One Week Later

This week has been one of ups and downs. We found very little information on WHS and how it will impact Kendall. It is very clear to us that this syndrome is unique for each person, regardless of the chromosomal deletion. We could find a person with the same exact deletion and it could have a completely different effect on Kendall. We also realized that the magnitude of variety is so extreme, that the chance of us finding someone exactly like Kendall is impossible. This Syndrome is so rare that most doctors we talk to or learn about have only seen between 5-10 cases over their 30 years of studying genetics. We attempted to search for other clues by talking to other 4p- parents. We talked to one family in Los Angeles and have emailed a few others. We are trying to look for the best case scenario so that we can start setting some goals for her. Realistically, she is going to be what she is capable of being. So, we have officially moved from "looking for answers" mode to "treatment and monitoring" mode. When there is no cure and no similar case, we have to do the best we can to look forward and give her everything possible to be healthy, happy and loved.

One step in moving toward grasping this condition included taking her to a Neurologist. We found one of the best available in the city and brought her to Children's Memorial this past Wednesday. Our research has shown that the majority of 4p- kids have seizures. Our visit with the doctor was more of an assessment and counseling than anything. Since we have not seen her seize and any medication at this point would just sedate her (leading to more development delays), we have taken their advice to not apply any medications until we actually witness seizure activity. There is a small chance that she will not have seizures and we hope that the odds will be in her favor. Our next visit is with a well known Geneticist tomorrow. We hope to get some answers on how to address other risks, such as kidney problems and heart issues.

Until we see that there are other maintenance measures we can take, our highest priority is to get her as much nutrition as possible. Since her recovery from Rota Virus, she has been eating well and we continue to push her threshold of food intake (both bottle and G-Tube). We have been able to increase her amount to about 30% more than the nutritionist has advised us to feed her. It seems to be helping because she weighed 11 lbs. at the Neurology visit, which was about 10 oz more than what she was 2 weeks prior.

As of this writing, she is doing well, but she as caught a cold from Carsen. We can't seem to get a string of more than 4 days of consistency with her, both with food intake and health. When she's sick or has a cold, she stops eating and her gag reflex gets more sensitive. We do whatever we can to avoid these situations, but nothing seems to work...

More after we talk to the Geneticist.

Kendall at Children's Memorial Hospital

Wolf-Hirshhorn Syndrome

This posting comes as a very difficult one to write. The title of this posting is also known as WHS or 4p-. WHS is an extremely rare chromosomal disorder caused by partial deletion of the short arm ("p") of Chromosome 4. In the case of this syndrome, the amount of genetic material deleted varies widely, causing the symptoms to vary from case to case.

On Thursday April 3rd , Kendall was diagnosed with WHS. Kendall was admitted Wednesday afternoon after having trouble keeping food and fluids down and during her stay, the word came back to us via our pediatrician about her condition. Her stay at the time was diagnosed as Rota Virus, which she must have gotten from Carsen. Carsen had a bad case of this the week prior and lost 20% of his body weight. Since Kendall was already low on the growth and weight curve, we got her in immediately to make sure it didn't become a serious situation. Our routine visit to the hospital turned into our worst nightmare.

Kendall's interest in eating and her ability to keep food down has always been a problem. 3 weeks ago, she got her G-Tube inserted, which now allows us to feed her directly into her stomach. Over the past few weeks, she had been making great strides and was getting upwards of 760 ml's of formula/day when her goal was only 660 ml's. We were starting to get hope that this was just a feeding disorder of some type and all she needed was some therapy to correct the situation. While we were at Lutheran General getting the G-Tube inserted, we asked our GI Dr. to exhaust all possible tests so that we can leave knowing why she is not continuing stable eating and growth patterns. At that time, we agreed to a genetic test, which we believed would be just a routine test that would come back negative like all the rest. We were mistaken. We now have answers to why she has been struggling since she has been born.

Wolf-Hirshhorn Syndrome is the diagnosis. Although it's only been a few days since we found this out, we have learned quite a bit about what to expect for her and for us. The variance of severity is wide and we are hopeful for her future. Gene and chromosome study are new to Cathy and I, but we are learning so much every day about this fantastic science. In Kendall's case, the affected chromosome is #4. Chromosomes are paired and have a short (p) and long (q) arm. Kendall's #4 chromosome has a deletion in the short arm. Each chromosome arm has numerical sequence identifying its specific bands of the arm. The most severe case of WHS occurs when the 4p16.3 band is deleted. People with this band missing have severe mental retardation, limited growth and extreme recognizable physical attributes identifying them as such. Fortunately, Kendall is not missing this band and therefore does not have an extreme case of this disorder. Her chromosomal study identified micro deletion, versus a whole arm. We still have to study what her deletion means and look to find others that have this specific deletion. WHS is a fairly new finding, just over the last 30+ years. This disorder is so rare, that numbers have come back at 1 in 90,000 births have been diagnosed. Our discussion with the Geneticist at St. Alexis stated that it is very possible that there are people walking around that have this, but have never shown symptoms to get it diagnosed. We will continue to search for a case similar to ours that might help us set expectations and find ways to help her now.

We don't know the details of what to expect for Kendall. We do know that she will be delayed developmentally and potentially physically. Most WHS cases involve severe seizures (50-100%), skeletal anomalies (60-70%), heart defects (50%), hearing loss (40%) and much more. We believe that most, if not all of these traits may not be present in her as she has not shown any signs of these and even the Geneticist at Lutheran General said that she doesn't see anything that resembles a genetic problem (prior to the test).

Our current plan is to give her a lot of love and push for only the best care and treatment. We want to find out very quickly whether or not she is at risk for seizures. We also have been advised that filling her weeks with therapy (speech/developmental/occupational/physical/massage) will help her progress more quickly. Additionally, once she is over this crazy virus, we are going to pump her full of calories and food so her brain has the chance to grow to the best of its ability.

We are optimistic, but will prepare ourselves for outcomes that may not be as hopeful.

We want to thank all of you that have been supportive during this time. So many of you have offered to help us in so many ways, including taking Carsen off our hands (which is more than what you could bargain for!).

Thank you again for the support. It means so much to us.