of SDS. During IVF they will also insure that the sibling will not have SDS like he has.

We started this IVF process three months ago under the assumption by contact with our insurance company and the fertility clinic that a large portion of the costs for this process was covered by our policy. We were notified just yesterday that this is not the case and the total out of pocket bill including special medications for my wife and outside lab testing will exceed $20,000.

Our son was diagnosed then genetically confirmed as having SDS at 15 months old and he is now four years old and on medication just to be able for him to digest food every time he eats something. This has been a roller coaster ride for all three of us and one we do not wish upon anyone. We are still blessed because many families with a SDS child are at the bone marrow failure stage.

We are asking that only people that can afford to help please donate. Anyone struggling with bills of their own just keep us in your prayer.

More information;

Let me clarify how and why having a Shwachman-Diamond syndrome free sibling that is also a bone marrow match for our SDS child is prudent and medically necessary for us and all other SDS families. I will also answer other questions people have here on this post.

Although our son does not need a bone marrow transplant this very moment it is known from the medical history of this genetic disorder that his chance of needing a bone marrow transplant eventually is very high. Also, with SDS there is a very low success rate for bone marrow transplants when there is anything less than a perfect bone marrow donor match. The statistics show that an SDS bone marrow transplant patient with less than a perfect donor match has a 50% or lower survival rate.

When one enters the national bone marrow donor match data base program, even if this data base lists let's say 2 matches this does not mean that these are actual viable matches. This also does not mean if they are actual viable matches that they are a high enough match to lead to a 66% or higher chance of survival from the transplant. Also you will have no data for when these matches will age out or have some other medical issues themselves that eliminates them as a donor candidates. SDS is a wait and hurry up desease when in regard to needing a good donor match donor for a bone marrow transplant.

In regard to SDS there is no debate in the medical community for this fact; Having a sibling that is a bone marrow match is the best medical action to take outside of the direct treatment for the patient themselves. Siblings have the best chance to be that perfect match which so many SDS kids need but sadly never get.

However, I encourage everyone to get on this data base to be a donor. If you ever become a bone marrow match and go to donate, this is only an out-patient procedure on your end and you are donating bone marrow that is replaced by your body so there is zero long term downsides. When our son gets his bone marrow biopsy which is once a year, this is for the most part the same process that a donor will give when donating. Also, it is only a simple mouth swab to get added to the data base as a candidate. My wife and I are on the donor list program but we are not matches for our son. My wife is from Hispanic origin and I European. This mix also makes it very unlikely that there is an actual viable match on the data base for our son.

Here is that link to become a donor;

https://bethematch.org/support-the-cause/donate-bone-marrow/join-the-marrow-registry/

Below is a publication explaining SDS by the bone marrow failure and MDS program at Boston Children's Hospital. Our son is a participant of their SDS registry. This will help explain this rare disease to people hearing about SDS for the first time.

"What is Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and, in some cases, skeletal abnormalities. SDS is named for Boston Children's Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD, who were among the researchers to first describe the condition in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by four to six months of age.

With modern treatment options and ongoing management, most children with SDS lead normal lives, although continued medications and regular monitoring through hospital visits are usually required. These are typically annual visits for children without any major problems or more frequently for those with complications.

Children with SDS have a small but significant chance of developing blood disorders such as myelodysplastic syndrome (MDS) or leukemia. Nearly 5 percent of children with the condition will develop leukemia, with the risk rising to 25 percent by adulthood.

In addition, recurring infections, including pneumonia, ear and skin infections, are common. Many children with SDS also have growth problems and vitamin A, D, E and K deficiencies."

Citation Link:

https://www.childrenshospital.org/conditions-and-treatments/conditions/s/shwachman-diamond-syndrome

Thanks,

Wg Williams (the father)

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